reproduction regulation of cyclin-dependent protein serine/threonine kinase activity polysaccharide biosynthetic process response to reactive oxygen species ossification angiogenesis regulation of cell growth blood vessel development osteoblast differentiation ameboidal-type cell migration in utero embryonic development leukocyte homeostasis placenta development embryonic placenta development maternal placenta development regulation of protein phosphorylation negative regulation of protein phosphorylation positive regulation of protein phosphorylation regulation of endothelial cell proliferation positive regulation of endothelial cell proliferation vasculature development regulation of sodium ion transport sprouting angiogenesis cell migration involved in sprouting angiogenesis response to molecule of bacterial origin lymphocyte homeostasis immune system process regulation of immune system process negative regulation of immune system process positive regulation of immune system process regulation of leukocyte migration negative regulation of leukocyte migration regulation of leukocyte activation positive regulation of leukocyte activation developmental process involved in reproduction system process sphingosine-1-phosphate receptor signaling pathway carbohydrate metabolic process polysaccharide metabolic process glycogen metabolic process glycogen biosynthetic process regulation of glycogen biosynthetic process monosaccharide metabolic process glucose metabolic process cellular glucan metabolic process generation of precursor metabolites and energy regulation of carbohydrate metabolic process energy reserve metabolic process regulation of transcription, dna-templated regulation of transcription by rna polymerase ii regulation of translation protein phosphorylation negative regulation of protein kinase activity proteolysis ubiquitin-dependent protein catabolic process protein import into nucleus phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process nitric oxide biosynthetic process transport intracellular protein transport nucleocytoplasmic transport apoptotic process activation-induced cell death of t cells response to stress defense response inflammatory response response to oxidative stress organelle organization mitochondrion organization plasma membrane organization cell communication negative regulation of cell adhesion signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway epidermal growth factor receptor signaling pathway g protein-coupled receptor signaling pathway i-kappab kinase/nf-kappab signaling cell-cell signaling chemical synaptic transmission ensheathment of neurons multicellular organism development gamete generation germ cell development regulation of mitotic cell cycle nervous system development peripheral nervous system development female pregnancy behavior protein localization metabolic process cell death cell population proliferation positive regulation of cell population proliferation insulin receptor signaling pathway axon ensheathment regulation of notch signaling pathway apoptotic mitochondrial changes carbohydrate transport catabolic process macromolecule catabolic process biosynthetic process macromolecule biosynthetic process glucan biosynthetic process response to temperature stimulus response to radiation response to heat response to uv response to light stimulus response to external stimulus response to biotic stimulus response to bacterium response to abiotic stimulus anatomical structure morphogenesis response to endogenous stimulus response to hormone embryo development embryo development ending in birth or egg hatching tissue development regulation of biosynthetic process positive regulation of biosynthetic process negative regulation of metabolic process positive regulation of metabolic process regulation of catabolic process negative regulation of catabolic process positive regulation of catabolic process regulation of signal transduction negative regulation of signal transduction cellular process response to extracellular stimulus glial cell differentiation response to organic substance response to inorganic substance response to metal ion response to organonitrogen compound endomembrane system organization negative regulation of peptidase activity gene expression regulation of gene expression proteasomal protein catabolic process regulation of autophagy negative regulation of autophagy regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process positive regulation of phosphorus metabolic process negative regulation of phosphorus metabolic process regulation of cell cycle process regulation of cellular ketone metabolic process regulation of endothelial cell migration positive regulation of endothelial cell migration positive regulation of macromolecule metabolic process negative regulation of macromolecule metabolic process post-transcriptional regulation of gene expression positive regulation of gene expression negative regulation of gene expression epithelial cell migration regulation of epithelial cell migration positive regulation of epithelial cell migration negative regulation of organelle organization regulation of cell communication negative regulation of cell communication regulation of cellular carbohydrate metabolic process positive regulation of cellular carbohydrate metabolic process regulation of long-chain fatty acid import across plasma membrane negative regulation of long-chain fatty acid import across plasma membrane fibroblast migration regulation of fibroblast migration positive regulation of fibroblast migration positive regulation of sodium ion transport regulation of mitochondrion organization negative regulation of mitochondrion organization regulation of glucose transmembrane transport positive regulation of glucose transmembrane transport regulation of glucose metabolic process positive regulation of glucose metabolic process positive regulation of mitochondrial membrane potential regulation of cell death negative regulation of endopeptidase activity regulation of metal ion transport regulation of glucan biosynthetic process regulation of neuron projection development programmed cell death schwann cell differentiation schwann cell development phosphatidylinositol 3-kinase signaling protein transport energy derivation by oxidation of organic compounds cellular component organization carbohydrate biosynthetic process regulation of macroautophagy negative regulation of macroautophagy phosphorylation cell migration protein ubiquitination peptidyl-serine phosphorylation peptidyl-threonine phosphorylation peptidyl-amino acid modification peptidyl-serine modification peptidyl-threonine modification regulation of lipid metabolic process regulation of fatty acid metabolic process regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process cytokine-mediated signaling pathway regulation of metabolic process hexose metabolic process protein metabolic process modification-dependent protein catabolic process sexual reproduction glial cell development neurogenesis myelination in peripheral nervous system regulation of cell-cell adhesion negative regulation of cell-cell adhesion positive regulation of cell-cell adhesion cellular process involved in reproduction in multicellular organism reproductive process regulation of signaling signaling negative regulation of signaling cell differentiation regulation of cell adhesion regulation of proteolysis protein catabolic process positive regulation of cell growth regulation of cell migration positive regulation of cell migration negative regulation of cell migration epithelial cell differentiation mammary gland development lymphocyte costimulation t cell costimulation regulation of cellular metabolic process negative regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process regulation of cellular catabolic process negative regulation of cellular catabolic process positive regulation of cellular catabolic process regulation of cell projection organization regulation of protein ubiquitination negative regulation of protein ubiquitination regulation of protein modification process negative regulation of protein modification process positive regulation of protein modification process regulation of myelination lipopolysaccharide-mediated signaling pathway response to nutrient levels tor signaling regulation of fatty acid beta-oxidation negative regulation of fatty acid beta-oxidation regulation of nuclease activity regulation of deoxyribonuclease activity regulation of endodeoxyribonuclease activity positive regulation of nuclease activity positive regulation of deoxyribonuclease activity positive regulation of endodeoxyribonuclease activity negative regulation of protein binding response to food peripheral nervous system myelin maintenance peripheral nervous system axon ensheathment regulation of lipid transport negative regulation of lipid transport regulation of proteasomal ubiquitin-dependent protein catabolic process positive regulation of proteasomal ubiquitin-dependent protein catabolic process protein modification by small protein conjugation response to lipopolysaccharide multicellular organismal process developmental process multicellular organism reproduction maintenance of protein location in cell regulation of monooxygenase activity positive regulation of monooxygenase activity response to insulin cellular response to insulin stimulus cellular response to hormone stimulus regulation of localization regulation of protein localization regulation of polysaccharide metabolic process regulation of polysaccharide biosynthetic process regulation of organic acid transport negative regulation of organic acid transport macromolecule localization regulation of organelle organization regulation of peptidyl-serine phosphorylation positive regulation of peptidyl-serine phosphorylation protein localization to organelle carbohydrate homeostasis cellular response to stress multicellular organismal response to stress negative regulation of kinase activity positive regulation of kinase activity cellular polysaccharide biosynthetic process response to lipid response to cytokine regulation of cellular amide metabolic process response to fluid shear stress protein localization to nucleus cellular response to oxidative stress response to tumor necrosis factor cellular response to reactive oxygen species cellular carbohydrate biosynthetic process cellular nitrogen compound metabolic process cellular macromolecule biosynthetic process response to prostaglandin response to prostaglandin e regulation of transmembrane transport negative regulation of transmembrane transport positive regulation of transmembrane transport tube morphogenesis tube development intracellular signal transduction interleukin-18-mediated signaling pathway cellular response to vascular endothelial growth factor stimulus protein modification process response to decreased oxygen levels cellular response to decreased oxygen levels nik/nf-kappab signaling erbb signaling pathway regulation of growth regulation of locomotion negative regulation of locomotion positive regulation of locomotion gliogenesis regulation of cell population proliferation regulation of protein catabolic process response to chemical regulation of phosphorylation negative regulation of phosphorylation positive regulation of phosphorylation regulation of membrane potential myelination homeostatic process glucose homeostasis muscle cell differentiation regulation of apoptotic process chordate embryonic development t cell homeostasis negative regulation of apoptotic process regulation of programmed cell death negative regulation of programmed cell death positive regulation of catalytic activity negative regulation of catalytic activity negative regulation of cysteine-type endopeptidase activity involved in apoptotic process proteasome-mediated ubiquitin-dependent protein catabolic process macromolecule metabolic process response to external biotic stimulus myelin maintenance regulation of carbohydrate biosynthetic process regulation of ion transport positive regulation of ion transport anoikis regulation of cysteine-type endopeptidase activity involved in apoptotic process regulation of protein binding macromolecule modification response to peptide hormone regulation of generation of precursor metabolites and energy regulation of rna stability regulation of mrna stability protein kinase b signaling blood vessel endothelial cell migration regulation of blood vessel endothelial cell migration positive regulation of blood vessel endothelial cell migration endothelial cell migration regulation of kinase activity modification-dependent macromolecule catabolic process glucan metabolic process negative regulation of molecular function positive regulation of molecular function cellular metabolic process primary metabolic process cellular catabolic process cellular biosynthetic process cellular macromolecule metabolic process cellular carbohydrate metabolic process cellular polysaccharide metabolic process cellular macromolecule catabolic process cellular nitrogen compound biosynthetic process small molecule metabolic process biological process involved in interspecies interaction between organisms multi-organism reproductive process multi-multicellular organism process establishment of protein localization maintenance of protein location regulation of nitric oxide biosynthetic process positive regulation of nitric oxide biosynthetic process regulation of cell differentiation positive regulation of cell differentiation regulation of fat cell differentiation positive regulation of fat cell differentiation positive regulation of glycogen biosynthetic process positive regulation of protein catabolic process positive regulation of cyclin-dependent protein serine/threonine kinase activity negative regulation of notch signaling pathway positive regulation of cell adhesion positive regulation of cell cycle negative regulation of lipid metabolic process positive regulation of lipid metabolic process positive regulation of membrane potential regulation of protein kinase activity positive regulation of protein kinase activity negative regulation of proteolysis positive regulation of proteolysis positive regulation of transcription, dna-templated positive regulation of carbohydrate metabolic process negative regulation of fatty acid metabolic process positive regulation of growth positive regulation of mitotic cell cycle positive regulation of nucleobase-containing compound metabolic process negative regulation of phosphate metabolic process positive regulation of phosphate metabolic process positive regulation of transcription by rna polymerase ii nitric oxide metabolic process regulation of fatty acid oxidation negative regulation of fatty acid oxidation regulation of glucose import positive regulation of glucose import regulation of organ growth positive regulation of organ growth response to cadmium ion protein autophosphorylation positive regulation of lipid biosynthetic process regulation of lipid biosynthetic process intracellular transport insulin-like growth factor receptor signaling pathway phosphatidylinositol-mediated signaling inositol lipid-mediated signaling response to pain behavioral response to pain cell development animal organ development blood vessel morphogenesis positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process embryonic organ development regulation of response to stimulus negative regulation of response to stimulus reproductive structure development multicellular organismal reproductive process regulation of developmental growth positive regulation of developmental growth anatomical structure formation involved in morphogenesis regulation of smooth muscle cell proliferation positive regulation of smooth muscle cell proliferation system development gland development anatomical structure development cellular developmental process cell motility homeostasis of number of cells chemical homeostasis regulation of epithelial cell proliferation positive regulation of epithelial cell proliferation regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process regulation of t cell activation regulation of cell activation positive regulation of cell activation positive regulation of t cell activation nervous system process response to stimulus regulation of lipid catabolic process negative regulation of lipid catabolic process regulation of nitric-oxide synthase activity positive regulation of nitric-oxide synthase activity regulation of transport positive regulation of transport negative regulation of transport regulation of dna metabolic process positive regulation of dna metabolic process regulation of dna-binding transcription factor activity positive regulation of dna-binding transcription factor activity positive regulation of developmental process regulation of binding negative regulation of binding regulation of cellular component organization negative regulation of cellular component organization striated muscle cell differentiation nuclear transport import into nucleus regulation of nitrogen compound metabolic process negative regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process localization establishment of localization maintenance of location regulation of multicellular organismal process positive regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process negative regulation of protein metabolic process regulation of lymphocyte activation positive regulation of lymphocyte activation regulation of rna metabolic process positive regulation of rna metabolic process regulation of hydrolase activity regulation of transferase activity regulation of oxidoreductase activity positive regulation of hydrolase activity negative regulation of hydrolase activity positive regulation of transferase activity negative regulation of transferase activity positive regulation of oxidoreductase activity proteolysis involved in protein catabolic process cellular localization establishment of localization in cell maintenance of location in cell response to other organism cellular response to stimulus regulation of cell cycle regulation of mitochondrial membrane potential regulation of nervous system development regulation of peptidase activity regulation of endopeptidase activity response to lipoprotein particle regulation of postsynaptic membrane potential excitatory postsynaptic potential maternal process involved in female pregnancy regulation of macromolecule metabolic process regulation of cell development regulation of cellular localization response to growth hormone epithelium development negative regulation of cell death mammary gland epithelial cell differentiation placenta blood vessel development cell differentiation involved in embryonic placenta development glycogen cell differentiation involved in embryonic placenta development labyrinthine layer development spongiotrophoblast layer development labyrinthine layer blood vessel development regulation of mrna catabolic process membrane organization muscle structure development regulation of proteasomal protein catabolic process mammary gland epithelium development reproductive system development regulation of small molecule metabolic process positive regulation of small molecule metabolic process negative regulation of small molecule metabolic process cellular response to chemical stress biological regulation regulation of biological quality regulation of molecular function response to uv-a lymphocyte apoptotic process t cell apoptotic process response to oxygen levels protein localization to mitochondrion protein modification by small protein conjugation or removal response to interleukin-18 cellular macromolecule localization response to growth factor response to epidermal growth factor regulation of glycogen metabolic process positive regulation of glycogen metabolic process cellular response to chemical stimulus cellular response to biotic stimulus cellular response to molecule of bacterial origin cellular response to lipopolysaccharide cellular response to inorganic substance cellular response to metal ion cellular response to cadmium ion cellular response to organic substance cellular response to cytokine stimulus cellular response to interleukin-18 cellular response to tumor necrosis factor cellular response to growth factor stimulus cellular response to epidermal growth factor stimulus cellular response to peptide hormone stimulus cellular response to prostaglandin stimulus cellular response to prostaglandin e stimulus cellular response to lipid cellular response to lipoprotein particle stimulus cellular response to organonitrogen compound cellular response to oxygen levels cellular response to endogenous stimulus regulation of mononuclear cell migration negative regulation of mononuclear cell migration organic substance transport organic substance metabolic process nitrogen compound transport cellular component organization or biogenesis leukocyte apoptotic process regulation of protein serine/threonine kinase activity negative regulation of protein serine/threonine kinase activity positive regulation of protein serine/threonine kinase activity circulatory system development establishment of protein localization to organelle maintenance of protein localization in organelle establishment of protein localization to mitochondrion maintenance of protein location in mitochondrion regulation of primary metabolic process regulation of response to stress regulation of cellular response to stress regulation of nitric oxide metabolic process positive regulation of cell cycle process tissue migration epithelium migration regulation of release of cytochrome c from mitochondria negative regulation of release of cytochrome c from mitochondria sphingolipid mediated signaling pathway cellular response to granulocyte macrophage colony-stimulating factor stimulus response to granulocyte macrophage colony-stimulating factor execution phase of apoptosis response to alcohol cellular response to alcohol anterograde trans-synaptic signaling synaptic signaling trans-synaptic signaling chemical synaptic transmission, postsynaptic negative regulation of protein kinase activity by protein phosphorylation regulation of plasma membrane bounded cell projection organization cellular response to oxidised low-density lipoprotein particle stimulus regulation of long-chain fatty acid import into cell negative regulation of long-chain fatty acid import into cell positive regulation of g1/s transition of mitotic cell cycle regulation of protein localization to nucleus positive regulation of protein localization to nucleus regulation of cellular response to oxidative stress negative regulation of signal transduction in absence of ligand regulation of neuron death negative regulation of neuron death organonitrogen compound metabolic process organonitrogen compound catabolic process organic substance catabolic process organic substance biosynthetic process response to peptide cellular response to peptide response to ketone cellular response to ketone response to nitrogen compound cellular response to nitrogen compound response to oxygen-containing compound cellular response to oxygen-containing compound regulation of signal transduction by p53 class mediator positive regulation of proteasomal protein catabolic process regulation of cell cycle phase transition positive regulation of cell cycle phase transition regulation of mitotic cell cycle phase transition positive regulation of mitotic cell cycle phase transition regulation of oxidative stress-induced intrinsic apoptotic signaling pathway negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway regulation of intracellular signal transduction negative regulation of intracellular signal transduction positive regulation of rna biosynthetic process regulation of cell cycle g1/s phase transition positive regulation of cell cycle g1/s phase transition regulation of response to oxidative stress regulation of leukocyte cell-cell adhesion negative regulation of leukocyte cell-cell adhesion positive regulation of leukocyte cell-cell adhesion regulation of proteolysis involved in protein catabolic process positive regulation of proteolysis involved in protein catabolic process regulation of protein localization to plasma membrane positive regulation of protein localization to plasma membrane regulation of oxidative stress-induced cell death negative regulation of oxidative stress-induced cell death regulation of mrna metabolic process regulation of protein modification by small protein conjugation or removal negative regulation of protein modification by small protein conjugation or removal regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription regulation of i-kappab phosphorylation positive regulation of i-kappab phosphorylation positive regulation of protein localization regulation of cyclin-dependent protein kinase activity positive regulation of cyclin-dependent protein kinase activity regulation of protein localization to cell periphery positive regulation of protein localization to cell periphery positive regulation of nitric oxide metabolic process cell surface receptor signaling pathway involved in cell-cell signaling regulation of protein localization to membrane positive regulation of protein localization to membrane regulation of lipid localization negative regulation of lipid localization response to nerve growth factor cellular response to nerve growth factor stimulus response to insulin-like growth factor stimulus regulation of protein localization to cell surface positive regulation of protein localization to cell surface regulation of multicellular organismal development regulation of g1/s transition of mitotic cell cycle regulation of ubiquitin-dependent protein catabolic process positive regulation of ubiquitin-dependent protein catabolic process regulation of type b pancreatic cell development regulation of cellular macromolecule biosynthetic process regulation of cysteine-type endopeptidase activity negative regulation of cysteine-type endopeptidase activity regulation of cell motility negative regulation of cell motility positive regulation of cell motility regulation of fatty acid transport negative regulation of fatty acid transport regulation of lymphocyte migration negative regulation of lymphocyte migration reactive nitrogen species metabolic process regulation of rna biosynthetic process regulation of apoptotic signaling pathway negative regulation of apoptotic signaling pathway regulation of extrinsic apoptotic signaling pathway negative regulation of extrinsic apoptotic signaling pathway regulation of extrinsic apoptotic signaling pathway in absence of ligand negative regulation of extrinsic apoptotic signaling pathway in absence of ligand regulation of intrinsic apoptotic signaling pathway negative regulation of intrinsic apoptotic signaling pathway nucleotide binding catalytic activity protein kinase activity protein serine/threonine kinase activity protein serine/threonine/tyrosine kinase activity binding protein binding calmodulin binding atp binding phospholipid binding phosphatidylinositol-3,4,5-trisphosphate binding lipid binding potassium channel regulator activity channel regulator activity kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding enzyme binding kinase binding protein kinase binding enzyme regulator activity nitric-oxide synthase regulator activity adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding phosphatidylinositol binding purine ribonucleoside triphosphate binding small molecule binding identical protein binding protein homodimerization activity ion binding anion binding phosphatidylinositol-3,4-bisphosphate binding protein dimerization activity 14-3-3 protein binding organic cyclic compound binding carbohydrate derivative binding molecular function regulator activity channel activator activity potassium channel activator activity ion channel regulator activity protein serine kinase activity catalytic activity, acting on a protein molecular function activator activity nucleoside phosphate binding heterocyclic compound binding phosphatidylinositol phosphate binding intracellular anatomical structure nucleus nucleoplasm cytoplasm mitochondrion microtubule organizing center spindle cytosol cytoskeleton plasma membrane cell-cell junction cilium cytoplasmic side of plasma membrane microtubule cytoskeleton membrane extrinsic component of plasma membrane extrinsic component of membrane lamellipodium cell junction extrinsic component of cytoplasmic side of plasma membrane cell leading edge membrane-enclosed lumen nuclear lumen vesicle protein-containing complex ciliary basal body cell projection organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen synapse intracellular organelle lumen anchoring junction cell periphery side of membrane cytoplasmic side of membrane postsynapse cellular anatomical entity plasma membrane bounded cell projection mixed, incl. basic-leucine zipper domain, and mapk signaling pathway mixed, incl. basic-leucine zipper domain, and mapk signaling pathway mixed, incl. regulation of localization of foxo transcription factors, and salt-inducible kinase, catalytic domain mixed, incl. akt phosphorylates targets in the nucleus, and tcl1/mtcp1 superfamily protein kinase b, pleckstrin homology domain, and serine/threonine phosphatases, family 2c, catalytic domain egfr tyrosine kinase inhibitor resistance endocrine resistance platinum drug resistance mapk signaling pathway erbb signaling pathway ras signaling pathway rap1 signaling pathway cgmp-pkg signaling pathway camp signaling pathway chemokine signaling pathway hif-1 signaling pathway foxo signaling pathway sphingolipid signaling pathway phospholipase d signaling pathway autophagy - animal mtor signaling pathway pi3k-akt signaling pathway ampk signaling pathway apoptosis longevity regulating pathway longevity regulating pathway - multiple species cellular senescence adrenergic signaling in cardiomyocytes vegf signaling pathway apelin signaling pathway osteoclast differentiation focal adhesion signaling pathways regulating pluripotency of stem cells platelet activation toll-like receptor signaling pathway c-type lectin receptor signaling pathway jak-stat signaling pathway t cell receptor signaling pathway b cell receptor signaling pathway fc epsilon ri signaling pathway fc gamma r-mediated phagocytosis tnf signaling pathway neurotrophin signaling pathway cholinergic synapse dopaminergic synapse insulin signaling pathway progesterone-mediated oocyte maturation estrogen signaling pathway prolactin signaling pathway thyroid hormone signaling pathway adipocytokine signaling pathway glucagon signaling pathway regulation of lipolysis in adipocytes relaxin signaling pathway gnrh secretion insulin resistance non-alcoholic fatty liver disease age-rage signaling pathway in diabetic complications growth hormone synthesis, secretion and action carbohydrate digestion and absorption alzheimer disease spinocerebellar ataxia shigellosis salmonella infection yersinia infection chagas disease toxoplasmosis tuberculosis hepatitis c hepatitis b measles human cytomegalovirus infection influenza a human papillomavirus infection human t-cell leukemia virus 1 infection kaposi sarcoma-associated herpesvirus infection herpes simplex virus 1 infection epstein-barr virus infection human immunodeficiency virus 1 infection pathways in cancer proteoglycans in cancer colorectal cancer renal cell carcinoma pancreatic cancer endometrial cancer glioma prostate cancer melanoma chronic myeloid leukemia acute myeloid leukemia small cell lung cancer non-small cell lung cancer breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer choline metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer fluid shear stress and atherosclerosis apoptosis hemostasis intrinsic pathway for apoptosis activation of bad and translocation to mitochondria activation of bh3-only proteins signaling by erbb2 pip3 activates akt signaling developmental biology cytokine signaling in immune system adaptive immune system downregulation of erbb2:erbb3 signaling metabolism translocation of slc2a4 (glut4) to the plasma membrane tetrahydrobiopterin (bh4) synthesis, recycling, salvage and regulation signaling by notch signal transduction cell cycle disease mtor signalling immune system regulation of beta-cell development signaling by vegf signaling by wnt metabolism of vitamins and cofactors akt phosphorylates targets in the cytosol akt phosphorylates targets in the nucleus negative regulation of the pi3k/akt network membrane trafficking tcf dependent signaling in response to wnt metabolism of nitric oxide: nos3 activation and regulation enos activation regulation of gene expression in beta cells akt-mediated inactivation of foxo1a generic transcription pathway pi3k/akt signaling in cancer cellular responses to stress integrin signaling transcriptional regulation by tp53 signaling by gpcr deactivation of the beta-catenin transactivating complex gpcr downstream signalling costimulation by the cd28 family cd28 co-stimulation cd28 dependent pi3k/akt signaling ctla4 inhibitory signaling g beta:gamma signalling through pi3kgamma g-protein beta:gamma signalling vegfa-vegfr2 pathway signaling by interleukins butyrate response factor 1 (brf1) binds and destabilizes mrna regulation of mrna stability by proteins that bind au-rich elements ksrp (khsrp) binds and destabilizes mrna mitotic g1 phase and g1/s transition vegfr2 mediated vascular permeability programmed cell death tp53 regulates metabolic genes regulation of tp53 activity vesicle-mediated transport diseases of signal transduction by growth factor receptors and second messengers infectious disease constitutive signaling by akt1 e17k in cancer interleukin-4 and interleukin-13 signaling regulation of tp53 degradation regulation of tp53 activity through acetylation regulation of tp53 activity through association with co-factors regulation of tp53 expression and degradation pten regulation pi5p, pp2a and ier3 regulate pi3k/akt signaling cyclin e associated events during g1/s transition g1/s transition s phase cell cycle, mitotic cyclin a:cdk2-associated events at s phase entry rna polymerase ii transcription gene expression (transcription) platelet activation, signaling and aggregation platelet aggregation (plug formation) signaling by ptk6 ptk6 regulates rtks and their effectors akt1 and dok1 downregulation of erbb2 signaling rab gefs exchange gtp for gdp on rabs transcriptional regulation by runx2 esr-mediated signaling runx2 regulates genes involved in cell migration regulation of pten stability and activity metabolism of rna cellular responses to stimuli metabolism of cofactors intracellular signaling by second messengers signaling by non-receptor tyrosine kinases signaling by nuclear receptors signaling by receptor tyrosine kinases rab regulation of trafficking extra-nuclear estrogen signaling signaling by notch4 negative regulation of notch4 signaling flt3 signaling foxo-mediated transcription regulation of localization of foxo transcription factors estrogen-dependent nuclear events downstream of esr-membrane signaling sars-cov infections sars-cov-2 infection sars-cov-2-host interactions cellular response to chemical stress keap1-nfe2l2 pathway sars-cov-2 targets host intracellular signalling and regulatory pathways il-5 signaling pathway androgen receptor signaling pathway amp-activated protein kinase signaling target of rapamycin signaling angiogenesis micrornas in cardiomyocyte hypertrophy transcription factors regulate mirnas related to cardiac hypertrophy integrin-mediated cell adhesion il-1 signaling pathway integrated cancer pathway sterol regulatory element-binding proteins (srebp) signaling rankl/rank signaling pathway thyroid stimulating hormone (tsh) signaling pathway leptin signaling pathway follicle stimulating hormone (fsh) signaling pathway tnf-related weak inducer of apoptosis (tweak) signaling pathway prolactin signaling pathway microtubule cytoskeleton regulation il-7 signaling pathway alzheimers disease and mirna effects il-17 signaling pathway thymic stromal lymphopoietin (tslp) signaling pathway glioblastoma signaling pathways androgen receptor network in prostate cancer b cell receptor signaling pathway tnf-alpha signaling pathway age/rage pathway interleukin-11 signaling pathway corticotropin-releasing hormone signaling pathway butyrate-induced histone acetylation oncostatin m signaling pathway brain-derived neurotrophic factor (bdnf) signaling pathway alpha 6 beta 4 signaling pathway apoptosis primary focal segmental glomerulosclerosis (fsgs) t cell receptor and co-stimulatory signaling s1p receptor signal transduction cardiac hypertrophic response mammary gland development pathway - embryonic development (stage 1 of 4) il-3 signaling pathway apoptosis-related network due to altered notch3 in ovarian cancer extracellular vesicle-mediated signaling in recipient cells kit receptor signaling pathway focal adhesion copper homeostasis rac1/pak1/p38/mmp2 pathway ovarian infertility mecp2 and associated rett syndrome wnt signaling pathway il6 signaling pathway hepatitis c and hepatocellular carcinoma pathways affected in adenoid cystic carcinoma wnt/beta-catenin signaling pathway in leukemia tgf-beta signaling pathway bdnf-trkb signaling physico-chemical features and toxicity-associated pathways mapk signaling pathway pi3k-akt-mtor signaling pathway and therapeutic opportunities factors and pathways affecting insulin-like growth factor (igf1)-akt signaling tgf-beta signaling in thyroid cells for epithelial-mesenchymal transition t-cell antigen receptor (tcr) pathway during staphylococcus aureus infection regulation of apoptosis by parathyroid hormone-related protein 4-hydroxytamoxifen, dexamethasone, and retinoic acids regulation of p27 expression vegfa-vegfr2 signaling angiopoietin-like protein 8 regulatory pathway chemokine signaling pathway embryonic stem cell pluripotency pathways focal adhesion: pi3k-akt-mtor-signaling pathway leptin-insulin signaling overlap il-4 signaling pathway lipid metabolism pathway clear cell renal cell carcinoma pathways fibrin complement receptor 3 signaling pathway pi3k/akt/mtor - vitamin d3 signaling endometrial cancer pi3k-akt signaling pathway somatroph axis (gh) and its relationship to dietary restriction and aging caloric restriction and aging met in type 1 papillary renal cell carcinoma chromosomal and microsatellite instability in colorectal cancer  ebola virus infection in host ras signaling epithelial to mesenchymal transition in colorectal cancer non-small cell lung cancer breast cancer pathway pancreatic adenocarcinoma pathway acute viral myocarditis neovascularisation processes egf/egfr signaling pathway nonalcoholic fatty liver disease resistin as a regulator of inflammation relationship between inflammation, cox-2 and egfr synaptic signaling pathways associated with autism spectrum disorder fragile x syndrome neural crest cell migration during development neural crest cell migration in cancer translation inhibitors in chronically activated pdgfra cells small cell lung cancer gastrin signaling pathway hepatitis b infection head and neck squamous cell carcinoma melanoma endochondral ossification netrin-unc5b signaling pathway egfr tyrosine kinase inhibitor resistance endochondral ossification with skeletal dysplasias insulin signaling regucalcin in proximal tubule epithelial kidney cells host-pathogen interaction of human coronaviruses - apoptosis kisspeptin/kisspeptin receptor system in the ovary il-2 signaling pathway 3q29 copy number variation syndrome perturbations to host-cell autophagy, induced by sars-cov-2 proteins burn wound healing modulators of tcr signaling and t cell activation kallmann syndrome neuroinflammation and glutamatergic signaling malignant pleural mesothelioma t-cell activation sars-cov-2 network map of sars-cov-2 signaling pathway alzheimers disease nrp1-triggered signaling pathways in pancreatic cancer roles of ceramides in development of insulin resistance resolvin e1 and resolvin d1 signaling pathways promoting inflammation resolution modulation of pi3k-akt-mtor signaling by bioactive sphingolipids dravet syndrome clock-controlled autophagy in bone metabolism ldl- influence on cd14 and tlr4 sildenafil treatment primary ovarian insufficiency ckap4 signaling pathway map epo receptor signaling notch signaling pathway erbb signaling pathway t-cell receptor signaling pathway dna damage response dna damage response (only atm dependent) estrogen signaling pathway toll-like receptor signaling pathway disease of metabolism lower respiratory tract disease respiratory system cancer organ system cancer cell type cancer lymphatic system cancer immune system cancer thoracic disease pharynx cancer pten hamartoma tumor syndrome hepatobiliary system cancer intestinal cancer stomach cancer ovarian disease head and neck cancer female reproductive organ cancer cardiovascular system disease lung cancer proteus syndrome endometrial cancer disease of cellular proliferation reproductive system disease disease of mental health cognitive disorder respiratory system disease breast cancer cancer endocrine gland cancer squamous cell carcinoma vascular disease pancreatic cancer tumor of exocrine pancreas reproductive organ cancer colon cancer syndrome cervix disease gonadal disease female reproductive system disease ovarian cancer psychotic disorder pancreas disease endocrine system disease endometrial carcinoma endometriosis immune system disease carbohydrate metabolic disorder adenocarcinoma carcinoma glioblastoma multiforme astrocytoma malignant glioma nervous system cancer hepatobiliary disease gastrointestinal system cancer ischemia thymoma thymus cancer central nervous system disease uterine disease breast disease pancreatic ductal adenocarcinoma liver cancer central nervous system cancer uterine cancer lung carcinoma lung non-small cell carcinoma disease pancreatic adenocarcinoma liver disease glucose metabolism disease hyperglycemia cervical cancer pancreatic carcinoma thoracic cancer intestinal disease thymus gland disease colonic disease schizophrenia large intestine cancer genetic disease cowden syndrome inherited metabolic disorder hepatocellular carcinoma liver carcinoma disease of anatomical entity lymphatic system disease stomach disease gastrointestinal system disease lung disease nervous system disease colorectal cancer nasopharynx carcinoma diabetes mellitus type 2 diabetes mellitus nasopharyngeal disease upper respiratory tract disease tissues, cell types and enzyme sources intestinal cell line a-549 cell animal adrenal gland male reproductive gland reproductive system male reproductive system female reproductive system cardiovascular system mcf-7 cell astrocytoma cell line brain adenocarcinoma cell line cervical carcinoma cell ht-29 cell pancreatic cell line colonic cell line cardiac muscle pheochromocytoma cell line respiratory system central nervous system female reproductive gland brain cell line myoblast cell line head organism form carcinoma cell line panc-1 cell digestive gland lung cell line breast cancer cell line endothelium penis epithelium erythroleukemia cell fibroblast cell line gland lung cancer cell heart hepatoma cell line blood cancer cell bone marrow cancer cell hep-g2 cell integument embryonic cell line brain cancer cell line glioma cell line acute lymphoblastic leukemia cell leukemia cell line lymphocytic leukemia cell liver lung cancer cell line lung blood vessel endothelium pancreatic cancer cell line colonic cancer cell line ovary cancer cell line mda-mb-231 cell breast cell line melanoma cell muscle nih-3t3 cell skov-3 cell ovary ovary cell line pancreas pc-12 cell prostate gland cell line ovary cancer cell prostate cancer cell line hematopoietic cell line adult pc-3 cell vascular system blood vessel prepuce epithelial cell line prostate gland prostate gland cancer cell endothelial cell rhizome skin smooth muscle leukemia cell skin cancer cell lncap cell du-145 cell vertebrate muscular system vascular smooth muscle nervous system muscular system endocrine gland whole body viscus rectal cell line endothelial cell line umbilical vein endothelial cell line pancreatic adenocarcinoma cell line glioblastoma cell line rectal cancer cell line esophageal cancer cell colorectal cell line colorectal cancer cell colorectal cancer cell line vascular endothelium vascular endothelial cell bxpc-3 cell h9c2 cell ovary adenocarcinoma cell line breast adenocarcinoma cell line colonic adenocarcinoma cell line colorectal adenocarcinoma cell line huvec cell embryonic fibroblast cell line u-87mg cell non-small cell lung cancer cell bronchogenic carcinoma cell cardiac muscle fiber non-small cell lung cancer cell line esophageal squamous cell carcinoma cell urogenital system internal male genital organ external male genital organ internal female genital organ microvascular endothelium microvascular endothelial cell mammary gland cell line lymphoblastic leukemia cell non-small cell lung adenocarcinoma cell line mammary gland tumor cell line epithelial ovarian cancer cell vascular smooth muscle cell cardiac microvascular endothelial cell intracellular nucleus nucleoplasm cytoplasm cytosol cytoskeleton plasma membrane integral component of plasma membrane insulin receptor complex phosphatidylinositol 3-kinase complex cytoplasmic side of plasma membrane microtubule cytoskeleton membrane integral component of membrane extrinsic component of plasma membrane extrinsic component of membrane lamellipodium intrinsic component of membrane intrinsic component of plasma membrane extrinsic component of cytoplasmic side of plasma membrane cell leading edge torc1 complex torc2 complex membrane-enclosed lumen nuclear lumen vesicle protein-containing complex tsc1-tsc2 complex tor complex cell projection organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen receptor complex tubulin complex transferase complex, transferring phosphorus-containing groups intracellular organelle lumen nf-kappab complex cell periphery bcl-2 family protein complex bax complex side of membrane cytoplasmic side of membrane membrane protein complex plasma membrane protein complex plasma membrane signaling receptor complex cellular anatomical entity plasma membrane bounded cell projection catalytic complex protein kinase complex phosphatase complex phosphatidylinositol phosphate phosphatase complex transferase complex pten phosphatase complex adenocarcinoma carcinoma disease endometrioid carcinoma reproductive system disease neoplasm uterine carcinoma sign or symptom pain uterine neoplasm physical activity cardiovascular measurement anthropometric measurement leukocyte count body weights and measures body height hematological measurement lipid measurement complete blood cell count high density lipoprotein cholesterol measurement apolipoprotein a 1 measurement vitamin measurement lipoprotein measurement protein measurement neutrophil count inflammatory biomarker measurement lipid or lipoprotein measurement cardiovascular disease biomarker measurement epithelial neoplasm hdl cholesterol change measurement granulocyte count myeloid white cell count female reproductive system disease vitamin c measurement reproductive system neoplasm genital neoplasm, female endometrial carcinoma endometrial endometrioid carcinoma abnormality of body height abnormal morphology of female internal genitalia functional abnormality of the bladder abnormality of the bladder urinary incontinence abnormality of male external genitalia hydrocele testis abnormal testis morphology abnormal penis morphology long penis hypogonadotropic hypogonadism abnormality of the scrotum macroorchidism abnormality of the kidney abnormality of the genital system abnormality of the urinary system abnormality of reproductive system physiology tall stature renal cyst phenotypic abnormality abnormality of the genitourinary system abnormality of the uterus hypogonadism abnormality of the ovary ovarian cyst abnormality of the menstrual cycle amenorrhea polycystic ovaries abnormality of head or neck abnormality of the mouth abnormality of the tongue macroglossia narrow mouth abnormal oral cavity morphology abnormality of the dentition abnormal palate morphology open mouth high palate furrowed tongue abnormality of the head abnormality of the fontanelles or cranial sutures hydrocephalus abnormality of skull size macrocephaly dolichocephaly abnormality of the face long face abnormal mandible morphology abnormality of facial musculature round face abnormality of the orbital region hypertelorism facial asymmetry abnormality of the maxilla hypoplasia of the maxilla micrognathia abnormality of the outer ear abnormal location of ears abnormality of the inner ear tinnitus hearing abnormality hearing impairment abnormality of the nose low-set ears abnormal pinna morphology macrotia abnormal nasal bridge morphology abnormal morphology of the nasal alae anteverted nares abnormality of the neck abnormality of the eye abnormal retinal morphology abnormal cornea morphology strabismus abnormal eyelid morphology downslanted palpebral fissures abnormality of eye movement glaucoma abnormal conjunctiva morphology abnormality of vision visual impairment ptosis abnormal lens morphology cataract proptosis abnormality iris morphology progressive visual loss abnormal chorioretinal morphology abnormality of refraction retinal detachment myopia abnormal conjugate eye movement abnormal uvea morphology buphthalmos chorioretinal coloboma visual loss abnormality of the optic nerve coloboma abnormal sclera morphology ophthalmoparesis abnormality of the ear ophthalmoplegia abnormal choroid morphology blindness carious teeth abnormal dental enamel morphology abnormality of the nervous system behavioral abnormality emotional lability autism autistic behavior abnormal peripheral nervous system morphology abnormal thorax morphology abnormal sternum morphology pectus excavatum abnormality of the breast gynecomastia abnormality of the thymus impotence abnormal external genitalia abnormal internal genitalia abnormality of the endocrine system abnormality of the thyroid gland hypothyroidism decreased response to growth hormone stimulation test anterior hypopituitarism abnormality of the adrenal glands hyperthyroidism adrenal insufficiency goiter thyroid adenoma abnormality of the hypothalamus-pituitary axis increased circulating prolactin concentration diabetes insipidus abnormality of the skeletal system abnormality of the vertebral column abnormal skull morphology abnormality of the skin hyperpigmentation of the skin cafe-au-lait spot hyperkeratosis edema palmoplantar hyperkeratosis palmoplantar keratoderma melanocytic nevus abnormality of skin pigmentation abnormality of subcutaneous fat tissue lymphedema hirsutism telangiectasia hypopigmentation of the skin multiple lipomas hemangioma subcutaneous lipoma hypermelanotic macule cavernous hemangioma hypopigmented skin patches neurofibromas thickened skin papilledema developmental glaucoma abnormally large globe abnormal fundus morphology heterochromia iridis angioid streaks of the fundus visual field defect limbal dermoid abnormality of the hand brachydactyly syndactyly abnormality of the metacarpal bones abnormality of finger intellectual disability seizure ataxia intellectual disability, mild excessive daytime somnolence global developmental delay hemiparesis syncope gait disturbance abnormal cranial nerve morphology abnormal cerebellum morphology muscle weakness myoclonus tremor cerebral hemorrhage craniosynostosis abnormal joint morphology joint dislocation limitation of joint mobility abnormal hip joint morphology joint stiffness abnormal abdomen morphology subcutaneous nodule growth abnormality failure to thrive growth delay obesity disproportionate tall stature hemihypertrophy abnormal rib cage morphology asymmetry of the thorax abnormality of the integument abnormal hair morphology abnormality of the nail abnormality of the cardiovascular system sudden cardiac death cardiac arrest sudden death abnormality of the spleen splenomegaly abnormal foot morphology abnormality of toe hallux valgus weight loss abnormal metatarsal morphology abnormality of the hallux abnormality of blood and blood-forming tissues abnormal bleeding abnormality of metabolism/homeostasis abnormal thrombosis abnormal facial shape morphological central nervous system abnormality abnormality of the abdominal organs nausea and vomiting abnormal rectum morphology intention tremor abnormality of the respiratory system abnormal lung morphology abnormal lung lobation abnormal cerebral ventricle morphology abnormality of the spinal cord neurological speech impairment intracranial hemorrhage spinal cord compression pulmonary embolism generalized hirsutism abnormal intestine morphology abnormal large intestine morphology colonic diverticula abnormality of neuronal migration gray matter heterotopia headache intellectual disability, moderate action tremor memory impairment difficulty walking sleep disturbance abnormal brainstem morphology upper motor neuron dysfunction brain stem compression increased intracranial pressure abnormal stomach morphology abnormality of the vasculature abnormal venous morphology deep venous thrombosis abnormal pelvic girdle bone morphology scoliosis skeletal dysplasia neoplasm gastrointestinal carcinoma abnormal calvaria morphology abnormality of the immune system recurrent infections immunodeficiency kyphoscoliosis thin bony cortex abnormal respiratory system physiology kyphosis abnormality of limb bone morphology abnormality of the lower limb abnormality of the upper limb hip dislocation meningioma melanoma bladder carcinoma thyroid carcinoma uterine leiomyosarcoma decreased circulating acth level abnormal cerebrospinal fluid morphology abnormality of thyroid physiology breast carcinoma abnormality of the musculature abnormality of the wrist abnormal cortical bone morphology abnormal circulating hormone concentration myopathy decreased muscle mass abnormality of chromosome stability visceromegaly abnormal hip bone morphology abnormal form of the vertebral bodies abnormal bone structure spinal canal stenosis back pain abnormal vertebral morphology upper limb muscle weakness abnormality of connective tissue limb muscle weakness skeletal muscle hypertrophy myofibrillar myopathy myoclonic spasms nevus deviation of finger macrodactyly abnormal 5th finger morphology clinodactyly of the 5th finger functional motor deficit involuntary movements short stature abnormality of body weight increased body weight decreased body weight cachexia abnormal anterior eye segment morphology abnormal posterior eye segment morphology reduced consciousness/confusion hemiplegia/hemiparesis neoplasm of the nervous system hamartomatous polyposis abnormality of the sense of smell thrombophlebitis arterial thrombosis cranial hyperostosis mandibular hyperostosis progressive macrocephaly calvarial hyperostosis craniofacial hyperostosis venous thrombosis abnormal nasal morphology bowel diverticulosis abnormality of the synovia intestinal polyp depressed nasal bridge abnormal nostril morphology capillary hemangioma cellular immunodeficiency facial hyperostosis renal cell carcinoma generalized hyperkeratosis abnormal hand morphology finger syndactyly abnormal number of teeth progressive pulmonary function impairment hereditary nonpolyposis colorectal carcinoma follicular thyroid carcinoma transitional cell carcinoma of the bladder malignant gastrointestinal tract tumors neoplasm of the stomach ovarian papillary adenocarcinoma cranial nerve paralysis lower limb muscle weakness focal-onset seizure neoplasm of the gastrointestinal tract neoplasm of the genitourinary tract irregular hyperpigmentation hypertrophy of skin of soles generalized hyperpigmentation hemangiomatosis depigmentation/hyperpigmentation of skin abnormal subcutaneous fat tissue distribution plantar hyperkeratosis multiple cafe-au-lait spots reduced visual acuity ocular anterior segment dysgenesis abnormality of retinal pigmentation weak extraocular muscles central heterochromia retinal nonattachment slow decrease in visual acuity abnormal iris pigmentation abnormality of the palpebral fissures neoplasm of the skin decreased circulating cortisol level reduced circulating prolactin concentration primary adrenal insufficiency decreased serum estradiol hypothalamic hypothyroidism secondary growth hormone deficiency pituitary hypothyroidism puberty and gonadal disorders enlarged polycystic ovaries aplasia/hypoplasia involving the skeleton aplasia/hypoplasia involving bones of the skull aplasia/hypoplasia of the mandible abnormal axial skeleton morphology aplasia/hypoplasia affecting bones of the axial skeleton abnormal adipose tissue morphology abnormality of the musculature of the limbs deviation of the 5th finger deviation of the hand or of fingers of the hand retinal hamartoma adenoma sebaceum bladder neoplasm renal neoplasm tooth agenesis abnormality of upper limb joint thick nasal alae deviation of the hallux abnormality of the female genitalia abnormality of the male genitalia sirenomelia metatarsus valgus hyperpituitarism thymus hyperplasia transient global amnesia weakness due to upper motor neuron dysfunction hamartoma hamartoma of the eye skin tags fibroma angiofibromas fibroadenoma of the breast neoplasm of the skeletal system facial palsy abnormal meningeal morphology abnormality of the diencephalon abnormality of thalamus morphology abnormality of the curvature of the vertebral column palmar hyperkeratosis uterine neoplasm gonadal neoplasm urinary tract neoplasm genital neoplasm testicular neoplasm epidermal nevus abnormality of the seventh cranial nerve hemifacial spasm abnormality of the upper urinary tract abnormality of the lower urinary tract abnormal external nose morphology abnormality of immune system physiology chromosomal breakage induced by ionizing radiation abnormal cellular physiology abnormality of the gastrointestinal tract abnormal cardiovascular system physiology abnormality of blood circulation internal hemorrhage abnormality of fluid regulation abnormal circulating adrenocorticotropin concentration abnormality of dental structure abnormality of skin morphology abnormal epidermal morphology increased sensitivity to ionizing radiation abnormality of skin adnexa morphology vascular skin abnormality abnormal hindbrain morphology abnormal metencephalon morphology abnormal digit morphology abnormality of cranial sutures abnormality of mouth size abnormality of mouth shape generalized abnormality of skin localized skin lesion regional abnormality of skin abnormal hair quantity epidermal thickening abnormality of the internal auditory canal narrow internal auditory canal morphological abnormality of the inner ear abnormal central motor function abnormality of coordination abnormality of higher mental function abdominal symptom arrhythmia abnormality of joint mobility abnormal central sensory function abnormality of circulating cortisol level abnormality of adrenal physiology abnormality of the anterior pituitary neoplasm of the anterior pituitary abnormality of the posterior pituitary neoplasm of the posterior pituitary abnormal thyroid morphology central hypothyroidism neoplasm by histology neoplasm by anatomical site abnormality of facial soft tissue abnormal muscle physiology abnormal skeletal muscle morphology abnormal facial skeleton morphology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology short digit lipomatous tumor lipoma bone cyst abnormality of circulating glucocorticoid level endometrial carcinoma abnormal renal morphology abnormal reproductive system morphology oculomotor nerve palsy abnormal respiratory system morphology abnormal hypothalamus physiology fibrous tissue neoplasm abnormal homeostasis abnormal eye morphology abnormal eye physiology hemianopia abnormality of brain morphology abnormality of the pituitary gland abnormal size of pituitary gland enlarged pituitary gland pain abnormal nervous system physiology abnormal nervous system morphology abnormality of intracranial pressure abnormal inflammatory response increased inflammatory response abnormal brain positron emission tomography abnormal brain fdg positron emission tomography focal t2 hypointense thalamic lesion abnormal thalamic mri signal intensity morphological abnormality of the gastrointestinal tract venous malformation anorectal anomaly macule papilloma neurodevelopmental delay neurodevelopmental abnormality abnormal optic disc morphology varicocele abnormal male reproductive system physiology abnormal vascular morphology abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology epidermal acanthosis abnormal circulating estrogen level abnormal serum estradiol constitutional symptom abnormal cellular phenotype abnormal spleen morphology abnormal female reproductive system physiology clinodactyly abnormal circulating testosterone concentration abnormal endometrium morphology abnormal vascular physiology kinetic tremor abnormality of muscle size large intestinal polyposis lower extremity joint dislocation weakness of facial musculature abnormal circulating gonadotropin concentration decreased circulating gonadotropin concentration decreased circulating follicle stimulating hormone concentration decreased circulating luteinizing hormone level abnormal circulating luteinizing hormone concentration abnormal circulating follicle-stimulating hormone concentration abnormal circulating androgen level decreased circulating androgen concentration soft tissue sarcoma heteronymous hemianopia bitemporal hemianopia visual acuity test abnormality abnormal visual field test abnormal kinetic perimetry test abnormal ocular adnexa morphology hamartoma of the orbital region abnormality of cardiovascular system morphology ear pain abnormal jaw morphology abnormal tongue morphology abnormality of pulmonary circulation abnormality on pulmonary function testing abnormality of cardiovascular system electrophysiology impairment of activities of daily living impaired continence abnormal ovarian morphology abnormal endocrine physiology abnormal response to endocrine stimulation test abnormal breast morphology abnormal uterus morphology impairment in personality functioning abnormal ear morphology abnormal ear physiology abnormal oral morphology abnormal cranial nerve physiology abnormal fifth cranial nerve physiology abnormality of the ocular adnexa unusual infection pulmonary cyst male reproductive system neoplasm female reproductive system neoplasm abnormality of the musculoskeletal system neuralgia abnormal blood vessel morphology abnormal circulating sex hormone concentration abnormal joint physiology chromosome breakage finger clinodactyly abnormality of limbs abnormality of limb bone abnormal lower limb bone morphology abnormal upper limb bone morphology hypopituitarism abnormal prolactin level decreased serum testosterone concentration increased head circumference abnormal skin morphology of the palm neoplasm of the pituitary gland male sexual dysfunction abnormal mediastinum morphology abnormality of the thoracic cavity abnormality of the testis size pain in head and neck region neoplasm of the central nervous system neoplasm of the peripheral nervous system intracranial meningioma spinal meningioma neoplasm of the eye neoplasm of the breast abnormality of movement arteriovenous malformation neoplasm of the thyroid gland sarcoma leiomyosarcoma abnormality of lower limb joint deviation of toes neoplasm of the thymus neoplasm of the lung cognitive impairment abnormal forebrain morphology asymmetric growth lower limb asymmetry upper limb asymmetry neoplasm of the endocrine system mucosal telangiectasiae neoplasm of the respiratory system ovarian neoplasm germinoma dysgerminoma erectile dysfunction thyroiditis neoplasm of the tongue neoplasm of the oral cavity abnormal cerebral vascular morphology trigeminal neuralgia germ cell neoplasia large face bronchogenic cyst vascular neoplasm neoplasm of the rectum visceral angiomatosis abnormality of the lymphatic system lymphangioma hyperostosis exostoses conjunctival hamartoma neoplasm of the large intestine benign neoplasm of the central nervous system neoplasm of the male external genitalia abnormal emotion/affect behavior abnormal palm morphology abnormality of the plantar skin of foot enlarged ovaries abnormality of globe location abnormality of globe size slanting of the palpebral fissure intestinal polyposis neoplasm of fatty tissue papule skin nodule colorectal polyposis asymmetry of iris pigmentation brain imaging abnormality abnormal odontoid tissue morphology abnormal lung development endometrial disorder reproductive system cancer uterine disorder uterine cancer cancer endometrial cancer female reproductive system neoplasm endometrium neoplasm neoplastic disease or syndrome glandular cell neoplasm cancer or benign tumor acetylation alternative splicing apoptosis atp-binding carbohydrate metabolism developmental protein glucose metabolism glycogen biosynthesis glycogen metabolism glycoprotein kinase membrane neurogenesis nucleus nucleotide-binding phosphoprotein proto-oncogene serine/threonine-protein kinase sugar transport transferase translation regulation transport ubl conjugation cytoplasm cell membrane disulfide bond isopeptide bond protein kinase domain agc-kinase, c-terminal pleckstrin homology domain serine/threonine-protein kinase, active site protein kinase-like domain superfamily ph-like domain superfamily protein kinase, atp binding site protein kinase, c-terminal protein kinase b alpha, catalytic domain protein kinase b, pleckstrin homology domain extension to ser/thr-type protein kinases serine/threonine protein kinases, catalytic domain pleckstrin homology domain. polysaccharide biosynthetic process regulation of protein phosphorylation positive regulation of protein phosphorylation carbohydrate metabolic process polysaccharide metabolic process glycogen metabolic process glycogen biosynthetic process regulation of glycogen biosynthetic process monosaccharide metabolic process glucose metabolic process cellular glucan metabolic process generation of precursor metabolites and energy regulation of carbohydrate metabolic process energy reserve metabolic process regulation of translation protein phosphorylation phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process transport intracellular protein transport apoptotic process plasma membrane organization cell communication signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway ensheathment of neurons multicellular organism development nervous system development peripheral nervous system development protein localization metabolic process cell death positive regulation of cell population proliferation insulin receptor signaling pathway axon ensheathment carbohydrate transport biosynthetic process macromolecule biosynthetic process glucan biosynthetic process response to radiation response to light stimulus response to abiotic stimulus response to light intensity response to high light intensity response to endogenous stimulus response to hormone tissue development regulation of biosynthetic process positive regulation of biosynthetic process positive regulation of metabolic process regulation of catabolic process positive regulation of catabolic process cellular process glial cell differentiation response to organic substance response to organonitrogen compound endomembrane system organization regulation of gene expression regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process positive regulation of phosphorus metabolic process regulation of cellular ketone metabolic process positive regulation of macromolecule metabolic process post-transcriptional regulation of gene expression positive regulation of organelle organization regulation of cellular carbohydrate metabolic process positive regulation of cellular carbohydrate metabolic process regulation of long-chain fatty acid import across plasma membrane negative regulation of long-chain fatty acid import across plasma membrane regulation of glucose transmembrane transport positive regulation of glucose transmembrane transport regulation of glucose metabolic process positive regulation of glucose metabolic process positive regulation of mitochondrial membrane potential regulation of cell death regulation of glucan biosynthetic process programmed cell death schwann cell differentiation schwann cell development protein transport energy derivation by oxidation of organic compounds cellular component organization carbohydrate biosynthetic process phosphorylation peptidyl-serine phosphorylation peptidyl-amino acid modification peptidyl-serine modification regulation of lipid metabolic process regulation of fatty acid metabolic process regulation of phosphate metabolic process regulation of metabolic process hexose metabolic process protein metabolic process glial cell development neurogenesis myelination in peripheral nervous system signaling cell differentiation regulation of cell migration positive regulation of cell migration epithelial cell differentiation mammary gland development regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process regulation of cellular catabolic process positive regulation of cellular catabolic process regulation of vesicle fusion positive regulation of vesicle fusion regulation of protein modification process positive regulation of protein modification process regulation of fatty acid beta-oxidation positive regulation of fatty acid beta-oxidation peripheral nervous system myelin maintenance peripheral nervous system axon ensheathment regulation of lipid transport negative regulation of lipid transport regulation of intracellular transport positive regulation of intracellular transport multicellular organismal process developmental process response to insulin cellular response to insulin stimulus cellular response to hormone stimulus regulation of localization regulation of protein localization regulation of polysaccharide metabolic process regulation of polysaccharide biosynthetic process regulation of organic acid transport negative regulation of organic acid transport macromolecule localization regulation of organelle organization regulation of intracellular protein transport cellular polysaccharide biosynthetic process regulation of cellular amide metabolic process cellular carbohydrate biosynthetic process cellular macromolecule biosynthetic process regulation of transmembrane transport negative regulation of transmembrane transport positive regulation of transmembrane transport intracellular signal transduction protein modification process regulation of locomotion positive regulation of locomotion gliogenesis regulation of cell population proliferation response to chemical regulation of phosphorylation positive regulation of phosphorylation regulation of membrane potential myelination regulation of apoptotic process negative regulation of apoptotic process regulation of programmed cell death negative regulation of programmed cell death positive regulation of catalytic activity regulation of gtpase activity macromolecule metabolic process myelin maintenance regulation of carbohydrate biosynthetic process macromolecule modification response to peptide hormone regulation of generation of precursor metabolites and energy protein kinase b signaling positive regulation of gtpase activity glucan metabolic process positive regulation of molecular function cellular metabolic process primary metabolic process cellular biosynthetic process cellular macromolecule metabolic process cellular carbohydrate metabolic process cellular polysaccharide metabolic process small molecule metabolic process establishment of protein localization fat cell differentiation positive regulation of glycogen biosynthetic process positive regulation of lipid metabolic process positive regulation of membrane potential positive regulation of carbohydrate metabolic process positive regulation of fatty acid metabolic process positive regulation of phosphate metabolic process regulation of fatty acid oxidation positive regulation of fatty acid oxidation regulation of glucose import positive regulation of glucose import intracellular transport cell development animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process system development gland development anatomical structure development cellular developmental process regulation of biological process regulation of catalytic activity regulation of cellular process response to stimulus regulation of lipid catabolic process positive regulation of lipid catabolic process regulation of transport positive regulation of transport negative regulation of transport regulation of cellular component organization positive regulation of cellular component organization regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process localization positive regulation of protein transport regulation of protein transport establishment of localization regulation of protein metabolic process positive regulation of protein metabolic process regulation of hydrolase activity positive regulation of hydrolase activity neuron apoptotic process cellular localization establishment of localization in cell localization within membrane cellular response to stimulus regulation of cell cycle regulation of mitochondrial membrane potential transmembrane transport regulation of macromolecule metabolic process regulation of cellular localization epithelium development negative regulation of cell death regulation of vesicle-mediated transport mammary gland epithelial cell differentiation membrane organization mammary gland epithelium development regulation of small molecule metabolic process positive regulation of small molecule metabolic process intracellular protein transmembrane transport biological regulation regulation of biological quality regulation of molecular function regulation of establishment of protein localization cellular macromolecule localization regulation of glycogen metabolic process positive regulation of glycogen metabolic process cellular response to chemical stimulus neuron death cellular response to abiotic stimulus cellular response to organic substance cellular response to peptide hormone stimulus cellular response to organonitrogen compound cellular response to radiation cellular response to light stimulus cellular response to light intensity cellular response to high light intensity cellular response to endogenous stimulus organic substance transport organic substance metabolic process nitrogen compound transport protein transmembrane transport cellular component organization or biogenesis protein localization to membrane protein localization to plasma membrane regulation of primary metabolic process regulation of protein targeting to membrane positive regulation of protein targeting to membrane positive regulation of intracellular protein transport activation of gtpase activity retinal rod cell apoptotic process cellular response to environmental stimulus regulation of long-chain fatty acid import into cell negative regulation of long-chain fatty acid import into cell organonitrogen compound metabolic process organic substance biosynthetic process response to peptide cellular response to peptide response to nitrogen compound cellular response to nitrogen compound response to oxygen-containing compound cellular response to oxygen-containing compound regulation of protein targeting positive regulation of protein localization positive regulation of establishment of protein localization regulation of protein localization to membrane positive regulation of protein localization to membrane regulation of lipid localization negative regulation of lipid localization retinal cell apoptotic process protein localization to cell periphery regulation of cellular macromolecule biosynthetic process regulation of cell motility positive regulation of cell motility regulation of fatty acid transport negative regulation of fatty acid transport nucleotide binding catalytic activity protein kinase activity protein serine/threonine kinase activity binding atp binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding ion binding anion binding cation binding metal ion binding organic cyclic compound binding carbohydrate derivative binding protein serine kinase activity catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding ruffle intracellular anatomical structure nucleus nucleoplasm cytoplasm endosome early endosome cytosol plasma membrane cell cortex endomembrane system membrane cell leading edge cell projection membrane leading edge membrane cytoplasmic vesicle membrane-enclosed lumen nuclear lumen vesicle ruffle membrane protein-containing complex cell projection organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen intracellular organelle lumen cell periphery intracellular vesicle plasma membrane region cellular anatomical entity plasma membrane bounded cell projection mixed, incl. basic-leucine zipper domain, and mapk signaling pathway mixed, incl. basic-leucine zipper domain, and mapk signaling pathway mixed, incl. regulation of localization of foxo transcription factors, and salt-inducible kinase, catalytic domain mixed, incl. akt phosphorylates targets in the nucleus, and tcl1/mtcp1 superfamily protein kinase b, pleckstrin homology domain, and serine/threonine phosphatases, family 2c, catalytic domain egfr tyrosine kinase inhibitor resistance endocrine resistance platinum drug resistance mapk signaling pathway erbb signaling pathway ras signaling pathway rap1 signaling pathway cgmp-pkg signaling pathway camp signaling pathway chemokine signaling pathway hif-1 signaling pathway foxo signaling pathway sphingolipid signaling pathway phospholipase d signaling pathway autophagy - animal mtor signaling pathway pi3k-akt signaling pathway ampk signaling pathway apoptosis longevity regulating pathway longevity regulating pathway - multiple species cellular senescence adrenergic signaling in cardiomyocytes vegf signaling pathway apelin signaling pathway osteoclast differentiation focal adhesion signaling pathways regulating pluripotency of stem cells platelet activation toll-like receptor signaling pathway c-type lectin receptor signaling pathway jak-stat signaling pathway t cell receptor signaling pathway b cell receptor signaling pathway fc epsilon ri signaling pathway fc gamma r-mediated phagocytosis tnf signaling pathway neurotrophin signaling pathway cholinergic synapse dopaminergic synapse insulin signaling pathway progesterone-mediated oocyte maturation estrogen signaling pathway prolactin signaling pathway thyroid hormone signaling pathway adipocytokine signaling pathway glucagon signaling pathway regulation of lipolysis in adipocytes relaxin signaling pathway gnrh secretion insulin resistance non-alcoholic fatty liver disease age-rage signaling pathway in diabetic complications growth hormone synthesis, secretion and action carbohydrate digestion and absorption alzheimer disease spinocerebellar ataxia shigellosis salmonella infection yersinia infection chagas disease toxoplasmosis tuberculosis hepatitis c hepatitis b measles human cytomegalovirus infection influenza a human papillomavirus infection human t-cell leukemia virus 1 infection kaposi sarcoma-associated herpesvirus infection herpes simplex virus 1 infection epstein-barr virus infection human immunodeficiency virus 1 infection pathways in cancer proteoglycans in cancer colorectal cancer renal cell carcinoma pancreatic cancer endometrial cancer glioma prostate cancer melanoma chronic myeloid leukemia acute myeloid leukemia small cell lung cancer non-small cell lung cancer breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer choline metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer fluid shear stress and atherosclerosis apoptosis intrinsic pathway for apoptosis pkb-mediated events pi3k cascade activation of bad and translocation to mitochondria irs-mediated signalling activation of bh3-only proteins signaling by erbb2 pip3 activates akt signaling developmental biology cytokine signaling in immune system adaptive immune system downregulation of erbb2:erbb3 signaling translocation of slc2a4 (glut4) to the plasma membrane signal transduction cell cycle disease activation of akt2 mtor signalling pde3b signalling inhibition of tsc complex formation by pkb immune system regulation of beta-cell development signaling by vegf signaling by wnt akt phosphorylates targets in the cytosol akt phosphorylates targets in the nucleus negative regulation of the pi3k/akt network membrane trafficking tcf dependent signaling in response to wnt regulation of gene expression in beta cells akt-mediated inactivation of foxo1a generic transcription pathway pi3k/akt signaling in cancer cellular responses to stress signaling by type 1 insulin-like growth factor 1 receptor (igf1r) igf1r signaling cascade irs-related events triggered by igf1r transcriptional regulation by tp53 signaling by gpcr deactivation of the beta-catenin transactivating complex gpcr downstream signalling costimulation by the cd28 family cd28 co-stimulation cd28 dependent pi3k/akt signaling ctla4 inhibitory signaling g beta:gamma signalling through pi3kgamma g-protein beta:gamma signalling vegfa-vegfr2 pathway mitotic g1 phase and g1/s transition vegfr2 mediated vascular permeability programmed cell death tp53 regulates metabolic genes regulation of tp53 activity vesicle-mediated transport diseases of signal transduction by growth factor receptors and second messengers infectious disease constitutive signaling by akt1 e17k in cancer regulation of tp53 degradation regulation of tp53 activity through acetylation regulation of tp53 activity through association with co-factors regulation of tp53 expression and degradation pten regulation cyclin e associated events during g1/s transition g1/s transition s phase cell cycle, mitotic cyclin a:cdk2-associated events at s phase entry rna polymerase ii transcription gene expression (transcription) insulin receptor signalling cascade signaling by insulin receptor downregulation of erbb2 signaling rab gefs exchange gtp for gdp on rabs transcriptional regulation by runx2 esr-mediated signaling runx2 regulates genes involved in cell migration regulation of pten stability and activity cellular responses to stimuli intracellular signaling by second messengers signaling by nuclear receptors signaling by receptor tyrosine kinases rab regulation of trafficking extra-nuclear estrogen signaling flt3 signaling foxo-mediated transcription regulation of localization of foxo transcription factors estrogen-dependent nuclear events downstream of esr-membrane signaling sars-cov infections sars-cov-2 infection sars-cov-2-host interactions cellular response to chemical stress keap1-nfe2l2 pathway sars-cov-2 targets host intracellular signalling and regulatory pathways amp-activated protein kinase signaling micrornas in cardiomyocyte hypertrophy transcription factors regulate mirnas related to cardiac hypertrophy integrin-mediated cell adhesion rankl/rank signaling pathway tnf-related weak inducer of apoptosis (tweak) signaling pathway alzheimers disease and mirna effects glioblastoma signaling pathways s1p receptor signal transduction cardiac hypertrophic response focal adhesion insulin signaling in adipocytes (normal condition) insulin signaling in adipocytes (diabetic condition) mapk signaling pathway angiopoietin-like protein 8 regulatory pathway chemokine signaling pathway embryonic stem cell pluripotency pathways focal adhesion: pi3k-akt-mtor-signaling pathway lipid metabolism pathway endometrial cancer pi3k-akt signaling pathway met in type 1 papillary renal cell carcinoma chromosomal and microsatellite instability in colorectal cancer  ras signaling epithelial to mesenchymal transition in colorectal cancer non-small cell lung cancer breast cancer pathway pancreatic adenocarcinoma pathway nonalcoholic fatty liver disease resistin as a regulator of inflammation relationship between inflammation, cox-2 and egfr synaptic signaling pathways associated with autism spectrum disorder neural crest cell migration during development neural crest cell migration in cancer translation inhibitors in chronically activated pdgfra cells small cell lung cancer hepatitis b infection head and neck squamous cell carcinoma melanoma egfr tyrosine kinase inhibitor resistance insulin signaling kisspeptin/kisspeptin receptor system in the ovary malignant pleural mesothelioma congenital generalized lipodystrophy familial partial lipodystrophy alzheimers disease nrp1-triggered signaling pathways in pancreatic cancer sildenafil treatment female steroid hormones in cardiomyocyte energy metabolism erbb signaling pathway dna damage response (only atm dependent) toll-like receptor signaling pathway disease of metabolism monogenic disease familial partial lipodystrophy autosomal dominant disease autosomal genetic disease partial lipodystrophy disease of cellular proliferation cancer musculoskeletal system disease carbohydrate metabolic disorder disease glucose metabolism disease genetic disease connective tissue disease inherited metabolic disorder disease of anatomical entity lipodystrophy diabetes mellitus hypoglycemia tissues, cell types and enzyme sources animal reproductive system female reproductive system brain embryonic structure cervical carcinoma cell central nervous system head organism form digestive gland epithelium fetus gland hematopoietic system blood cancer cell bone marrow cancer cell integument lymphocytic leukemia cell liver lymph placenta leukemia cell nervous system endocrine gland whole body viscus chronic lymphocytic leukemia cell urogenital system internal female genital organ ruffle intracellular nucleus cytoplasm cytosol plasma membrane cell cortex membrane cell leading edge cell projection membrane leading edge membrane ruffle membrane protein-containing complex cell projection organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle cell periphery plasma membrane region cellular anatomical entity plasma membrane bounded cell projection disease metabolic disease nutritional disorder obesity vital signs leukocyte count blood pressure hematological measurement complete blood cell count lymphocyte count protein measurement t-tau measurement diastolic blood pressure alzheimers disease biomarker measurement cerebrospinal fluid biomarker measurement infectious disease biomarker mental or behavioural disorder biomarker t-tau:beta-amyloid 1-42 ratio measurement abnormal morphology of female internal genitalia abnormality of the genital system abnormality of reproductive system physiology phenotypic abnormality abnormality of the genitourinary system abnormality of the ovary ovarian cyst abnormality of the menstrual cycle polycystic ovaries abnormality of the nervous system abnormality of the breast gynecomastia abnormal internal genitalia abnormality of the endocrine system diabetes mellitus insulin-resistant diabetes mellitus insulin resistance oligomenorrhea abnormality of the skin acanthosis nigricans thickened skin seizure coma hypoglycemic coma abnormality of the liver hepatic steatosis abnormal abdomen morphology growth abnormality obesity large for gestational age hemihypertrophy abnormality of the integument abnormality of the cardiovascular system abnormality of metabolism/homeostasis hypoglycemia glucose intolerance truncal obesity nonketotic hypoglycemia hypoketotic hypoglycemia neonatal hypoglycemia abnormality of the abdominal organs hypertriglyceridemia hypoglycemic seizures hepatomegaly abnormality of the vasculature abnormality of the immune system hyperlipidemia abnormal circulating hormone concentration abnormal circulating lipid concentration visceromegaly decreased serum leptin abnormality of connective tissue abnormality of body weight increased body weight abnormal circulating leptin concentration reduced consciousness/confusion type ii diabetes mellitus lipid accumulation in hepatocytes increased hepatic glycogen content increased intraabdominal fat increased connective tissue abnormal adipose tissue morphology lipodystrophy increased adipose tissue abnormality of the female genitalia abnormal glucose homeostasis abnormal blood glucose concentration abnormality of skin morphology symptomatic seizures epidermal thickening abnormality of higher mental function abnormal reproductive system morphology abnormal homeostasis abnormal nervous system physiology abnormality of the digestive system abnormal female reproductive system physiology abnormal adiponectin level decreased adiponectin level enlarged tonsils abnormal ovarian morphology abnormal breast morphology storage in hepatocytes abnormal waist to hip ratio increased waist to hip ratio abnormal circulating metabolite concentration abnormality of the musculoskeletal system abnormality of limbs obsolete abnormal circulating insulin level asymmetric growth abnormality of the lymphatic system abnormality of the tonsils abnormal liver morphology abnormal hepatic glycogen storage overnutrition acetylation alternative splicing apoptosis atp-binding carbohydrate metabolism developmental protein diabetes mellitus glucose metabolism glycogen biosynthesis glycogen metabolism glycoprotein kinase manganese membrane metal-binding nucleus nucleotide-binding phosphoprotein proto-oncogene serine/threonine-protein kinase sugar transport transferase translation regulation transport ubl conjugation cytoplasm endosome cell membrane disulfide bond protein kinase domain agc-kinase, c-terminal pleckstrin homology domain serine/threonine-protein kinase, active site protein kinase-like domain superfamily ph-like domain superfamily protein kinase, atp binding site protein kinase, c-terminal protein kinase b beta, catalytic domain protein kinase b, pleckstrin homology domain extension to ser/thr-type protein kinases serine/threonine protein kinases, catalytic domain pleckstrin homology domain. mitochondrial genome maintenance tissue homeostasis regulation of endothelial cell proliferation positive regulation of endothelial cell proliferation protein phosphorylation phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process organelle organization mitochondrion organization cell communication signal transduction multicellular organism development nervous system development central nervous system development brain development metabolic process positive regulation of cell population proliferation regulation of cell size anatomical structure morphogenesis animal organ morphogenesis negative regulation of metabolic process regulation of signal transduction positive regulation of signal transduction cellular process regulation of endothelial cell migration positive regulation of endothelial cell migration regulation of epithelial cell migration positive regulation of epithelial cell migration regulation of cell communication positive regulation of cell communication cellular component organization phosphorylation peptidyl-serine phosphorylation peptidyl-amino acid modification peptidyl-serine modification regulation of metabolic process protein metabolic process regulation of anatomical structure morphogenesis regulation of signaling signaling positive regulation of signaling regulation of cell migration positive regulation of cell migration regulation of cellular metabolic process negative regulation of cellular metabolic process regulation of tor signaling positive regulation of tor signaling multicellular organismal process developmental process regulation of cellular component size intracellular signal transduction protein modification process regulation of locomotion positive regulation of locomotion regulation of cell population proliferation homeostatic process macromolecule metabolic process macromolecule modification regulation of blood vessel endothelial cell migration positive regulation of blood vessel endothelial cell migration cellular metabolic process primary metabolic process regulation of angiogenesis positive regulation of angiogenesis positive regulation of cell size animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process regulation of response to stimulus positive regulation of response to stimulus system development brain morphogenesis anatomical structure development multicellular organismal homeostasis homeostasis of number of cells homeostasis of number of cells within a tissue regulation of epithelial cell proliferation positive regulation of epithelial cell proliferation regulation of biological process regulation of developmental process regulation of cellular process response to stimulus positive regulation of developmental process regulation of multicellular organismal process positive regulation of multicellular organismal process cellular response to stimulus anatomical structure homeostasis head development biological regulation regulation of biological quality organic substance metabolic process cellular component organization or biogenesis regulation of cell migration involved in sprouting angiogenesis positive regulation of cell migration involved in sprouting angiogenesis regulation of anatomical structure size regulation of vasculature development organonitrogen compound metabolic process regulation of intracellular signal transduction positive regulation of intracellular signal transduction positive regulation of vasculature development regulation of vascular endothelial cell proliferation positive regulation of vascular endothelial cell proliferation regulation of artery morphogenesis positive regulation of artery morphogenesis regulation of multicellular organismal development regulation of cell motility positive regulation of cell motility regulation of cellular senescence negative regulation of cellular senescence nucleotide binding catalytic activity protein kinase activity protein serine/threonine kinase activity binding atp binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding ion binding anion binding organic cyclic compound binding carbohydrate derivative binding protein serine kinase activity catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding intracellular anatomical structure nucleus cytoplasm membrane organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle cellular anatomical entity mixed, incl. basic-leucine zipper domain, and mapk signaling pathway mixed, incl. basic-leucine zipper domain, and mapk signaling pathway mixed, incl. regulation of localization of foxo transcription factors, and salt-inducible kinase, catalytic domain mixed, incl. akt phosphorylates targets in the nucleus, and tcl1/mtcp1 superfamily protein kinase b, pleckstrin homology domain, and serine/threonine phosphatases, family 2c, catalytic domain egfr tyrosine kinase inhibitor resistance endocrine resistance platinum drug resistance mapk signaling pathway erbb signaling pathway ras signaling pathway rap1 signaling pathway cgmp-pkg signaling pathway camp signaling pathway chemokine signaling pathway hif-1 signaling pathway foxo signaling pathway sphingolipid signaling pathway phospholipase d signaling pathway autophagy - animal mtor signaling pathway pi3k-akt signaling pathway ampk signaling pathway apoptosis longevity regulating pathway longevity regulating pathway - multiple species cellular senescence adrenergic signaling in cardiomyocytes vegf signaling pathway apelin signaling pathway osteoclast differentiation focal adhesion signaling pathways regulating pluripotency of stem cells platelet activation toll-like receptor signaling pathway c-type lectin receptor signaling pathway jak-stat signaling pathway t cell receptor signaling pathway b cell receptor signaling pathway fc epsilon ri signaling pathway fc gamma r-mediated phagocytosis tnf signaling pathway neurotrophin signaling pathway cholinergic synapse dopaminergic synapse insulin signaling pathway progesterone-mediated oocyte maturation estrogen signaling pathway prolactin signaling pathway thyroid hormone signaling pathway adipocytokine signaling pathway glucagon signaling pathway regulation of lipolysis in adipocytes relaxin signaling pathway gnrh secretion insulin resistance non-alcoholic fatty liver disease age-rage signaling pathway in diabetic complications growth hormone synthesis, secretion and action carbohydrate digestion and absorption alzheimer disease spinocerebellar ataxia shigellosis salmonella infection yersinia infection chagas disease toxoplasmosis tuberculosis hepatitis c hepatitis b measles human cytomegalovirus infection influenza a human papillomavirus infection human t-cell leukemia virus 1 infection kaposi sarcoma-associated herpesvirus infection herpes simplex virus 1 infection epstein-barr virus infection human immunodeficiency virus 1 infection pathways in cancer proteoglycans in cancer colorectal cancer renal cell carcinoma pancreatic cancer endometrial cancer glioma prostate cancer melanoma chronic myeloid leukemia acute myeloid leukemia small cell lung cancer non-small cell lung cancer breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer choline metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer fluid shear stress and atherosclerosis apoptosis intrinsic pathway for apoptosis activation of bad and translocation to mitochondria activation of bh3-only proteins signaling by erbb2 pip3 activates akt signaling developmental biology cytokine signaling in immune system adaptive immune system downregulation of erbb2:erbb3 signaling signal transduction cell cycle disease immune system regulation of beta-cell development signaling by vegf akt phosphorylates targets in the cytosol akt phosphorylates targets in the nucleus negative regulation of the pi3k/akt network membrane trafficking regulation of gene expression in beta cells akt-mediated inactivation of foxo1a generic transcription pathway pi3k/akt signaling in cancer cellular responses to stress transcriptional regulation by tp53 signaling by gpcr gpcr downstream signalling costimulation by the cd28 family cd28 co-stimulation cd28 dependent pi3k/akt signaling ctla4 inhibitory signaling g beta:gamma signalling through pi3kgamma g-protein beta:gamma signalling vegfa-vegfr2 pathway mitotic g1 phase and g1/s transition vegfr2 mediated vascular permeability programmed cell death tp53 regulates metabolic genes regulation of tp53 activity vesicle-mediated transport diseases of signal transduction by growth factor receptors and second messengers infectious disease constitutive signaling by akt1 e17k in cancer regulation of tp53 degradation regulation of tp53 activity through acetylation regulation of tp53 activity through association with co-factors regulation of tp53 expression and degradation pten regulation cyclin e associated events during g1/s transition g1/s transition s phase cell cycle, mitotic cyclin a:cdk2-associated events at s phase entry rna polymerase ii transcription gene expression (transcription) downregulation of erbb2 signaling rab gefs exchange gtp for gdp on rabs transcriptional regulation by runx2 esr-mediated signaling runx2 regulates genes involved in cell migration regulation of pten stability and activity cellular responses to stimuli intracellular signaling by second messengers signaling by nuclear receptors signaling by receptor tyrosine kinases rab regulation of trafficking extra-nuclear estrogen signaling flt3 signaling foxo-mediated transcription regulation of localization of foxo transcription factors estrogen-dependent nuclear events downstream of esr-membrane signaling sars-cov infections sars-cov-2 infection sars-cov-2-host interactions cellular response to chemical stress keap1-nfe2l2 pathway sars-cov-2 targets host intracellular signalling and regulatory pathways integrin-mediated cell adhesion alzheimers disease and mirna effects glioblastoma signaling pathways s1p receptor signal transduction nanoparticle-mediated activation of receptor signaling focal adhesion overview of nanoparticle effects mapk signaling pathway chemokine signaling pathway embryonic stem cell pluripotency pathways focal adhesion: pi3k-akt-mtor-signaling pathway lipid metabolism pathway mirna regulation of prostate cancer signaling pathways endometrial cancer pi3k-akt signaling pathway met in type 1 papillary renal cell carcinoma chromosomal and microsatellite instability in colorectal cancer  ras signaling epithelial to mesenchymal transition in colorectal cancer non-small cell lung cancer breast cancer pathway pancreatic adenocarcinoma pathway nonalcoholic fatty liver disease resistin as a regulator of inflammation relationship between inflammation, cox-2 and egfr synaptic signaling pathways associated with autism spectrum disorder neural crest cell migration during development neural crest cell migration in cancer translation inhibitors in chronically activated pdgfra cells small cell lung cancer hepatitis b infection head and neck squamous cell carcinoma melanoma thyroid hormones production and peripheral downstream signaling effects egfr tyrosine kinase inhibitor resistance malignant pleural mesothelioma alzheimers disease nrp1-triggered signaling pathways in pancreatic cancer sildenafil treatment erbb signaling pathway dna damage response (only atm dependent) toll-like receptor signaling pathway tissues, cell types and enzyme sources animal male reproductive gland reproductive system male reproductive system female reproductive system brain embryonic structure central nervous system female reproductive gland head organism form digestive gland embryo gland gonad testis nervous system endocrine gland whole body viscus pronephros urogenital system internal male genital organ intracellular cytoplasm cellular anatomical entity age temporal measurement cognition cardiovascular measurement anthropometric measurement leukocyte count heart function measurement mental process body weights and measures electrocardiography body height body mass index neuroimaging measurement c-reactive protein measurement brain measurement hematological measurement complete blood cell count apolipoprotein a 1 measurement igf-1 measurement age at menarche hormone measurement lipoprotein measurement protein measurement self reported educational attainment rr interval inflammatory biomarker measurement mathematical ability platelet measurement nervous system measurement monocyte count lipid or lipoprotein measurement cancer biomarker measurement cardiovascular disease biomarker measurement smoking behaviour measurement white matter microstructure measurement smoking status measurement infectious disease biomarker brain volume measurement platelet component distribution width susceptibility to cold sores measurement susceptibility to infectious disease measurement risk-taking behaviour educational attainment ghrelin measurement abnormality of the kidney abnormality of the urinary system phenotypic abnormality abnormality of the genitourinary system abnormality of head or neck abnormality of the mouth narrow mouth abnormal oral cavity morphology abnormality of the head hydrocephalus abnormality of skull size macrocephaly cranial asymmetry abnormality of the face abnormality of the forehead abnormality of the orbital region hypertelorism high forehead abnormality of the nose abnormal nasal bridge morphology abnormality of the eye abnormal eyelid morphology abnormality of eye movement abnormality of vision visual impairment telecanthus abnormality of the optic nerve ophthalmoparesis optic atrophy abnormality of the nervous system abnormality of the skeletal system abnormal skull morphology abnormality of the skin cutis marmorata hyperextensible skin abnormal fundus morphology visual field defect abnormality of the hand hand polydactyly postaxial hand polydactyly abnormality of finger intellectual disability seizure hemiparesis abnormal corpus callosum morphology pachygyria abnormal nervous system electrophysiology myoclonus lissencephaly megalencephaly abnormality of the integument abnormality of the cardiovascular system abnormal heart morphology ventricular septal defect mitral regurgitation abnormal cardiac septum morphology abnormal cardiac ventricle morphology morphological central nervous system abnormality abnormal cerebral morphology hypoplasia of the corpus callosum abnormal cerebral ventricle morphology ventriculomegaly polymicrogyria status epilepticus gliosis abnormality of neuronal migration gray matter heterotopia eeg abnormality eeg with polyspike wave complexes upper motor neuron dysfunction abnormal cerebral white matter morphology abnormal cortical gyration abnormal cerebral cortex morphology cortical dysplasia abnormality of the vasculature abnormal calvaria morphology abnormality of limb bone morphology abnormality of the upper limb abnormal cerebrospinal fluid morphology aplasia/hypoplasia involving the central nervous system abnormality of the musculature abnormal 5th finger morphology duplication of hand bones functional motor deficit involuntary movements abnormal posterior eye segment morphology hemiplegia/hemiparesis abnormal nasal morphology depressed nasal bridge abnormal finger phalanx morphology abnormal hand morphology cranial nerve paralysis hemimegalencephaly focal-onset seizure aplasia/hypoplasia of the cerebrum aplasia/hypoplasia of the corpus callosum abnormally lax or hyperextensible skin abnormal axial skeleton morphology duplication of bones involving the upper extremities duplication of phalanx of hand abnormal ventricular septum morphology polydactyly weakness due to upper motor neuron dysfunction abnormal elasticity of skin atonic seizure eeg with spike-wave complexes eeg with burst suppression intellectual disability, severe abnormality of the upper urinary tract abnormal cerebral subcortex morphology abnormal cardiovascular system physiology epileptic spasm abnormality of skin morphology focal motor seizure focal tonic seizure interictal epileptiform activity eeg with focal epileptiform discharges eeg with focal spikes eeg with focal sharp slow waves eeg with generalized epileptiform discharges hemihypsarrhythmia vascular skin abnormality abnormal digit morphology abnormality of mouth size generalized abnormality of skin abnormal central motor function abnormality of higher mental function abnormal muscle physiology abnormal skeletal morphology abnormal appendicular skeleton morphology abnormal renal morphology oculomotor nerve palsy abnormal eye morphology abnormal eye physiology hemianopia abnormality of brain morphology abnormal nervous system physiology abnormal nervous system morphology abnormal neuron morphology neurodevelopmental delay neurodevelopmental abnormality abnormal optic disc morphology motor seizure obsolete psychomotor retardation interictal eeg abnormality abnormality of central nervous system electrophysiology abnormal ocular adnexa morphology abnormality of cardiovascular system morphology hyperintensity of cerebral white matter on mri abnormal mitral valve physiology abnormal atrioventricular valve physiology abnormal heart valve physiology abnormal oral morphology abnormal cranial nerve physiology abnormality of the ocular adnexa focal cortical dysplasia tonic seizure abnormality of the musculoskeletal system thin corpus callosum atrioventricular valve regurgitation abnormality of limbs abnormality of limb bone increased head circumference abnormality of movement postaxial polydactyly abnormal localization of kidney cognitive impairment abnormal forebrain morphology abnormal glial cell morphology abnormality of globe location acetylation alternative splicing atp-binding glycoprotein kinase membrane nucleus nucleotide-binding phosphoprotein serine/threonine-protein kinase transferase ubl conjugation cytoplasm disulfide bond protein kinase domain agc-kinase, c-terminal pleckstrin homology domain serine/threonine-protein kinase, active site protein kinase-like domain superfamily ph-like domain superfamily protein kinase, atp binding site protein kinase, c-terminal protein kinase b gamma, catalytic domain protein kinase b, pleckstrin homology domain extension to ser/thr-type protein kinases serine/threonine protein kinases, catalytic domain pleckstrin homology domain. reproduction regulation of cyclin-dependent protein serine/threonine kinase activity mapk cascade response to reactive oxygen species cell morphogenesis response to acid chemical ossification regulation of cell growth eye development in utero embryonic development placenta development embryonic placenta development regulation of protein phosphorylation positive regulation of protein phosphorylation hair follicle development morphogenesis of an epithelium developmental process involved in reproduction system process regulation of dna replication regulation of dna repair regulation of transcription, dna-templated regulation of transcription by rna polymerase ii protein phosphorylation phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process transport endocytosis receptor-mediated endocytosis response to stress response to oxidative stress cell communication cell adhesion signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway activation of transmembrane receptor protein tyrosine kinase activity epidermal growth factor receptor signaling pathway activation of phospholipase c activity multicellular organism development regulation of mitotic cell cycle nervous system development central nervous system development brain development sensory organ development salivary gland development salivary gland morphogenesis behavior learning or memory protein localization metabolic process cell population proliferation positive regulation of cell population proliferation epidermis development response to radiation response to uv response to light stimulus response to abiotic stimulus anatomical structure morphogenesis response to endogenous stimulus embryo development embryo development ending in birth or egg hatching animal organ morphogenesis tissue development regulation of biosynthetic process positive regulation of biosynthetic process negative regulation of metabolic process positive regulation of metabolic process regulation of catabolic process negative regulation of catabolic process regulation of signal transduction positive regulation of signal transduction negative regulation of signal transduction cellular process response to organic substance response to inorganic substance response to metal ion response to organonitrogen compound regulation of gene expression regulation of phospholipase activity positive regulation of phospholipase activity regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process positive regulation of phosphorus metabolic process regulation of cell cycle process positive regulation of macromolecule metabolic process negative regulation of macromolecule metabolic process positive regulation of gene expression regulation of cell communication positive regulation of cell communication negative regulation of cell communication regulation of nitric oxide mediated signal transduction positive regulation of nitric oxide mediated signal transduction positive regulation of phospholipase c activity regulation of cell death regulation of phosphatidylinositol 3-kinase signaling response to organic cyclic compound viral process cellular component organization vesicle-mediated transport phosphorylation cell migration peptidyl-tyrosine phosphorylation peptidyl-amino acid modification peptidyl-tyrosine modification viral life cycle regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process protein metabolic process telencephalon development pallium development cerebral cortex cell migration forebrain cell migration cerebral cortex development telencephalon cell migration molting cycle process hair cycle process reproductive process cellular component assembly gland morphogenesis regulation of signaling signaling positive regulation of signaling negative regulation of signaling regulation of wnt signaling pathway cell differentiation positive regulation of wnt signaling pathway positive regulation of cell growth regulation of cell migration positive regulation of cell migration forebrain development regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process regulation of protein modification process positive regulation of protein modification process activation of protein kinase activity response to estradiol multicellular organismal process developmental process regulation of monooxygenase activity regulation of stress-activated mapk cascade regulation of localization regulation of protein localization macromolecule localization regulation of peptidyl-serine phosphorylation positive regulation of peptidyl-serine phosphorylation cellular response to stress positive regulation of kinase activity response to lipid cellular response to oxidative stress cellular response to reactive oxygen species tube morphogenesis exocrine system development tube development intracellular signal transduction protein modification process peptidyl-tyrosine autophosphorylation erbb signaling pathway erbb2 signaling pathway erbb2-egfr signaling pathway regulation of growth regulation of locomotion positive regulation of locomotion regulation of epidermal growth factor receptor signaling pathway negative regulation of epidermal growth factor receptor signaling pathway regulation of cell population proliferation regulation of protein catabolic process negative regulation of protein catabolic process response to chemical molting cycle regulation of phosphorylation positive regulation of phosphorylation hair cycle regulation of apoptotic process chordate embryonic development camera-type eye development negative regulation of apoptotic process regulation of programmed cell death negative regulation of programmed cell death positive regulation of catalytic activity macromolecule metabolic process response to amino acid regulation of map kinase activity positive regulation of map kinase activity regulation of mapk cascade positive regulation of mapk cascade macromolecule modification regulation of kinase activity skin development protein-containing complex organization movement in host cellular component biogenesis positive regulation of molecular function cellular metabolic process primary metabolic process biological process involved in symbiotic interaction entry into host biological process involved in interspecies interaction between organisms establishment of protein localization regulation of cell differentiation negative regulation of cell differentiation positive regulation of cyclin-dependent protein serine/threonine kinase activity positive regulation of dna repair positive regulation of dna replication positive regulation of cell cycle regulation of protein kinase activity positive regulation of protein kinase activity positive regulation of transcription, dna-templated positive regulation of growth positive regulation of mitotic cell cycle positive regulation of nucleobase-containing compound metabolic process positive regulation of phosphate metabolic process positive regulation of transcription by rna polymerase ii regulation of jnk cascade response to cadmium ion viral entry into host cell protein autophosphorylation regulation of fibroblast proliferation positive regulation of fibroblast proliferation animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process digestive tract morphogenesis digestive tract development embryonic organ development regulation of response to stimulus positive regulation of response to stimulus negative regulation of response to stimulus reproductive structure development tissue morphogenesis system development gland development anatomical structure development cellular developmental process cell motility sensory system development epithelial cell proliferation regulation of epithelial cell proliferation positive regulation of epithelial cell proliferation regulation of peptidyl-tyrosine phosphorylation positive regulation of peptidyl-tyrosine phosphorylation regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process nervous system process cognition response to stimulus regulation of nitric-oxide synthase activity regulation of dna metabolic process positive regulation of dna metabolic process negative regulation of developmental process regulation of cellular component organization regulation of nitrogen compound metabolic process negative regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process localization protein insertion into membrane establishment of localization regulation of multicellular organismal process negative regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process negative regulation of protein metabolic process regulation of rna metabolic process positive regulation of rna metabolic process regulation of hydrolase activity regulation of transferase activity regulation of oxidoreductase activity positive regulation of hydrolase activity positive regulation of transferase activity cellular localization localization within membrane biological process involved in interaction with host cellular response to stimulus regulation of cell cycle regulation of protein kinase b signaling positive regulation of protein kinase b signaling digestive system development regulation of post-transcriptional gene silencing positive regulation of post-transcriptional gene silencing regulation of lipase activity positive regulation of lipase activity regulation of macromolecule metabolic process head development regulation of cellular localization epithelium development negative regulation of cell death morphogenesis of an epithelial fold regulation of canonical wnt signaling pathway regulation of mirna-mediated gene silencing regulation of gene silencing by rna membrane organization eyelid development in camera-type eye regulation of protein tyrosine kinase activity positive regulation of protein tyrosine kinase activity reproductive system development cellular response to chemical stress protein-containing complex assembly biological regulation regulation of molecular function response to uv-a regulation of stress-activated protein kinase signaling cascade regulation of erk1 and erk2 cascade positive regulation of erk1 and erk2 cascade cellular macromolecule localization response to growth factor response to epidermal growth factor cellular response to chemical stimulus regulation of production of small rna involved in gene silencing by rna cellular response to acid chemical cellular response to amino acid stimulus cellular response to inorganic substance cellular response to metal ion cellular response to cadmium ion cellular response to organic substance cellular response to growth factor stimulus cellular response to epidermal growth factor stimulus cellular response to estradiol stimulus cellular response to lipid cellular response to organic cyclic compound cellular response to organonitrogen compound cellular response to endogenous stimulus organic substance metabolic process cellular component organization or biogenesis regulation of protein serine/threonine kinase activity positive regulation of protein serine/threonine kinase activity protein localization to membrane regulation of primary metabolic process regulation of response to stress regulation of cellular response to stress positive regulation of cell cycle process establishment of protein localization to membrane positive regulation of canonical wnt signaling pathway cell-cell adhesion skin epidermis development visual system development regulation of protein kinase c activity positive regulation of protein kinase c activity positive regulation of g1/s transition of mitotic cell cycle regulation of phospholipase c activity regulation of post-transcriptional gene silencing by rna positive regulation of post-transcriptional gene silencing by rna regulation of erbb signaling pathway negative regulation of erbb signaling pathway regulation of nik/nf-kappab signaling positive regulation of nik/nf-kappab signaling organonitrogen compound metabolic process response to nitrogen compound cellular response to nitrogen compound response to oxygen-containing compound cellular response to oxygen-containing compound regulation of cell cycle phase transition positive regulation of cell cycle phase transition regulation of mitotic cell cycle phase transition positive regulation of mitotic cell cycle phase transition regulation of intracellular signal transduction positive regulation of intracellular signal transduction positive regulation of rna biosynthetic process regulation of cell cycle g1/s phase transition positive regulation of cell cycle g1/s phase transition regulation of protein localization to plasma membrane positive regulation of protein localization to plasma membrane regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription regulation of mirna maturation positive regulation of mirna maturation positive regulation of protein localization regulation of cyclin-dependent protein kinase activity positive regulation of cyclin-dependent protein kinase activity regulation of protein localization to cell periphery positive regulation of protein localization to cell periphery regulation of cardiocyte differentiation negative regulation of cardiocyte differentiation regulation of protein localization to membrane positive regulation of protein localization to membrane regulation of g1/s transition of mitotic cell cycle regulation of cell motility positive regulation of cell motility positive regulation of mirna-mediated gene silencing regulation of response to dna damage stimulus positive regulation of response to dna damage stimulus regulation of rna biosynthetic process nucleotide binding virus receptor activity nucleic acid binding dna binding chromatin binding double-stranded dna binding actin binding catalytic activity protein kinase activity protein serine/threonine kinase activity map kinase kinase kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity transmembrane signaling receptor activity epidermal growth factor receptor activity binding protein binding atp binding enzyme activator activity cytoskeletal protein binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding transmembrane receptor protein kinase activity kinase regulator activity kinase activator activity growth factor binding protein kinase regulator activity enzyme binding kinase binding phosphatase binding protein phosphatase binding enzyme regulator activity protein kinase activator activity protein tyrosine kinase activator activity transmembrane receptor protein tyrosine kinase activator activity signaling receptor regulator activity signaling receptor activator activity adenyl nucleotide binding ubiquitin protein ligase binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding signaling receptor activity hormone binding identical protein binding ion binding anion binding ubiquitin-like protein ligase binding protein-containing complex binding cadherin binding epidermal growth factor binding cell adhesion molecule binding actin filament binding atpase binding molecular transducer activity organic cyclic compound binding carbohydrate derivative binding molecular function regulator activity catalytic activity, acting on a protein exogenous protein binding nucleoside phosphate binding heterocyclic compound binding golgi membrane ruffle extracellular region extracellular space intracellular anatomical structure nucleus nuclear envelope cytoplasm endosome early endosome late endosome multivesicular body endoplasmic reticulum endoplasmic reticulum membrane golgi apparatus plasma membrane integral component of plasma membrane focal adhesion basal plasma membrane cell surface endosome membrane endomembrane system vesicle membrane membrane integral component of membrane basolateral plasma membrane cell junction cell-substrate junction coated vesicle clathrin-coated vesicle endocytic vesicle cytoplasmic vesicle membrane coated vesicle membrane clathrin-coated vesicle membrane endocytic vesicle membrane clathrin-coated endocytic vesicle membrane organelle membrane intrinsic component of membrane intrinsic component of plasma membrane cell leading edge cell projection membrane leading edge membrane cytoplasmic vesicle early endosome membrane nuclear membrane organelle envelope membrane-enclosed lumen envelope vesicle vesicle lumen organelle subcompartment ruffle membrane protein-containing complex nuclear outer membrane-endoplasmic reticulum membrane network cell projection organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen receptor complex spanning component of plasma membrane membrane raft basal part of cell clathrin-coated endocytic vesicle perinuclear region of cytoplasm intracellular organelle lumen anchoring junction shc-egfr complex cell periphery spanning component of membrane multivesicular body, internal vesicle multivesicular body, internal vesicle lumen intracellular vesicle bounding membrane of organelle plasma membrane region membrane protein complex plasma membrane protein complex endoplasmic reticulum subcompartment membrane microdomain cellular anatomical entity plasma membrane bounded cell projection mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and tyrosine-protein kinase, catalytic domain mixed, incl. constitutive signaling by aberrant pi3k in cancer, and fceri mediated ca+2 mobilization constitutive signaling by aberrant pi3k in cancer, and vegf ligand-receptor interactions constitutive signaling by aberrant pi3k in cancer, and vegf ligand-receptor interactions erbb2 activates ptk6 signaling erbb2-egfr signaling pathway egfr tyrosine kinase inhibitor resistance endocrine resistance mapk signaling pathway erbb signaling pathway ras signaling pathway rap1 signaling pathway calcium signaling pathway hif-1 signaling pathway foxo signaling pathway phospholipase d signaling pathway endocytosis pi3k-akt signaling pathway focal adhesion adherens junction gap junction jak-stat signaling pathway regulation of actin cytoskeleton gnrh signaling pathway estrogen signaling pathway oxytocin signaling pathway relaxin signaling pathway parathyroid hormone synthesis, secretion and action cushing syndrome epithelial cell signaling in helicobacter pylori infection shigellosis hepatitis c human cytomegalovirus infection human papillomavirus infection pathways in cancer proteoglycans in cancer micrornas in cancer colorectal cancer pancreatic cancer endometrial cancer glioma prostate cancer melanoma bladder cancer non-small cell lung cancer breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer choline metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer signaling by erbb2 signaling by erbb2 in cancer constitutive signaling by ligand-responsive egfr cancer variants signaling by erbb4 shc1 events in erbb2 signaling plcg1 events in erbb2 signaling pip3 activates akt signaling developmental biology signaling by notch signal transduction disease signaling by egfr in cancer signaling by egfr grb2 events in egfr signaling gab1 signalosome shc1 events in egfr signaling egfr downregulation grb2 events in erbb2 signaling pi3k events in erbb2 signaling negative regulation of the pi3k/akt network membrane trafficking generic transcription pathway egfr interacts with phospholipase c-gamma egfr transactivation by gastrin pi3k/akt signaling in cancer constitutive signaling by aberrant pi3k in cancer signaling by gpcr l1cam interactions gpcr downstream signalling g alpha (q) signalling events axon guidance signal transduction by l1 constitutive signaling by egfrviii signaling by egfrviii in cancer signaling by ligand-responsive egfr variants in cancer signaling by overexpressed wild-type egfr in cancer inhibition of signaling by overexpressed egfr vesicle-mediated transport diseases of signal transduction by growth factor receptors and second messengers infectious disease raf/map kinase cascade mapk family signaling cascades mapk1/mapk3 signaling erbb2 regulates cell motility pi5p, pp2a and ier3 regulate pi3k/akt signaling rna polymerase ii transcription gene expression (transcription) gastrin-creb signalling pathway via pkc and mapk erbb2 activates ptk6 signaling signaling by ptk6 cargo recognition for clathrin-mediated endocytosis clathrin-mediated endocytosis ptk6 promotes hif1a stabilization downregulation of erbb2 signaling transcriptional regulation by the ap-2 (tfap2) family of transcription factors tfap2 (ap-2) family regulates transcription of growth factors and their receptors esr-mediated signaling intracellular signaling by second messengers signaling by non-receptor tyrosine kinases signaling by nuclear receptors signaling by receptor tyrosine kinases extra-nuclear estrogen signaling signaling by notch3 notch3 activation and transmission of signal to the nucleus hcmv infection hcmv early events estrogen-dependent nuclear events downstream of esr-membrane signaling signaling by erbb2 kd mutants signaling by erbb2 ecd mutants signaling by erbb2 tmd/jmd mutants nervous system development androgen receptor signaling pathway glioblastoma signaling pathways age/rage pathway gastric cancer network 2 spinal cord injury aryl hydrocarbon receptor pathway nanoparticle-mediated activation of receptor signaling mammary gland development pathway - pregnancy and lactation (stage 3 of 4) bladder cancer hair follicle development: cytodifferentiation - part 3 of 3 tca cycle nutrient use and invasiveness of ovarian cancer extracellular vesicle-mediated signaling in recipient cells aryl hydrocarbon receptor pathway nuclear receptors meta-pathway focal adhesion rac1/pak1/p38/mmp2 pathway photodynamic therapy-induced ap-1 survival signaling physico-chemical features and toxicity-associated pathways mapk signaling pathway erk pathway in huntingtons disease bmp signaling in eyelid development embryonic stem cell pluripotency pathways focal adhesion: pi3k-akt-mtor-signaling pathway clear cell renal cell carcinoma pathways endometrial cancer pi3k-akt signaling pathway ebola virus infection in host ras signaling non-small cell lung cancer breast cancer pathway pancreatic adenocarcinoma pathway extracellular vesicles in the crosstalk of cardiac cells egf/egfr signaling pathway relationship between inflammation, cox-2 and egfr regulatory circuits of the stat3 signaling pathway hippo signaling regulation pathways hippo-merlin signaling dysregulation 22q11.2 copy number variation syndrome gastrin signaling pathway head and neck squamous cell carcinoma egfr tyrosine kinase inhibitor resistance malignant pleural mesothelioma regulation of actin cytoskeleton nrp1-triggered signaling pathways in pancreatic cancer 2q37 copy number variation syndrome trop2 regulatory signaling ckap4 signaling pathway map erbb signaling pathway lower respiratory tract disease exanthem respiratory system cancer organ system cancer cell type cancer pulmonary adenocarcinoma in situ pre-malignant neoplasm brain glioma thoracic disease pharynx cancer colorectal carcinoma hepatobiliary system cancer gastroesophageal cancer lung non-squamous non-small cell carcinoma intestinal cancer stomach cancer head and neck cancer paronychia brain cancer lung cancer disease of cellular proliferation head and neck carcinoma respiratory system disease integumentary system disease breast cancer cancer endocrine gland cancer squamous cell carcinoma pancreatic cancer tumor of exocrine pancreas colon cancer pancreas disease endocrine system disease adenocarcinoma carcinoma glioblastoma multiforme astrocytoma malignant glioma nervous system cancer hepatobiliary disease gastrointestinal system cancer central nervous system disease breast carcinoma breast disease central nervous system cancer skin disease lung carcinoma lung squamous cell carcinoma lung non-small cell carcinoma lung adenocarcinoma disease pancreatic adenocarcinoma nail disease bile duct disease large cell carcinoma bile duct cancer biliary tract cancer adenosquamous carcinoma bile duct adenocarcinoma bile duct carcinoma pancreatic carcinoma bronchiolo-alveolar adenocarcinoma adenocarcinoma in situ cholangiocarcinoma thoracic cancer intestinal disease colonic disease head and neck squamous cell carcinoma large intestine cancer disease of anatomical entity stomach disease gastrointestinal system disease lung disease nervous system disease in situ carcinoma lung carcinoma in situ colorectal cancer brain disease biliary tract disease tissues, cell types and enzyme sources intestinal cell line a-431 cell animal alimentary canal reproductive system female reproductive system mcf-7 cell astrocytoma cell line adenocarcinoma cell line embryonic structure cervical carcinoma cell colonic cell line brain cell line head organism form carcinoma cell line digestive gland lung cell line breast cancer cell line fetus gland lung cancer cell brain cancer cell line liver lung cancer cell line colonic cancer cell line mda-mb-231 cell breast cell line pharynx placenta mouth epithelial cell line endocrine gland whole body viscus rectal cell line glioblastoma cell line rectal cancer cell line mda-mb-468 cell colorectal cell line colorectal cancer cell line hypopharynx lung adenocarcinoma cell line breast adenocarcinoma cell line bt-474 cell u-87mg cell non-small cell lung cancer cell bronchogenic carcinoma cell sk-br-3 cell non-small cell lung cancer cell line urogenital system internal female genital organ mammary gland cell line non-small cell lung adenocarcinoma cell line hcc-827 cell mammary gland tumor cell line nci-h1975 cell pc-9 cell head and neck cancer cell difi cell head and neck squamous cell carcinoma cell ruffle extracellular region extracellular space intracellular nucleus cytoplasm endosome early endosome late endosome multivesicular body plasma membrane integral component of plasma membrane focal adhesion basal plasma membrane cell surface endosome membrane endomembrane system vesicle membrane membrane integral component of membrane basolateral plasma membrane cell junction cell-substrate junction coated vesicle clathrin-coated vesicle endocytic vesicle cytoplasmic vesicle membrane coated vesicle membrane clathrin-coated vesicle membrane endocytic vesicle membrane clathrin-coated endocytic vesicle membrane organelle membrane intrinsic component of membrane intrinsic component of plasma membrane cell leading edge cell projection membrane leading edge membrane cytoplasmic vesicle early endosome membrane membrane-enclosed lumen vesicle vesicle lumen ruffle membrane protein-containing complex tor complex cell projection organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen receptor complex spanning component of plasma membrane membrane raft basal part of cell clathrin-coated endocytic vesicle intracellular organelle lumen anchoring junction shc-egfr complex cell periphery spanning component of membrane multivesicular body, internal vesicle multivesicular body, internal vesicle lumen intracellular vesicle bounding membrane of organelle plasma membrane region membrane protein complex plasma membrane protein complex membrane microdomain cellular anatomical entity plasma membrane bounded cell projection age astrocytoma cardiovascular disease central nervous system cancer disease glioblastoma multiforme neoplasm nervous system disease temporal measurement vascular disease erythrocyte indices leukocyte count platelet count brain measurement hematological measurement hemoglobin measurement mean corpuscular volume mean corpuscular hemoglobin concentration complete blood cell count lymphocyte count protein measurement age at onset platelet measurement erythrocyte measurement monocyte count response to alcohol glioma white matter microstructure measurement infectious disease biomarker nervous system cancer platelet component distribution width platelet crit nicotine dependence symptom count central nervous system disease hemorrhoid central nervous system neoplasm phenotypic abnormality abnormality of head or neck abnormality of the mouth abnormal lip morphology abnormal oral cavity morphology abnormality of the head abnormality of the face abnormality of the orbital region abnormality of the outer ear abnormality of the auditory canal abnormality of the eye abnormal cornea morphology astigmatism abnormal eyelid morphology blepharitis abnormal eyebrow morphology abnormality of refraction abnormality of the ear abnormality of the skin abnormality of the integument recurrent skin infections abnormal hair morphology abnormality of the nail abnormality of the cardiovascular system abnormal heart morphology abnormal left ventricle morphology left ventricular hypertrophy abnormal cardiac ventricle morphology ventricular hypertrophy onychogryposis abnormal scalp morphology diarrhea abnormality of the respiratory system abnormal lung morphology slow-growing hair abnormality of the vasculature neoplasm abnormality of the immune system recurrent bacterial infections recurrent infections psoriasiform dermatitis abnormal anterior eye segment morphology abnormality of the anus recurrent infection of the gastrointestinal tract recurrent bacterial skin infections abnormal tracheobronchial morphology alveolar cell carcinoma chronic monilial nail infection erythema abnormality of immune system physiology abnormality of the gastrointestinal tract abnormality of skin morphology abnormality of skin physiology inflammatory abnormality of the skin abnormal epidermal morphology perianal dermatitis abnormality of skin adnexa morphology horizontal eyebrow vascular skin abnormality generalized abnormality of skin abnormality of hair growth rate abdominal symptom neoplasm by anatomical site abnormal respiratory system morphology abnormal eye morphology abnormal eye physiology anal fissure abnormal inflammatory response increased inflammatory response morphological abnormality of the gastrointestinal tract functional abnormality of the gastrointestinal tract anorectal anomaly abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology bloody diarrhea lung adenocarcinoma non-small cell lung carcinoma abnormal ocular adnexa morphology abnormality of cardiovascular system morphology recurrent gastroenteritis abnormal ear morphology abnormal oral morphology abnormality of the ocular adnexa unusual infection abnormality of hair growth chapped lip scaling skin abnormality of the scalp hair slow-growing scalp hair neoplasm of the lung inflammatory abnormality of the eye neoplasm of the tracheobronchial system neoplasm of the respiratory system abnormality of the curvature of the cornea pustule otitis externa vein disorder pelvic varices cancer varicose disease high grade astrocytic tumor high grade malignant neoplasm neuroepithelial neoplasm nervous system neoplasm astrocytic tumor neoplastic disease or syndrome cancer or benign tumor malignant glioma alternative splicing atp-binding developmental protein endoplasmic reticulum glycoprotein golgi apparatus kinase lipoprotein membrane methylation nucleus nucleotide-binding palmitate phosphoprotein proto-oncogene receptor repeat signal transferase transmembrane tyrosine-protein kinase ubl conjugation host-virus interaction secreted endosome cell membrane disulfide bond isopeptide bond transmembrane helix host cell receptor for virus entry receptor l domain receptor l-domain protein kinase domain serine-threonine/tyrosine-protein kinase, catalytic domain furin-like cysteine-rich domain furin-like repeat tyrosine-protein kinase, active site growth factor receptor cysteine-rich domain superfamily protein kinase-like domain superfamily tyrosine protein kinase, egf/erb/xmrk receptor protein kinase, atp binding site tyrosine-protein kinase, catalytic domain growth factor receptor domain 4 receptor l-domain superfamily tyrosine kinase, catalytic domain furin-like repeats cell morphogenesis cell morphogenesis involved in differentiation regulation of cell growth cell activation regulation of protein phosphorylation positive regulation of protein phosphorylation immune system process immune system development leukocyte differentiation regulation of immune system process negative regulation of immune system process regulation of leukocyte activation negative regulation of leukocyte activation regulation of transcription, dna-templated regulation of transcription by rna polymerase i regulation of translation protein phosphorylation phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process chemotaxis response to stress cell communication negative regulation of cell adhesion signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway epidermal growth factor receptor signaling pathway ensheathment of neurons multicellular organism development nervous system development axonogenesis axon guidance central nervous system development peripheral nervous system development heart development neuromuscular junction development motor neuron axon guidance metabolic process cell population proliferation positive regulation of cell population proliferation negative regulation of cell population proliferation axon ensheathment response to external stimulus response to wounding anatomical structure morphogenesis response to endogenous stimulus regulation of biosynthetic process positive regulation of biosynthetic process positive regulation of metabolic process regulation of signal transduction positive regulation of signal transduction cellular process glial cell differentiation response to organic substance regulation of gene expression regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process positive regulation of phosphorus metabolic process positive regulation of macromolecule metabolic process post-transcriptional regulation of gene expression positive regulation of gene expression regulation of cell communication positive regulation of cell communication phosphatidylinositol 3-kinase signaling cellular component organization phosphorylation peptidyl-tyrosine phosphorylation peptidyl-amino acid modification peptidyl-tyrosine modification regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process protein metabolic process neurogenesis regulation of cell-cell adhesion negative regulation of cell-cell adhesion regulation of anatomical structure morphogenesis regulation of signaling signaling positive regulation of signaling cell projection organization hemopoiesis lymphocyte differentiation cell differentiation regulation of cell adhesion neuron differentiation t cell differentiation positive regulation of cell growth neuron projection development regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process regulation of protein modification process positive regulation of protein modification process regulation of intracellular transport positive regulation of intracellular transport multicellular organismal process developmental process regulation of localization regulation of protein localization regulation of microtubule-based process mononuclear cell proliferation regulation of mononuclear cell proliferation negative regulation of mononuclear cell proliferation cellular component morphogenesis cell part morphogenesis t cell differentiation in thymus immature t cell proliferation immature t cell proliferation in thymus regulation of t cell differentiation in thymus regulation of immature t cell proliferation regulation of immature t cell proliferation in thymus negative regulation of t cell differentiation in thymus negative regulation of immature t cell proliferation negative regulation of immature t cell proliferation in thymus regulation of intracellular protein transport positive regulation of kinase activity regulation of cellular amide metabolic process positive regulation of cellular amide metabolic process cell junction organization intracellular signal transduction protein modification process erbb signaling pathway erbb2 signaling pathway erbb3 signaling pathway erbb4 signaling pathway erbb2-erbb3 signaling pathway erbb2-egfr signaling pathway erbb2-erbb4 signaling pathway regulation of growth locomotion wound healing gliogenesis t cell proliferation t cell activation regulation of cell population proliferation regulation of t cell proliferation negative regulation of t cell proliferation response to chemical regulation of phosphorylation positive regulation of phosphorylation taxis myelination positive regulation of catalytic activity regulation of gtpase activity macromolecule metabolic process regulation of map kinase activity positive regulation of map kinase activity regulation of mapk cascade positive regulation of mapk cascade macromolecule modification positive regulation of gtpase activity regulation of kinase activity positive regulation of molecular function cellular metabolic process primary metabolic process leukocyte activation regulation of t cell differentiation negative regulation of t cell differentiation regulation of cell differentiation negative regulation of cell differentiation regulation of lymphocyte differentiation negative regulation of lymphocyte differentiation positive regulation of translation regulation of angiogenesis positive regulation of cell adhesion regulation of protein kinase activity positive regulation of protein kinase activity positive regulation of transcription, dna-templated positive regulation of growth positive regulation of nucleobase-containing compound metabolic process positive regulation of phosphate metabolic process positive regulation of transcription by rna polymerase i lymphocyte activation lymphocyte proliferation protein autophosphorylation phosphatidylinositol-mediated signaling inositol lipid-mediated signaling cell development animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process hematopoietic or lymphoid organ development regulation of response to stimulus positive regulation of response to stimulus neuron development cell morphogenesis involved in neuron differentiation generation of neurons oligodendrocyte differentiation system development neuron projection morphogenesis anatomical structure development cell projection morphogenesis cellular developmental process regulation of lymphocyte proliferation negative regulation of lymphocyte proliferation regulation of epithelial cell proliferation positive regulation of epithelial cell proliferation regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process synapse organization regulation of t cell activation regulation of cell activation negative regulation of cell activation negative regulation of t cell activation response to stimulus regulation of transport positive regulation of transport negative regulation of developmental process regulation of cellular component organization regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process positive regulation of protein transport regulation of protein transport regulation of multicellular organismal process negative regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process regulation of lymphocyte activation negative regulation of lymphocyte activation regulation of rna metabolic process positive regulation of rna metabolic process regulation of hydrolase activity regulation of transferase activity positive regulation of hydrolase activity positive regulation of transferase activity cellular response to stimulus regulation of macromolecule metabolic process regulation of cellular localization axon development biological regulation regulation of molecular function regulation of establishment of protein localization regulation of erk1 and erk2 cascade leukocyte proliferation regulation of leukocyte proliferation negative regulation of leukocyte proliferation response to growth factor response to epidermal growth factor cellular response to chemical stimulus cellular response to organic substance cellular response to growth factor stimulus cellular response to epidermal growth factor stimulus cellular response to endogenous stimulus organic substance metabolic process cellular component organization or biogenesis regulation of protein serine/threonine kinase activity positive regulation of protein serine/threonine kinase activity circulatory system development regulation of primary metabolic process regulation of protein targeting to membrane positive regulation of protein targeting to membrane positive regulation of intracellular protein transport neuron projection guidance plasma membrane bounded cell projection organization plasma membrane bounded cell projection morphogenesis regulation of vasculature development organonitrogen compound metabolic process regulation of leukocyte differentiation negative regulation of leukocyte differentiation regulation of intracellular signal transduction positive regulation of intracellular signal transduction positive regulation of rna biosynthetic process regulation of leukocyte cell-cell adhesion negative regulation of leukocyte cell-cell adhesion mononuclear cell differentiation regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription regulation of protein targeting regulation of hemopoiesis negative regulation of hemopoiesis positive regulation of protein localization positive regulation of establishment of protein localization regulation of protein localization to membrane positive regulation of protein localization to membrane regulation of multicellular organismal development regulation of cellular macromolecule biosynthetic process regulation of rna biosynthetic process nucleotide binding rna polymerase i core binding catalytic activity protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity transmembrane signaling receptor activity signaling receptor binding binding protein binding atp binding protein c-terminus binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding transmembrane receptor protein kinase activity enzyme binding phosphatase binding protein phosphatase binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding signaling receptor activity identical protein binding erbb-3 class receptor binding ion binding anion binding rna polymerase core enzyme binding protein heterodimerization activity protein dimerization activity molecular transducer activity rna polymerase binding organic cyclic compound binding carbohydrate derivative binding catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding intracellular anatomical structure nucleus cytoplasm endosome early endosome cytosol plasma membrane integral component of plasma membrane basal plasma membrane endosome membrane endomembrane system vesicle membrane membrane integral component of membrane basolateral plasma membrane apical plasma membrane cytoplasmic vesicle membrane organelle membrane intrinsic component of membrane intrinsic component of plasma membrane cytoplasmic vesicle vesicle protein-containing complex erbb3:erbb2 complex myelin sheath organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle receptor complex spanning component of plasma membrane apical part of cell basal part of cell perinuclear region of cytoplasm cell periphery spanning component of membrane intracellular vesicle bounding membrane of organelle plasma membrane region membrane protein complex plasma membrane protein complex plasma membrane signaling receptor complex cellular anatomical entity mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and tyrosine-protein kinase, catalytic domain mixed, incl. constitutive signaling by aberrant pi3k in cancer, and fceri mediated ca+2 mobilization constitutive signaling by aberrant pi3k in cancer, and vegf ligand-receptor interactions constitutive signaling by aberrant pi3k in cancer, and vegf ligand-receptor interactions erbb2 activates ptk6 signaling erbb2-egfr signaling pathway egfr tyrosine kinase inhibitor resistance endocrine resistance platinum drug resistance mapk signaling pathway erbb signaling pathway calcium signaling pathway hif-1 signaling pathway pi3k-akt signaling pathway focal adhesion adherens junction tight junction pathways in cancer proteoglycans in cancer micrornas in cancer pancreatic cancer endometrial cancer prostate cancer bladder cancer non-small cell lung cancer breast cancer gastric cancer central carbon metabolism in cancer signaling by erbb2 signaling by erbb2 in cancer shc1 events in erbb2 signaling plcg1 events in erbb2 signaling pip3 activates akt signaling developmental biology grb7 events in erbb2 signaling downregulation of erbb2:erbb3 signaling signal transduction disease grb2 events in erbb2 signaling pi3k events in erbb2 signaling negative regulation of the pi3k/akt network generic transcription pathway pi3k/akt signaling in cancer constitutive signaling by aberrant pi3k in cancer semaphorin interactions sema4d in semaphorin signaling sema4d induced cell migration and growth-cone collapse axon guidance diseases of signal transduction by growth factor receptors and second messengers raf/map kinase cascade mapk family signaling cascades mapk1/mapk3 signaling erbb2 regulates cell motility pi5p, pp2a and ier3 regulate pi3k/akt signaling rna polymerase ii transcription gene expression (transcription) erbb2 activates ptk6 signaling signaling by ptk6 downregulation of erbb2 signaling transcriptional regulation by the ap-2 (tfap2) family of transcription factors tfap2 (ap-2) family regulates transcription of growth factors and their receptors intracellular signaling by second messengers signaling by non-receptor tyrosine kinases signaling by receptor tyrosine kinases constitutive signaling by overexpressed erbb2 drug-mediated inhibition of erbb2 signaling signaling by erbb2 kd mutants drug resistance in erbb2 kd mutants resistance of erbb2 kd mutants to trastuzumab resistance of erbb2 kd mutants to sapitinib resistance of erbb2 kd mutants to tesevatinib resistance of erbb2 kd mutants to neratinib resistance of erbb2 kd mutants to osimertinib resistance of erbb2 kd mutants to afatinib resistance of erbb2 kd mutants to aee788 resistance of erbb2 kd mutants to lapatinib signaling by erbb2 ecd mutants signaling by erbb2 tmd/jmd mutants drug resistance in erbb2 tmd/jmd mutants nervous system development leptin signaling pathway prolactin signaling pathway glioblastoma signaling pathways mammary gland development pathway - puberty (stage 2 of 4) mammary gland development pathway - pregnancy and lactation (stage 3 of 4) bladder cancer extracellular vesicle-mediated signaling in recipient cells focal adhesion rac1/pak1/p38/mmp2 pathway pathways affected in adenoid cystic carcinoma physico-chemical features and toxicity-associated pathways endometrial cancer non-small cell lung cancer breast cancer pathway pancreatic adenocarcinoma pathway egf/egfr signaling pathway head and neck squamous cell carcinoma egfr tyrosine kinase inhibitor resistance 2q11.2 copy number variation syndrome 17q12 copy number variation syndrome erbb signaling pathway dna damage response (only atm dependent) lower respiratory tract disease respiratory system cancer female breast cancer organ system cancer cell type cancer breast lobular carcinoma pre-malignant neoplasm benign neoplasm ductal carcinoma in situ estrogen-receptor positive breast cancer breast benign neoplasm cell type benign neoplasm organ system benign neoplasm thoracic benign neoplasm thoracic disease integumentary system cancer gastroesophageal cancer gastroesophageal adenocarcinoma intestinal cancer stomach cancer hypertrophy of breast urinary bladder cancer peripheral nervous system neoplasm female reproductive organ cancer lung cancer sweat gland disease disease of cellular proliferation reproductive system disease respiratory system disease integumentary system disease breast cancer male breast cancer breast fibroadenoma cancer intraductal papilloma endocrine gland cancer pancreatic cancer urinary system disease reproductive organ cancer sweat gland cancer female reproductive system disease pancreas disease papilloma autonomic nervous system neoplasm endocrine system disease adenocarcinoma breast ductal carcinoma invasive ductal carcinoma lobular neoplasia intraductal breast benign neoplasm carcinoma nervous system cancer hepatobiliary disease gastrointestinal system cancer invasive lobular carcinoma breast adenocarcinoma breast carcinoma breast disease bladder disease skin disease gastric adenocarcinoma lung carcinoma lung non-small cell carcinoma urinary system cancer disease liver disease skin cancer breast metaplastic carcinoma apocrine adenocarcinoma apocrine sweat gland cancer gastroesophageal junction adenocarcinoma thoracic cancer intestinal disease stomach carcinoma comedo carcinoma large intestine cancer cribriform carcinoma peripheral nervous system disease microglandular adenosis inflammatory breast carcinoma adenoma bilateral breast cancer disease of anatomical entity stomach disease neuroblastoma gastrointestinal system disease lung disease nervous system disease in situ carcinoma breast carcinoma in situ colorectal cancer tissues, cell types and enzyme sources animal alimentary canal reproductive system female reproductive system mcf-7 cell brain breast breast cancer cell adenocarcinoma cell line carcinoma cell cervical carcinoma cell central nervous system female reproductive gland head carcinoma cell line digestive gland breast cancer cell line epithelial cell epithelioma cell epithelium erythroleukemia cell excretory gland gastrointestinal tract gland blood cancer cell bone marrow cancer cell adenocarcinoma cell hypocotyl integument intestine leaf plant form liver exocrine gland gastric cancer cell line ovary cancer cell line mda-mb-231 cell breast cell line mammary gland nipple needle skov-3 cell ovary cell line gastric cell line mouth epithelial cell line salivary gland breast epithelial cell seed seedling plant embryo shoot t-47d cell leukemia cell thorax breast epithelium mammary epithelium whole plant bt-20 cell plant nervous system endocrine gland whole body viscus trunk plumule mda-mb-361 cell mda-mb-468 cell ovary adenocarcinoma cell line mda-mb-453 cell breast adenocarcinoma cell line bt-474 cell mcf-10a cell hmepc cell myoepithelium myoepithelial cell sk-br-3 cell bt-549 cell mammary epithelial cell line breast invasive ductal carcinoma cell mammary duct nci-n87 cell urogenital system zr-75-1 cell mammary gland cell line hs-578t cell mda-mb-435s cell mammary gland tumor cell line cancer stem cell mammary epithelial cell 4t1 cell jimt-1 cell gastroesophageal junction hbl-100 cell mammary ductal carcinoma cell zr-75-30 cell salivary duct hcc-1954 cell mammary luminal epithelial cell sum-149pt cell sum-190pt cell sum cell breast cancer stem cell intracellular nucleus cytoplasm endosome cytosol nascent polypeptide-associated complex plasma membrane integral component of plasma membrane basal plasma membrane endosome membrane endomembrane system vesicle membrane membrane integral component of membrane basolateral plasma membrane cytoplasmic vesicle membrane organelle membrane intrinsic component of membrane intrinsic component of plasma membrane cytoplasmic vesicle vesicle protein-containing complex erbb3:erbb2 complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle receptor complex spanning component of plasma membrane basal part of cell perinuclear region of cytoplasm cell periphery spanning component of membrane intracellular vesicle bounding membrane of organelle plasma membrane region membrane protein complex plasma membrane protein complex plasma membrane signaling receptor complex cellular anatomical entity sign or symptom pain cognition mental process renal system measurement mathematical ability glomerular filtration rate abnormality of body height abnormality of the urinary system phenotypic abnormality abnormality of the genitourinary system hearing abnormality hearing impairment sensorineural hearing impairment abnormality of the ear abnormality of the nervous system abnormality of the endocrine system abnormality of the thyroid gland abnormality of the skeletal system abnormality of the hand abnormality of finger abnormal thumb morphology adducted thumb intellectual disability growth abnormality failure to thrive growth delay failure to thrive in infancy weight loss abnormality of metabolism/homeostasis morphological central nervous system abnormality diarrhea nausea and vomiting constipation abdominal pain abnormality of the respiratory system abnormal lung morphology abnormal intestine morphology aganglionic megacolon abnormality of the autonomic nervous system abnormal stomach morphology neoplasm abnormality of the immune system abnormality of limb bone morphology abnormality of the upper limb ependymoma abnormality of urine homeostasis short stature abnormality of body weight decreased body weight abnormality of enteric ganglion morphology neoplasm of the nervous system gastrointestinal obstruction intestinal obstruction intestinal polyp abnormal tracheobronchial morphology alveolar cell carcinoma neoplasm of the stomach neoplasm of the gastrointestinal tract astrocytoma glioma abnormality of immune system physiology abnormality of the gastrointestinal tract abnormality of the urinary system physiology abnormal digit morphology functional abnormality of the inner ear abnormality of higher mental function abdominal symptom abnormal thyroid morphology neoplasm by histology neoplasm by anatomical site abnormal skeletal morphology abnormal appendicular skeleton morphology stomach cancer glioblastoma multiforme abnormal respiratory system morphology abnormal autonomic nervous system morphology pain abnormal nervous system physiology abnormal nervous system morphology morphological abnormality of the gastrointestinal tract functional abnormality of the gastrointestinal tract neurodevelopmental abnormality abnormality of enteric nervous system morphology abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology constitutional symptom nervous tissue neoplasm neuroectodermal neoplasm neuroepithelial neoplasm lung adenocarcinoma non-small cell lung carcinoma abnormal ear physiology abnormal urine carbohydrate level abnormality of the musculoskeletal system abnormal urine metabolite level abnormality of limbs abnormality of limb bone neoplasm of the central nervous system neoplasm of the thyroid gland neoplasm of the lung cognitive impairment neoplasm of the tracheobronchial system neoplasm of the endocrine system neoplasm of the respiratory system abnormal glial cell morphology abnormal astrocyte morphology sepsis malignant neoplasm of the central nervous system intestinal polyposis abnormality of the peripheral nervous system increased level of l-fucose in urine activator alternative initiation alternative splicing atp-binding chromosomal rearrangement glycoprotein kinase membrane nucleus nucleotide-binding phosphoprotein receptor signal transcription transcription regulation transferase transmembrane tyrosine-protein kinase cytoplasm endosome cell membrane disulfide bond transmembrane helix receptor l domain receptor l-domain protein kinase domain serine-threonine/tyrosine-protein kinase, catalytic domain furin-like cysteine-rich domain furin-like repeat tyrosine-protein kinase, active site growth factor receptor cysteine-rich domain superfamily protein kinase-like domain superfamily tyrosine protein kinase, egf/erb/xmrk receptor protein kinase, atp binding site tyrosine-protein kinase, catalytic domain growth factor receptor domain 4 receptor l-domain superfamily tyrosine kinase, catalytic domain furin-like repeats mapk cascade skeletal system development neuron migration epithelial to mesenchymal transition regulation of protein phosphorylation positive regulation of protein phosphorylation regulation of endothelial cell proliferation positive regulation of endothelial cell proliferation protein phosphorylation phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process cell communication signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway multicellular organism development nervous system development metabolic process positive regulation of cell population proliferation fibroblast growth factor receptor signaling pathway anatomical structure morphogenesis response to endogenous stimulus embryo development embryo development ending in birth or egg hatching animal organ morphogenesis tissue development positive regulation of metabolic process regulation of signal transduction positive regulation of signal transduction cellular process response to organic substance regulation of phospholipase activity positive regulation of phospholipase activity positive regulation of phosphorus metabolic process regulation of endothelial cell migration positive regulation of endothelial cell migration positive regulation of macromolecule metabolic process regulation of epithelial cell migration positive regulation of epithelial cell migration regulation of cell communication positive regulation of cell communication positive regulation of phospholipase c activity regulation of cell death regulation of phosphatidylinositol 3-kinase signaling positive regulation of phosphatidylinositol 3-kinase signaling phosphorylation cell migration peptidyl-tyrosine phosphorylation peptidyl-amino acid modification peptidyl-tyrosine modification regulation of phosphate metabolic process regulation of metabolic process protein metabolic process neurogenesis regulation of signaling signaling positive regulation of signaling cell differentiation regulation of cell migration positive regulation of cell migration regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of protein modification process positive regulation of protein modification process regulation of response to external stimulus positive regulation of response to external stimulus multicellular organismal process developmental process positive regulation of kinase activity intracellular signal transduction protein modification process regulation of locomotion positive regulation of locomotion regulation of cell population proliferation response to chemical regulation of phosphorylation positive regulation of phosphorylation regulation of apoptotic process chordate embryonic development regulation of programmed cell death positive regulation of catalytic activity macromolecule metabolic process regulation of map kinase activity positive regulation of map kinase activity regulation of mapk cascade positive regulation of mapk cascade macromolecule modification regulation of blood vessel endothelial cell migration positive regulation of blood vessel endothelial cell migration regulation of kinase activity positive regulation of molecular function cellular metabolic process primary metabolic process cellular response to fibroblast growth factor stimulus regulation of cell differentiation positive regulation of cell differentiation regulation of neuron differentiation positive regulation of neuron differentiation regulation of protein kinase activity positive regulation of protein kinase activity positive regulation of phosphate metabolic process protein autophosphorylation phosphatidylinositol-mediated signaling inositol lipid-mediated signaling animal organ development positive regulation of biological process positive regulation of cellular process regulation of response to stimulus positive regulation of response to stimulus generation of neurons skeletal system morphogenesis system development mesenchymal cell differentiation anatomical structure development cellular developmental process cell motility regulation of epithelial cell proliferation positive regulation of epithelial cell proliferation regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process response to stimulus regulation of chemotaxis positive regulation of chemotaxis positive regulation of developmental process regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process regulation of hydrolase activity regulation of transferase activity positive regulation of hydrolase activity positive regulation of transferase activity cellular response to stimulus regulation of protein kinase b signaling positive regulation of protein kinase b signaling regulation of lipase activity positive regulation of lipase activity regulation of macromolecule metabolic process mesenchyme development biological regulation regulation of molecular function response to growth factor cellular response to chemical stimulus cellular response to organic substance cellular response to growth factor stimulus cellular response to endogenous stimulus organic substance metabolic process response to fibroblast growth factor regulation of protein serine/threonine kinase activity positive regulation of protein serine/threonine kinase activity regulation of primary metabolic process regulation of cellular response to growth factor stimulus regulation of phospholipase c activity organonitrogen compound metabolic process regulation of intracellular signal transduction positive regulation of intracellular signal transduction regulation of cell chemotaxis to fibroblast growth factor positive regulation of cell chemotaxis to fibroblast growth factor regulation of vascular endothelial cell proliferation positive regulation of vascular endothelial cell proliferation regulation of cell motility positive regulation of cell motility regulation of endothelial cell chemotaxis to fibroblast growth factor positive regulation of endothelial cell chemotaxis to fibroblast growth factor regulation of endothelial cell chemotaxis positive regulation of endothelial cell chemotaxis regulation of apoptotic signaling pathway regulation of extrinsic apoptotic signaling pathway regulation of extrinsic apoptotic signaling pathway in absence of ligand nucleotide binding catalytic activity protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity transmembrane signaling receptor activity fibroblast growth factor receptor activity signaling receptor binding binding protein binding atp binding glycosaminoglycan binding heparin binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding fibroblast growth factor binding transmembrane receptor protein kinase activity growth factor binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding signaling receptor activity identical protein binding protein homodimerization activity ion binding anion binding protein dimerization activity molecular transducer activity receptor-receptor interaction organic cyclic compound binding carbohydrate derivative binding catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding sulfur compound binding extracellular region intracellular anatomical structure nucleus cytoplasm cytosol plasma membrane integral component of plasma membrane membrane integral component of membrane intrinsic component of membrane intrinsic component of plasma membrane cytoplasmic vesicle vesicle protein-containing complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle receptor complex cell periphery intracellular vesicle cellular anatomical entity mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and tyrosine-protein kinase, catalytic domain mixed, incl. constitutive signaling by aberrant pi3k in cancer, and fceri mediated ca+2 mobilization constitutive signaling by aberrant pi3k in cancer, and vegf ligand-receptor interactions constitutive signaling by aberrant pi3k in cancer, and vegf ligand-receptor interactions mixed, incl. fgfr2 ligand binding and activation, and pdgf/vegf domain activated point mutants of fgfr2, and fibroblast growth factor receptor activity fgfr4 ligand binding and activation, and ladd syndrome fgfr4 ligand binding and activation, and muenke syndrome betaklotho-mediated ligand binding, and fgfr1c and klotho ligand binding and activation mapk signaling pathway ras signaling pathway rap1 signaling pathway pi3k-akt signaling pathway adherens junction signaling pathways regulating pluripotency of stem cells thermogenesis regulation of actin cytoskeleton parathyroid hormone synthesis, secretion and action pathways in cancer proteoglycans in cancer prostate cancer melanoma breast cancer central carbon metabolism in cancer pi3k cascade irs-mediated signalling signaling by fgfr in disease pip3 activates akt signaling developmental biology signal transduction disease signaling by fgfr1 amplification mutants signaling by activated point mutants of fgfr1 fgfr1 mutant receptor activation signaling by fgfr fgfr1 ligand binding and activation fgfr1b ligand binding and activation fgfr1c ligand binding and activation fgfr1c and klotho ligand binding and activation negative regulation of the pi3k/akt network pi3k/akt signaling in cancer constitutive signaling by aberrant pi3k in cancer signaling by type 1 insulin-like growth factor 1 receptor (igf1r) igf1r signaling cascade irs-related events triggered by igf1r l1cam interactions ncam signaling for neurite out-growth axon guidance signal transduction by l1 phospholipase c-mediated cascade: fgfr1 downstream signaling of activated fgfr1 shc-mediated cascade:fgfr1 pi-3k cascade:fgfr1 frs-mediated fgfr1 signaling negative regulation of fgfr1 signaling signaling by fgfr1 signaling by fgfr1 in disease diseases of signal transduction by growth factor receptors and second messengers raf/map kinase cascade mapk family signaling cascades mapk1/mapk3 signaling pi5p, pp2a and ier3 regulate pi3k/akt signaling insulin receptor signalling cascade signaling by insulin receptor signaling by plasma membrane fgfr1 fusions intracellular signaling by second messengers signaling by receptor tyrosine kinases nervous system development epithelial-mesenchymal transition (emt) during gastrulation gastrulation formation of paraxial mesoderm neural crest differentiation glioblastoma signaling pathways mesodermal commitment pathway mapk signaling pathway embryonic stem cell pluripotency pathways focal adhesion: pi3k-akt-mtor-signaling pathway prion disease pathway endometrial cancer pi3k-akt signaling pathway ras signaling breast cancer pathway thermogenesis hippo signaling regulation pathways hippo-merlin signaling dysregulation 22q11.2 copy number variation syndrome head and neck squamous cell carcinoma endochondral ossification thyroid hormones production and peripheral downstream signaling effects osteoblast differentiation and related diseases endochondral ossification with skeletal dysplasias burn wound healing kallmann syndrome malignant pleural mesothelioma regulation of actin cytoskeleton metabolic pathways of fibroblasts monogenic disease autosomal dominant disease autosomal recessive disease autosomal genetic disease benign neoplasm organ system benign neoplasm central nervous system benign neoplasm nervous system benign neoplasm chromosomal duplication syndrome muenke syndrome bone disease bone development disease chromosomal disease physical disorder hypogonadotropic hypogonadism jackson-weiss syndrome osteoglophonic dysplasia synostosis acrocephalosyndactylia disease of cellular proliferation pfeiffer syndrome musculoskeletal system disease klinefelter syndrome hypogonadism dysostosis syndrome osteochondrodysplasia gonadal disease crouzon syndrome craniosynostosis congenital nervous system abnormality dysembryoplastic neuroepithelial tumor endocrine system disease central nervous system disease kallmann syndrome disease holoprosencephaly genetic disease connective tissue disease disease of anatomical entity nervous system disease tissues, cell types and enzyme sources animal alimentary canal male reproductive gland reproductive system male reproductive system female reproductive system bone marrow brain embryonic structure respiratory system teratocarcinoma cell central nervous system female reproductive gland colon testicular cancer cell head organism form carcinoma cell line digestive gland lung cell line embryo plasma cell fetus fibroblast cell line gastrointestinal tract gland gonad intestine large intestine liver lung cancer cell line lung pancreas placenta epithelial cell line testis umbilical cord uterus nervous system skeletal system endocrine gland whole body viscus umbilical vein colorectum skin fibroblast cell line foreskin fibroblast cell line non-small cell lung cancer cell line urogenital system internal male genital organ internal female genital organ embryonic brain bone marrow cell nci-h1581 cell extracellular region intracellular nucleus cytoplasm cytosol plasma membrane membrane integral component of membrane intrinsic component of membrane protein-containing complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle receptor complex cell periphery cellular anatomical entity sign or symptom cleft lip cardiovascular measurement anthropometric measurement heart function measurement body weights and measures electrocardiography body height waist-hip ratio hematological measurement urate measurement calcium measurement red blood cell distribution width cardiovascular disease biomarker measurement body ratio measurement abnormality of body height abnormal morphology of female internal genitalia hypoplasia of the uterus inguinal hernia functional abnormality of male internal genitalia male hypogonadism azoospermia cryptorchidism abnormality of male external genitalia abnormal testis morphology abnormal penis morphology long penis chordee hypogonadotropic hypogonadism hypospadias hypoplastic male external genitalia micropenis abnormality of the kidney abnormality of the genital system abnormality of the urinary system abnormality of reproductive system physiology ectopic kidney proteinuria renal agenesis phenotypic abnormality abnormality of the genitourinary system pelvic kidney hydronephrosis abnormality of the uterus female hypogonadism hypogonadism abnormality of the ovary abnormality of the menstrual cycle amenorrhea decreased fertility abnormality of head or neck abnormality of the mouth abnormal lip morphology median cleft lip abnormal oral cavity morphology abnormality of the dentition abnormal uvula morphology abnormal palate morphology cleft palate abnormal upper lip morphology cleft soft palate bifid uvula open mouth oral cleft cleft upper lip high palate abnormality of the head abnormality of the fontanelles or cranial sutures hydrocephalus abnormality of skull size trigonocephaly brachyturricephaly brachycephaly microcephaly macrocephaly turricephaly abnormality of the face malar flattening small face abnormal mandible morphology epicanthus abnormality of the philtrum broad philtrum abnormality of the forehead mandibular prognathia abnormality of the chin abnormal midface morphology abnormality of the orbital region hypertelorism short philtrum facial asymmetry abnormality of the maxilla hypoplasia of the maxilla prominent supraorbital ridges long philtrum micrognathia high forehead abnormality of the outer ear abnormal location of ears posteriorly rotated ears hearing abnormality hearing impairment abnormality of the nose low-set, posteriorly rotated ears low-set ears abnormal pinna morphology abnormal periauricular region morphology preauricular skin tag macrotia sensorineural hearing impairment protruding ear abnormality of the choanae abnormal nasal bridge morphology abnormal morphology of the nasal alae wide nasal bridge abnormal nasal tip morphology depressed nasal tip convex nasal ridge wide nose choanal stenosis choanal atresia depressed nasal ridge anosmia anteverted nares abnormality of the neck short neck abnormality of the eye abnormal retinal morphology abnormal cornea morphology strabismus retinopathy deeply set eye abnormal eyelid morphology downslanted palpebral fissures abnormality of eye movement abnormal eyelash morphology abnormal conjunctiva morphology abnormality of vision visual impairment telecanthus ptosis proptosis abnormality iris morphology anophthalmia abnormal chorioretinal morphology abnormal eyebrow morphology abnormal conjugate eye movement color vision defect abnormal uvea morphology chorioretinal coloboma microphthalmia thick eyebrow blepharophimosis upslanted palpebral fissure shallow orbits abnormality of the optic nerve coloboma abnormal sclera morphology abnormal anterior chamber morphology abnormality of the ear abnormality of the pharynx hypotelorism abnormality of the periorbital region optic nerve hypoplasia abnormal choroid morphology iris coloboma abnormal nasolacrimal system morphology eyelid coloboma nystagmus sclerocornea optic atrophy synophrys abnormality of the incisor oligodontia dental crowding taurodontia abnormal dental enamel morphology delayed eruption of teeth hypoplasia of teeth widely spaced teeth dental malocclusion agenesis of maxillary lateral incisor microdontia tooth malposition delayed eruption of permanent teeth conical tooth eruption failure abnormality of the nervous system behavioral abnormality depression autism autistic behavior short attention span irritability anxiety apathy diminished motivation delayed speech and language development hyperactivity abnormal thorax morphology abnormality of the breast gynecomastia abnormality of the diaphragm congenital diaphragmatic hernia abnormal scapula morphology primary amenorrhea abnormality of the urethra impotence abnormal external genitalia abnormal internal genitalia abnormality of the endocrine system diabetes mellitus abnormality of the thyroid gland hypothyroidism delayed puberty decreased response to growth hormone stimulation test anterior hypopituitarism abnormality of the hypothalamus-pituitary axis secondary amenorrhea panhypopituitarism diabetes insipidus hypoplastic scapulae abnormal clavicle morphology abnormality of the skeletal system abnormality of the vertebral column platyspondyly abnormality of skeletal maturation abnormal skull morphology abnormal posterior cranial fossa morphology osteopenia osteoporosis abnormal diaphysis morphology dysostosis multiplex abnormality of the skin hyperpigmentation of the skin dry skin hypohidrosis xanthomatosis hypertrichosis abnormality of skin pigmentation abnormality of subcutaneous fat tissue multiple lipomas hemangioma subcutaneous lipoma nevus flammeus thickened skin abnormal fundus morphology limbal dermoid abnormality of the hand brachydactyly syndactyly hand polydactyly abnormality of finger broad palm split hand abnormal thumb morphology abnormal carpal morphology abnormality of prenatal development or birth broad metacarpals intellectual disability seizure ataxia hypotonia lethargy spasticity dysarthria global developmental delay hemiparesis abnormal corpus callosum morphology agenesis of corpus callosum hypertonia gait disturbance dandy-walker malformation abnormal cerebellum morphology neonatal hypotonia cerebellar vermis hypoplasia cerebellar hypoplasia muscle weakness specific learning disability absent septum pellucidum dystonia bimanual synkinesia tremor absent speech holoprosencephaly craniosynostosis abnormal joint morphology flexion contracture joint dislocation limitation of joint mobility joint hypermobility abnormal hip joint morphology hip dysplasia joint laxity abnormality of the upper arm subcutaneous nodule broad finger growth abnormality failure to thrive growth delay intrauterine growth retardation obesity failure to thrive in infancy omphalocele abnormal ileum morphology abnormality of the integument selective tooth agenesis abnormal hair morphology alopecia abnormality of the nail abnormality of the voice abnormality of the cardiovascular system abnormal heart morphology ventricular septal defect atrial septal defect tetralogy of fallot abnormal pulmonary valve morphology aortic valve stenosis abnormal heart valve morphology abnormal cardiac septum morphology abnormal aortic morphology coarctation of aorta subvalvular aortic stenosis abnormal tricuspid valve morphology tricuspid valve prolapse conotruncal defect abnormal left ventricle morphology abnormal cardiac ventricle morphology abnormal nasopharynx morphology nasal congestion abnormality of the spleen abnormal foot morphology pes cavus pes planus broad foot toe syndactyly short foot abnormality of toe broad metatarsal small nail hypoplastic toenails foot polydactyly short toe abnormal metatarsal morphology broad toe split foot preaxial foot polydactyly abnormality of the hallux abnormality of the tarsal bones talipes abnormality of metabolism/homeostasis hypoglycemia glucose intolerance polydipsia aplasia/hypoplasia of metatarsal bones aplasia/hypoplasia of toe abnormal facial shape deep philtrum frontal bossing morphological central nervous system abnormality abnormality of the abdominal organs vomiting dysphagia nausea and vomiting constipation gastroesophageal reflux abnormal esophagus morphology esophageal atresia poor suck cerebral atrophy abnormal cerebral morphology rigidity chorea hypoplasia of the corpus callosum encephalocele abnormality of the respiratory system abnormality of the upper respiratory tract abnormal lung morphology pneumonia pulmonary arterial hypertension respiratory insufficiency dyspnea respiratory distress apnea abnormal cerebral ventricle morphology ventriculomegaly cerebral cortical atrophy porencephalic cyst abnormality of the spinal cord neurological speech impairment apraxia dilated fourth ventricle facial hypertrichosis sparse body hair abnormal intestine morphology abnormality of the small intestine meckel diverticulum abnormality of neuronal migration abnormality of the autonomic nervous system mutism hemiplegia chiari malformation abnormal cerebellar vermis morphology cerebellar cyst obsolete dysphasia sleep disturbance abnormal brainstem morphology aphasia aqueductal stenosis cerebellar malformation tetraplegia limb dystonia language impairment poor speech upper motor neuron dysfunction abnormal cerebral white matter morphology cerebral calcification abnormal cerebral cortex morphology cortical dysplasia inability to walk highly arched eyebrow tracheoesophageal fistula gastrointestinal atresia abnormality of the vasculature abnormal pelvic girdle bone morphology scoliosis skeletal dysplasia increased susceptibility to fractures neoplasm cloverleaf skull abnormal calvaria morphology prenatal maternal abnormality hypoplastic facial bones abnormality of the skull base abnormality of the immune system delayed skeletal maturation recurrent fractures generalized joint laxity abnormal cartilage morphology abnormal tracheal morphology bronchomalacia abnormal pattern of respiration abnormal respiratory system physiology osteolysis abnormality of limb bone morphology abnormality of the lower limb abnormality of the upper limb abnormal morphology of the radius hip dislocation central apnea hyponatremia abnormal cerebrospinal fluid morphology abnormality of thyroid physiology hemivertebrae abnormal forearm morphology aplasia/hypoplasia involving the central nervous system abnormality of the calf abnormality of fibula morphology abnormality of the musculature abnormality of the wrist short long bone humeroradial synostosis abnormality of the humerus elbow ankylosis abnormality of urine homeostasis abnormal blood ion concentration abnormal circulating hormone concentration hypothalamic gonadotropin-releasing hormone deficiency breast hypoplasia short nose hypernatremia external genital hypoplasia abnormal hip bone morphology hyperlordosis abnormal form of the vertebral bodies abnormality of the cervical spine abnormal bone structure vertebral segmentation defect abnormal vertebral morphology paralysis disproportionate short stature proportionate short stature severe short stature abnormality of connective tissue muscle stiffness nevus eunuchoid habitus short middle phalanx of toe abnormal muscle tone synostosis involving the elbow deviation of finger abnormal 5th finger morphology clinodactyly of the 5th finger duplication of hand bones synostosis involving bones of the hand short palm abnormality of the abdominal wall hernia of the abdominal wall involuntary movements short stature abnormality of body weight increased body weight decreased body weight abnormal anterior eye segment morphology abnormal posterior eye segment morphology abnormality of bone mineral density reduced bone mineral density abnormality of temperature regulation reduced consciousness/confusion hemiplegia/hemiparesis neoplasm of the nervous system abnormal nipple morphology abnormality of the sense of smell hyposmia abnormality of the pulmonary artery pulmonary artery stenosis abnormal cheek morphology cranial hyperostosis coronal craniosynostosis craniofacial hyperostosis 2-3 toe syndactyly elevated pulmonary artery pressure abnormality of the pulmonary vasculature peripheral pulmonary artery stenosis synostosis of carpal bones abnormal nasal morphology abnormal cardiac atrium morphology impaired mastication abnormality of the synovia depressed nasal bridge abnormal nostril morphology capillary hemangioma tracheal cartilaginous sleeve enlarged posterior fossa hypoplasia of the frontal bone flat occiput abnormal tracheobronchial morphology broad long bones positional foot deformity joint hyperflexibility short middle phalanx of finger pseudoarthrosis aplasia/hypoplasia involving the metacarpal bones abnormal metacarpal morphology abnormal finger phalanx morphology abnormal hand morphology aplasia/hypoplasia involving bones of the hand temperature instability broad phalanx finger syndactyly shortening of all middle phalanges of the fingers aplasia/hypoplasia of fingers multiple unerupted teeth agenesis of central incisor abnormality of dental eruption enamel hypoplasia solitary median maxillary central incisor short dental root peg-shaped maxillary lateral incisors abnormality of primary molar morphology abnormal dental pulp morphology abnormality of primary teeth abnormality of dental morphology abnormal number of teeth agenesis of incisor abnormal dental root morphology bowing of the long bones aplasia/hypoplasia involving bones of the lower limbs aplasia/hypoplasia involving bones of the feet aplasia/hypoplasia involving bones of the upper limbs aplasia/hypoplasia of the radius aplasia/hypoplasia involving forearm bones chronic lung disease wide intermamillary distance aplasia/hypoplasia of the lungs abnormal atrioventricular valve morphology aplasia/hypoplasia involving bones of the thorax aplasia/hypoplasia of the scapulae aplasia/hypoplasia of the cerebellar vermis lobar holoprosencephaly sleep-wake cycle disturbance attention deficit hyperactivity disorder oromotor apraxia aplasia/hypoplasia of the cerebellum aplasia/hypoplasia of the cerebrum atrophy/degeneration affecting the central nervous system atrophy/degeneration affecting the cerebrum aplasia/hypoplasia of the corpus callosum abnormal septum pellucidum morphology irregular hyperpigmentation hemangiomatosis linear hyperpigmentation hypohidrosis or hyperhidrosis hypoplasia of the iris ocular anterior segment dysgenesis optic disc hypoplasia corneal opacity abnormality of the palpebral fissures aplasia/hypoplasia of the iris aplasia/hypoplasia affecting the uvea aplasia/hypoplasia affecting the eye aplasia/hypoplasia affecting the fundus aplasia/hypoplasia of the optic nerve aplasia/hypoplasia affecting the anterior segment of the eye ichthyosis neoplasm of the skin sparse hair hallux varus calcaneonavicular fusion absence of secondary sex characteristics absence of pubertal development gonadotropin deficiency aplasia/hypoplasia of the hallux tarsal synostosis puberty and gonadal disorders aplasia/hypoplasia of the nails abnormal toenail morphology lumbar hemivertebrae median cleft lip and palate congenital sensorineural hearing impairment external ear malformation abnormal spermatogenesis renal hypoplasia/aplasia aplasia/hypoplasia of the uterus hypoplasia of the ovary decreased testicular size hypoplasia of penis feeding difficulties in infancy disproportionate short-limb short stature rhizomelia axial hypotonia infantile muscular hypotonia infantile axial hypotonia median cleft palate aplasia/hypoplasia involving the skeleton aplasia/hypoplasia involving bones of the skull aplasia/hypoplasia of the mandible abnormal axial skeleton morphology aplasia/hypoplasia affecting bones of the axial skeleton abnormal adipose tissue morphology lipodystrophy duplication involving bones of the feet synostosis involving bones of the lower limbs synostosis involving bones of the feet duplication of bones involving the upper extremities deviation of the 5th finger short finger deviation of the hand or of fingers of the hand aplasia/hypoplasia of the thumb abnormality of thumb phalanx carpal synostosis abnormal antihelix morphology aplasia/hypoplasia of the phalanges of the hand broad phalanges of the hand symphalangism affecting the phalanges of the hand branchial anomaly maternal diabetes short phalanx of finger tooth agenesis abnormality of upper limb joint abnormality of the elbow aplasia/hypoplasia of the extremities limb undergrowth abnormal middle phalanx morphology of the hand aplasia/hypoplasia of the middle phalanges of the hand underdeveloped supraorbital ridges cyclopia aplasia/hypoplasia involving the nose single naris duplication of phalanx of hand short metacarpal deviation of the hallux broad hallux abnormal hallux phalanx morphology broad hallux phalanx short hallux abnormality of the phalanges of the toes broad phalanx of the toes abnormality of the middle phalanges of the toes spinal dysraphism spinal cord tumor aplasia/hypoplasia of the breasts abnormal ventricular septum morphology polydactyly abnormality of the female genitalia abnormality of the male genitalia aplasia/hypoplasia of the ovary aplasia/hypoplasia of the testes echolalia weakness due to upper motor neuron dysfunction paraplegia paraplegia/paraparesis intracranial cystic lesion skin tags neoplasm of the skeletal system aplastic/hypoplastic toenail anterior pituitary dysgenesis anterior pituitary hypoplasia abnormal meningeal morphology abnormal dura mater morphology abnormality of the falx cerebri aplasia of the falx cerebri abnormality of the diencephalon abnormal zygomatic bone morphology hypoplasia of the zygomatic bone abnormality of the curvature of the vertebral column short metatarsal absent toe ectopic calcification abdominal wall defect avascular necrosis abnormal blood cation concentration abnormal blood monovalent inorganic cation concentration abnormal blood sodium concentration abnormality of the upper urinary tract abnormality of the lower urinary tract abnormal external nose morphology abnormal renal pelvis morphology dilatation of the renal pelvis abnormal fourth ventricle morphology abnormality of immune system physiology abnormal cerebral subcortex morphology abnormal systemic arterial morphology abnormal glucose homeostasis abnormal blood glucose concentration abnormality of the gastrointestinal tract abnormal cardiovascular system physiology agenesis of premolar agenesis of mandibular premolar agenesis of molar agenesis of permanent molar agenesis of first permanent molar tooth abnormality of dental structure abnormal incisor morphology abnormal number of incisors conical incisor abnormal molar morphology abnormality of permanent molar morphology abnormality of premolar abnormality of molar abnormality of canine intestinal atresia abnormal left ventricular outflow tract morphology abnormal nasal dorsum morphology abnormality of skin morphology abnormality of skin adnexa morphology abnormal shape of the occiput abnormal shape of the frontal region short face aplasia/hypoplasia of the eyelid abnormality of the urinary system physiology abnormal hindbrain morphology abnormal metencephalon morphology abnormal digit morphology broad thumb abnormal long bone morphology bicoronal synostosis abnormality of cranial sutures abnormality of mouth shape generalized abnormality of skin localized skin lesion abnormal hair quantity epidermal thickening functional abnormality of the inner ear abnormal central motor function abnormality of coordination abnormality of higher mental function abdominal symptom gastrostomy tube feeding in infancy abnormal connection of the cardiac segments abnormal ventriculoarterial connection congenital malformation of the great arteries interrupted aortic arch arrhythmia abnormality of joint mobility abnormality of the anterior pituitary central hypothyroidism neoplasm by anatomical site midface retrusion abnormal muscle physiology abnormal skeletal muscle morphology cephalocele abnormal facial skeleton morphology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology abnormal bone ossification short digit respiratory tract infection aspiration pneumonia non-obstructive azoospermia feeding difficulties abnormal atrial septum morphology lipomatous tumor lipoma bone cyst subcortical cerebral atrophy abnormal renal morphology abnormal reproductive system morphology abnormal respiratory system morphology abnormal hypothalamus physiology abnormal occipital bone morphology abnormal aortic arch morphology abnormal homeostasis flat face abnormal eye morphology abnormal eye physiology fatigue camptodactyly abnormality of brain morphology brain atrophy eclabion abnormality of the pituitary gland abnormal involuntary eye movements abnormal nervous system physiology abnormal nervous system morphology abnormal inflammatory response increased inflammatory response morphological abnormality of the gastrointestinal tract functional abnormality of the gastrointestinal tract neurodevelopmental delay neurodevelopmental abnormality abnormal optic disc morphology proboscis abnormal male reproductive system physiology abnormal urine protein level abnormal vascular morphology abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology capillary malformation constitutional symptom abnormal esophagus physiology abnormality of skin adnexa physiology obsolete psychomotor retardation abnormal bronchus morphology abnormal neck morphology abnormal female reproductive system physiology female sexual dysfunction dyspareunia increased female libido flexion contracture of digit abnormal drinking behavior clinodactyly abnormal circulating testosterone concentration abnormal vascular physiology tetraplegia/tetraparesis lower extremity joint dislocation abnormal circulating androgen level decreased circulating androgen concentration abnormal ocular adnexa morphology abnormality of cardiovascular system morphology central nervous system cyst abnormal jaw morphology abnormality of pulmonary circulation abnormality of cardiovascular system electrophysiology abnormal morphology of the great vessels abnormal pulmonary artery morphology ankylosis abnormal ovarian morphology abnormal ovarian physiology abnormal endocrine physiology abnormal response to endocrine stimulation test abnormal breast morphology impairment in personality functioning abnormal aortic valve physiology abnormal heart valve physiology abnormal ear morphology abnormal ear physiology abnormal oral physiology abnormal oral morphology abnormal libido abnormal heart rate variability abnormality of the ocular adnexa abnormal male urethral meatus morphology abnormal circulating metabolite concentration abnormality of the musculoskeletal system abnormal pharynx morphology abnormal blood vessel morphology abnormal urine metabolite level tube feeding pre-capillary pulmonary hypertension thin corpus callosum abnormal circulating sex hormone concentration abnormal temporal lobe morphology open neural tube defect aplasia/hypoplasia of facial bones joint contracture abnormal joint physiology finger clinodactyly abnormality of limbs abnormality of limb bone abnormal lower limb bone morphology abnormal upper limb bone morphology abnormal forearm bone morphology hypopituitarism abnormal intermamillary distance decreased serum testosterone concentration osteochondrosis increased head circumference decreased head circumference abnormal consumption behavior abnormal size of the dental root male sexual dysfunction abnormal morphology of the olfactory bulb neural tube defect abnormality of the testis size aplasia/hypoplasia involving bones of the extremities increased libido neoplasm of the central nervous system abnormality of movement synostosis involving bones of the upper limbs synostosis of joints multiple central nervous system lipomas ectrodactyly preaxial polydactyly abnormal tendon morphology synostosis of carpals/tarsals juvenile aseptic necrosis non-midline cleft lip bilateral cleft lip abnormality of lower limb joint deviation of toes abnormality of the supraorbital ridges abnormal localization of kidney cognitive impairment abnormal forebrain morphology absent nares displacement of the urethral meatus erectile dysfunction abnormal arachnoid mater morphology arachnoid cyst cerebral visual impairment abnormal soft palate morphology vascular neoplasm abnormality of the humeroradial joint visceral angiomatosis abnormality of the lymphatic system hyperostosis hernia benign neoplasm of the central nervous system septo-optic dysplasia abnormal emotion/affect behavior abnormal fear/anxiety-related behavior abnormal palm morphology abnormality of globe location abnormality of globe size slanting of the palpebral fissure abnormal size of the palpebral fissures neoplasm of fatty tissue skin nodule agenesis of lateral incisor agenesis of maxillary incisor abnormality of the peripheral nervous system cleft lip abnormal neural tube morphology abnormal frontal bone morphology abnormal gonadotropin-releasing hormone concentration abnormal morphology of bony orbit of skull abnormal odontoid tissue morphology abnormal lung development alternative splicing atp-binding chromosomal rearrangement dwarfism glycoprotein heparin-binding holoprosencephaly immunoglobulin domain kinase membrane nucleus nucleotide-binding phosphoprotein receptor repeat signal transcription transcription regulation transferase transmembrane tyrosine-protein kinase ubl conjugation kallmann syndrome cytoplasm cytoplasmic vesicle craniosynostosis cell membrane disulfide bond hypogonadotropic hypogonadism transmembrane helix protein kinase domain serine-threonine/tyrosine-protein kinase, catalytic domain immunoglobulin subtype 2 immunoglobulin subtype immunoglobulin-like domain tyrosine-protein kinase, active site protein kinase-like domain superfamily immunoglobulin i-set immunoglobulin immunoglobulin-like fold fibroblast growth factor receptor family protein kinase, atp binding site tyrosine-protein kinase, catalytic domain fibroblast growth factor receptor 1, catalytic domain immunoglobulin-like domain superfamily tyrosine kinase, catalytic domain immunoglobulin c-2 type reproduction negative regulation of transcription by rna polymerase ii cell morphogenesis cell morphogenesis involved in differentiation skeletal system development ossification angiogenesis blood vessel development urogenital system development ureteric bud development in utero embryonic development formation of primary germ layer mesoderm formation morphogenesis of a branching structure kidney development mesonephros development epithelial to mesenchymal transition placenta development embryonic placenta development hair follicle development vasculature development morphogenesis of an epithelium positive regulation of mesenchymal cell proliferation columnar/cuboidal epithelial cell differentiation glandular epithelial cell differentiation response to molecule of bacterial origin immune system process immune system development regionalization developmental process involved in reproduction heart morphogenesis outflow tract septum morphogenesis membranous septum morphogenesis outflow tract morphogenesis cardiac chamber development cardiac chamber morphogenesis cardiac ventricle morphogenesis ventricular cardiac muscle tissue development cardiac ventricle development cardiac septum development ventricular septum development axis elongation endochondral bone growth regulation of transcription, dna-templated regulation of transcription by rna polymerase ii protein phosphorylation phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process apoptotic process response to stress cell communication signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway cell-cell signaling multicellular organism development gastrulation pattern specification process nervous system development neuroblast proliferation axonogenesis central nervous system development brain development sensory organ development salivary gland development salivary gland morphogenesis mesoderm development heart development muscle organ development metabolic process cell death cell population proliferation positive regulation of cell population proliferation negative regulation of cell population proliferation fibroblast growth factor receptor signaling pathway epidermis development regulation of smoothened signaling pathway response to external stimulus response to biotic stimulus response to wounding response to bacterium anatomical structure morphogenesis response to endogenous stimulus embryo development post-embryonic development embryo development ending in birth or egg hatching embryonic pattern specification animal organ morphogenesis tissue development regulation of biosynthetic process negative regulation of biosynthetic process positive regulation of biosynthetic process negative regulation of metabolic process positive regulation of metabolic process regulation of signal transduction positive regulation of signal transduction cellular process response to organic substance specification of animal organ identity mesenchymal cell proliferation regulation of mesenchymal cell proliferation regulation of gene expression regulation of phospholipase activity positive regulation of phospholipase activity regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process negative regulation of macromolecule biosynthetic process positive regulation of phosphorus metabolic process positive regulation of macromolecule metabolic process negative regulation of macromolecule metabolic process regulation of cell communication positive regulation of cell communication regulation of keratinocyte proliferation negative regulation of keratinocyte proliferation regulation of cell death programmed cell death striated muscle tissue development cellular component organization phosphorylation morphogenesis of embryonic epithelium peptidyl-tyrosine phosphorylation peptidyl-amino acid modification peptidyl-tyrosine modification regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process protein metabolic process limbic system development orbitofrontal cortex development cell proliferation in forebrain ventricular zone neuroblast division pyramidal neuron differentiation pyramidal neuron development forebrain ventricular zone progenitor cell division forebrain generation of neurons forebrain neuroblast division forebrain neuron differentiation forebrain neuron development central nervous system neuron differentiation central nervous system neuron development neurogenesis molting cycle process hair cycle process reproductive process regulation of anatomical structure morphogenesis gland morphogenesis regulation of signaling signaling positive regulation of signaling cell projection organization hemopoiesis regulation of wnt signaling pathway cell differentiation positive regulation of wnt signaling pathway neuron differentiation bone mineralization respiratory tube development lung development prostate gland development epithelial cell differentiation mammary gland development forebrain development midbrain development otic vesicle formation hair follicle morphogenesis neuron projection development biomineral tissue development regulation of cellular metabolic process negative regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process negative regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process response to lipopolysaccharide multicellular organismal process developmental process response to retinoic acid lacrimal gland development cellular component morphogenesis cell part morphogenesis positive regulation of kinase activity regulation of osteoblast proliferation response to lipid appendage morphogenesis limb morphogenesis tube formation tube morphogenesis organ growth exocrine system development tube development fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow cell fibroblast growth factor receptor signaling pathway involved in hemopoiesis fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development protein modification process growth regulation of growth wound healing regulation of cell population proliferation response to chemical molting cycle regulation of phosphorylation positive regulation of phosphorylation ear morphogenesis inner ear morphogenesis odontogenesis hair cycle regulation of apoptotic process chordate embryonic development negative regulation of apoptotic process regulation of programmed cell death negative regulation of programmed cell death positive regulation of catalytic activity macromolecule metabolic process response to external biotic stimulus regulation of mapk cascade positive regulation of mapk cascade macromolecule modification regulation of kinase activity ear development skin development positive regulation of molecular function cellular metabolic process primary metabolic process cellular response to fibroblast growth factor stimulus biological process involved in interspecies interaction between organisms cell fate commitment response to ethanol regulation of cell differentiation regulation of osteoblast differentiation positive regulation of cell cycle negative regulation of transcription, dna-templated positive regulation of transcription, dna-templated positive regulation of growth negative regulation of nucleobase-containing compound metabolic process positive regulation of nucleobase-containing compound metabolic process positive regulation of phosphate metabolic process positive regulation of transcription by rna polymerase ii regulation of organ growth positive regulation of organ growth protein autophosphorylation lung alveolus development mesoderm morphogenesis mesodermal cell differentiation cell development animal organ development blood vessel morphogenesis positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process hematopoietic or lymphoid organ development digestive tract morphogenesis embryonic digestive tract morphogenesis embryonic organ morphogenesis digestive tract development embryonic digestive tract development embryonic organ development regulation of response to stimulus positive regulation of response to stimulus developmental growth embryonic morphogenesis reproductive structure development regulation of developmental growth positive regulation of developmental growth muscle organ morphogenesis animal organ formation anatomical structure formation involved in morphogenesis regulation of smooth muscle cell proliferation positive regulation of smooth muscle cell proliferation neuron development cell morphogenesis involved in neuron differentiation generation of neurons embryonic cranial skeleton morphogenesis embryonic skeletal system morphogenesis skeletal system morphogenesis embryonic skeletal system development tissue morphogenesis epidermis morphogenesis system development gland development appendage development cardiac muscle tissue development branching morphogenesis of an epithelial tube branching morphogenesis of a nerve mesenchymal cell differentiation neuron projection morphogenesis inner ear development anatomical structure development cell projection morphogenesis stem cell differentiation cellular developmental process epithelial cell proliferation regulation of epithelial cell proliferation positive regulation of epithelial cell proliferation negative regulation of epithelial cell proliferation regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process response to stimulus positive regulation of developmental process regulation of muscle cell differentiation regulation of smooth muscle cell differentiation regulation of nitrogen compound metabolic process negative regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process regulation of multicellular organismal process positive regulation of multicellular organismal process regulation of rna metabolic process negative regulation of rna metabolic process positive regulation of rna metabolic process cell division regulation of cell division regulation of hydrolase activity regulation of transferase activity positive regulation of hydrolase activity positive regulation of transferase activity response to other organism cellular response to stimulus regulation of cell cycle positive regulation of cell division cardiac muscle tissue morphogenesis ventricular cardiac muscle tissue morphogenesis regulation of cardiac muscle tissue growth positive regulation of cardiac muscle tissue growth neuroblast division digestive system development regulation of cardiac muscle cell proliferation positive regulation of cardiac muscle cell proliferation limb development limb bud formation regulation of lipase activity positive regulation of lipase activity regulation of macromolecule metabolic process head development bone development bone morphogenesis cardiac septum morphogenesis ventricular septum morphogenesis muscle tissue morphogenesis regulation of heart growth positive regulation of heart growth lung morphogenesis epithelium development epithelial tube branching involved in lung morphogenesis branching involved in prostate gland morphogenesis mammary gland morphogenesis branching involved in salivary gland morphogenesis bud elongation involved in lung branching lung lobe development lung lobe morphogenesis lung-associated mesenchyme development mesenchyme development positive regulation of epithelial cell proliferation involved in lung morphogenesis prostate gland morphogenesis prostate epithelial cord elongation prostate glandular acinus development prostate glandular acinus morphogenesis prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis squamous basal epithelial stem cell differentiation involved in prostate gland acinus development muscle tissue development respiratory system development negative regulation of cell death developmental growth involved in morphogenesis epithelial tube morphogenesis morphogenesis of an epithelial fold morphogenesis of an epithelial bud mammary gland formation mammary gland specification fibroblast growth factor receptor signaling pathway involved in mammary gland specification lateral sprouting from an epithelium branch elongation of an epithelium mammary gland duct morphogenesis mammary gland bud formation mammary gland bud morphogenesis epithelial cell proliferation involved in salivary gland morphogenesis branch elongation involved in salivary gland morphogenesis embryonic placenta morphogenesis branching involved in labyrinthine layer morphogenesis regulation of morphogenesis of a branching structure labyrinthine layer development labyrinthine layer morphogenesis prostate gland growth prostate gland morphogenetic growth prostate gland epithelium morphogenesis epithelial cell differentiation involved in prostate gland development regulation of canonical wnt signaling pathway mesenchymal cell differentiation involved in lung development mesenchymal cell proliferation involved in lung development muscle structure development morphogenesis of a branching epithelium mammary gland epithelium development neural precursor cell proliferation reproductive system development axon development biological regulation regulation of molecular function regulation of erk1 and erk2 cascade positive regulation of erk1 and erk2 cascade response to growth factor cellular response to chemical stimulus cellular response to retinoic acid cellular response to organic substance cellular response to growth factor stimulus cellular response to lipid cellular response to endogenous stimulus response to transforming growth factor beta cellular response to transforming growth factor beta stimulus otic vesicle development otic vesicle morphogenesis organic substance metabolic process response to fibroblast growth factor cellular component organization or biogenesis regulation of cell proliferation in bone marrow positive regulation of cell proliferation in bone marrow regulation of apoptotic process in bone marrow cell negative regulation of apoptotic process in bone marrow cell renal system development kidney epithelium development mesonephric epithelium development mesonephric tubule development epithelial tube formation circulatory system development regulation of primary metabolic process positive regulation of canonical wnt signaling pathway sensory organ morphogenesis response to alcohol skin epidermis development bone growth biomineralization plasma membrane bounded cell projection organization plasma membrane bounded cell projection morphogenesis organonitrogen compound metabolic process response to oxygen-containing compound cellular response to oxygen-containing compound regulation of intracellular signal transduction positive regulation of intracellular signal transduction negative regulation of rna biosynthetic process positive regulation of rna biosynthetic process regulation of nucleic acid-templated transcription negative regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription cranial skeletal system development regulation of multicellular organismal development regulation of epithelial cell proliferation involved in lung morphogenesis regulation of rna biosynthetic process nucleotide binding catalytic activity protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity transmembrane signaling receptor activity fibroblast growth factor receptor activity binding protein binding atp binding glycosaminoglycan binding heparin binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding fibroblast growth factor binding transmembrane receptor protein kinase activity growth factor binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding signaling receptor activity identical protein binding protein homodimerization activity ion binding anion binding protein dimerization activity molecular transducer activity organic cyclic compound binding carbohydrate derivative binding catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding sulfur compound binding extracellular region intracellular anatomical structure nucleus cytoplasm golgi apparatus plasma membrane integral component of plasma membrane cell cortex cell surface endomembrane system membrane integral component of membrane cell junction intrinsic component of membrane intrinsic component of plasma membrane cytoplasmic vesicle vesicle protein-containing complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle receptor complex synapse excitatory synapse cell periphery intracellular vesicle cellular anatomical entity mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and tyrosine-protein kinase, catalytic domain mixed, incl. constitutive signaling by aberrant pi3k in cancer, and fceri mediated ca+2 mobilization constitutive signaling by aberrant pi3k in cancer, and vegf ligand-receptor interactions constitutive signaling by aberrant pi3k in cancer, and vegf ligand-receptor interactions mixed, incl. fgfr2 ligand binding and activation, and pdgf/vegf domain activated point mutants of fgfr2, and fibroblast growth factor receptor activity fgfr4 ligand binding and activation, and ladd syndrome fgfr4 ligand binding and activation, and muenke syndrome fgfr3b ligand binding and activation egfr tyrosine kinase inhibitor resistance mapk signaling pathway ras signaling pathway rap1 signaling pathway endocytosis pi3k-akt signaling pathway signaling pathways regulating pluripotency of stem cells regulation of actin cytoskeleton pathways in cancer prostate cancer gastric cancer central carbon metabolism in cancer pi3k cascade irs-mediated signalling signaling by fgfr in disease pip3 activates akt signaling signal transduction disease fgfr2 mutant receptor activation signaling by fgfr fgfr2 ligand binding and activation fgfr2c ligand binding and activation fgfr2b ligand binding and activation negative regulation of the pi3k/akt network signaling by fgfr2 amplification mutants activated point mutants of fgfr2 pi3k/akt signaling in cancer constitutive signaling by aberrant pi3k in cancer signaling by type 1 insulin-like growth factor 1 receptor (igf1r) igf1r signaling cascade irs-related events triggered by igf1r phospholipase c-mediated cascade; fgfr2 pi-3k cascade:fgfr2 downstream signaling of activated fgfr2 shc-mediated cascade:fgfr2 frs-mediated fgfr2 signaling negative regulation of fgfr2 signaling signaling by fgfr2 signaling by fgfr2 in disease diseases of signal transduction by growth factor receptors and second messengers raf/map kinase cascade mapk family signaling cascades mapk1/mapk3 signaling pi5p, pp2a and ier3 regulate pi3k/akt signaling insulin receptor signalling cascade signaling by insulin receptor signaling by fgfr2 iiia tm signaling by fgfr2 fusions intracellular signaling by second messengers signaling by receptor tyrosine kinases angiogenesis micrornas in cardiomyocyte hypertrophy neural crest differentiation glioblastoma signaling pathways cardiac hypertrophic response hair follicle development: organogenesis - part 2 of 3 ectoderm differentiation mapk signaling pathway bmp signaling in eyelid development embryonic stem cell pluripotency pathways focal adhesion: pi3k-akt-mtor-signaling pathway endometrial cancer pi3k-akt signaling pathway ras signaling hippo signaling regulation pathways hippo-merlin signaling dysregulation 22q11.2 copy number variation syndrome head and neck squamous cell carcinoma osteoblast differentiation and related diseases fgf23 signaling in hypophosphatemic rickets and related disorders egfr tyrosine kinase inhibitor resistance genes controlling nephrogenesis mammalian disorder of sexual development map3k1 role in promoting and blocking gonadal determination development of ureteric collection system burn wound healing malignant pleural mesothelioma regulation of actin cytoskeleton monogenic disease ladd syndrome antley-bixler syndrome beare-stevenson cutis gyrata syndrome organ system cancer cell type cancer autosomal dominant disease autosomal recessive disease autosomal genetic disease thoracic disease muenke syndrome bone disease bone development disease hepatobiliary system cancer epidermal nevus jackson-weiss syndrome prostate cancer synostosis acrocephalosyndactylia thanatophoric dysplasia disease of cellular proliferation pfeiffer syndrome saethre-chotzen syndrome reproductive system disease integumentary system disease breast cancer cancer musculoskeletal system disease reproductive organ cancer dysostosis syndrome osteochondrodysplasia crouzon syndrome craniosynostosis adenocarcinoma carcinoma hepatobiliary disease gastrointestinal system cancer breast disease skin disease male reproductive organ cancer disease bile duct disease bile duct cancer biliary tract cancer prostate disease male reproductive system disease bile duct adenocarcinoma bile duct carcinoma intrahepatic cholangiocarcinoma cholangiocarcinoma thoracic cancer genetic disease connective tissue disease disease of anatomical entity gastrointestinal system disease exophthalmos biliary tract disease tissues, cell types and enzyme sources animal reproductive system female reproductive system blood brain brain stem breast embryonic structure sense organ central nervous system cerebellum female reproductive gland head organism form cornea digestive gland embryo excretory gland eye fetus gastric cancer cell gland hematopoietic system hindbrain metencephalon liver gastric cancer cell line mammary gland placenta gastric cell line kato-iii cell thorax nervous system endocrine gland whole body viscus trunk urogenital system internal female genital organ embryonic brain snu-16 cell extracellular region intracellular nucleus cytoplasm golgi apparatus plasma membrane integral component of plasma membrane cell cortex cell surface endomembrane system membrane integral component of membrane cell junction intrinsic component of membrane intrinsic component of plasma membrane organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle synapse excitatory synapse cell periphery cellular anatomical entity adenocarcinoma breast carcinoma carcinoma disease endometrioid carcinoma reproductive system disease neoplasm ovarian carcinoma endocrine system disease sign or symptom breast neoplasm ovarian neoplasm cardiovascular measurement anthropometric measurement heart function measurement body weights and measures electrocardiography waist-hip ratio pr interval serum gamma-glutamyl transferase measurement liver enzyme measurement prostate specific antigen measurement protein measurement magnesium measurement cancer biomarker measurement cardiovascular disease biomarker measurement estrogen receptor status ovarian disease epithelial neoplasm bmi-adjusted waist-hip ratio body ratio measurement susceptibility to childhood ear infection measurement lower urinary tract symptom susceptibility to infectious disease measurement brcax breast cancer breast disease female reproductive system disease progesterone-receptor negative breast cancer integumentary system disease reproductive system neoplasm breast carcinoma by gene expression profile genital neoplasm, female ovarian endometrioid carcinoma ovarian serous carcinoma abnormality of body height abnormal morphology of female internal genitalia functional abnormality of the bladder abnormality of the bladder cryptorchidism abnormality of male external genitalia abnormal testis morphology abnormal penis morphology abnormality of the scrotum hypospadias bifid scrotum abnormality of female external genitalia abnormality of the clitoris abnormal labia morphology hypoplastic labia majora fused labia minora labial hypoplasia abnormality of the ureter vesicoureteral reflux abnormality of the kidney abnormality of the genital system abnormality of the urinary system horseshoe kidney renal hypoplasia renal agenesis phenotypic abnormality abnormality of the genitourinary system hydronephrosis abnormality of the uterus abnormality of the ovary abnormal vagina morphology vaginal atresia abnormality of head or neck abnormality of the mouth abnormal lip morphology narrow mouth abnormal oral cavity morphology abnormality of the dentition abnormality of the gingiva abnormal uvula morphology abnormal palate morphology cleft palate abnormal upper lip morphology cleft soft palate narrow palate bifid uvula open mouth abnormal parotid gland morphology absence of stensen duct oral cleft gingival overgrowth xerostomia high palate abnormality of the head abnormality of the fontanelles or cranial sutures abnormality of the anterior fontanelle hydrocephalus large fontanelles abnormality of skull size trigonocephaly brachyturricephaly brachycephaly macrocephaly wide anterior fontanel turricephaly oxycephaly dolichocephaly delayed cranial suture closure abnormality of the face malar flattening abnormal mandible morphology epicanthus abnormality of the philtrum abnormality of the forehead low anterior hairline mandibular prognathia abnormality of the chin abnormal midface morphology abnormality of the orbital region hypertelorism short philtrum facial asymmetry abnormality of the maxilla hypoplasia of the maxilla broad forehead long philtrum micrognathia high forehead abnormality of the outer ear abnormal location of ears posteriorly rotated ears abnormality of the inner ear abnormal earlobe morphology hearing abnormality hearing impairment abnormality of the nose low-set, posteriorly rotated ears low-set ears abnormality of the middle ear abnormality of the auditory canal abnormal pinna morphology cupped ear abnormal periauricular region morphology otitis media chronic otitis media thickened helices overfolded helix macrotia stenosis of the external auditory canal conductive hearing impairment sensorineural hearing impairment mixed hearing impairment atresia of the external auditory canal abnormality of the choanae abnormal nasal bridge morphology prominent nasal bridge abnormal morphology of the nasal alae wide nasal bridge convex nasal ridge choanal stenosis choanal atresia anosmia narrow nose anteverted nares abnormality of the neck short neck abnormality of the eye abnormal retinal morphology abnormal cornea morphology megalocornea strabismus keratitis abnormal eyelid morphology downslanted palpebral fissures recurrent corneal erosions abnormality of eye movement glaucoma abnormal conjunctiva morphology abnormality of vision visual impairment telecanthus ptosis conjunctivitis proptosis alacrima abnormality iris morphology abnormal conjugate eye movement abnormal uvea morphology retinal dystrophy buphthalmos visual loss exotropia nasolacrimal duct obstruction upslanted palpebral fissure shallow orbits abnormality of the optic nerve coloboma abnormality of the ear abnormality of the frontal hairline abnormality of the pharynx hypotelorism abnormality of the periorbital region iris coloboma abnormal nasolacrimal system morphology dacryocystitis periorbital fullness lacrimation abnormality decreased lacrimation blepharospasm amblyopia optic atrophy nyctalopia hypodontia carious teeth abnormality of the incisor dental crowding delayed eruption of primary teeth abnormal dental enamel morphology delayed eruption of teeth hypoplasia of teeth dental malocclusion microdontia tooth malposition natal tooth conical tooth abnormality of the nervous system behavioral abnormality abnormal thorax morphology abnormality of the breast abnormal rib morphology narrow chest abnormality of the urethra abnormal external genitalia abnormal internal genitalia bicornuate uterus hypertension abnormal clavicle morphology short clavicles abnormality of the skeletal system abnormality of the vertebral column abnormal skull morphology abnormal posterior cranial fossa morphology osteopenia abnormal diaphysis morphology abnormality of the skin single transverse palmar crease acanthosis nigricans hyperkeratosis palmoplantar hyperkeratosis cutis laxa hyperextensible skin palmoplantar keratoderma melanocytic nevus abnormality of skin pigmentation hirsutism hypopigmentation of the skin abnormal palmar dermatoglyphics hemangioma hypopigmented skin patches acne thickened skin developmental glaucoma abnormally large globe absent lacrimal punctum keratoconjunctivitis keratoconjunctivitis sicca abnormal fundus morphology abnormality of corneal size abnormality of the hand brachydactyly syndactyly hand polydactyly postaxial hand polydactyly arachnodactyly abnormality of finger abnormal thumb morphology preaxial hand polydactyly abnormal carpal morphology triphalangeal thumb interphalangeal joint contracture of finger abnormality of the thenar eminence abnormal fingernail morphology 2-3 finger syndactyly slender finger small thenar eminence intellectual disability seizure intellectual disability, mild global developmental delay abnormal corpus callosum morphology agenesis of corpus callosum abnormal cerebellum morphology cerebellar hypoplasia absent septum pellucidum dystonia megalencephaly plagiocephaly craniosynostosis abnormal joint morphology arthritis flexion contracture limitation of joint mobility limited elbow extension abnormal hip joint morphology hip dysplasia joint stiffness abnormality of the liver abnormality of the musculature of the hand hepatosplenomegaly abnormal abdomen morphology abnormality of the musculature of the upper limbs abnormality of the upper arm subcutaneous nodule broad finger growth abnormality growth delay umbilical hernia anteriorly placed anus abnormal rib cage morphology abnormal umbilicus morphology abnormality of the integument redundant skin bell-shaped thorax abnormal hair morphology abnormality of the nail abnormality of the larynx laryngomalacia abnormality of the cardiovascular system abnormal heart morphology ventricular septal defect atrial septal defect patent ductus arteriosus abnormal cardiac septum morphology abnormal aortic morphology abnormal cardiac ventricle morphology abnormality of the pancreas abnormal nasopharynx morphology abnormality of the spleen splenomegaly abnormal foot morphology toe syndactyly short foot abnormality of toe broad metatarsal small nail hypoplastic fingernail hallux valgus genital tract atresia foot polydactyly short toe abnormal metatarsal morphology broad toe rocker bottom foot split foot preaxial foot polydactyly abnormality of the hallux abnormality of the tarsal bones abnormality of blood and blood-forming tissues talipes abnormality of metabolism/homeostasis aplasia/hypoplasia of metatarsal bones abnormal scalp morphology extramedullary hematopoiesis aplasia/hypoplasia of toe abnormal facial shape frontal bossing morphological central nervous system abnormality abnormality of the abdominal organs dysphagia pyloric stenosis anal atresia abnormal esophagus morphology esophageal atresia abnormal cerebral morphology migraine abnormality of the respiratory system abnormality of the upper respiratory tract respiratory insufficiency dyspnea respiratory distress apnea abnormal cerebral ventricle morphology ventriculomegaly nail dysplasia hepatomegaly abnormal intestine morphology chiari malformation headache intellectual disability, moderate sleep disturbance aqueductal stenosis cerebellar malformation abnormal cerebral white matter morphology increased intracranial pressure intestinal malrotation abnormal stomach morphology gastrointestinal atresia abnormality of the vasculature overriding aorta abnormal pelvic girdle bone morphology scoliosis increased susceptibility to fractures neoplasm cloverleaf skull skull asymmetry abnormal calvaria morphology hypoplastic facial bones abnormality of the skull base abnormal parietal bone morphology parietal foramina abnormality of skull ossification abnormality of the immune system recurrent fractures abnormal cartilage morphology abnormal tracheal morphology tracheomalacia bronchomalacia upper airway obstruction abnormal pattern of respiration abnormal respiratory system physiology abnormality of limb bone morphology abnormality of the lower limb abnormality of the upper limb abnormal morphology of the radius abnormality of femur morphology abnormal cerebrospinal fluid morphology vertebral fusion fused cervical vertebrae abnormal forearm morphology radioulnar synostosis aplasia/hypoplasia involving the central nervous system bowing of the legs femoral bowing abnormality of the calf micromelia hypoplasia of the radius abnormality of fibula morphology limited elbow movement breast carcinoma abnormality of the musculature abnormality of the wrist hypoplasia of the ulna short long bone ulnar bowing humeroradial synostosis abnormality of the humerus elbow ankylosis abnormality of urine homeostasis limb joint contracture abnormal acetabulum morphology abnormality of the pubic bone abnormality of the ischium hypoplastic ischia long nose short nose external genital hypoplasia prominent scrotal raphe visceromegaly abnormal hip bone morphology narrow pelvis bone hyperlordosis abnormal form of the vertebral bodies abnormality of the cervical spine abnormal bone structure abnormal enchondral ossification vertebral segmentation defect abnormal vertebral morphology abnormality of connective tissue nevus short middle phalanx of toe synostosis involving the elbow absent forearm bone bowed forearm bones absent radius deviation of finger abnormal 2nd finger morphology abnormal 3rd finger morphology abnormal 5th finger morphology clinodactyly of the 5th finger duplication of hand bones synostosis involving bones of the hand short palm abnormality of the abdominal wall hernia of the abdominal wall short stature abnormal anterior eye segment morphology abnormal posterior eye segment morphology decreased skull ossification abnormality of bone mineral density reduced bone mineral density focal dystonia abnormality of the anus ectopic anus abnormality of the pylorus abnormality of the sense of smell flat forehead abnormal cheek morphology craniofacial dysostosis coronal craniosynostosis sagittal craniosynostosis lambdoidal craniosynostosis preauricular skin furrow overfolding of the superior helices anomalous tracheal cartilage acrobrachycephaly cervical c5/c6 vertebrae fusion 2-3 toe syndactyly proximal radio-ulnar synostosis synostosis of carpal bones abnormal nasal morphology abnormal sacrum morphology abnormal cardiac atrium morphology thoracic hypoplasia abnormality of the synovia depressed nasal bridge abnormal nostril morphology tracheal cartilaginous sleeve hypoplasia of the epiglottis decreased calvarial ossification abnormal epiglottis morphology abnormality of the metopic suture abnormal tracheobronchial morphology broad long bones positional foot deformity bilateral triphalangeal thumbs short middle phalanx of finger abnormal finger phalanx morphology abnormal hand morphology aplasia/hypoplasia involving bones of the hand redundant neck skin broad phalanx finger syndactyly shortening of all middle phalanges of the fingers mesoaxial hand polydactyly abnormal phalangeal joint morphology of the hand aplasia/hypoplasia of fingers advanced eruption of teeth abnormality of dental eruption enamel hypoplasia abnormality of primary teeth abnormality of dental morphology abnormal number of teeth bowing of the long bones bowing of the arm aplasia/hypoplasia involving bones of the lower limbs aplasia/hypoplasia involving bones of the feet aplasia/hypoplasia of the ulna aplasia/hypoplasia involving bones of the upper limbs aplasia/hypoplasia of the radius aplasia/hypoplasia involving forearm bones airway obstruction aplasia/hypoplasia of the clavicles aplasia/hypoplasia involving bones of the thorax neoplasm of the stomach chiari type i malformation posterior fossa cyst abnormal morphology of the limbic system aplasia/hypoplasia of the cerebellum aplasia/hypoplasia of the cerebrum aplasia/hypoplasia of the corpus callosum abnormal septum pellucidum morphology neoplasm of the gastrointestinal tract neoplasm of the genitourinary tract excessive wrinkled skin hemangiomatosis palmoplantar cutis gyrata abnormal dermatoglyphics prematurely aged appearance palmoplantar cutis laxa plantar hyperkeratosis bilateral single transverse palmar creases excessive wrinkling of palmar skin congenital stationary night blindness lacrimal gland aplasia reduced visual acuity ocular anterior segment dysgenesis lacrimal gland hypoplasia hypoplasia of the lacrimal punctum hypoplastic lacrimal duct lacrimal duct aplasia aplastic/hypoplastic lacrimal glands abnormality of the vasculature of the eye abnormality of the palpebral fissures abnormally lax or hyperextensible skin hallux varus broad distal hallux calcaneonavicular fusion aplasia/hypoplasia of the hallux abnormal talus morphology tarsal synostosis aplasia/hypoplasia of the nails abnormally folded helix microtia external ear malformation clitoral hypertrophy renal hypoplasia/aplasia coronal hypospadias aplasia/hypoplasia of the ear aplasia/hypoplasia of the external ear feeding difficulties in infancy abnormal ossification of the pubic bone abnormal pelvis bone ossification aplasia/hypoplasia involving the skeleton aplasia/hypoplasia involving bones of the skull aplasia/hypoplasia of the mandible abnormal axial skeleton morphology aplasia/hypoplasia affecting bones of the axial skeleton abnormality of the musculature of the limbs duplication involving bones of the feet synostosis involving bones of the lower limbs synostosis involving bones of the feet duplication of bones involving the upper extremities deviation of the 5th finger abnormal 3rd finger phalanx morphology deviation of the 3rd finger abnormality of the distal phalanx of the 3rd finger aplasia of the fingers short finger radial deviation of the 3rd finger radial deviation of finger joint contracture of the hand deviation of the hand or of fingers of the hand radial deviation of the hand or of fingers of the hand abnormality of the phalanges of the 2nd finger abnormality of the distal phalanx of the 2nd finger abnormality of the hairline aplasia/hypoplasia of the thumb abnormality of thumb phalanx deviation of the thumb abnormality of the distal phalanx of the thumb abnormality of the proximal phalanx of the thumb aplasia/hypoplasia of the proximal phalanx of the thumb absent proximal phalanx of thumb broad distal phalanx of the thumb aplasia/hypoplasia of the phalanges of the thumb partial absence of thumb carpal synostosis abnormal antihelix morphology aplasia of the parotid gland nephrosclerosis aplasia/hypoplasia of the phalanges of the hand broad phalanges of the hand symphalangism affecting the phalanges of the hand absent thumb short thumb aplasia of the phalanges of the hand short phalanx of finger tooth agenesis abnormality of upper limb joint abnormality of the elbow aplasia/hypoplasia of the extremities forearm undergrowth aplasia involving forearm bones aplasia involving bones of the upper limbs upper limb undergrowth aplasia involving bones of the extremities limb undergrowth abnormal distal phalanx morphology of finger abnormal middle phalanx morphology of the hand broad distal phalanx of finger aplasia/hypoplasia of the middle phalanges of the hand duplication of the distal phalanx of hand underdeveloped supraorbital ridges abnormality of the crus of the helix prominent crus of helix aplasia/hypoplasia of the earlobes epiphora duplication of thumb phalanx partial duplication of thumb phalanx duplication of phalanx of 2nd finger polydactyly affecting the 2nd finger duplication of the distal phalanx of the 2nd finger partial duplication of the distal phalanx of the 2nd finger partial duplication of the phalanges of the 2nd finger polydactyly affecting the 3rd finger duplication of phalanx of 3rd finger partial duplication of the phalanges of the 3rd finger duplication of the distal phalanx of the 3rd finger partial duplication of the distal phalanx of the 3rd finger duplication of phalanx of hand partial duplication of the phalanx of hand partial duplication of the distal phalanges of the hand deviation of the hallux abnormality of the first metatarsal bone broad hallux abnormal hallux phalanx morphology broad hallux phalanx aplasia/hypoplasia of the 1st metatarsal absent first metatarsal short hallux abnormality of the phalanges of the toes broad phalanx of the toes abnormality of the middle phalanges of the toes aplasia of the middle phalanx of the hand abnormal salivary gland morphology abnormal ventricular septum morphology polydactyly steep acetabular roof abnormality of the female genitalia abnormality of the male genitalia abnormality of the palmar creases sleep apnea cutis gyrata of scalp cutaneous finger syndactyly aplasia/hypoplasia of the epiglottis intracranial cystic lesion skin tags abnormal elasticity of skin abnormal meningeal morphology abnormal zygomatic bone morphology hypoplasia of the zygomatic bone abnormality of the curvature of the vertebral column abnormal hair pattern short metatarsal absent metatarsal bone absent toe palmar hyperkeratosis gonadal neoplasm genital neoplasm open bite abdominal wall defect abnormality of the upper urinary tract abnormality of the lower urinary tract abnormal external nose morphology abnormal renal pelvis morphology dilatation of the renal pelvis abnormality of immune system physiology abnormal cerebral subcortex morphology abnormal systemic arterial morphology abnormality of the gastrointestinal tract abnormal cardiovascular system physiology abnormal helix morphology abnormality of dental structure abnormal incisor morphology conical incisor abnormal nasal dorsum morphology abnormality of skin morphology abnormality of skin physiology inflammatory abnormality of the skin abnormality of skin adnexa morphology abnormal shape of the frontal region metopic depression abnormality of the urinary system physiology abnormal hindbrain morphology abnormal metencephalon morphology abnormal digit morphology broad thumb abnormal long bone morphology bicoronal synostosis cleft of chin multiple suture craniosynostosis abnormality of fontanelles abnormality of cranial sutures abnormality of mouth size abnormality of mouth shape generalized abnormality of skin localized skin lesion regional abnormality of skin congenital abnormal hair pattern abnormal hair quantity epidermal thickening morphological abnormality of the vestibule of the inner ear morphological abnormality of the semicircular canal abnormality of the internal auditory canal narrow internal auditory canal functional abnormality of the inner ear morphological abnormality of the inner ear abnormality of higher mental function functional abnormality of the middle ear abdominal symptom abnormal lacrimal punctum morphology abnormal lacrimal duct morphology abnormal lacrimal gland morphology abnormality of corneal thickness increased corneal thickness abnormal corneal epithelium morphology corneal neovascularization congenital malformation of the great arteries abnormality of joint mobility neoplasm by anatomical site midface retrusion abnormal skeletal muscle morphology abnormal facial skeleton morphology abnormal oral mucosa morphology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology abnormal bone ossification short digit feeding difficulties abnormal atrial septum morphology open angle glaucoma stomach cancer decreased corneal sensation craniofacial dystonia abnormal renal morphology abnormal reproductive system morphology abnormal respiratory system morphology flat face abnormal eye morphology abnormal eye physiology camptodactyly abnormality of brain morphology abnormal nervous system physiology abnormal nervous system morphology abnormality of intracranial pressure abnormal inflammatory response increased inflammatory response morphological abnormality of the gastrointestinal tract functional abnormality of the gastrointestinal tract cutaneous syndactyly anorectal anomaly neurodevelopmental delay neurodevelopmental abnormality flexion contracture of finger abnormal optic disc morphology corneal ulceration hypoplastic female external genitalia abnormal labia minora morphology abnormal labia majora morphology exodeviation abnormal vascular morphology abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology abnormal esophagus physiology red eye abnormal spleen morphology abnormal larynx morphology abnormal bronchus morphology abnormal ureter physiology abnormal neck morphology incomplete ossification of pubis flexion contracture of digit clinodactyly abnormal ocular adnexa morphology abnormality of cardiovascular system morphology central nervous system cyst abnormal jaw morphology abnormal morphology of the great vessels abnormal systemic blood pressure ankylosis abnormal breast morphology abnormal uterus morphology abnormal ear morphology abnormal ear physiology abnormal oral physiology abnormal oral morphology abnormal eyelid physiology abnormal urine carbohydrate level heterotropia abnormality of the ocular adnexa abnormal ocular adnexa physiology abnormal male urethral meatus morphology limbal stem cell deficiency increased blood pressure abnormality of the musculoskeletal system abnormal pharynx morphology abnormal blood vessel morphology abnormal urine metabolite level thin corpus callosum aplasia/hypoplasia of facial bones joint contracture abnormal joint physiology finger clinodactyly abnormality of limbs abnormality of limb bone abnormal lower limb bone morphology abnormal upper limb bone morphology abnormal morphology of ulna abnormal forearm bone morphology abnormal pelvis bone morphology obsolete abnormality of the periosteum increased head circumference abnormal skin morphology of the palm abnormal size of the clitoris increased size of the clitoris aplasia/hypoplasia involving bones of the extremities neoplasm of the breast abnormality of movement abnormality of the scalp hair synostosis involving bones of the upper limbs synostosis of joints ectrodactyly preaxial polydactyly postaxial polydactyly mesoaxial polydactyly abnormal tendon morphology synostosis of carpals/tarsals upper-limb joint contracture camptodactyly of finger abnormality of lower limb joint deviation of toes inflammatory abnormality of the eye abnormality of the supraorbital ridges abnormal localization of kidney cognitive impairment abnormal forebrain morphology corneal perforation ovarian neoplasm germinoma dysgerminoma displacement of the urethral meatus premature skin wrinkling abnormal arachnoid mater morphology arachnoid cyst germ cell neoplasia abnormal soft palate morphology vascular neoplasm abnormality of the humeroradial joint abnormality of salivation visceral angiomatosis abnormality of the lymphatic system hernia long fingers abnormal palm morphology abnormality of the plantar skin of foot abnormality of globe location abnormality of globe size slanting of the palpebral fissure corneal erosion skin nodule small hand abnormal liver morphology increased level of l-fucose in urine abnormal frontal bone morphology abnormality of cartilage of external ear abnormal morphology of bony orbit of skull abnormal odontoid tissue morphology reproductive system cancer ovarian epithelial tumor gonadal disorder thoracic cancer cancer breast cancer ovarian cancer malignant epithelial tumor of ovary female reproductive system neoplasm neoplasm of thorax neoplastic disease or syndrome glandular cell neoplasm cancer or benign tumor alternative splicing ectodermal dysplasia apoptosis atp-binding glycoprotein golgi apparatus heparin-binding immunoglobulin domain kinase membrane nucleotide-binding phosphoprotein proto-oncogene receptor repeat signal transferase transmembrane tyrosine-protein kinase ubl conjugation lacrimo-auriculo-dento-digital syndrome secreted cytoplasmic vesicle craniosynostosis cell membrane disulfide bond transmembrane helix protein kinase domain serine-threonine/tyrosine-protein kinase, catalytic domain immunoglobulin subtype 2 immunoglobulin subtype immunoglobulin-like domain tyrosine-protein kinase, active site protein kinase-like domain superfamily immunoglobulin i-set immunoglobulin-like fold fibroblast growth factor receptor family protein kinase, atp binding site tyrosine-protein kinase, catalytic domain immunoglobulin-like domain superfamily tyrosine kinase, catalytic domain immunoglobulin c-2 type mapk cascade skeletal system development ossification regulation of protein phosphorylation positive regulation of protein phosphorylation endochondral ossification chondrocyte differentiation endochondral bone growth protein phosphorylation phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process apoptotic process cell communication signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway cell-cell signaling multicellular organism development metabolic process cell death cell population proliferation positive regulation of cell population proliferation fibroblast growth factor receptor signaling pathway anatomical structure morphogenesis response to endogenous stimulus animal organ morphogenesis tissue development positive regulation of metabolic process regulation of signal transduction positive regulation of signal transduction cellular process response to organic substance regulation of phospholipase activity positive regulation of phospholipase activity positive regulation of phosphorus metabolic process positive regulation of macromolecule metabolic process regulation of cell communication positive regulation of cell communication programmed cell death phosphorylation peptidyl-tyrosine phosphorylation peptidyl-amino acid modification peptidyl-tyrosine modification regulation of lipid metabolic process regulation of phosphate metabolic process regulation of metabolic process protein metabolic process developmental maturation regulation of signaling signaling positive regulation of signaling cell differentiation bone mineralization biomineral tissue development regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of protein modification process positive regulation of protein modification process multicellular organismal process developmental process positive regulation of kinase activity organ growth intracellular signal transduction chondrocyte proliferation replacement ossification protein modification process growth regulation of growth regulation of cell population proliferation response to chemical regulation of phosphorylation positive regulation of phosphorylation regulation of tyrosine phosphorylation of stat protein positive regulation of tyrosine phosphorylation of stat protein positive regulation of catalytic activity macromolecule metabolic process regulation of mapk cascade positive regulation of mapk cascade macromolecule modification regulation of kinase activity regulation of lipid kinase activity regulation of phosphatidylinositol 3-kinase activity positive regulation of phosphatidylinositol 3-kinase activity positive regulation of molecular function cellular metabolic process primary metabolic process cellular response to fibroblast growth factor stimulus positive regulation of lipid metabolic process negative regulation of growth positive regulation of phosphate metabolic process protein autophosphorylation animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process regulation of response to stimulus positive regulation of response to stimulus developmental growth regulation of developmental growth negative regulation of developmental growth skeletal system morphogenesis system development animal organ maturation anatomical structure development cellular developmental process regulation of peptidyl-tyrosine phosphorylation positive regulation of peptidyl-tyrosine phosphorylation regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process response to stimulus negative regulation of developmental process regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process cartilage development regulation of protein metabolic process positive regulation of protein metabolic process regulation of hydrolase activity regulation of transferase activity positive regulation of hydrolase activity positive regulation of transferase activity cellular response to stimulus regulation of lipase activity positive regulation of lipase activity regulation of macromolecule metabolic process bone development bone morphogenesis endochondral bone morphogenesis connective tissue development biological regulation regulation of molecular function regulation of erk1 and erk2 cascade positive regulation of erk1 and erk2 cascade response to growth factor cellular response to chemical stimulus bone maturation cellular response to organic substance cellular response to growth factor stimulus cellular response to endogenous stimulus anatomical structure maturation organic substance metabolic process response to fibroblast growth factor regulation of primary metabolic process positive regulation of lipid kinase activity apoptotic signaling pathway extrinsic apoptotic signaling pathway bone growth biomineralization organonitrogen compound metabolic process fibroblast growth factor receptor apoptotic signaling pathway regulation of intracellular signal transduction positive regulation of intracellular signal transduction nucleotide binding catalytic activity protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity transmembrane signaling receptor activity fibroblast growth factor receptor activity binding protein binding atp binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding fibroblast growth factor binding transmembrane receptor protein kinase activity growth factor binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding signaling receptor activity identical protein binding ion binding anion binding molecular transducer activity organic cyclic compound binding carbohydrate derivative binding catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding extracellular region intracellular anatomical structure nucleus cytoplasm endoplasmic reticulum golgi apparatus plasma membrane integral component of plasma membrane cell surface endomembrane system membrane integral component of membrane transport vesicle intrinsic component of membrane intrinsic component of plasma membrane cytoplasmic vesicle vesicle protein-containing complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle receptor complex cell periphery intracellular vesicle cellular anatomical entity mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and tyrosine-protein kinase, catalytic domain mixed, incl. constitutive signaling by aberrant pi3k in cancer, and fceri mediated ca+2 mobilization constitutive signaling by aberrant pi3k in cancer, and vegf ligand-receptor interactions constitutive signaling by aberrant pi3k in cancer, and vegf ligand-receptor interactions mixed, incl. fgfr2 ligand binding and activation, and pdgf/vegf domain activated point mutants of fgfr2, and fibroblast growth factor receptor activity fgfr4 ligand binding and activation, and ladd syndrome fgfr4 ligand binding and activation, and muenke syndrome fgfr3b ligand binding and activation egfr tyrosine kinase inhibitor resistance mapk signaling pathway ras signaling pathway rap1 signaling pathway endocytosis pi3k-akt signaling pathway signaling pathways regulating pluripotency of stem cells regulation of actin cytoskeleton pathways in cancer micrornas in cancer bladder cancer central carbon metabolism in cancer pi3k cascade irs-mediated signalling signaling by fgfr in disease pip3 activates akt signaling signal transduction disease signaling by activated point mutants of fgfr3 signaling by fgfr fgfr3 ligand binding and activation fgfr3b ligand binding and activation fgfr3c ligand binding and activation negative regulation of the pi3k/akt network fgfr3 mutant receptor activation t(4;14) translocations of fgfr3 pi3k/akt signaling in cancer constitutive signaling by aberrant pi3k in cancer signaling by type 1 insulin-like growth factor 1 receptor (igf1r) igf1r signaling cascade irs-related events triggered by igf1r phospholipase c-mediated cascade; fgfr3 shc-mediated cascade:fgfr3 frs-mediated fgfr3 signaling downstream signaling of activated fgfr3 pi-3k cascade:fgfr3 negative regulation of fgfr3 signaling signaling by fgfr3 signaling by fgfr3 in disease diseases of signal transduction by growth factor receptors and second messengers raf/map kinase cascade mapk family signaling cascades mapk1/mapk3 signaling pi5p, pp2a and ier3 regulate pi3k/akt signaling insulin receptor signalling cascade signaling by insulin receptor signaling by fgfr3 fusions in cancer intracellular signaling by second messengers signaling by receptor tyrosine kinases neural crest differentiation bladder cancer notch1 regulation of endothelial cell calcification mapk signaling pathway embryonic stem cell pluripotency pathways focal adhesion: pi3k-akt-mtor-signaling pathway endometrial cancer pi3k-akt signaling pathway ras signaling hippo signaling regulation pathways hippo-merlin signaling dysregulation head and neck squamous cell carcinoma endochondral ossification fgfr3 signaling in chondrocyte proliferation and terminal differentiation osteoblast differentiation and related diseases fgf23 signaling in hypophosphatemic rickets and related disorders egfr tyrosine kinase inhibitor resistance endochondral ossification with skeletal dysplasias burn wound healing malignant pleural mesothelioma regulation of actin cytoskeleton monogenic disease ladd syndrome organ system cancer cell type cancer autosomal dominant disease autosomal genetic disease benign neoplasm cell type benign neoplasm organ system benign neoplasm muenke syndrome myeloid neoplasm bone disease bone development disease hypochondroplasia saddan camptodactyly-tall stature-scoliosis-hearing loss syndrome crouzon syndrome-acanthosis nigricans syndrome epidermal nevus pigmentation disease urinary bladder cancer synostosis acrocephalosyndactylia thanatophoric dysplasia disease of cellular proliferation pfeiffer syndrome integumentary system disease cancer musculoskeletal system disease urinary system disease dysostosis syndrome osteochondrodysplasia crouzon syndrome craniosynostosis hematologic cancer papilloma transitional cell carcinoma carcinoma acanthosis nigricans bladder disease skin disease urinary system cancer disease bladder carcinoma achondroplasia bone marrow cancer bone marrow disease bladder papillary transitional cell neoplasm urinary tract papillary transitional cell benign neoplasm non-invasive bladder papillary urothelial neoplasm genetic disease connective tissue disease bladder transitional cell papilloma disease of anatomical entity urinary system benign neoplasm hematopoietic system disease leukocyte disease multiple myeloma tissues, cell types and enzyme sources animal bone brain central nervous system head carcinoma cell line epidermis epithelium connective tissue stratum spinosum bone marrow cancer cell colonic cancer cell integument keratinocyte epithelial cell line urinary tract skin squamous cell carcinoma cell cranium epidermal cell nervous system skeletal system whole body viscus gastrointestinal cancer cell urinary bladder transitional cell carcinoma cell line transitional cell carcinoma cell line craniofacial region rt-112 cell uroepithelium foramen magnum extracellular region intracellular cytoplasm endoplasmic reticulum golgi apparatus plasma membrane integral component of plasma membrane endomembrane system membrane integral component of membrane transport vesicle intrinsic component of membrane intrinsic component of plasma membrane cytoplasmic vesicle vesicle organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle cell periphery intracellular vesicle cellular anatomical entity pulmonary function measurement anthropometric measurement body weights and measures body height waist circumference fev/fec ratio respiratory disease biomarker bmi-adjusted waist circumference abnormality of body height abnormal morphology of female internal genitalia functional abnormality of the bladder abnormality of the bladder functional abnormality of male internal genitalia azoospermia cryptorchidism abnormality of male external genitalia abnormal testis morphology abnormal penis morphology hypospadias abnormality of the ureter vesicoureteral reflux abnormality of the kidney abnormality of the genital system abnormality of the urinary system abnormality of reproductive system physiology renal hypoplasia tall stature renal agenesis phenotypic abnormality abnormality of the genitourinary system hydronephrosis abnormality of the uterus abnormality of head or neck abnormality of the mouth abnormal oral cavity morphology abnormality of the dentition abnormal uvula morphology abnormal palate morphology cleft palate cleft soft palate narrow palate bifid uvula abnormal parotid gland morphology absence of stensen duct oral cleft xerostomia high palate abnormality of the head abnormality of the fontanelles or cranial sutures abnormality of the anterior fontanelle hydrocephalus large fontanelles abnormality of skull size parietal bossing brachycephaly microcephaly macrocephaly wide anterior fontanel turricephaly abnormality of the face malar flattening small face abnormal mandible morphology abnormality of the forehead low anterior hairline abnormal midface morphology abnormality of the orbital region hypertelorism facial asymmetry abnormality of the maxilla hypoplasia of the maxilla broad forehead micrognathia high forehead abnormality of the outer ear abnormal location of ears hearing abnormality hearing impairment abnormality of the nose low-set ears abnormality of the middle ear abnormal pinna morphology cupped ear otitis media recurrent otitis media conductive hearing impairment sensorineural hearing impairment mixed hearing impairment abnormality of the choanae abnormal nasal bridge morphology abnormal morphology of the nasal alae convex nasal ridge choanal atresia anosmia anteverted nares abnormality of the neck abnormality of the eye abnormal cornea morphology strabismus keratitis abnormal eyelid morphology downslanted palpebral fissures recurrent corneal erosions abnormality of eye movement glaucoma abnormal conjunctiva morphology abnormality of vision visual impairment telecanthus ptosis conjunctivitis proptosis alacrima abnormality of refraction myopia abnormal conjugate eye movement exotropia nasolacrimal duct obstruction abnormality of the optic nerve abnormality of the ear abnormality of the frontal hairline abnormality of the periorbital region abnormal nasolacrimal system morphology dacryocystitis periorbital fullness lacrimation abnormality decreased lacrimation amblyopia optic atrophy hypodontia carious teeth abnormality of the incisor delayed eruption of primary teeth abnormal dental enamel morphology delayed eruption of teeth hypoplasia of teeth dental malocclusion microdontia tooth malposition conical tooth abnormality of the nervous system behavioral abnormality short attention span hyperactivity abnormal thorax morphology abnormal sternum morphology pectus excavatum abnormal rib morphology short ribs narrow chest abnormal scapula morphology abnormality of the urethra abnormal external genitalia abnormal internal genitalia bicornuate uterus hypoplastic scapulae abnormal clavicle morphology wide-cupped costochondral junctions abnormality of the costochondral junction abnormality of the skeletal system abnormality of the vertebral column platyspondyly abnormal skull morphology abnormal diaphysis morphology abnormal metaphysis morphology hypoplastic ilia abnormality of the skin hyperpigmentation of the skin acanthosis nigricans edema cutis laxa hyperextensible skin melanocytic nevus abnormality of skin pigmentation hypopigmentation of the skin hypermelanotic macule hypopigmented skin patches numerous nevi thickened skin absent lacrimal punctum keratoconjunctivitis keratoconjunctivitis sicca abnormal fundus morphology visual field defect abnormality of the hand brachydactyly syndactyly abnormality of the metacarpal bones arachnodactyly abnormality of finger split hand abnormal thumb morphology abnormal carpal morphology abnormalities of placenta or umbilical cord abnormality of prenatal development or birth triphalangeal thumb interphalangeal joint contracture of finger abnormality of the thenar eminence 2-3 finger syndactyly slender finger capitate-hamate fusion small thenar eminence intellectual disability seizure hypotonia global developmental delay motor delay abnormal corpus callosum morphology abnormal cerebellum morphology megalencephaly plagiocephaly holoprosencephaly craniosynostosis abnormal joint morphology arthritis flexion contracture limitation of joint mobility limited elbow extension joint hypermobility abnormal hip joint morphology joint stiffness joint laxity abnormality of the musculature of the hand abnormality of the musculature of the upper limbs broad finger growth abnormality growth delay obesity abnormal rib cage morphology prenatal movement abnormality decreased fetal movement abnormality of the amniotic fluid polyhydramnios abnormality of the integument redundant skin abnormal hair morphology abnormality of the nail abnormality of the larynx abnormality of the cardiovascular system abnormal heart morphology atrial septal defect congestive heart failure patent ductus arteriosus abnormal cardiac septum morphology abnormal foot morphology toe syndactyly short foot abnormality of toe short toe camptodactyly of toe broad toe abnormality of the hallux abnormality of the tarsal bones abnormality of metabolism/homeostasis abnormal scalp morphology aplasia/hypoplasia of toe abnormal facial shape frontal bossing morphological central nervous system abnormality dysphagia gastroesophageal reflux abnormal cerebral morphology migraine hypoplasia of the corpus callosum encephalocele abnormality of the respiratory system abnormality of the upper respiratory tract abnormal lung morphology restrictive ventilatory defect pulmonary arterial hypertension respiratory insufficiency apnea abnormal cerebral ventricle morphology ventriculomegaly nail dysplasia intellectual disability, profound generalized-onset seizure abnormal intestine morphology abnormal large intestine morphology abnormality of neuronal migration gray matter heterotopia chiari malformation headache sleep disturbance abnormal brainstem morphology cerebellar malformation abnormal cerebral white matter morphology brain stem compression increased intracranial pressure abnormal stomach morphology abnormality of the vasculature abnormal pelvic girdle bone morphology scoliosis skeletal dysplasia neoplasm gastrointestinal carcinoma cloverleaf skull small foramen magnum abnormal calvaria morphology abnormal parietal bone morphology abnormal foramen magnum morphology high, narrow palate abnormality of the immune system recurrent infections osteoarthritis generalized joint laxity upper airway obstruction abnormal pattern of respiration abnormal respiratory system physiology kyphosis abnormality of limb bone morphology abnormality of the lower limb abnormality of the knee abnormality of the upper limb abnormal morphology of the radius abnormality of femur morphology bladder carcinoma abnormal ilium morphology obstructive sleep apnea central apnea uterine leiomyosarcoma embryonal neoplasm abnormal cerebrospinal fluid morphology lumbar hyperlordosis thoracic kyphosis genu varum abnormal forearm morphology aplasia/hypoplasia involving the central nervous system bowing of the legs femoral bowing abnormality of the calf tibial bowing micromelia hypoplasia of the radius abnormality of fibula morphology abnormality of tibia morphology limited elbow movement abnormality of the musculature flared metaphysis metaphyseal widening abnormality of the wrist hypoplasia of the ulna metaphyseal irregularity short long bone mesomelia limited hip extension short femur limb joint contracture abnormal acetabulum morphology flat acetabular roof short greater sciatic notch short nasal bridge abnormal hip bone morphology hyperlordosis abnormal form of the vertebral bodies abnormality of the cervical spine abnormal femoral neck/head morphology abnormal femoral neck morphology narrow greater sciatic notch spinal canal stenosis abnormal vertebral morphology disproportionate short stature proportionate short stature severe short stature abnormality of connective tissue nevus short middle phalanx of toe abnormal muscle tone abnormality of upper limb epiphysis morphology absent forearm bone absent radius trident hand deviation of finger abnormal 3rd finger morphology abnormal 5th finger morphology clinodactyly of the 5th finger abnormality of the hamate bone abnormality of the capitate bone duplication of hand bones synostosis involving bones of the hand short palm short stature abnormality of body weight increased body weight abnormal anterior eye segment morphology abnormal posterior eye segment morphology abnormality of the sense of smell coronal craniosynostosis severe platyspondyly increased vertebral height elevated pulmonary artery pressure abnormal nasal morphology abnormal sacrum morphology abnormal cardiac atrium morphology thoracic hypoplasia abnormality of the synovia depressed nasal bridge abnormal nostril morphology hypoplasia of the epiglottis abnormal epiglottis morphology renal cell carcinoma hypopigmentation of hair aplasia/hypoplasia of the femur thoracolumbar kyphosis broad long bones joint hyperflexibility bilateral triphalangeal thumbs spinal stenosis with reduced interpedicular distance lower-limb joint contracture short middle phalanx of finger flexion contracture of toe metaphyseal chondrodysplasia abnormal metacarpal morphology abnormal finger phalanx morphology abnormal epiphysis morphology of the phalanges of the hand abnormal hand morphology abnormal hand epiphysis morphology aplasia/hypoplasia involving bones of the hand abnormal epiphysis morphology broad phalanx finger syndactyly thimble-shaped middle phalanges of hand elevated alpha-fetoprotein abnormal phalangeal joint morphology of the hand aplasia/hypoplasia of fingers abnormality of dental eruption enamel hypoplasia broad femoral metaphyses abnormality of primary teeth abnormality of dental morphology abnormal number of teeth bowing of the long bones abnormal femoral metaphysis morphology abnormal lower-limb metaphysis morphology aplasia/hypoplasia involving bones of the lower limbs aplasia/hypoplasia involving bones of the feet aplasia/hypoplasia of the ulna aplasia/hypoplasia involving bones of the upper limbs aplasia/hypoplasia of the radius aplasia/hypoplasia involving forearm bones abnormal limb epiphysis morphology airway obstruction small abnormally formed scapulae aplasia/hypoplasia of the lungs aplasia/hypoplasia involving bones of the thorax aplasia/hypoplasia of the ribs aplasia/hypoplasia of the scapulae hereditary nonpolyposis colorectal carcinoma transitional cell carcinoma of the bladder malignant gastrointestinal tract tumors neoplasm of the stomach attention deficit hyperactivity disorder aplasia/hypoplasia of the cerebellum aplasia/hypoplasia of the cerebrum atrophy/degeneration affecting the central nervous system aplasia/hypoplasia of the corpus callosum neoplasm of the gastrointestinal tract neoplasm of the genitourinary tract excessive wrinkled skin irregular hyperpigmentation prematurely aged appearance lacrimal gland aplasia reduced visual acuity lacrimal gland hypoplasia hypoplasia of the lacrimal punctum hypoplastic lacrimal duct lacrimal duct aplasia aplastic/hypoplastic lacrimal glands abnormality of the vasculature of the eye abnormality of the palpebral fissures abnormally lax or hyperextensible skin foot joint contracture tarsal synostosis lumbar kyphosis in infancy cervical spinal canal stenosis lumbar kyphosis microtia abnormal spermatogenesis renal hypoplasia/aplasia coronal hypospadias aplasia/hypoplasia of the ear aplasia/hypoplasia of the external ear limited hip movement disproportionate short-limb short stature rhizomelia lethal short-limbed short stature neonatal short-limb short stature infantile muscular hypotonia aplasia/hypoplasia involving the pelvis aplasia/hypoplasia involving the femoral head and neck aplasia/hypoplasia involving the skeleton aplasia/hypoplasia involving bones of the skull aplasia/hypoplasia of the mandible abnormal axial skeleton morphology aplasia/hypoplasia affecting bones of the axial skeleton abnormality of the musculature of the limbs synostosis involving bones of the lower limbs synostosis involving bones of the feet duplication of bones involving the upper extremities deviation of the 5th finger deviation of the 3rd finger aplasia of the fingers short finger radial deviation of the 3rd finger radial deviation of finger joint contracture of the hand deviation of the hand or of fingers of the hand radial deviation of the hand or of fingers of the hand abnormality of the hairline aplasia/hypoplasia of the thumb abnormality of thumb phalanx abnormality of the proximal phalanx of the thumb aplasia/hypoplasia of the proximal phalanx of the thumb absent proximal phalanx of thumb aplasia/hypoplasia of the phalanges of the thumb partial absence of thumb metacarpal synostosis carpal synostosis bladder neoplasm renal neoplasm aplasia of the parotid gland nephrosclerosis aplasia/hypoplasia of the phalanges of the hand broad phalanges of the hand absent thumb short thumb teratoma aplasia of the phalanges of the hand short phalanx of finger tooth agenesis abnormality of upper limb joint abnormality of the elbow aplasia/hypoplasia of the extremities forearm undergrowth aplasia involving forearm bones aplasia involving bones of the upper limbs upper limb undergrowth aplasia involving bones of the extremities limb undergrowth abnormal middle phalanx morphology of the hand abnormal proximal phalanx morphology of the hand aplasia/hypoplasia of the middle phalanges of the hand aplasia/hypoplasia of the proximal phalanges of the hand abnormality of hair pigmentation underdeveloped supraorbital ridges abnormal temporal bone morphology epiphora duplication of thumb phalanx partial duplication of thumb phalanx duplication of phalanx of hand partial duplication of the phalanx of hand broad hallux abnormality of the phalanges of the toes abnormality of the middle phalanges of the toes cone-shaped epiphyses of the phalanges of the hand aplasia of the middle phalanx of the hand short proximal phalanx of finger abnormal salivary gland morphology short thorax polydactyly abnormal greater sciatic notch morphology abnormality of the female genitalia abnormality of the male genitalia hyperextensibility of the knee fibular bowing sleep apnea central sleep apnea aplasia/hypoplasia of the epiglottis hamartoma cone-shaped epiphysis neoplasm of the skeletal system abnormal elasticity of skin abnormal zygomatic bone morphology abnormality of the curvature of the vertebral column abnormal hair pattern uterine neoplasm gonadal neoplasm urinary tract neoplasm genital neoplasm intellectual disability, severe abnormal circulating protein concentration increased nuchal translucency abnormality of the upper urinary tract abnormality of the lower urinary tract abnormal external nose morphology abnormal renal pelvis morphology dilatation of the renal pelvis abnormality of immune system physiology abnormal cerebral subcortex morphology high myopia abnormality of the gastrointestinal tract abnormal cardiovascular system physiology abnormality of fluid regulation abnormality of dental structure abnormal incisor morphology conical incisor abnormal nasal dorsum morphology abnormality of skin morphology abnormality of skin adnexa morphology abnormal shape of the frontal region abnormal hindbrain morphology abnormal metencephalon morphology abnormal digit morphology broad thumb abnormal long bone morphology abnormality of fontanelles abnormality of cranial sutures severe global developmental delay generalized abnormality of skin localized skin lesion congenital abnormal hair pattern epidermal thickening functional abnormality of the inner ear childhood onset short-limb short stature abnormality of higher mental function functional abnormality of the middle ear abnormal lacrimal punctum morphology abnormal lacrimal duct morphology abnormal lacrimal gland morphology abnormality of corneal thickness increased corneal thickness abnormal corneal epithelium morphology corneal neovascularization congenital malformation of the great arteries abnormality of joint mobility neoplasm by histology neoplasm by anatomical site midface retrusion abnormal muscle physiology abnormal skeletal muscle morphology cephalocele abnormal facial skeleton morphology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology abnormal iliac wing morphology short digit abnormal atrial septum morphology enlarged cerebellum open angle glaucoma decreased corneal sensation abnormal renal morphology abnormal reproductive system morphology abnormal respiratory system morphology abnormal homeostasis flat face abnormal eye morphology abnormal eye physiology camptodactyly abnormal blood gas level hypoxemia abnormality of brain morphology brain atrophy abnormal nervous system physiology abnormal nervous system morphology abnormality of intracranial pressure abnormal inflammatory response increased inflammatory response morphological abnormality of the gastrointestinal tract functional abnormality of the gastrointestinal tract macule neurodevelopmental delay neurodevelopmental abnormality flexion contracture of finger abnormal optic disc morphology corneal ulceration abnormal male reproductive system physiology exodeviation abnormal vascular morphology abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology abnormal esophagus physiology red eye abnormal larynx morphology abnormal ureter physiology fetal neck anomaly abnormal neck morphology flexion contracture of digit clinodactyly abnormal vascular physiology osteochondroma soft tissue sarcoma abnormal ocular adnexa morphology abnormality of cardiovascular system morphology abnormal jaw morphology abnormality of pulmonary circulation abnormality on pulmonary function testing abnormal morphology of the great vessels abnormal uterus morphology trophoblastic tumor abnormal ear morphology abnormal ear physiology abnormal oral physiology abnormal oral morphology heterotropia abnormality of the ocular adnexa abnormal male urethral meatus morphology unusual infection limbal stem cell deficiency abnormal circulating metabolite concentration temporal bossing female reproductive system neoplasm abnormality of the musculoskeletal system abnormal blood vessel morphology pre-capillary pulmonary hypertension thin corpus callosum fetal anomaly abnormal fetal morphology abnormal fetal physiology open neural tube defect phalangeal cone-shaped epiphyses joint contracture abnormal joint physiology finger clinodactyly abnormality of limbs abnormality of limb bone abnormal lower limb bone morphology abnormal upper limb bone morphology abnormal morphology of ulna abnormal forearm bone morphology increased head circumference decreased head circumference neural tube defect abnormal levels of alpha-fetoprotein aplasia/hypoplasia involving bones of the extremities knee joint hypermobility hip joint hypermobility abnormality of the scalp hair synostosis involving bones of the upper limbs synostosis of joints sarcoma leiomyosarcoma metaphyseal dysplasia ectrodactyly preaxial polydactyly abnormal tendon morphology synostosis of metacarpals/metatarsals synostosis of carpals/tarsals upper-limb joint contracture camptodactyly of finger abnormality of lower limb joint inflammatory abnormality of the eye abnormality of the supraorbital ridges cognitive impairment abnormal forebrain morphology corneal perforation displacement of the urethral meatus premature skin wrinkling abnormal thoracic spine morphology abnormal lumbar spine morphology germ cell neoplasia abnormal soft palate morphology abnormality of salivation abnormal placenta morphology choriocarcinoma abnormal sacroiliac joint morphology long fingers neoplasm of the large intestine short femoral neck abnormal palm morphology abnormality of globe location slanting of the palpebral fissure corneal erosion abnormal neural tube morphology abnormal frontal bone morphology obsolete abnormality of the shape of the midface abnormal blood oxygen level abnormal odontoid tissue morphology abnormal lung development alternative splicing ectodermal dysplasia apoptosis atp-binding chromosomal rearrangement deafness dwarfism endoplasmic reticulum glycoprotein immunoglobulin domain kinase membrane nucleotide-binding phosphoprotein receptor repeat signal transferase transmembrane tyrosine-protein kinase ubl conjugation lacrimo-auriculo-dento-digital syndrome secreted cytoplasmic vesicle craniosynostosis cell membrane disulfide bond transmembrane helix protein kinase domain serine-threonine/tyrosine-protein kinase, catalytic domain immunoglobulin subtype 2 immunoglobulin subtype immunoglobulin-like domain tyrosine-protein kinase, active site protein kinase-like domain superfamily immunoglobulin i-set immunoglobulin-like fold fibroblast growth factor receptor family protein kinase, atp binding site tyrosine-protein kinase, catalytic domain immunoglobulin-like domain superfamily tyrosine kinase, catalytic domain immunoglobulin c-2 type immunoglobulin cell activation leukocyte homeostasis regulation of protein phosphorylation positive regulation of protein phosphorylation hematopoietic progenitor cell differentiation myeloid progenitor cell differentiation lymphoid progenitor cell differentiation pro-b cell differentiation immune system process immune system development leukocyte differentiation protein phosphorylation phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process cell communication signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway multicellular organism development metabolic process cell population proliferation positive regulation of cell population proliferation response to endogenous stimulus response to hormone positive regulation of metabolic process regulation of signal transduction positive regulation of signal transduction cellular process response to organic substance response to organonitrogen compound positive regulation of phosphorus metabolic process positive regulation of macromolecule metabolic process regulation of cell communication positive regulation of cell communication regulation of cell death regulation of phosphatidylinositol 3-kinase signaling positive regulation of phosphatidylinositol 3-kinase signaling response to organic cyclic compound phosphorylation peptidyl-tyrosine phosphorylation peptidyl-amino acid modification peptidyl-tyrosine modification regulation of lipid metabolic process regulation of phosphate metabolic process cytokine-mediated signaling pathway regulation of metabolic process protein metabolic process regulation of signaling signaling positive regulation of signaling hemopoiesis lymphocyte differentiation cell differentiation b cell differentiation regeneration animal organ regeneration regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of protein modification process positive regulation of protein modification process response to corticosteroid multicellular organismal process developmental process cellular response to hormone stimulus mononuclear cell proliferation positive regulation of kinase activity response to lipid response to cytokine common myeloid progenitor cell proliferation cellular response to vascular endothelial growth factor stimulus protein modification process vascular endothelial growth factor signaling pathway b cell activation regulation of cell population proliferation response to chemical regulation of phosphorylation positive regulation of phosphorylation regulation of tyrosine phosphorylation of stat protein positive regulation of tyrosine phosphorylation of stat protein homeostatic process regulation of apoptotic process regulation of programmed cell death positive regulation of catalytic activity macromolecule metabolic process regulation of map kinase activity positive regulation of map kinase activity regulation of mapk cascade positive regulation of mapk cascade macromolecule modification regulation of kinase activity regulation of lipid kinase activity regulation of phosphatidylinositol 3-kinase activity positive regulation of phosphatidylinositol 3-kinase activity positive regulation of molecular function cellular metabolic process primary metabolic process leukocyte activation positive regulation of lipid metabolic process regulation of protein kinase activity positive regulation of protein kinase activity positive regulation of phosphate metabolic process lymphocyte activation lymphocyte proliferation protein autophosphorylation animal organ development positive regulation of biological process positive regulation of cellular process hematopoietic or lymphoid organ development response to steroid hormone regulation of response to stimulus positive regulation of response to stimulus system development anatomical structure development cellular developmental process homeostasis of number of cells regulation of peptidyl-tyrosine phosphorylation positive regulation of peptidyl-tyrosine phosphorylation regulation of biological process regulation of catalytic activity regulation of cellular process response to stimulus regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process regulation of protein metabolic process positive regulation of protein metabolic process regulation of transferase activity positive regulation of transferase activity response to glucocorticoid cellular response to stimulus regulation of macromolecule metabolic process biological regulation regulation of biological quality regulation of molecular function leukocyte proliferation response to growth factor cellular response to chemical stimulus cellular response to organic substance cellular response to cytokine stimulus cellular response to growth factor stimulus cellular response to steroid hormone stimulus cellular response to corticosteroid stimulus cellular response to glucocorticoid stimulus cellular response to lipid cellular response to organic cyclic compound cellular response to endogenous stimulus organic substance metabolic process regulation of protein serine/threonine kinase activity positive regulation of protein serine/threonine kinase activity regulation of primary metabolic process positive regulation of lipid kinase activity dendritic cell differentiation organonitrogen compound metabolic process response to nitrogen compound regulation of intracellular signal transduction positive regulation of intracellular signal transduction mononuclear cell differentiation nucleotide binding catalytic activity protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity transmembrane signaling receptor activity cytokine receptor activity vascular endothelial growth factor receptor activity binding protein binding atp binding transcription factor binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor nuclear receptor binding purine nucleotide binding transmembrane receptor protein kinase activity growth factor binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding nuclear glucocorticoid receptor binding purine ribonucleoside triphosphate binding small molecule binding signaling receptor activity ion binding anion binding protein self-association protein-containing complex binding molecular transducer activity rna polymerase ii-specific dna-binding transcription factor binding organic cyclic compound binding carbohydrate derivative binding catalytic activity, acting on a protein dna-binding transcription factor binding immune receptor activity nucleoside phosphate binding heterocyclic compound binding intracellular anatomical structure nucleus cytoplasm endosome endoplasmic reticulum endoplasmic reticulum lumen cytosol plasma membrane integral component of plasma membrane endosome membrane endomembrane system vesicle membrane membrane integral component of membrane cytoplasmic vesicle membrane organelle membrane intrinsic component of membrane intrinsic component of plasma membrane cytoplasmic vesicle membrane-enclosed lumen vesicle protein-containing complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen receptor complex intracellular organelle lumen cell periphery intracellular vesicle bounding membrane of organelle cellular anatomical entity mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and tyrosine-protein kinase, catalytic domain mixed, incl. constitutive signaling by aberrant pi3k in cancer, and fceri mediated ca+2 mobilization constitutive signaling by aberrant pi3k in cancer, and vegf ligand-receptor interactions mast-cell leukemia, and flt3 signaling through src family kinases mapk signaling pathway ras signaling pathway pi3k-akt signaling pathway hematopoietic cell lineage pathways in cancer transcriptional misregulation in cancer acute myeloid leukemia central carbon metabolism in cancer pi3k cascade irs-mediated signalling pip3 activates akt signaling cytokine signaling in immune system signal transduction disease immune system negative regulation of the pi3k/akt network pi3k/akt signaling in cancer constitutive signaling by aberrant pi3k in cancer signaling by type 1 insulin-like growth factor 1 receptor (igf1r) igf1r signaling cascade irs-related events triggered by igf1r diseases of signal transduction by growth factor receptors and second messengers raf/map kinase cascade mapk family signaling cascades mapk1/mapk3 signaling pi5p, pp2a and ier3 regulate pi3k/akt signaling insulin receptor signalling cascade signaling by insulin receptor intracellular signaling by second messengers signaling by receptor tyrosine kinases flt3 signaling stat5 activation flt3 signaling in disease drug resistance of flt3 mutants flt3 mutants bind tkis stat5 activation downstream of flt3 itd mutants kw2449-resistant flt3 mutants semaxanib-resistant flt3 mutants crenolanib-resistant flt3 mutants gilteritinib-resistant flt3 mutants lestaurtinib-resistant flt3 mutants midostaurin-resistant flt3 mutants pexidartinib-resistant flt3 mutants ponatinib-resistant flt3 mutants quizartinib-resistant flt3 mutants sorafenib-resistant flt3 mutants sunitinib-resistant flt3 mutants tandutinib-resistant flt3 mutants linifanib-resistant flt3 mutants tamatinib-resistant flt3 mutants signaling by flt3 itd and tkd mutants negative regulation of flt3 flt3 signaling through src family kinases flt3 signaling by cbl mutants hematopoietic stem cell gene regulation by gabp alpha/beta complex wnt/beta-catenin signaling pathway in leukemia pi3k-akt signaling pathway ras signaling hippo signaling regulation pathways hippo-merlin signaling dysregulation malignant pleural mesothelioma organ system cancer myelodysplastic syndrome acute promyelocytic leukemia childhood acute myeloid leukemia lymphoid leukemia leukemia acute leukemia disease of cellular proliferation cancer hematologic cancer disease bone marrow cancer bone marrow disease disease of anatomical entity hematopoietic system disease childhood leukemia chronic myeloid leukemia myeloid leukemia acute myeloid leukemia tissues, cell types and enzyme sources animal male reproductive gland reproductive system male reproductive system female reproductive system blood blast cell bone marrow myeloblast female reproductive gland gland hematopoietic system hematopoietic cell leukemia cell line myeloid leukemia cell line leukocyte lymphoid tissue lymphocyte hematopoietic cell line lymphoid cell skeletal system endocrine gland whole body acute myeloid leukemia cell line urogenital system kasumi-1 cell molm-13 cell leukemic stem cell cancer stem cell mv4-11 cell bone marrow cell kg-1a cell molm-14 cell immune system intracellular cytoplasm endosome endoplasmic reticulum endoplasmic reticulum lumen plasma membrane endomembrane system membrane cytoplasmic vesicle membrane-enclosed lumen vesicle organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen intracellular organelle lumen cell periphery intracellular vesicle cellular anatomical entity age temporal measurement cardiovascular measurement anthropometric measurement erythrocyte indices leukocyte count body weights and measures body mass index hematological measurement mean corpuscular volume lipid measurement serum non-albumin protein measurement total cholesterol measurement complete blood cell count lymphocyte count high density lipoprotein cholesterol measurement apolipoprotein a 1 measurement cystatin c measurement age at menarche lipoprotein measurement renal system measurement protein measurement neutrophil count eosinophil count inflammatory biomarker measurement platelet measurement erythrocyte measurement basophil count monocyte count lipid or lipoprotein measurement red blood cell distribution width cardiovascular disease biomarker measurement infectious disease biomarker drug use measurement blood protein measurement platelet crit granulocyte count myeloid white cell count monocyte percentage of leukocytes neutrophil percentage of leukocytes lymphocyte percentage of leukocytes granulocyte percentage of myeloid white cells comparative body size at age 10, self-reported thyroid preparation use measurement fms-related tyrosine kinase 3 ligand measurement reticulocyte measurement mean reticulocyte volume phenotypic abnormality abnormality of blood and blood-forming tissues abnormal leukocyte morphology leukemia acute leukemia neoplasm abnormality of the immune system hematological neoplasm acute myeloid leukemia acute lymphoblastic leukemia abnormal cellular immune system morphology neoplasm by anatomical site abnormal immune system morphology alternative splicing atp-binding endoplasmic reticulum glycoprotein immunoglobulin domain kinase membrane nucleotide-binding phosphoprotein proto-oncogene receptor signal transferase transmembrane tyrosine-protein kinase ubl conjugation host-virus interaction disulfide bond transmembrane helix protein kinase domain serine-threonine/tyrosine-protein kinase, catalytic domain tyrosine-protein kinase, receptor class iii, conserved site immunoglobulin-like domain tyrosine-protein kinase, active site protein kinase-like domain superfamily immunoglobulin immunoglobulin-like fold protein kinase, atp binding site tyrosine-protein kinase, catalytic domain immunoglobulin-like domain superfamily tyrosine kinase, catalytic domain immunoglobulin immunoglobulin like regulation of cell growth myeloid cell homeostasis immune system process immune system development carbohydrate metabolic process monosaccharide metabolic process glucose metabolic process alcohol metabolic process generation of precursor metabolites and energy pentose-phosphate shunt peptide metabolic process cellular modified amino acid metabolic process lipid metabolic process steroid biosynthetic process cholesterol biosynthetic process nadp metabolic process nadph regeneration glutathione metabolic process sulfur compound metabolic process phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process response to stress response to oxidative stress multicellular organism development nervous system development central nervous system development brain development metabolic process steroid metabolic process cholesterol metabolic process lipid biosynthetic process pentose-phosphate shunt, oxidative branch biosynthetic process response to external stimulus negative regulation of metabolic process cellular process response to extracellular stimulus response to organic substance response to inorganic substance response to metal ion response to iron ion response to iron(iii) ion negative regulation of macromolecule metabolic process regulation of cardiac muscle hypertrophy negative regulation of cardiac muscle hypertrophy regulation of protein glutathionylation negative regulation of protein glutathionylation regulation of cell death regulation of metal ion transport response to organic cyclic compound negative regulation of muscle hypertrophy regulation of muscle hypertrophy carbohydrate biosynthetic process sterol metabolic process sterol biosynthetic process regulation of metabolic process hexose metabolic process pentose metabolic process pentose biosynthetic process organophosphate metabolic process ribose phosphate metabolic process developmental maturation substantia nigra development hemopoiesis myeloid cell differentiation cell differentiation erythrocyte differentiation negative regulation of cell growth midbrain development regulation of cellular metabolic process negative regulation of cellular metabolic process regulation of protein modification process negative regulation of protein modification process response to nutrient levels response to food multicellular organismal process developmental process regulation of localization cellular response to stress erythrocyte homeostasis cellular response to oxidative stress cellular nitrogen compound metabolic process regulation of transmembrane transport positive regulation of transmembrane transport regulation of ion transmembrane transport positive regulation of ion transmembrane transport regulation of growth response to chemical homeostatic process regulation of apoptotic process regulation of programmed cell death erythrocyte maturation regulation of ion transport positive regulation of ion transport regulation of muscle adaptation regulation of neuron apoptotic process cellular amide metabolic process regulation of system process cellular metabolic process primary metabolic process small molecule metabolic process small molecule biosynthetic process response to ethanol regulation of cell differentiation negative regulation of cell differentiation negative regulation of growth alcohol biosynthetic process monosaccharide biosynthetic process ribose phosphate biosynthetic process regulation of organ growth negative regulation of organ growth cell development cell maturation animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process hematopoietic or lymphoid organ development regulation of response to stimulus regulation of developmental growth negative regulation of developmental growth system development erythrocyte development anatomical structure development neural nucleus development cellular developmental process homeostasis of number of cells regulation of biological process regulation of developmental process regulation of cellular process response to stimulus regulation of transport positive regulation of transport negative regulation of developmental process regulation of cellular component organization regulation of muscle cell differentiation negative regulation of muscle cell differentiation regulation of striated muscle cell differentiation negative regulation of striated muscle cell differentiation glucose 6-phosphate metabolic process regulation of nitrogen compound metabolic process negative regulation of nitrogen compound metabolic process regulation of multicellular organismal process negative regulation of multicellular organismal process regulation of protein metabolic process negative regulation of protein metabolic process cellular response to stimulus regulation of calcium ion transport positive regulation of calcium ion transport regulation of cardiac muscle tissue growth negative regulation of cardiac muscle tissue growth regulation of macromolecule metabolic process head development regulation of heart growth regulation of cell growth involved in cardiac muscle cell development negative regulation of cell growth involved in cardiac muscle cell development negative regulation of heart growth myeloid cell development cellular response to chemical stress biological regulation regulation of biological quality cellular response to chemical stimulus anatomical structure maturation organic substance metabolic process regulation of primary metabolic process regulation of muscle system process organophosphate biosynthetic process response to alcohol carbohydrate derivative metabolic process carbohydrate derivative biosynthetic process regulation of neuron death organic cyclic compound metabolic process organic cyclic compound biosynthetic process organonitrogen compound metabolic process organic substance biosynthetic process organic hydroxy compound metabolic process organic hydroxy compound biosynthetic process response to oxygen-containing compound regulation of calcium ion transmembrane transport via high voltage-gated calcium channel secondary alcohol metabolic process secondary alcohol biosynthetic process regulation of calcium ion transmembrane transport regulation of cation transmembrane transport positive regulation of cation transmembrane transport positive regulation of calcium ion transmembrane transport positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel regulation of multicellular organismal development regulation of reactive oxygen species metabolic process negative regulation of reactive oxygen species metabolic process nucleotide binding catalytic activity glucose-6-phosphate dehydrogenase activity binding protein binding glucose binding oxidoreductase activity oxidoreductase activity, acting on ch-oh group of donors oxidoreductase activity, acting on the ch-oh group of donors, nad or nadp as acceptor carbohydrate binding small molecule binding identical protein binding protein homodimerization activity protein dimerization activity monosaccharide binding nadp binding organic cyclic compound binding nucleoside phosphate binding heterocyclic compound binding extracellular region extracellular space intracellular anatomical structure nucleus cytoplasm centrosome microtubule organizing center cytosol cytoskeleton plasma membrane cytoplasmic side of plasma membrane microtubule cytoskeleton membrane vesicle centriolar satellite organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle extracellular membrane-bounded organelle extracellular exosome cell periphery side of membrane cytoplasmic side of membrane cellular anatomical entity extracellular vesicle carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism glycolysis, and pentose-phosphate shunt pentose-phosphate shunt pentose phosphate pathway glutathione metabolism metabolic pathways carbon metabolism central carbon metabolism in cancer metabolism generic transcription pathway cellular responses to stress transcriptional regulation by tp53 tp53 regulates metabolic genes pentose phosphate pathway metabolism of carbohydrates rna polymerase ii transcription gene expression (transcription) cellular responses to stimuli cellular response to chemical stress keap1-nfe2l2 pathway nuclear events mediated by nfe2l2 nfe2l2 regulates pentose phosphate pathway genes glutathione metabolism pentose phosphate metabolism cori cycle vitamin d receptor pathway nuclear receptors meta-pathway nrf2 pathway atm signaling in development and disease  metabolic reprogramming in colon cancer vitamin d-sensitive calcium signaling in depression pentose phosphate pathway in senescent cells nad metabolism in oncogene-induced senescence and mitochondrial dysfunction-associated senescence glycolysis in senescence fatty acids and lipoproteins transport in hepatocytes sulfation biotransformation reaction disease of metabolism disease by infectious agent physical disorder pigmentation disease methemoglobinemia malaria plasmodium ovale malaria plasmodium vivax malaria favism parasitic infectious disease plasmodium falciparum malaria blackwater fever integumentary system disease anemia neonatal jaundice parasitic protozoa infectious disease hemoglobinopathy glucosephosphate dehydrogenase deficiency carbohydrate metabolic disorder skin disease disease blood group incompatibility hemolytic anemia congenital hemolytic anemia genetic disease inherited metabolic disorder disease of anatomical entity normocytic anemia hematopoietic system disease tissues, cell types and enzyme sources animal male reproductive gland reproductive system male reproductive system female reproductive system blood blood plasma blood platelet respiratory system female reproductive gland organism form gland gonad hematopoietic system sporozoan form lung endocrine gland whole body merozoite protozoan form urogenital system schizozoite hypnozoite extracellular region extracellular space intracellular cytoplasm centrosome microtubule organizing center cytosol cytoskeleton plasma membrane cytoplasmic side of plasma membrane microtubule cytoskeleton membrane vesicle centriolar satellite organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle cell periphery side of membrane cytoplasmic side of membrane cellular anatomical entity sign or symptom pain erythrocyte count erythrocyte indices hematocrit iron biomarker measurement glucose measurement hematological measurement hemoglobin measurement mean corpuscular volume mean corpuscular hemoglobin hba1c measurement glycoprotein measurement complete blood cell count protein measurement erythrocyte measurement red blood cell distribution width serum iron measurement transferrin saturation measurement diabetes mellitus biomarker hemoglobin a1 measurement hemolysis abnormality of the urinary system phenotypic abnormality abnormality of the genitourinary system abnormality of the skin jaundice pallor dermatological manifestations of systemic disorders abnormality of the liver cholestasis abnormal abdomen morphology abnormality of the integument abnormality of the cardiovascular system abnormality of the spleen splenomegaly abnormality of blood and blood-forming tissues abnormal erythrocyte morphology hemolytic anemia abnormal leukocyte morphology anemia reticulocytosis abnormality of metabolism/homeostasis fever leukocytosis abnormality of the abdominal organs abdominal pain abnormality of the vasculature abnormality of the immune system hyperbilirubinemia abnormality of urine homeostasis visceromegaly hemoglobinuria abnormality of the biliary system abnormal reticulocyte morphology abnormal circulating carboxylic acid concentration abnormal circulating nitrogen compound concentration abnormality of temperature regulation poikilocytosis fava bean-induced hemolytic anemia prolonged neonatal jaundice unconjugated hyperbilirubinemia abnormal cellular immune system morphology abnormal circulating dicarboxylic acid concentration abnormality of skin morphology anisocytosis abnormality of the urinary system physiology generalized abnormality of skin abdominal symptom abnormal leukocyte count anemia due to reduced life span of red cells abnormal homeostasis pain erythrocyte inclusion bodies heinz bodies abnormality of the digestive system abnormality of digestive system physiology constitutional symptom abnormal spleen morphology abnormal circulating metabolite concentration abnormal immune system morphology abnormal urine metabolite level abnormal circulating bilirubin concentration abnormality of the lymphatic system acetylation alternative splicing carbohydrate metabolism glucose metabolism hereditary hemolytic anemia membrane nadp oxidoreductase phosphoprotein cytoplasm glucose-6-phosphate dehydrogenase, nad binding domain glucose-6-phosphate dehydrogenase, c-terminal domain glucose-6-phosphate dehydrogenase glucose-6-phosphate dehydrogenase, active site glucose-6-phosphate dehydrogenase, nad-binding glucose-6-phosphate dehydrogenase, c-terminal nad(p)-binding domain superfamily cellular glucose homeostasis regulation of peptide secretion positive regulation of peptide secretion carbohydrate metabolic process regulation of glycogen biosynthetic process monosaccharide metabolic process glucose metabolic process glucose catabolic process organic acid metabolic process pyruvate metabolic process generation of precursor metabolites and energy glycolytic process regulation of carbohydrate metabolic process regulation of glycolytic process regulation of gluconeogenesis nucleobase-containing compound metabolic process regulation of nucleotide metabolic process purine nucleotide metabolic process nucleoside diphosphate phosphorylation cellular aromatic compound metabolic process nadh metabolic process nadh regeneration nadp metabolic process nucleoside phosphate metabolic process atp generation from adp phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process transport ion transport cation transport calcium ion transport metabolic process catabolic process nucleotide metabolic process nucleoside diphosphate metabolic process purine nucleoside diphosphate metabolic process nucleoside triphosphate metabolic process purine nucleoside triphosphate metabolic process purine ribonucleotide metabolic process purine ribonucleoside diphosphate metabolic process ribonucleoside diphosphate metabolic process ribonucleoside triphosphate metabolic process purine ribonucleoside triphosphate metabolic process ribonucleotide metabolic process detection of chemical stimulus response to endogenous stimulus response to hormone detection of carbohydrate stimulus detection of hexose stimulus response to carbohydrate response to hexose response to glucose regulation of biosynthetic process negative regulation of biosynthetic process positive regulation of biosynthetic process negative regulation of metabolic process positive regulation of metabolic process regulation of catabolic process cellular process response to organic substance response to organonitrogen compound regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process positive regulation of macromolecule metabolic process regulation of cell communication positive regulation of cell communication regulation of cellular carbohydrate metabolic process positive regulation of cellular carbohydrate metabolic process negative regulation of cellular carbohydrate metabolic process regulation of hormone levels regulation of glucose metabolic process positive regulation of glucose metabolic process regulation of metal ion transport regulation of glucan biosynthetic process carbohydrate catabolic process phosphorylation regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process hexose metabolic process hexose catabolic process organophosphate metabolic process nad metabolic process ribose phosphate metabolic process cellular homeostasis carboxylic acid metabolic process regulation of signaling positive regulation of signaling metal ion transport regulation of cellular metabolic process negative regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process negative regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process positive regulation of insulin secretion monocarboxylic acid metabolic process response to insulin cellular response to insulin stimulus cellular response to hormone stimulus regulation of localization regulation of protein localization regulation of polysaccharide metabolic process regulation of polysaccharide biosynthetic process carbohydrate homeostasis response to monosaccharide detection of monosaccharide stimulus cellular nitrogen compound metabolic process response to chemical regulation of phosphorylation homeostatic process glucose homeostasis regulation of carbohydrate biosynthetic process regulation of potassium ion transport regulation of ion transport response to peptide hormone oxoacid metabolic process regulation of generation of precursor metabolites and energy regulation of carbohydrate catabolic process cellular metabolic process primary metabolic process cellular carbohydrate metabolic process small molecule metabolic process small molecule catabolic process cellular response to leptin stimulus response to leptin negative regulation of gluconeogenesis positive regulation of glycogen biosynthetic process negative regulation of carbohydrate metabolic process positive regulation of carbohydrate metabolic process adp metabolic process atp metabolic process monosaccharide catabolic process heterocycle metabolic process carbohydrate phosphorylation regulation of hormone secretion positive regulation of hormone secretion nucleotide phosphorylation positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process chemical homeostasis regulation of protein secretion positive regulation of protein secretion regulation of biological process regulation of cellular process regulation of insulin secretion response to stimulus regulation of secretion positive regulation of secretion regulation of transport positive regulation of transport glucose 6-phosphate metabolic process regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process localization positive regulation of protein transport regulation of protein transport establishment of localization detection of glucose detection of stimulus cellular response to stimulus cellular chemical homeostasis nucleobase-containing small molecule metabolic process regulation of macromolecule metabolic process regulation of cellular localization glycolytic process through fructose-6-phosphate glycolytic process through glucose-6-phosphate canonical glycolysis glucose catabolic process to pyruvate regulation of small molecule metabolic process positive regulation of small molecule metabolic process negative regulation of small molecule metabolic process biological regulation regulation of biological quality regulation of establishment of protein localization calcium ion import regulation of glycogen metabolic process positive regulation of glycogen metabolic process cellular response to chemical stimulus cellular response to organic substance cellular response to peptide hormone stimulus cellular response to organonitrogen compound cellular response to endogenous stimulus organic substance metabolic process purine-containing compound metabolic process regulation of primary metabolic process regulation of peptide transport regulation of peptide hormone secretion positive regulation of peptide hormone secretion regulation of purine nucleotide metabolic process carbohydrate derivative metabolic process organic cyclic compound metabolic process organonitrogen compound metabolic process organic substance catabolic process response to peptide cellular response to peptide response to nitrogen compound cellular response to nitrogen compound response to oxygen-containing compound cellular response to oxygen-containing compound regulation of secretion by cell positive regulation of secretion by cell regulation of atp metabolic process positive regulation of protein localization positive regulation of establishment of protein localization regulation of cellular macromolecule biosynthetic process nucleotide binding catalytic activity glucokinase activity hexokinase activity binding atp binding glucose binding fructokinase activity kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding mannokinase activity carbohydrate kinase activity carbohydrate binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding ion binding anion binding monosaccharide binding organic cyclic compound binding carbohydrate derivative binding nucleoside phosphate binding heterocyclic compound binding intracellular anatomical structure nucleus nucleoplasm cytoplasm mitochondrion cytosol membrane-enclosed lumen nuclear lumen organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen intracellular organelle lumen cellular anatomical entity carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism glycogen storage disease i, and ribokinase-like glycolysis / gluconeogenesis galactose metabolism starch and sucrose metabolism amino sugar and nucleotide sugar metabolism neomycin, kanamycin and gentamicin biosynthesis metabolic pathways carbon metabolism insulin signaling pathway insulin secretion prolactin signaling pathway glucagon signaling pathway type ii diabetes mellitus maturity onset diabetes of the young central carbon metabolism in cancer developmental biology metabolism disease regulation of glucokinase by glucokinase regulatory protein regulation of beta-cell development regulation of gene expression in beta cells generic transcription pathway defective gck causes maturity-onset diabetes of the young 2 (mody2) slc transporter disorders defective tpr may confer susceptibility towards thyroid papillary carcinoma (tpc) disorders of transmembrane transporters glycolysis glucose metabolism metabolism of carbohydrates rna polymerase ii transcription gene expression (transcription) foxo-mediated transcription foxo-mediated transcription of oxidative stress, metabolic and neuronal genes familial hyperlipidemia type 4 metabolic pathways of fibroblasts glycolysis and gluconeogenesis sudden infant death syndrome (sids) susceptibility pathways disease of metabolism monogenic disease maturity-onset diabetes of the young autosomal dominant disease autosomal recessive disease autosomal genetic disease permanent neonatal diabetes mellitus maturity-onset diabetes of the young type 1 maturity-onset diabetes of the young type 2 maturity-onset diabetes of the young type 5 maturity-onset diabetes of the young type 3 maturity-onset diabetes of the young type 4 gestational diabetes neonatal diabetes mellitus hyperinsulinemic hypoglycemia carbohydrate metabolic disorder disease glucose metabolism disease genetic disease inherited metabolic disorder diabetes mellitus hypoglycemia tissues, cell types and enzyme sources animal embryonic structure organism form digestive gland fetus gland endocrine pancreas liver pancreatic beta cell pancreas pancreatic islet endocrine gland whole body viscus pancreatic islet cell intracellular cytoplasm cytosol organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle cellular anatomical entity diabetes mellitus digestive system disease disease metabolic disease endocrine system disease sign or symptom albuminuria cardiovascular measurement anthropometric measurement vital signs glucose tolerance test body weights and measures blood pressure body weight body height body mass index birth weight fasting blood glucose measurement fasting blood insulin measurement insulin measurement glucose measurement homa-b hematological measurement hemoglobin measurement bone measurement lipid measurement triglyceride measurement alkaline phosphatase measurement hba1c measurement glycoprotein measurement liver enzyme measurement sex hormone-binding globulin measurement metabolite measurement hormone measurement protein measurement lipid or lipoprotein measurement cardiovascular disease biomarker measurement serum metabolite measurement pulse pressure measurement parental genotype effect measurement systolic blood pressure diabetes mellitus biomarker genotype effect measurement glucose metabolism disease pancreas disease sex hormone measurement abnormality of the kidney abnormality of the urinary system proteinuria renal cyst nephropathy phenotypic abnormality abnormality of the genitourinary system renal tubular dysfunction abnormality of head or neck abnormality of the mouth abnormal oral cavity morphology abnormality of the head abnormality of the fontanelles or cranial sutures abnormality of the face abnormality of the forehead hearing abnormality hearing impairment abnormality of the eye abnormal retinal morphology retinopathy ptosis abnormality of the ear abnormality of the nervous system abnormal peripheral nervous system morphology peripheral axonal degeneration abnormality of the endocrine system diabetes mellitus hyperinsulinemic hypoglycemia insulin-resistant diabetes mellitus hyperinsulinemia insulin resistance neonatal insulin-dependent diabetes mellitus abnormality of the skeletal system abnormal skull morphology abnormal fundus morphology intellectual disability seizure ataxia hypotonia coma global developmental delay motor delay muscle weakness hypoglycemic coma tremor flexion contracture abnormality of the liver bilateral ptosis growth abnormality failure to thrive growth delay intrauterine growth retardation obesity small for gestational age large for gestational age abnormality of the cardiovascular system abnormal heart morphology abnormality of the pancreas exocrine pancreatic insufficiency weight loss abnormality of blood and blood-forming tissues abnormal erythrocyte morphology abnormality of metabolism/homeostasis hypoglycemia dehydration glucose intolerance hypoketotic hypoglycemia recurrent hypoglycemia neonatal hypoglycemia abnormality of the abdominal organs bilateral tonic-clonic seizure generalized myoclonic seizure hypoglycemic seizures apraxia generalized-onset seizure abnormality of the autonomic nervous system hand tremor pancreatic hypoplasia neoplasm downturned corners of mouth congenital contracture arthrogryposis multiplex congenita neoplasm of the liver ketonuria abnormality of the musculature hyperglycemia glycosuria abnormality of urine homeostasis abnormal circulating hormone concentration limb joint contracture peripheral axonal neuropathy abnormality of connective tissue abnormal muscle tone involuntary movements abnormality of body weight increased body weight decreased body weight abnormal posterior eye segment morphology reduced consciousness/confusion maturity-onset diabetes of the young abnormal oral glucose tolerance prominent metopic ridge abnormality of the metopic suture lower-limb joint contracture type ii diabetes mellitus reduced pancreatic beta cells abnormality of the pancreatic islet cells neoplasm of the gastrointestinal tract transient neonatal diabetes mellitus fasting hyperinsulinemia abnormal axial skeleton morphology peripheral neuropathy intellectual disability, severe abnormal circulating protein concentration abnormality of the upper urinary tract abnormal glucose homeostasis abnormal blood glucose concentration abnormality of the gastrointestinal tract abnormal cardiovascular system physiology abnormality of blood circulation abnormality of fluid regulation abnormality of blood volume homeostasis hypovolemia symptomatic seizures abnormality of the urinary system physiology abnormality of cranial sutures abnormality of mouth shape abnormal central motor function abnormality of coordination abnormality of higher mental function abnormality of joint mobility neoplasm by anatomical site abnormal muscle physiology abnormal skeletal muscle morphology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal hemoglobin hepatocellular adenoma abnormal pancreas morphology abnormality of pancreas physiology abnormality of exocrine pancreas physiology abnormality of endocrine pancreas physiology abnormal pancreas size abnormal renal morphology abnormal renal physiology abnormal homeostasis abnormal eye morphology abnormal eye physiology fatigue albuminuria moderate albuminuria abnormal nervous system physiology abnormal nervous system morphology neurodevelopmental delay neurodevelopmental abnormality abnormal urine protein level motor seizure abnormality of the digestive system constitutional symptom overweight tremor by anatomical site abnormality of cardiovascular system morphology abnormal circulating c-peptide concentration reduced c-peptide level abnormal ear physiology abnormal oral morphology abnormal waist to hip ratio increased waist to hip ratio abnormal circulating metabolite concentration generalized-onset motor seizure myoclonic seizure abnormality of the musculoskeletal system abnormal urine metabolite level joint contracture abnormal joint physiology abnormal circulating insulin concentration hypoinsulinemia elevated hemoglobin a1c impaired glucose tolerance abnormality of movement abnormal tendon morphology cognitive impairment type i diabetes mellitus aplasia/hypoplasia of the pancreas abnormality of the peripheral nervous system endocrine pancreas disorder allosteric enzyme alternative splicing atp-binding diabetes mellitus glycolysis kinase mitochondrion nucleus nucleotide-binding transferase cytoplasm hexokinase hexokinase hexokinase hexokinase, binding site hexokinase, n-terminal hexokinase, c-terminal atpase, nucleotide binding domain suckling behavior regulation of respiratory gaseous exchange by nervous system process system process organic acid metabolic process cellular amino acid metabolic process glutamate metabolic process glutamate biosynthetic process glutamine metabolic process glutamine catabolic process nitrogen compound metabolic process cell communication cell-cell signaling chemical synaptic transmission behavior feeding behavior metabolic process cellular amino acid biosynthetic process catabolic process biosynthetic process cellular amino acid catabolic process glutamine family amino acid metabolic process glutamine family amino acid catabolic process glutamine family amino acid biosynthetic process cellular process cellular component organization organic acid biosynthetic process organic acid catabolic process carboxylic acid metabolic process cellular component assembly signaling multicellular organismal process homeostatic process oxoacid metabolic process regulation of respiratory gaseous exchange dicarboxylic acid metabolic process dicarboxylic acid biosynthetic process protein-containing complex organization regulation of system process regulation of respiratory system process cellular component biogenesis cellular metabolic process primary metabolic process cellular catabolic process cellular biosynthetic process small molecule metabolic process small molecule catabolic process small molecule biosynthetic process carboxylic acid biosynthetic process carboxylic acid catabolic process chemical homeostasis regulation of biological process ion homeostasis nervous system process regulation of multicellular organismal process protein complex oligomerization protein homooligomerization protein tetramerization protein homotetramerization anion homeostasis protein-containing complex assembly biological regulation regulation of biological quality organic substance metabolic process cellular component organization or biogenesis amino acid homeostasis glutamate homeostasis anterograde trans-synaptic signaling synaptic signaling trans-synaptic signaling organonitrogen compound metabolic process organonitrogen compound catabolic process organonitrogen compound biosynthetic process organic substance catabolic process organic substance biosynthetic process alpha-amino acid metabolic process alpha-amino acid catabolic process alpha-amino acid biosynthetic process catalytic activity glutaminase activity hydrolase activity hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides intracellular anatomical structure cytoplasm mitochondrion mitochondrial matrix cytosol cell junction membrane-enclosed lumen organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen synapse intracellular organelle lumen cellular anatomical entity mixed, incl. glutamine family amino acid metabolic process, and hydantoinase/dihydropyrimidinase mixed, incl. glutamine family amino acid biosynthetic process, and metal-dependent hydrolase, composite domain superfamily glutamine family amino acid biosynthetic process, and arginine and proline metabolism glutamine family amino acid biosynthetic process, and proline metabolism mixed, incl. glutamate biosynthetic process, and ammonia ligase activity glutamate biosynthetic process, and nitrogen utilization arginine biosynthesis alanine, aspartate and glutamate metabolism d-glutamine and d-glutamate metabolism metabolic pathways glutamatergic synapse gabaergic synapse proximal tubule bicarbonate reclamation micrornas in cancer central carbon metabolism in cancer neurotransmitter release cycle transmission across chemical synapses neuronal system metabolism glutamate neurotransmitter release cycle generic transcription pathway transcriptional regulation by tp53 tp53 regulates metabolic genes metabolism of amino acids and derivatives rna polymerase ii transcription gene expression (transcription) glutamate and glutamine metabolism amino acid metabolism gaba metabolism (aka ghb) metabolic reprogramming in colon cancer neuroinflammation and glutamatergic signaling amino acid metabolism in triple-negative breast cancer cells metabolic pathways of fibroblasts sensory system disease monogenic disease lens disease epilepsy central nervous system disease disease eye disease genetic disease disease of anatomical entity cataract nervous system disease brain disease tissues, cell types and enzyme sources animal reproductive system female reproductive system brain embryonic structure central nervous system head organism form digestive gland gland colonic cancer cell liver nervous system endocrine gland whole body viscus gastrointestinal cancer cell urogenital system intracellular cytoplasm mitochondrion mitochondrial matrix membrane-enclosed lumen protein-containing complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen intracellular organelle lumen cellular anatomical entity catalytic complex glutaminase complex anthropometric measurement body weights and measures waist-hip ratio hematological measurement amino acid measurement bmi-adjusted waist-hip ratio body ratio measurement reticulocyte count threonine measurement reticulocyte measurement phenotypic abnormality abnormality of the nervous system delayed speech and language development seizure ataxia hypotonia global developmental delay motor delay encephalopathy neonatal hypotonia progressive cerebellar ataxia abnormality of the respiratory system respiratory insufficiency neurological speech impairment delayed gross motor development febrile seizure (within the age range of 3 months to 6 years) language impairment abnormal respiratory system physiology abnormality of the musculature abnormal muscle tone abnormal central motor function abnormality of coordination abnormality of higher mental function abnormal muscle physiology abnormal nervous system physiology neurodevelopmental delay neurodevelopmental abnormality infection-related seizure seizure precipitated by febrile infection abnormality of the musculoskeletal system epileptic encephalopathy acetylation alternative splicing ank repeat hydrolase mitochondrion phosphoprotein repeat transit peptide epilepsy cataract cytoplasm glutaminase ankyrin repeat beta-lactamase/transpeptidase-like glutaminase ankyrin repeat-containing domain superfamily glutaminase, ef-hand domain ankyrin repeats organic acid metabolic process cellular amino acid metabolic process glutamate metabolic process glutamate biosynthetic process glutamine metabolic process glutamine catabolic process nitrogen compound metabolic process metabolic process cellular amino acid biosynthetic process catabolic process biosynthetic process cellular amino acid catabolic process glutamine family amino acid metabolic process glutamine family amino acid catabolic process glutamine family amino acid biosynthetic process cellular process regulation of cell death organic acid biosynthetic process organic acid catabolic process carboxylic acid metabolic process regulation of apoptotic process regulation of programmed cell death oxoacid metabolic process dicarboxylic acid metabolic process dicarboxylic acid biosynthetic process cellular metabolic process primary metabolic process cellular catabolic process cellular biosynthetic process small molecule metabolic process small molecule catabolic process small molecule biosynthetic process carboxylic acid biosynthetic process carboxylic acid catabolic process regulation of biological process regulation of cellular process biological regulation organic substance metabolic process reactive oxygen species metabolic process organonitrogen compound metabolic process organonitrogen compound catabolic process organonitrogen compound biosynthetic process organic substance catabolic process organic substance biosynthetic process alpha-amino acid metabolic process alpha-amino acid catabolic process alpha-amino acid biosynthetic process catalytic activity glutaminase activity hydrolase activity hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides intracellular anatomical structure cytoplasm mitochondrion mitochondrial matrix membrane-enclosed lumen organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen intracellular organelle lumen cellular anatomical entity mixed, incl. glutamine family amino acid metabolic process, and hydantoinase/dihydropyrimidinase mixed, incl. glutamine family amino acid biosynthetic process, and metal-dependent hydrolase, composite domain superfamily glutamine family amino acid biosynthetic process, and arginine and proline metabolism glutamine family amino acid biosynthetic process, and proline metabolism mixed, incl. glutamate biosynthetic process, and ammonia ligase activity glutamate biosynthetic process, and nitrogen utilization arginine biosynthesis alanine, aspartate and glutamate metabolism d-glutamine and d-glutamate metabolism metabolic pathways glutamatergic synapse gabaergic synapse proximal tubule bicarbonate reclamation micrornas in cancer central carbon metabolism in cancer neurotransmitter release cycle transmission across chemical synapses neuronal system metabolism glutamate neurotransmitter release cycle generic transcription pathway transcriptional regulation by tp53 tp53 regulates metabolic genes metabolism of amino acids and derivatives rna polymerase ii transcription gene expression (transcription) glutamate and glutamine metabolism gaba metabolism (aka ghb) pyrimidine metabolism and related diseases urea cycle and related diseases biomarkers for urea cycle disorders urea cycle and associated pathways p53 transcriptional gene network neuroinflammation and glutamatergic signaling metabolic reprogramming in pancreatic cancer integumentary system disease dermatitis skin disease disease disease of anatomical entity bullous skin disease dermatitis herpetiformis juvenile dermatitis herpetiformis tissues, cell types and enzyme sources animal brain breast cancer cell carcinoma cell central nervous system head digestive gland epithelioma cell gland adenocarcinoma cell liver nervous system endocrine gland whole body viscus intracellular cytoplasm mitochondrion mitochondrial matrix membrane-enclosed lumen protein-containing complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen intracellular organelle lumen cellular anatomical entity catalytic complex glutaminase complex disease cardiovascular measurement c-reactive protein measurement glucose measurement urate measurement apolipoprotein a 1 measurement metabolite measurement lipoprotein measurement renal system measurement protein measurement inflammatory biomarker measurement lipid or lipoprotein measurement amino acid measurement cardiovascular disease biomarker measurement serum metabolite measurement blood metabolite measurement diabetes mellitus biomarker complication adverse effect glycine measurement glutamine measurement serum urea measurement acetylation alternative splicing ank repeat hydrolase mitochondrion repeat transit peptide glutaminase ankyrin repeat beta-lactamase/transpeptidase-like glutaminase ankyrin repeat-containing domain superfamily glutaminase, ef-hand domain ankyrin repeats reproduction response to reactive oxygen species skeletal system development ossification angiogenesis blood vessel development eye development response to hypoxia ameboidal-type cell migration cellular glucose homeostasis in utero embryonic development neural crest cell migration leukocyte homeostasis b cell homeostasis cytokine production regulation of cytokine production positive regulation of cytokine production epithelial to mesenchymal transition embryonic epithelial tube formation neural tube formation neural fold formation placenta development embryonic placenta development b-1 b cell homeostasis regulation of endothelial cell proliferation positive regulation of endothelial cell proliferation vasculature development heart looping regulation of cytokine-mediated signaling pathway positive regulation of cytokine-mediated signaling pathway morphogenesis of an epithelium positive regulation of neuroblast proliferation chondrocyte differentiation epithelial cell development columnar/cuboidal epithelial cell differentiation columnar/cuboidal epithelial cell development glandular epithelial cell differentiation glandular epithelial cell development columnar/cuboidal epithelial cell maturation epithelial cell maturation glandular epithelial cell maturation wound healing involved in inflammatory response connective tissue replacement involved in inflammatory response wound healing lymphocyte homeostasis immune system process immune system development regulation of immune system process peptide secretion regulation of peptide secretion positive regulation of peptide secretion developmental process involved in reproduction heart morphogenesis system process embryonic heart tube morphogenesis outflow tract morphogenesis cardiac chamber development cardiac chamber morphogenesis cardiac ventricle morphogenesis cardiac ventricle development organic acid metabolic process lactate metabolic process regulation of carbohydrate metabolic process regulation of glycolytic process regulation of nucleotide metabolic process regulation of transcription, dna-templated regulation of transcription by rna polymerase ii nitrogen compound metabolic process transport cellular ion homeostasis cellular metal ion homeostasis cellular iron ion homeostasis apoptotic process response to stress defense response inflammatory response response to oxidative stress microtubule-based process microtubule-based movement cell communication signal transduction cell-cell signaling multicellular organism development determination of left/right symmetry pattern specification process nervous system development neuroblast proliferation central nervous system development brain development sensory organ development heart development body fluid secretion lactation behavior learning or memory learning visual behavior axo-dendritic transport protein localization metabolic process cell death cell population proliferation positive regulation of cell population proliferation associative learning visual learning biosynthetic process macromolecule biosynthetic process glycoprotein metabolic process protein secretion response to radiation response to light stimulus response to external stimulus response to biotic stimulus response to wounding response to virus response to abiotic stimulus anatomical structure morphogenesis response to carbohydrate response to hexose response to glucose embryo development embryo development ending in birth or egg hatching specification of symmetry determination of bilateral symmetry animal organ morphogenesis tissue development regulation of biosynthetic process positive regulation of biosynthetic process negative regulation of metabolic process positive regulation of metabolic process regulation of catabolic process positive regulation of catabolic process hormone transport regulation of signal transduction positive regulation of signal transduction negative regulation of signal transduction cellular process response to organic substance response to inorganic substance response to metal ion response to iron ion gene expression regulation of gene expression regulation of signaling receptor activity regulation of autophagy positive regulation of autophagy regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process positive regulation of phosphorus metabolic process vascular endothelial growth factor production regulation of vascular endothelial growth factor production positive regulation of vascular endothelial growth factor production regulation of endothelial cell migration positive regulation of endothelial cell migration positive regulation of macromolecule metabolic process negative regulation of macromolecule metabolic process positive regulation of gene expression negative regulation of gene expression regulation of epithelial cell migration positive regulation of epithelial cell migration positive regulation of organelle organization regulation of cell communication positive regulation of cell communication negative regulation of cell communication positive regulation of cell development regulation of hormone levels regulation of mitochondrion organization positive regulation of mitochondrion organization regulation of cell death transport along microtubule programmed cell death primary neural tube formation neural crest cell development neural crest cell differentiation response to activity response to muscle activity protein transport peptide transport positive regulation of macroautophagy regulation of macroautophagy morphogenesis of embryonic epithelium cell migration regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process protein metabolic process cellular homeostasis carboxylic acid metabolic process axonal transport of mitochondrion hemoglobin metabolic process neural fold elevation formation telencephalon development pallium development developmental maturation neural tube development cerebral cortex development neurogenesis reproductive process regulation of anatomical structure morphogenesis regulation of signaling signaling positive regulation of signaling negative regulation of signaling signal release cellular cation homeostasis peptide hormone secretion insulin secretion hemopoiesis cell differentiation neuron differentiation regulation of ossification negative regulation of ossification bone mineralization regulation of cell migration positive regulation of cell migration regulation of bone mineralization negative regulation of bone mineralization cytoskeleton-dependent intracellular transport epithelial cell differentiation mammary gland development forebrain development regulation of vascular endothelial growth factor receptor signaling pathway positive regulation of vascular endothelial growth factor receptor signaling pathway biomineral tissue development regulation of cellular metabolic process negative regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process regulation of cellular catabolic process positive regulation of cellular catabolic process regulation of protein modification process tor signaling regulation of tor signaling negative regulation of tor signaling positive regulation of insulin secretion regulation of hormone metabolic process positive regulation of hormone metabolic process oxygen homeostasis multicellular organismal process developmental process regulation of chemokine production positive regulation of chemokine production regulation of monooxygenase activity positive regulation of monooxygenase activity monocarboxylic acid metabolic process regulation of localization regulation of protein localization regulation of transforming growth factor beta2 production secretion by cell collagen metabolic process macromolecule localization regulation of organelle organization gas homeostasis carbohydrate homeostasis cellular response to stress response to cytokine response to monosaccharide cellular response to oxidative stress establishment of mitochondrion localization, microtubule-mediated cellular macromolecule biosynthetic process embryonic heart tube development tube formation embryonic hemopoiesis tube morphogenesis tube development intracellular signal transduction establishment of protein localization to extracellular region insulin secretion involved in cellular response to glucose stimulus positive regulation of insulin secretion involved in cellular response to glucose stimulus positive regulation of transcription from rna polymerase ii promoter in response to stress response to decreased oxygen levels cellular response to decreased oxygen levels regulation of growth regulation of locomotion positive regulation of locomotion wound healing regulation of cell population proliferation response to chemical regulation of phosphorylation positive regulation of phosphorylation hemoglobin biosynthetic process homeostatic process glucose homeostasis amide transport regulation of apoptotic process chordate embryonic development camera-type eye development negative regulation of apoptotic process regulation of programmed cell death negative regulation of programmed cell death positive regulation of catalytic activity macromolecule metabolic process response to external biotic stimulus oxoacid metabolic process regulation of cellular respiration regulation of generation of precursor metabolites and energy regulation of carbohydrate catabolic process regulation of neuron apoptotic process negative regulation of neuron apoptotic process regulation of blood vessel endothelial cell migration positive regulation of blood vessel endothelial cell migration regulation of transcription from rna polymerase ii promoter in response to stress regulation of transcription from rna polymerase ii promoter in response to oxidative stress regulation of dna-templated transcription in response to stress positive regulation of molecular function cellular metabolic process primary metabolic process cellular biosynthetic process cellular macromolecule metabolic process small molecule metabolic process biological process involved in interspecies interaction between organisms establishment of protein localization regulation of cell differentiation positive regulation of cell differentiation regulation of myeloid cell differentiation positive regulation of myeloid cell differentiation regulation of erythrocyte differentiation positive regulation of erythrocyte differentiation regulation of angiogenesis positive regulation of angiogenesis positive regulation of glycolytic process positive regulation of transcription, dna-templated positive regulation of carbohydrate metabolic process negative regulation of growth positive regulation of nucleobase-containing compound metabolic process positive regulation of phosphate metabolic process positive regulation of transcription by rna polymerase ii positive regulation of nucleotide metabolic process muscle cell cellular homeostasis hormone secretion regulation of hormone secretion regulation of hormone biosynthetic process positive regulation of hormone biosynthetic process positive regulation of hormone secretion secretion intracellular transport cellular transition metal ion homeostasis mitochondrion transport along microtubule cell development cell maturation animal organ development blood vessel morphogenesis positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process hematopoietic or lymphoid organ development digestive tract morphogenesis embryonic organ morphogenesis digestive tract development embryonic organ development regulation of response to stimulus positive regulation of response to stimulus negative regulation of response to stimulus eye morphogenesis camera-type eye morphogenesis embryonic morphogenesis reproductive structure development anatomical structure formation involved in morphogenesis generation of neurons tissue morphogenesis system development gland development mesenchymal cell differentiation tissue remodeling anatomical structure development stem cell differentiation stem cell development cellular developmental process cell motility homeostasis of number of cells chemical homeostasis sensory system development regulation of epithelial cell proliferation positive regulation of epithelial cell proliferation regulation of protein secretion positive regulation of protein secretion regulation of neurogenesis positive regulation of neurogenesis regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process regulation of insulin secretion ion homeostasis nervous system process regulation of body fluid levels cognition response to stimulus regulation of nitric-oxide synthase activity positive regulation of nitric-oxide synthase activity regulation of secretion positive regulation of secretion regulation of transport positive regulation of transport negative regulation of developmental process positive regulation of developmental process regulation of cellular component organization positive regulation of cellular component organization regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process localization cartilage development positive regulation of protein transport regulation of protein transport establishment of localization regulation of multicellular organismal process positive regulation of multicellular organismal process negative regulation of multicellular organismal process regulation of protein metabolic process regulation of rna metabolic process positive regulation of rna metabolic process regulation of oxidoreductase activity positive regulation of oxidoreductase activity neuron apoptotic process elastin metabolic process organelle localization cellular localization mitochondrion localization establishment of localization in cell establishment of mitochondrion localization establishment of organelle localization response to other organism cellular response to stimulus regulation of nervous system development positive regulation of nervous system development metal ion homeostasis iron ion homeostasis transition metal ion homeostasis cation homeostasis cellular chemical homeostasis digestive system development retina development in camera-type eye anatomical structure homeostasis regulation of macromolecule metabolic process regulation of cell development head development regulation of cellular localization epithelium development mesenchyme development negative regulation of cell death epithelial tube morphogenesis morphogenesis of an epithelial fold intestinal epithelial cell maturation intestinal epithelial cell differentiation intestinal epithelial cell development mammary gland epithelial cell differentiation mammary gland alveolus development regulation of response to cytokine stimulus positive regulation of response to cytokine stimulus epithelial cell differentiation involved in mammary gland alveolus development iris morphogenesis regulation of insulin secretion involved in cellular response to glucose stimulus mammary gland epithelium development retina vasculature development in camera-type eye neural precursor cell proliferation determination of heart left/right asymmetry mammary gland lobule development regulation of transcription from rna polymerase ii promoter in response to hypoxia positive regulation of transcription from rna polymerase ii promoter in response to hypoxia connective tissue development reproductive system development regulation of small molecule metabolic process positive regulation of small molecule metabolic process cellular response to chemical stress biological regulation regulation of biological quality regulation of molecular function regulation of chemokine-mediated signaling pathway positive regulation of chemokine-mediated signaling pathway regulation of biomineral tissue development negative regulation of biomineral tissue development regulation of establishment of protein localization regulation of lymphocyte apoptotic process negative regulation of lymphocyte apoptotic process regulation of t cell apoptotic process negative regulation of t cell apoptotic process regulation of thymocyte apoptotic process negative regulation of thymocyte apoptotic process response to oxygen levels response to interleukin-1 cellular macromolecule localization cellular response to chemical stimulus neuron death cellular response to organic substance cellular response to carbohydrate stimulus cellular response to monosaccharide stimulus cellular response to hexose stimulus cellular response to glucose stimulus cellular response to cytokine stimulus cellular response to interleukin-1 cellular response to oxygen levels cellular response to hypoxia dopaminergic neuron differentiation regulation of transforming growth factor beta production protein localization to extracellular region anatomical structure maturation organic substance transport organic substance metabolic process nitrogen compound transport epithelial tube formation circulatory system development organelle transport along microtubule regulation of primary metabolic process regulation of response to stress regulation of cellular response to stress regulation of peptide transport regulation of peptide hormone secretion positive regulation of peptide hormone secretion regulation of cellular response to growth factor stimulus mesenchymal cell migration inflammatory response to wounding sensory organ morphogenesis mesenchymal cell apoptotic process hypoxia-inducible factor-1alpha signaling pathway connective tissue replacement cellular response to virus inorganic ion homeostasis axonal transport microtubule-based transport biomineralization regulation of biomineralization negative regulation of biomineralization export from cell visual system development regulation of cytokine production involved in inflammatory response positive regulation of cytokine production involved in inflammatory response regulation of cellular response to oxidative stress regulation of purine nucleotide metabolic process positive regulation of purine nucleotide metabolic process carbohydrate derivative metabolic process regulation of neuron death negative regulation of neuron death regulation of vasculature development positive regulation of transcription from rna polymerase ii promoter involved in cellular response to chemical stimulus organonitrogen compound metabolic process organonitrogen compound biosynthetic process organic substance biosynthetic process organic hydroxy compound metabolic process response to oxygen-containing compound cellular response to oxygen-containing compound regulation of oxidative stress-induced intrinsic apoptotic signaling pathway negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway regulation of intracellular signal transduction negative regulation of intracellular signal transduction positive regulation of rna biosynthetic process regulation of neuroblast proliferation regulation of response to oxidative stress regulation of mirna transcription positive regulation of mirna transcription regulation of autophagy of mitochondrion regulation of oxidative stress-induced cell death negative regulation of oxidative stress-induced cell death regulation of oxidative stress-induced neuron death negative regulation of oxidative stress-induced neuron death regulation of protein modification by small protein conjugation or removal regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription regulation of secretion by cell positive regulation of secretion by cell regulation of atp metabolic process positive regulation of atp metabolic process positive regulation of autophagy of mitochondrion regulation of hemopoiesis regulation of aerobic respiration positive regulation of protein localization positive regulation of vasculature development positive regulation of establishment of protein localization regulation of multicellular organismal development regulation of leukocyte apoptotic process negative regulation of leukocyte apoptotic process regulation of cell motility positive regulation of cell motility regulation of neural precursor cell proliferation positive regulation of neural precursor cell proliferation positive regulation of signaling receptor activity regulation of reactive oxygen species metabolic process negative regulation of reactive oxygen species metabolic process regulation of protein neddylation regulation of mirna metabolic process positive regulation of mirna metabolic process regulation of mesenchymal cell apoptotic process negative regulation of mesenchymal cell apoptotic process regulation of rna biosynthetic process regulation of apoptotic signaling pathway negative regulation of apoptotic signaling pathway regulation of intrinsic apoptotic signaling pathway negative regulation of intrinsic apoptotic signaling pathway transcription cis-regulatory region binding rna polymerase ii transcription regulatory region sequence-specific dna binding rna polymerase ii cis-regulatory region sequence-specific dna binding dna-binding transcription factor activity, rna polymerase ii-specific cis-regulatory region sequence-specific dna binding transcription regulatory region nucleic acid binding dna-binding transcription activator activity transcription coregulator binding transcription coactivator binding dna-binding transcription activator activity, rna polymerase ii-specific p53 binding nucleic acid binding dna binding double-stranded dna binding dna-binding transcription factor activity binding protein binding transcription factor binding nuclear receptor binding enzyme binding kinase binding protein kinase binding protein domain specific binding heat shock protein binding ubiquitin protein ligase binding histone deacetylase binding sequence-specific dna binding ubiquitin-like protein ligase binding protein heterodimerization activity protein dimerization activity hsp90 protein binding rna polymerase ii-specific dna-binding transcription factor binding e-box binding organic cyclic compound binding transcription regulator activity dna-binding transcription factor binding heterocyclic compound binding sequence-specific double-stranded dna binding chromatin euchromatin intracellular anatomical structure nucleus nucleoplasm transcription regulator complex chromosome cytoplasm cytosol cilium nuclear body nuclear speck axon motile cilium membrane-enclosed lumen nuclear lumen plasma membrane bounded cell projection cytoplasm protein-containing complex cell projection neuron projection organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen intracellular organelle lumen rna polymerase ii transcription regulator complex cytoplasmic region cellular anatomical entity plasma membrane bounded cell projection neuron projection cytoplasm nuclear protein-containing complex axon cytoplasm mixed, incl. oxygen-dependent proline hydroxylation of hypoxia-inducible factor alpha, and ubiquitin conjugating enzyme activity oxygen-dependent proline hydroxylation of hypoxia-inducible factor alpha, and proteasome assembly oxygen-dependent proline hydroxylation of hypoxia-inducible factor alpha, and proteasome assembly type 2 papillary renal cell carcinoma, and ajuba-like type 2 papillary renal cell carcinoma familial erythrocytosis 2, and hif-1 alpha c terminal transactivation domain hif-1 signaling pathway mitophagy - animal autophagy - animal th17 cell differentiation thyroid hormone signaling pathway kaposi sarcoma-associated herpesvirus infection pathways in cancer proteoglycans in cancer renal cell carcinoma central carbon metabolism in cancer choline metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer regulation of gene expression by hypoxia-inducible factor cellular response to hypoxia oxygen-dependent proline hydroxylation of hypoxia-inducible factor alpha cytokine signaling in immune system signaling by notch signal transduction immune system signaling by notch1 signaling by alk notch1 intracellular domain regulates transcription cellular responses to stress metabolism of proteins circadian clock signaling by interleukins deubiquitination ub-specific processing proteases post-translational protein modification interleukin-4 and interleukin-13 signaling signaling by ptk6 ptk6 expression ptk6 promotes hif1a stabilization neddylation cellular responses to stimuli signaling by non-receptor tyrosine kinases signaling by receptor tyrosine kinases stat3 nuclear events downstream of alk signaling angiogenesis age/rage pathway adipogenesis oncostatin m signaling pathway hif1a and pparg regulation of glycolysis vitamin d receptor pathway microrna for targeting cancer growth and vascularization in glioblastoma photodynamic therapy-induced hif-1 survival signaling nad metabolism, sirtuins and aging hepatitis c and hepatocellular carcinoma lncrna-mediated mechanisms of therapeutic resistance focal adhesion: pi3k-akt-mtor-signaling pathway clear cell renal cell carcinoma pathways hereditary leiomyomatosis and renal cell carcinoma pathway epithelial to mesenchymal transition in colorectal cancer type 2 papillary renal cell carcinoma neovascularisation processes 3q29 copy number variation syndrome angiotensin ii receptor type 1 pathway malignant pleural mesothelioma ccl18 signaling pathway congenital generalized lipodystrophy network map of sars-cov-2 signaling pathway th17 cell differentiation pathway modulation of pi3k-akt-mtor signaling by bioactive sphingolipids notch signaling pathway sudden infant death syndrome (sids) susceptibility pathways organ system cancer cell type cancer cardiovascular system disease disease of cellular proliferation cancer vascular disease urinary system disease kidney cancer carcinoma ischemia urinary system cancer disease renal cell carcinoma renal carcinoma kidney disease disease of anatomical entity tissues, cell types and enzyme sources animal alimentary canal male reproductive gland reproductive system male reproductive system female reproductive system cardiovascular system astrocytoma cell bronchoalveolar system brain embryonic structure carcinoma cell respiratory system central nervous system female reproductive gland head organism form digestive gland epithelioma cell epithelium respiratory epithelium fetus gland glioma cell gonad liver cancer cell adenocarcinoma cell hepatoma cell integument liver lung placenta vascular system blood vessel bronchus testis trachea uterus nervous system endocrine gland whole body viscus choriocarcinoma cell bronchial epithelium bronchial epithelial cell urogenital system internal male genital organ internal female genital organ vasculature microvessel ubiquitin ligase complex cytoplasmic ubiquitin ligase complex chromatin intracellular nucleus nucleoplasm chromosome cytoplasm cytosol nuclear body nuclear speck vcb complex membrane-enclosed lumen nuclear lumen protein-containing complex growth factor complex organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen intracellular organelle lumen cellular anatomical entity catalytic complex vegf-a complex transferase complex glucose transporter complex transporter complex cd40 ligand measurement inflammatory biomarker measurement acetylation activator alternative splicing dna-binding hydroxylation nucleus phosphoprotein repeat s-nitrosylation transcription transcription regulation ubl conjugation cytoplasm isopeptide bond hif-1 alpha c terminal transactivation domain hypoxia-inducible factor-1 pas domain hypoxia-inducible factor-1 alpha pac motif myc-type, basic helix-loop-helix (bhlh) domain pas fold-3 pas fold hif-1 alpha, transactivation domain, c-terminal hypoxia-inducible factor, alpha subunit-like pas domain superfamily helix-loop-helix dna-binding domain superfamily motif c-terminal to pas motifs (likely to contribute to pas structural domain) pas domain helix loop helix domain cellular glucose homeostasis regulation of cytokine production positive regulation of cytokine production immune system process regulation of immune system process positive regulation of immune system process regulation of immune effector process positive regulation of immune effector process regulation of production of molecular mediator of immune response positive regulation of production of molecular mediator of immune response regulation of cytokine production involved in immune response positive regulation of cytokine production involved in immune response carbohydrate metabolic process monosaccharide metabolic process fructose 6-phosphate metabolic process glucose metabolic process glucose catabolic process mannose metabolic process organic acid metabolic process pyruvate metabolic process generation of precursor metabolites and energy glycolytic process nucleobase-containing compound metabolic process purine nucleotide metabolic process nucleoside diphosphate phosphorylation cellular aromatic compound metabolic process nadh metabolic process nadh regeneration nucleoside phosphate metabolic process atp generation from adp phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process response to stress defense response inflammatory response immune response protein localization metabolic process catabolic process nucleotide metabolic process nucleoside diphosphate metabolic process purine nucleoside diphosphate metabolic process nucleoside triphosphate metabolic process purine nucleoside triphosphate metabolic process purine ribonucleotide metabolic process purine ribonucleoside diphosphate metabolic process ribonucleoside diphosphate metabolic process ribonucleoside triphosphate metabolic process purine ribonucleoside triphosphate metabolic process ribonucleotide metabolic process response to external stimulus response to biotic stimulus positive regulation of metabolic process cellular process regulation of gene expression positive regulation of macromolecule metabolic process positive regulation of gene expression carbohydrate catabolic process phosphorylation regulation of metabolic process hexose metabolic process hexose catabolic process organophosphate metabolic process nad metabolic process ribose phosphate metabolic process cellular homeostasis carboxylic acid metabolic process maintenance of protein location in cell regulation of interleukin-1 beta production regulation of interleukin-1 production positive regulation of interleukin-1 beta production positive regulation of interleukin-1 production monocarboxylic acid metabolic process macromolecule localization protein localization to organelle carbohydrate homeostasis cellular nitrogen compound metabolic process homeostatic process glucose homeostasis response to external biotic stimulus oxoacid metabolic process cellular metabolic process primary metabolic process cellular carbohydrate metabolic process small molecule metabolic process small molecule catabolic process biological process involved in interspecies interaction between organisms innate immune response establishment of protein localization maintenance of protein location adp metabolic process atp metabolic process monosaccharide catabolic process heterocycle metabolic process carbohydrate phosphorylation nucleotide phosphorylation positive regulation of biological process chemical homeostasis regulation of biological process response to stimulus glucose 6-phosphate metabolic process localization establishment of localization maintenance of location regulation of multicellular organismal process positive regulation of multicellular organismal process cellular localization maintenance of location in cell response to other organism cellular chemical homeostasis nucleobase-containing small molecule metabolic process regulation of macromolecule metabolic process glycolytic process through fructose-6-phosphate glycolytic process through glucose-6-phosphate canonical glycolysis glucose catabolic process to pyruvate biological regulation regulation of biological quality protein localization to mitochondrion cellular macromolecule localization organic substance metabolic process purine-containing compound metabolic process establishment of protein localization to organelle maintenance of protein localization in organelle establishment of protein localization to mitochondrion maintenance of protein location in mitochondrion defense response to other organism carbohydrate derivative metabolic process organic cyclic compound metabolic process organonitrogen compound metabolic process organic substance catabolic process nucleotide binding catalytic activity glucokinase activity hexokinase activity binding atp binding glucose binding glycosaminoglycan binding fructokinase activity kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding mannokinase activity carbohydrate kinase activity carbohydrate binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding peptidoglycan binding ion binding anion binding glucosamine kinase activity monosaccharide binding organic cyclic compound binding carbohydrate derivative binding nucleoside phosphate binding heterocyclic compound binding intracellular anatomical structure cytoplasm mitochondrion mitochondrial envelope mitochondrial outer membrane cytosol membrane outer membrane organelle membrane mitochondrial membrane organelle envelope organelle outer membrane envelope organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle membrane raft bounding membrane of organelle membrane microdomain cellular anatomical entity carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism glycolysis, and pentose-phosphate shunt glycolysis, and sugar-phosphatase activity fructose and mannose metabolism glycolysis / gluconeogenesis fructose and mannose metabolism galactose metabolism starch and sucrose metabolism amino sugar and nucleotide sugar metabolism neomycin, kanamycin and gentamicin biosynthesis metabolic pathways carbon metabolism hif-1 signaling pathway insulin signaling pathway type ii diabetes mellitus carbohydrate digestion and absorption shigellosis central carbon metabolism in cancer metabolism disease defective hk1 causes hexokinase deficiency (hk deficiency) slc transporter disorders disorders of transmembrane transporters glycolysis glucose metabolism metabolism of carbohydrates cori cycle photodynamic therapy-induced hif-1 survival signaling clear cell renal cell carcinoma pathways aerobic glycolysis glycogen synthesis and degradation glycolysis in senescence disorders of fructose metabolism glucose metabolism in triple-negative breast cancer cells metabolic reprogramming in pancreatic cancer lactate shuttle in glial cells glycolysis and gluconeogenesis glucuronidation sensory system disease retinitis pigmentosa charcot-marie-tooth disease neurodegenerative disease musculoskeletal system disease central nervous system disease disease neuromuscular disease eye disease retinal disease peripheral nervous system disease disease of anatomical entity retinal degeneration nervous system disease neuropathy eye degenerative disease tissues, cell types and enzyme sources animal reproductive system female reproductive system brain embryonic structure central nervous system head organism form embryo nervous system whole body urogenital system intracellular cytoplasm mitochondrion organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle cellular anatomical entity cardiovascular disease disease nervous system disease stroke cerebrovascular disorder eye color vascular disease anemia (phenotype) cardiovascular measurement erythrocyte count erythrocyte indices platelet count hematocrit ferritin measurement iron biomarker measurement glucose measurement hematological measurement hemoglobin measurement mean corpuscular volume mean corpuscular hemoglobin mean corpuscular hemoglobin concentration lipid measurement hba1c measurement glycoprotein measurement bilirubin measurement total cholesterol measurement complete blood cell count low density lipoprotein cholesterol measurement high density lipoprotein cholesterol measurement apolipoprotein b measurement lipoprotein measurement protein measurement platelet measurement erythrocyte measurement lipid or lipoprotein measurement red blood cell distribution width cardiovascular disease biomarker measurement brain disease diabetes mellitus biomarker hemoglobin a1 measurement red blood cell density measurement platelet crit reticulocyte count central nervous system disease hemolysis reticulocyte measurement mean reticulocyte volume cardioembolic stroke abnormality of body height phenotypic abnormality abnormality of head or neck abnormality of the mouth abnormal lip morphology abnormal oral cavity morphology abnormality of the dentition abnormal upper lip morphology thin upper lip vermilion thin vermilion border abnormality of the head abnormality of the face epicanthus abnormality of the forehead abnormality of facial musculature abnormal midface morphology abnormality of the orbital region hearing abnormality hearing impairment abnormality of the nose abnormal periauricular region morphology bulbous nose abnormal morphology of the nasal alae abnormal nasal tip morphology anteverted nares abnormality of the neck torticollis abnormality of the eye abnormal retinal morphology abnormal cornea morphology astigmatism strabismus abnormal eyelid morphology abnormality of eye movement abnormality of vision visual impairment rod-cone dystrophy abnormality of refraction optic disc pallor retinal degeneration abnormal conjugate eye movement retinal dystrophy abnormality of the optic nerve abnormality of the ear macular degeneration photophobia nystagmus optic atrophy nyctalopia widely spaced teeth tooth malposition abnormality of the nervous system behavioral abnormality delayed speech and language development abnormal peripheral nervous system morphology decreased nerve conduction velocity peripheral axonal degeneration abnormality of the skeletal system abnormality of the vertebral column abnormal skull morphology abnormality of the skin jaundice dermatological manifestations of systemic disorders cholelithiasis cholecystitis abnormal fundus morphology abnormal macular morphology retinal atrophy visual field defect constriction of peripheral visual field abnormality of the hand intellectual disability seizure ataxia hypotonia global developmental delay hyporeflexia motor delay cerebellar atrophy abnormal corpus callosum morphology hypertonia bulbar palsy areflexia gait disturbance abnormal cranial nerve morphology abnormal nervous system electrophysiology reduced tendon reflexes abnormal cerebellum morphology muscle weakness dystonia abnormal joint morphology joint dislocation abnormal hip joint morphology abnormality of the liver cholestasis abnormal abdomen morphology abnormality of the musculature of the upper limbs growth abnormality growth delay abnormality of the integument abnormality of the cardiovascular system abnormality of the spleen splenomegaly abnormal foot morphology pes cavus talipes equinovarus pes planus abnormality of blood and blood-forming tissues abnormal erythrocyte morphology hemolytic anemia talipes normochromic anemia normocytic anemia anemia reticulocytosis nonspherocytic hemolytic anemia abnormality of metabolism/homeostasis frontal bossing morphological central nervous system abnormality abnormality of the abdominal organs abnormal cerebral morphology hypoplasia of the corpus callosum abnormality of the respiratory system abnormal lung morphology abnormal cerebral ventricle morphology ventriculomegaly gait imbalance neurological speech impairment delayed gross motor development leukoencephalopathy difficulty walking distal muscle weakness language impairment impaired vibratory sensation abnormal cerebral white matter morphology loss of ambulation limb hypertonia abnormal periventricular white matter morphology inability to walk abnormality of the vasculature abnormal pelvic girdle bone morphology scoliosis abnormal calvaria morphology abnormality of the immune system abnormal tracheal morphology tracheomalacia abnormality of the lower limb abnormality of the upper limb hip dislocation hyperbilirubinemia distal sensory impairment aplasia/hypoplasia involving the central nervous system abnormality of the musculature abnormal peripheral myelination abnormality of peripheral nerve conduction skeletal muscle atrophy visceromegaly abnormal hip bone morphology decreased number of peripheral myelinated nerve fibers decreased number of large peripheral myelinated nerve fibers decreased motor nerve conduction velocity axonal regeneration paralysis somatic sensory dysfunction peripheral axonal neuropathy limb muscle weakness distal amyotrophy proximal muscle weakness abnormal muscle tone abnormality of the biliary system functional motor deficit abnormal reticulocyte morphology short stature abnormal anterior eye segment morphology abnormal posterior eye segment morphology abnormal circulating carboxylic acid concentration abnormal circulating nitrogen compound concentration focal dystonia abnormal cheek morphology preauricular pit abnormal nasal morphology abnormality of the synovia abnormality of the gallbladder abnormal nostril morphology flat occiput abnormal tracheobronchial morphology positional foot deformity cranial nerve paralysis periventricular leukomalacia obsolete distal sensory loss of all modalities decreased amplitude of sensory action potentials demyelinating peripheral neuropathy peripheral hypomyelination lower limb amyotrophy decreased distal sensory nerve action potential impaired pain sensation lower limb muscle weakness aplasia/hypoplasia of the cerebrum aplasia/hypoplasia of the corpus callosum macular atrophy reduced visual acuity pes valgus laryngotracheomalacia axial hypotonia distal upper limb muscle weakness distal lower limb muscle weakness abnormal axial skeleton morphology abnormality of the musculature of the limbs upper limb amyotrophy peripheral neuropathy facial palsy abnormality of the curvature of the vertebral column abnormality of the seventh cranial nerve impaired tactile sensation impaired proprioception abnormality of pain sensation abnormal external nose morphology anemia of inadequate production abnormal cerebral subcortex morphology abnormal circulating dicarboxylic acid concentration abnormal morphology of the musculature of the neck peripheral demyelination epileptic spasm abnormality of skin morphology abnormal shape of the occiput abnormal shape of the frontal region abnormal hindbrain morphology abnormal metencephalon morphology abnormality of upper lip vermillion generalized abnormality of skin localized skin lesion abnormal central motor function abnormality of coordination abnormality of higher mental function abdominal symptom abnormality of facial soft tissue abnormal muscle physiology abnormal skeletal muscle morphology abnormal skeletal morphology abnormal appendicular skeleton morphology anemia due to reduced life span of red cells respiratory tract infection feeding difficulties motor conduction block craniofacial dystonia abnormal respiratory system morphology abnormal occipital bone morphology abnormal eye morphology abnormal eye physiology abnormal gallbladder morphology abnormal gallbladder physiology abnormality of brain morphology abnormal myelination infantile spasms abnormal involuntary eye movements abnormal nervous system physiology abnormal nervous system morphology neurodevelopmental delay neurodevelopmental abnormality abnormal optic disc morphology unilateral facial palsy motor seizure abnormality of the digestive system abnormality of digestive system physiology delayed ability to sit abnormal spleen morphology abnormal neck morphology abnormality of peripheral nervous system electrophysiology abnormal peripheral action potential amplitude abnormality of muscle size lower extremity joint dislocation weakness of facial musculature abnormal ocular adnexa morphology abnormal ear physiology abnormal oral morphology abnormal reflex abnormal cranial nerve physiology delayed ability to walk abnormality of the ocular adnexa abnormal peripheral nervous system physiology abnormal circulating metabolite concentration abnormality of the musculoskeletal system abnormal circulating bilirubin concentration thin corpus callosum abnormal exteroceptive sensation abnormality of limbs abnormal nerve conduction velocity abnormal motor nerve conduction velocity abnormality of peripheral nerves abnormality of movement skin pit periauricular skin pits abnormality of lower limb joint cognitive impairment abnormal forebrain morphology abnormality of the curvature of the cornea cerebral visual impairment abnormality of the lymphatic system abnormality of the peripheral nervous system abnormal frontal bone morphology neurovascular disorder acetylation allosteric enzyme alternative splicing atp-binding charcot-marie-tooth disease glycolysis immunity inflammatory response innate immunity kinase membrane mitochondrion neurodegeneration nucleotide-binding phosphoprotein neuropathy repeat retinitis pigmentosa transferase cytoplasm mitochondrion outer membrane hexokinase hexokinase hexokinase hexokinase, binding site hexokinase, n-terminal hexokinase, c-terminal atpase, nucleotide binding domain response to hypoxia cellular glucose homeostasis response to ischemia carbohydrate metabolic process monosaccharide metabolic process fructose 6-phosphate metabolic process glucose metabolic process glucose catabolic process organic acid metabolic process pyruvate metabolic process generation of precursor metabolites and energy glycolytic process nucleobase-containing compound metabolic process purine nucleotide metabolic process nucleoside diphosphate phosphorylation cellular aromatic compound metabolic process nadh metabolic process nadh regeneration nucleoside phosphate metabolic process atp generation from adp phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process transport mitochondrial transport apoptotic process response to stress organelle organization mitochondrion organization mitochondrial membrane organization body fluid secretion lactation protein localization metabolic process cell death apoptotic mitochondrial changes catabolic process nucleotide metabolic process nucleoside diphosphate metabolic process purine nucleoside diphosphate metabolic process nucleoside triphosphate metabolic process purine nucleoside triphosphate metabolic process purine ribonucleotide metabolic process purine ribonucleoside diphosphate metabolic process ribonucleoside diphosphate metabolic process ribonucleoside triphosphate metabolic process purine ribonucleoside triphosphate metabolic process ribonucleotide metabolic process response to abiotic stimulus negative regulation of metabolic process cellular process response to organic substance regulation of glucose transmembrane transport programmed cell death cellular component organization carbohydrate catabolic process phosphorylation regulation of metabolic process hexose metabolic process hexose catabolic process organophosphate metabolic process nad metabolic process ribose phosphate metabolic process cellular homeostasis carboxylic acid metabolic process regulation of anatomical structure morphogenesis mammary gland development regulation of cellular metabolic process negative regulation of cellular metabolic process developmental process maintenance of protein location in cell monocarboxylic acid metabolic process regulation of localization macromolecule localization protein localization to organelle carbohydrate homeostasis cellular response to stress response to cytokine cellular nitrogen compound metabolic process regulation of transmembrane transport negative regulation of mitochondrial membrane permeability response to decreased oxygen levels response to chemical homeostatic process glucose homeostasis oxoacid metabolic process cellular metabolic process primary metabolic process cellular carbohydrate metabolic process small molecule metabolic process small molecule catabolic process establishment of protein localization maintenance of protein location regulation of angiogenesis positive regulation of angiogenesis adp metabolic process atp metabolic process regulation of glucose import monosaccharide catabolic process heterocycle metabolic process carbohydrate phosphorylation regulation of mitochondrial membrane permeability secretion intracellular transport nucleotide phosphorylation animal organ development positive regulation of biological process negative regulation of biological process negative regulation of cellular process gland development anatomical structure development chemical homeostasis regulation of biological process regulation of developmental process regulation of cellular process regulation of body fluid levels response to stimulus regulation of transport positive regulation of developmental process glucose 6-phosphate metabolic process localization establishment of localization maintenance of location regulation of multicellular organismal process positive regulation of multicellular organismal process cellular localization establishment of localization in cell maintenance of location in cell cellular response to stimulus cellular chemical homeostasis nucleobase-containing small molecule metabolic process membrane organization glycolytic process through fructose-6-phosphate glycolytic process through glucose-6-phosphate canonical glycolysis glucose catabolic process to pyruvate biological regulation regulation of biological quality response to oxygen levels protein localization to mitochondrion cellular macromolecule localization cellular response to chemical stimulus cellular response to organic substance cellular response to cytokine stimulus organic substance metabolic process cellular component organization or biogenesis purine-containing compound metabolic process establishment of protein localization to organelle maintenance of protein localization in organelle establishment of protein localization to mitochondrion maintenance of protein location in mitochondrion regulation of membrane permeability response to mitochondrial depolarisation carbohydrate derivative metabolic process regulation of vasculature development organic cyclic compound metabolic process organonitrogen compound metabolic process organic substance catabolic process positive regulation of vasculature development regulation of autophagy of mitochondrion in response to mitochondrial depolarization positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization negative regulation of membrane permeability response to leukemia inhibitory factor cellular response to leukemia inhibitory factor regulation of multicellular organismal development regulation of reactive oxygen species metabolic process negative regulation of reactive oxygen species metabolic process nucleotide binding catalytic activity glucokinase activity hexokinase activity binding atp binding glucose binding fructokinase activity kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding carbohydrate kinase activity carbohydrate binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding ion binding anion binding monosaccharide binding organic cyclic compound binding carbohydrate derivative binding nucleoside phosphate binding heterocyclic compound binding intracellular anatomical structure cytoplasm mitochondrion mitochondrial envelope mitochondrial outer membrane endoplasmic reticulum centrosome microtubule organizing center cytosol cytoskeleton plasma membrane endomembrane system microtubule cytoskeleton membrane sarcoplasm sarcoplasmic reticulum outer membrane organelle membrane mitochondrial membrane organelle envelope organelle outer membrane envelope organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle cell periphery bounding membrane of organelle cellular anatomical entity carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism glycolysis, and pentose-phosphate shunt glycolysis, and sugar-phosphatase activity fructose and mannose metabolism fructose 2,6-bisphosphate metabolic process, and glycogen storage disease vii glycolysis / gluconeogenesis fructose and mannose metabolism galactose metabolism starch and sucrose metabolism amino sugar and nucleotide sugar metabolism neomycin, kanamycin and gentamicin biosynthesis metabolic pathways carbon metabolism hif-1 signaling pathway insulin signaling pathway type ii diabetes mellitus carbohydrate digestion and absorption shigellosis central carbon metabolism in cancer metabolism glycolysis glucose metabolism metabolism of carbohydrates clear cell renal cell carcinoma pathways glycogen synthesis and degradation metabolic reprogramming in pancreatic cancer glycolysis and gluconeogenesis tissues, cell types and enzyme sources animal male reproductive gland reproductive system male reproductive system female reproductive system blood embryonic structure female reproductive gland organism form gland gonad hematopoietic system muscle skeletal muscle testis vertebrate muscular system muscular system skeletal system endocrine gland whole body urogenital system internal male genital organ internal female genital organ intracellular cytoplasm mitochondrion mitochondrial envelope mitochondrial outer membrane cytosol membrane outer membrane organelle membrane mitochondrial membrane organelle envelope organelle outer membrane envelope protein-containing complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle transferase complex, transferring phosphorus-containing groups bounding membrane of organelle cellular anatomical entity catalytic complex pyruvate kinase complex transferase complex glucose transporter complex transporter complex anthropometric measurement femoral neck bone geometry bone measurement bone geometry bone fracture related measurement acetylation allosteric enzyme atp-binding glycolysis kinase membrane mitochondrion nucleotide-binding repeat transferase cytoplasm mitochondrion outer membrane hexokinase hexokinase hexokinase hexokinase, binding site hexokinase, n-terminal hexokinase, c-terminal atpase, nucleotide binding domain cellular glucose homeostasis carbohydrate metabolic process monosaccharide metabolic process fructose 6-phosphate metabolic process glucose metabolic process glucose catabolic process organic acid metabolic process pyruvate metabolic process generation of precursor metabolites and energy glycolytic process nucleobase-containing compound metabolic process purine nucleotide metabolic process nucleoside diphosphate phosphorylation cellular aromatic compound metabolic process nadh metabolic process nadh regeneration nucleoside phosphate metabolic process atp generation from adp phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process metabolic process catabolic process nucleotide metabolic process nucleoside diphosphate metabolic process purine nucleoside diphosphate metabolic process nucleoside triphosphate metabolic process purine nucleoside triphosphate metabolic process purine ribonucleotide metabolic process purine ribonucleoside diphosphate metabolic process ribonucleoside diphosphate metabolic process ribonucleoside triphosphate metabolic process purine ribonucleoside triphosphate metabolic process ribonucleotide metabolic process cellular process carbohydrate catabolic process phosphorylation hexose metabolic process hexose catabolic process organophosphate metabolic process nad metabolic process ribose phosphate metabolic process cellular homeostasis carboxylic acid metabolic process monocarboxylic acid metabolic process carbohydrate homeostasis cellular nitrogen compound metabolic process homeostatic process glucose homeostasis oxoacid metabolic process cellular metabolic process primary metabolic process cellular carbohydrate metabolic process small molecule metabolic process small molecule catabolic process adp metabolic process atp metabolic process monosaccharide catabolic process heterocycle metabolic process carbohydrate phosphorylation nucleotide phosphorylation chemical homeostasis glucose 6-phosphate metabolic process cellular chemical homeostasis nucleobase-containing small molecule metabolic process glycolytic process through fructose-6-phosphate glycolytic process through glucose-6-phosphate canonical glycolysis glucose catabolic process to pyruvate biological regulation regulation of biological quality organic substance metabolic process purine-containing compound metabolic process carbohydrate derivative metabolic process organic cyclic compound metabolic process organonitrogen compound metabolic process organic substance catabolic process nucleotide binding catalytic activity glucokinase activity hexokinase activity binding atp binding glucose binding fructokinase activity kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding carbohydrate kinase activity carbohydrate binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding ion binding anion binding monosaccharide binding organic cyclic compound binding carbohydrate derivative binding nucleoside phosphate binding heterocyclic compound binding extracellular region intracellular anatomical structure cytoplasm mitochondrion cytosol endomembrane system secretory granule cytoplasmic vesicle membrane-enclosed lumen vesicle vesicle lumen secretory granule lumen organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen cytoplasmic vesicle lumen intracellular organelle lumen intracellular vesicle secretory vesicle ficolin-1-rich granule cellular anatomical entity ficolin-1-rich granule lumen carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism glycolysis, and pentose-phosphate shunt glycolysis, and sugar-phosphatase activity fructose and mannose metabolism glycolysis / gluconeogenesis fructose and mannose metabolism galactose metabolism starch and sucrose metabolism amino sugar and nucleotide sugar metabolism neomycin, kanamycin and gentamicin biosynthesis metabolic pathways carbon metabolism hif-1 signaling pathway insulin signaling pathway type ii diabetes mellitus carbohydrate digestion and absorption shigellosis central carbon metabolism in cancer metabolism innate immune system immune system neutrophil degranulation glycolysis glucose metabolism metabolism of carbohydrates clear cell renal cell carcinoma pathways pi3k/akt/mtor - vitamin d3 signaling metabolic reprogramming in colon cancer glycogen synthesis and degradation glycolysis and gluconeogenesis tissues, cell types and enzyme sources animal blood hematopoietic system whole body intracellular cytoplasm endomembrane system secretory granule cytoplasmic vesicle membrane-enclosed lumen vesicle organelle membrane-bounded organelle intracellular organelle organelle lumen intracellular organelle lumen intracellular vesicle secretory vesicle ficolin-1-rich granule cellular anatomical entity ficolin-1-rich granule lumen self reported educational attainment educational attainment allosteric enzyme atp-binding glycolysis kinase nucleotide-binding repeat transferase hexokinase hexokinase hexokinase hexokinase, binding site hexokinase, n-terminal hexokinase, c-terminal atpase, nucleotide binding domain cellular glucose homeostasis carbohydrate metabolic process monosaccharide metabolic process glucose metabolic process organic acid metabolic process pyruvate metabolic process generation of precursor metabolites and energy glycolytic process nucleobase-containing compound metabolic process purine nucleotide metabolic process nucleoside diphosphate phosphorylation cellular aromatic compound metabolic process nucleoside phosphate metabolic process atp generation from adp phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process metabolic process catabolic process nucleotide metabolic process nucleoside diphosphate metabolic process purine nucleoside diphosphate metabolic process nucleoside triphosphate metabolic process purine nucleoside triphosphate metabolic process purine ribonucleotide metabolic process purine ribonucleoside diphosphate metabolic process ribonucleoside diphosphate metabolic process ribonucleoside triphosphate metabolic process purine ribonucleoside triphosphate metabolic process ribonucleotide metabolic process cellular process carbohydrate catabolic process phosphorylation hexose metabolic process organophosphate metabolic process ribose phosphate metabolic process cellular homeostasis carboxylic acid metabolic process monocarboxylic acid metabolic process carbohydrate homeostasis cellular nitrogen compound metabolic process homeostatic process glucose homeostasis oxoacid metabolic process cellular metabolic process primary metabolic process cellular carbohydrate metabolic process small molecule metabolic process adp metabolic process atp metabolic process heterocycle metabolic process carbohydrate phosphorylation nucleotide phosphorylation chemical homeostasis glucose 6-phosphate metabolic process cellular chemical homeostasis nucleobase-containing small molecule metabolic process biological regulation regulation of biological quality organic substance metabolic process purine-containing compound metabolic process carbohydrate derivative metabolic process organic cyclic compound metabolic process organonitrogen compound metabolic process organic substance catabolic process nucleotide binding catalytic activity glucokinase activity hexokinase activity binding atp binding glucose binding fructokinase activity kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding carbohydrate kinase activity carbohydrate binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding ion binding anion binding monosaccharide binding organic cyclic compound binding carbohydrate derivative binding nucleoside phosphate binding heterocyclic compound binding intracellular anatomical structure cytoplasm mitochondrion mitochondrial envelope cytosol membrane organelle membrane mitochondrial membrane organelle envelope envelope organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle cellular anatomical entity carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism glycolysis, and pentose-phosphate shunt glycolysis, and sugar-phosphatase activity fructose and mannose metabolism glycolysis / gluconeogenesis fructose and mannose metabolism galactose metabolism starch and sucrose metabolism amino sugar and nucleotide sugar metabolism neomycin, kanamycin and gentamicin biosynthesis metabolic pathways carbon metabolism hif-1 signaling pathway insulin signaling pathway type ii diabetes mellitus carbohydrate digestion and absorption shigellosis central carbon metabolism in cancer glycogen synthesis and degradation sensory system disease retinitis pigmentosa disease eye disease retinal disease disease of anatomical entity retinal degeneration nervous system disease eye degenerative disease tissues, cell types and enzyme sources animal alimentary canal rectal cancer cell sense organ head digestive gland eye gastrointestinal tract gland ileal mucosa ileum integument intestinal mucosa intestine small intestine liver mucosa endocrine gland whole body viscus ileocecum intracellular cytoplasm mitochondrion organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle cellular anatomical entity pulmonary function measurement anthropometric measurement erythrocyte indices glucose tolerance test leukocyte count vital capacity body weights and measures body weight body height birth weight hematocrit glucose measurement hematological measurement hemoglobin measurement mean corpuscular volume mean corpuscular hemoglobin lipid measurement hba1c measurement glycoprotein measurement liver enzyme measurement complete blood cell count lymphocyte count sex hormone-binding globulin measurement hormone measurement serum alanine aminotransferase measurement aspartate aminotransferase measurement protein measurement testosterone measurement erythrocyte measurement lipid or lipoprotein measurement body height at birth diabetes mellitus biomarker infectious disease biomarker sex hormone measurement alternative splicing atp-binding glycolysis kinase membrane mitochondrion nucleotide-binding repeat transferase hexokinase hexokinase hexokinase hexokinase, binding site hexokinase, n-terminal hexokinase, c-terminal atpase, nucleotide binding domain mapk cascade response to protozoan regulation of cytokine production positive regulation of cytokine production regulation of protein phosphorylation positive regulation of protein phosphorylation adaptive immune response activation of immune response immune system process immune response-activating cell surface receptor signaling pathway adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains regulation of immune system process positive regulation of immune system process immune response-activating signal transduction immune response-regulating signaling pathway immune response-regulating cell surface receptor signaling pathway regulation of transcription, dna-templated regulation of transcription by rna polymerase ii transport endocytosis apoptotic process chemotaxis response to stress defense response immune response cell communication signal transduction cell surface receptor signaling pathway small gtpase mediated signal transduction ras protein signal transduction metabolic process cell death cell population proliferation positive regulation of cell population proliferation negative regulation of cell population proliferation response to radiation response to external stimulus response to biotic stimulus response to abiotic stimulus anatomical structure morphogenesis animal organ morphogenesis tissue development regulation of biosynthetic process positive regulation of biosynthetic process negative regulation of metabolic process positive regulation of metabolic process regulation of signal transduction positive regulation of signal transduction cellular process response to ionizing radiation response to gamma radiation regulation of gene expression regulation of phospholipase activity positive regulation of phospholipase activity regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process positive regulation of phosphorus metabolic process positive regulation of macromolecule metabolic process negative regulation of macromolecule metabolic process positive regulation of gene expression negative regulation of gene expression positive regulation of organelle organization regulation of cell communication positive regulation of cell communication positive regulation of phospholipase c activity regulation of cell death programmed cell death vesicle-mediated transport regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process regulation of signaling signaling positive regulation of signaling regulation of cell migration positive regulation of cell migration regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process regulation of cell projection organization positive regulation of cell projection organization regulation of protein modification process positive regulation of protein modification process regulation of intracellular transport positive regulation of intracellular transport developmental process regulation of interferon-gamma production positive regulation of interferon-gamma production regulation of stress-activated mapk cascade positive regulation of stress-activated mapk cascade regulation of localization regulation of protein localization regulation of actin cytoskeleton organization regulation of actin filament-based process regulation of organelle organization regulation of intracellular protein transport cellular response to stress positive regulation of kinase activity negative regulation of gtpase activity intracellular signal transduction locomotion regulation of locomotion positive regulation of locomotion t-helper 1 type immune response regulation of cell population proliferation response to chemical regulation of phosphorylation positive regulation of phosphorylation taxis defense response to protozoan regulation of apoptotic process negative regulation of apoptotic process regulation of programmed cell death negative regulation of programmed cell death positive regulation of catalytic activity negative regulation of catalytic activity regulation of gtpase activity response to external biotic stimulus regulation of map kinase activity positive regulation of map kinase activity regulation of mapk cascade positive regulation of mapk cascade regulation of neuron apoptotic process negative regulation of neuron apoptotic process positive regulation of gtpase activity regulation of kinase activity regulation of cellular component biogenesis positive regulation of cellular component biogenesis negative regulation of molecular function positive regulation of molecular function cellular metabolic process biological process involved in interspecies interaction between organisms regulation of protein kinase activity positive regulation of protein kinase activity positive regulation of transcription, dna-templated positive regulation of nucleobase-containing compound metabolic process positive regulation of phosphate metabolic process positive regulation of transcription by rna polymerase ii regulation of jnk cascade positive regulation of jnk cascade fibroblast proliferation regulation of fibroblast proliferation positive regulation of fibroblast proliferation regulation of synaptic plasticity regulation of neuronal synaptic plasticity regulation of long-term neuronal synaptic plasticity animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process regulation of response to stimulus positive regulation of response to stimulus anatomical structure development regulation of epithelial cell proliferation positive regulation of epithelial cell proliferation regulation of immune response positive regulation of immune response regulation of biological process regulation of catalytic activity regulation of cellular process modulation of chemical synaptic transmission antigen receptor-mediated signaling pathway t cell receptor signaling pathway response to stimulus regulation of transport positive regulation of transport regulation of cellular component organization positive regulation of cellular component organization regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process localization positive regulation of protein transport regulation of protein transport establishment of localization regulation of multicellular organismal process positive regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process regulation of rna metabolic process positive regulation of rna metabolic process regulation of hydrolase activity regulation of transferase activity positive regulation of hydrolase activity negative regulation of hydrolase activity positive regulation of transferase activity neuron apoptotic process regulation of cytoskeleton organization positive regulation of cytoskeleton organization response to other organism cellular response to stimulus regulation of cell cycle regulation of lipase activity positive regulation of lipase activity regulation of macromolecule metabolic process regulation of cellular localization regulation of cell projection assembly negative regulation of cell death adipose tissue development regulation of wound healing connective tissue development biological regulation regulation of biological quality regulation of molecular function regulation of establishment of protein localization regulation of stress-activated protein kinase signaling cascade positive regulation of stress-activated protein kinase signaling cascade regulation of erk1 and erk2 cascade positive regulation of erk1 and erk2 cascade neuron death cellular response to abiotic stimulus cellular response to radiation cellular response to ionizing radiation cellular response to gamma radiation regulation of protein serine/threonine kinase activity positive regulation of protein serine/threonine kinase activity regulation of primary metabolic process regulation of response to stress regulation of cellular response to stress positive regulation of wound healing regulation of protein targeting to membrane positive regulation of protein targeting to membrane positive regulation of intracellular protein transport cellular senescence apoptotic signaling pathway intrinsic apoptotic signaling pathway defense response to other organism regulation of neurotransmitter receptor localization to postsynaptic specialization membrane regulation of trans-synaptic signaling cellular response to environmental stimulus regulation of plasma membrane bounded cell projection assembly positive regulation of plasma membrane bounded cell projection assembly regulation of plasma membrane bounded cell projection organization regulation of ruffle assembly positive regulation of ruffle assembly regulation of phospholipase c activity regulation of neuron death negative regulation of neuron death regulation of protein localization to synapse regulation of intracellular signal transduction positive regulation of intracellular signal transduction positive regulation of rna biosynthetic process regulation of receptor localization to synapse regulation of response to wounding positive regulation of response to wounding regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription regulation of protein targeting positive regulation of protein localization regulation of protein localization to cell periphery positive regulation of establishment of protein localization regulation of protein localization to membrane positive regulation of protein localization to membrane regulation of cell motility positive regulation of cell motility regulation of actin cytoskeleton reorganization positive regulation of actin cytoskeleton reorganization regulation of mirna metabolic process positive regulation of mirna metabolic process regulation of rna biosynthetic process nucleotide binding catalytic activity gtpase activity g protein activity binding protein binding gtp binding protein c-terminus binding pyrophosphatase activity hydrolase activity hydrolase activity, acting on acid anhydrides hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides purine nucleotide binding nucleoside-triphosphatase activity guanyl nucleotide binding gdp binding ribonucleotide binding purine ribonucleotide binding guanyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding ion binding anion binding organic cyclic compound binding carbohydrate derivative binding molecular function regulator activity nucleoside phosphate binding heterocyclic compound binding golgi membrane intracellular anatomical structure nucleus nucleoplasm cytoplasm endoplasmic reticulum endoplasmic reticulum membrane golgi apparatus cytosol plasma membrane endomembrane system membrane cell junction organelle membrane membrane-enclosed lumen nuclear lumen organelle subcompartment protein-containing complex nuclear outer membrane-endoplasmic reticulum membrane network organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen synapse perinuclear region of cytoplasm intracellular organelle lumen cell periphery bounding membrane of organelle endoplasmic reticulum subcompartment glutamatergic synapse cellular anatomical entity catalytic complex gtpase complex mixed, incl. small gtpase, ras-type, and ras-like guanine nucleotide exchange factor, n-terminal mixed, incl. signalling to erks, and ras gtpase-activating protein mixed, incl. inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and ras gtpase-activating protein mixed, incl. inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and cardiofaciocutaneous syndrome inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and cardiofaciocutaneous syndrome negative feedback regulation of mapk pathway, and ras gtpase cycle mutants sos-mediated signalling, and plexiform neurofibroma egfr tyrosine kinase inhibitor resistance endocrine resistance mapk signaling pathway erbb signaling pathway ras signaling pathway rap1 signaling pathway chemokine signaling pathway foxo signaling pathway sphingolipid signaling pathway phospholipase d signaling pathway mitophagy - animal autophagy - animal endocytosis mtor signaling pathway pi3k-akt signaling pathway apoptosis longevity regulating pathway longevity regulating pathway - multiple species cellular senescence axon guidance vegf signaling pathway apelin signaling pathway focal adhesion gap junction signaling pathways regulating pluripotency of stem cells c-type lectin receptor signaling pathway jak-stat signaling pathway natural killer cell mediated cytotoxicity t cell receptor signaling pathway b cell receptor signaling pathway fc epsilon ri signaling pathway thermogenesis long-term potentiation neurotrophin signaling pathway cholinergic synapse serotonergic synapse long-term depression regulation of actin cytoskeleton insulin signaling pathway gnrh signaling pathway estrogen signaling pathway melanogenesis prolactin signaling pathway thyroid hormone signaling pathway oxytocin signaling pathway relaxin signaling pathway gnrh secretion age-rage signaling pathway in diabetic complications growth hormone synthesis, secretion and action alzheimer disease alcoholism salmonella infection hepatitis c hepatitis b human cytomegalovirus infection human papillomavirus infection human t-cell leukemia virus 1 infection kaposi sarcoma-associated herpesvirus infection human immunodeficiency virus 1 infection pathways in cancer viral carcinogenesis proteoglycans in cancer micrornas in cancer colorectal cancer renal cell carcinoma endometrial cancer glioma prostate cancer thyroid cancer melanoma bladder cancer chronic myeloid leukemia acute myeloid leukemia non-small cell lung cancer breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer choline metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer hemostasis neurotransmitter receptors and postsynaptic signal transmission transmission across chemical synapses neuronal system irs-mediated signalling sos-mediated signalling downstream signaling events of b cell receptor (bcr) activation of ras in b cells signaling by fgfr in disease signaling by erbb2 signaling by erbb2 in cancer constitutive signaling by ligand-responsive egfr cancer variants signaling by erbb4 shc1 events in erbb2 signaling shc1 events in erbb4 signaling developmental biology cytokine signaling in immune system adaptive immune system signaling by scf-kit signal transduction disease signaling by egfr in cancer signaling by ntrks signalling to ras innate immune system immune system p38mapk events signaling by egfr grb2 events in egfr signaling shc1 events in egfr signaling downstream signal transduction signaling by pdgf signaling by ntrk1 (trka) signalling to erks signaling by fgfr signaling by vegf grb2 events in erbb2 signaling cell surface interactions at the vascular wall tie2 signaling dap12 interactions egfr transactivation by gastrin signaling by type 1 insulin-like growth factor 1 receptor (igf1r) dap12 signaling igf1r signaling cascade irs-related events triggered by igf1r shc-related events triggered by igf1r fc epsilon receptor (fceri) signaling eph-ephrin signaling fceri mediated mapk activation signaling by gpcr ncam signaling for neurite out-growth gpcr downstream signalling ephb-mediated forward signaling g alpha (q) signalling events axon guidance post nmda receptor activation events vegfa-vegfr2 pathway creb1 phosphorylation through nmda receptor-mediated activation of ras signaling activation of nmda receptors and postsynaptic events ras activation upon ca2+ influx through nmda receptor vegfr2 mediated cell proliferation c-type lectin receptors (clrs) cd209 (dc-sign) signaling constitutive signaling by egfrviii signaling by egfrviii in cancer signaling by ligand-responsive egfr variants in cancer downstream signaling of activated fgfr1 shc-mediated cascade:fgfr1 frs-mediated fgfr1 signaling downstream signaling of activated fgfr2 shc-mediated cascade:fgfr2 frs-mediated fgfr2 signaling shc-mediated cascade:fgfr3 frs-mediated fgfr3 signaling downstream signaling of activated fgfr3 frs-mediated fgfr4 signaling downstream signaling of activated fgfr4 shc-mediated cascade:fgfr4 signaling by fgfr1 signaling by fgfr2 signaling by fgfr3 signaling by fgfr4 signaling by fgfr2 in disease signaling by fgfr4 in disease signaling by fgfr1 in disease signaling by fgfr3 in disease regulation of ras by gaps diseases of signal transduction by growth factor receptors and second messengers raf activation raf/map kinase cascade map2k and mapk activation negative regulation of mapk pathway mapk family signaling cascades mapk1/mapk3 signaling signaling by moderate kinase activity braf mutants signaling by high-kinase activity braf mutants signaling by ras mutants signaling by braf and raf1 fusions ras signaling downstream of nf1 loss-of-function variants paradoxical activation of raf signaling by kinase inactive braf oncogenic mapk signaling signaling by met insulin receptor signalling cascade signaling by insulin receptor gastrin-creb signalling pathway via pkc and mapk signaling by ptk6 ptk6 regulates rho gtpases, ras gtpase and map kinases met activates ras signaling esr-mediated signaling signaling by ntrk2 (trkb) signaling by erythropoietin signaling by non-receptor tyrosine kinases signaling by nuclear receptors signaling by receptor tyrosine kinases extra-nuclear estrogen signaling activated ntrk2 signals through ras erythropoietin activates ras activated ntrk2 signals through frs2 and frs3 signaling by ntrk3 (trkc) activated ntrk3 signals through ras flt3 signaling constitutive signaling by overexpressed erbb2 estrogen-stimulated signaling through prkcz ras processing ras gtpase cycle mutants signaling downstream of ras mutants signaling by raf1 mutants signaling by erbb2 kd mutants signaling by erbb2 ecd mutants signaling by erbb2 tmd/jmd mutants signaling by kit in disease signaling by phosphorylated juxtamembrane, extracellular and kinase domain kit mutants signaling by pdgfr in disease signaling by pdgfra transmembrane, juxtamembrane and kinase domain mutants signaling by pdgfra extracellular domain mutants nervous system development flt3 signaling in disease signaling by flt3 fusion proteins signaling by flt3 itd and tkd mutants signaling by ras gap mutants signaling by ras gtpase mutants signaling by the b cell receptor (bcr) integrin-mediated cell adhesion thyroid stimulating hormone (tsh) signaling pathway leptin signaling pathway prolactin signaling pathway alzheimers disease and mirna effects glioblastoma signaling pathways androgen receptor network in prostate cancer rala downstream regulated genes b cell receptor signaling pathway tnf-alpha signaling pathway interleukin-11 signaling pathway oncostatin m signaling pathway brain-derived neurotrophic factor (bdnf) signaling pathway alpha 6 beta 4 signaling pathway pdgf pathway aryl hydrocarbon receptor pathway nanoparticle-mediated activation of receptor signaling bladder cancer il-3 signaling pathway extracellular vesicle-mediated signaling in recipient cells kit receptor signaling pathway focal adhesion hepatocyte growth factor receptor signaling rac1/pak1/p38/mmp2 pathway g protein signaling pathways pathways affected in adenoid cystic carcinoma bdnf-trkb signaling mapk signaling pathway pi3k-akt-mtor signaling pathway and therapeutic opportunities erk pathway in huntingtons disease vegfa-vegfr2 signaling angiopoietin-like protein 8 regulatory pathway chemokine signaling pathway embryonic stem cell pluripotency pathways focal adhesion: pi3k-akt-mtor-signaling pathway pdgfr-beta pathway p38 mapk signaling pathway endometrial cancer pi3k-akt signaling pathway met in type 1 papillary renal cell carcinoma mapk cascade ras signaling epithelial to mesenchymal transition in colorectal cancer non-small cell lung cancer breast cancer pathway inhibition of exosome biogenesis and secretion by manumycin a in crpc cells thermogenesis non-genomic actions of 1,25 dihydroxyvitamin d3 egf/egfr signaling pathway relationship between inflammation, cox-2 and egfr envelope proteins and their potential roles in edmd physiopathology synaptic signaling pathways associated with autism spectrum disorder hippo-merlin signaling dysregulation gastrin signaling pathway hepatitis b infection head and neck squamous cell carcinoma melanoma thyroid hormones production and peripheral downstream signaling effects egfr tyrosine kinase inhibitor resistance insulin signaling tgf-beta receptor signaling in skeletal dysplasias kisspeptin/kisspeptin receptor system in the ovary il-2 signaling pathway malignant pleural mesothelioma t-cell activation sars-cov-2 prostaglandin and leukotriene metabolism in senescence  alzheimers disease lipid metabolism in senescent cells prostaglandin and leukotriene metabolism in senescence  fatty acids and lipoproteins transport in hepatocytes tgf-beta receptor signaling erbb signaling pathway t-cell receptor signaling pathway dna damage response (only atm dependent) serotonin receptor 2 and elk-srf/gata4 signaling monogenic disease costello syndrome organ system cancer cell type cancer autosomal dominant disease autosomal genetic disease benign neoplasm cell type benign neoplasm organ system benign neoplasm integumentary system benign neoplasm rasopathy epidermal nevus linear nevus sebaceous syndrome urinary bladder cancer head and neck cancer squamous cell papilloma disease of cellular proliferation head and neck carcinoma integumentary system disease cancer squamous cell carcinoma urinary system disease syndrome papilloma carcinoma skin benign neoplasm skin papilloma bladder disease skin disease urinary system cancer disease head and neck squamous cell carcinoma genetic disease disease of anatomical entity tissues, cell types and enzyme sources animal brain cervical carcinoma cell liver cell line central nervous system head fibroblast cell line lung cancer cell embryonic cell line nih-3t3 cell nervous system whole body embryonic fibroblast cell line oc/cde22 cell golgi membrane intracellular nucleus nucleoplasm cytoplasm endoplasmic reticulum endoplasmic reticulum membrane golgi apparatus cytosol plasma membrane endomembrane system membrane cell junction organelle membrane membrane-enclosed lumen nuclear lumen organelle subcompartment protein-containing complex nuclear outer membrane-endoplasmic reticulum membrane network organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen synapse perinuclear region of cytoplasm intracellular organelle lumen cell periphery bounding membrane of organelle endoplasmic reticulum subcompartment glutamatergic synapse cellular anatomical entity catalytic complex gtpase complex cardiovascular disease disease heart disease heart valve disease mitral valve disease abnormality of body height cryptorchidism abnormality of male external genitalia abnormal testis morphology hypogonadotropic hypogonadism abnormality of the kidney abnormality of the genital system abnormality of the urinary system abnormality of reproductive system physiology renal insufficiency horseshoe kidney tall stature phenotypic abnormality abnormality of the genitourinary system hypogonadism abnormality of head or neck abnormality of the mouth abnormality of the tongue macroglossia abnormal lip morphology abnormal oral cavity morphology abnormality of the dentition abnormal palate morphology abnormal upper lip morphology abnormal lower lip morphology thick lower lip vermilion narrow palate open mouth high palate everted lower lip vermilion abnormality of the head abnormality of the fontanelles or cranial sutures abnormality of the anterior fontanelle hydrocephalus large fontanelles abnormality of skull size macrocephaly wide anterior fontanel cranial asymmetry prominent occiput abnormality of the face abnormal mandible morphology coarse facial features epicanthus abnormality of the philtrum abnormality of the forehead full cheeks abnormality of the chin pointed chin abnormal midface morphology round face abnormality of the orbital region hypertelorism facial asymmetry triangular face abnormality of the maxilla broad forehead long philtrum micrognathia high forehead abnormality of the outer ear abnormal location of ears posteriorly rotated ears abnormality of the inner ear abnormal earlobe morphology hearing abnormality hearing impairment abnormality of the nose low-set, posteriorly rotated ears low-set ears abnormal pinna morphology thickened helices sensorineural hearing impairment narrow nasal ridge abnormal nasal bridge morphology abnormal morphology of the nasal alae abnormal nasal tip morphology broad nasal tip anteverted nares abnormality of the neck webbed neck short neck thickened nuchal skin fold cystic hygroma abnormality of the eye abnormal cornea morphology strabismus abnormal eyelid morphology downslanted palpebral fissures abnormality of eye movement abnormality of vision telecanthus ptosis proptosis abnormality iris morphology abnormal conjugate eye movement abnormal uvea morphology keratoconus microphthalmia coloboma ophthalmoparesis abnormality of the ear ophthalmoplegia abnormality of the periorbital region iris coloboma periorbital fullness nystagmus abnormal dental enamel morphology abnormality of the nervous system behavioral abnormality abnormal peripheral nervous system morphology abnormal thorax morphology abnormal sternum morphology pectus excavatum pectus carinatum abnormality of the breast abnormal external genitalia abnormality of the endocrine system abnormality of the thyroid gland precocious puberty abnormality of the skeletal system abnormality of the vertebral column abnormality of skeletal maturation abnormal skull morphology abnormal posterior cranial fossa morphology osteopenia abnormality of the skin hyperpigmentation of the skin acanthosis nigricans hyperkeratosis edema cutis laxa pruritus melanocytic nevus abnormality of skin pigmentation lymphedema hirsutism hypopigmentation of the skin abnormal palmar dermatoglyphics hemangioma cavernous hemangioma hypopigmented skin patches numerous nevi thickened skin abnormality of the hand brachydactyly abnormality of finger hyperextensibility of the finger joints ulnar deviation of the hand or of fingers of the hand abnormality of prenatal development or birth abnormal fingernail morphology intellectual disability seizure hypotonia dysarthria global developmental delay abnormal corpus callosum morphology abnormal cranial nerve morphology dandy-walker malformation abnormal nervous system electrophysiology reduced tendon reflexes abnormal cerebellum morphology cerebellar vermis hypoplasia cerebellar hypoplasia muscle weakness hyperreflexia megalencephaly plagiocephaly abnormal joint morphology flexion contracture limitation of joint mobility joint hypermobility abnormality of the liver abnormal abdomen morphology subcutaneous nodule growth abnormality failure to thrive growth delay hemihypertrophy failure to thrive in infancy abnormal rib cage morphology overgrowth barrel-shaped chest abnormality of the amniotic fluid polyhydramnios abnormality of the integument redundant skin abnormal hair morphology alopecia abnormality of the nail concave nail abnormality of the voice hoarse voice premature birth abnormality of the cardiovascular system abnormal heart morphology ventricular septal defect atrial septal defect abnormal mitral valve morphology mitral valve prolapse abnormal myocardium morphology cardiomyopathy hypertrophic cardiomyopathy abnormal pulmonary valve morphology pulmonic stenosis abnormal heart valve morphology abnormal cardiac septum morphology abnormal aortic morphology coarctation of aorta sudden death abnormal cardiac ventricle morphology abnormality of the spleen abnormal foot morphology talipes equinovarus achilles tendon contracture abnormality of toe small nail hypoplastic toenails fragile nails deep-set nails thin nail deep plantar creases abnormality of blood and blood-forming tissues abnormality of thrombocytes talipes abnormal bleeding abnormality of coagulation abnormality of metabolism/homeostasis hypoglycemia abnormal scalp morphology abnormal facial shape deep philtrum frontal bossing morphological central nervous system abnormality abnormality of the abdominal organs gastroesophageal reflux pyloric stenosis poor suck cerebral atrophy abnormal cerebral morphology abnormality of the respiratory system abnormal lung morphology respiratory insufficiency abnormal pleura morphology apnea pneumothorax abnormal cerebral ventricle morphology ventriculomegaly cerebral cortical atrophy porencephalic cyst hypophosphatemia low posterior hairline nail dysplasia neurological speech impairment dilated fourth ventricle coarse hair curly hair woolly hair generalized hirsutism hepatomegaly chiari malformation abnormal cerebellar vermis morphology cerebellar cyst eeg abnormality sleep disturbance cerebellar malformation abnormal cerebral white matter morphology cerebral calcification abnormal cerebral cortex morphology abnormal stomach morphology abnormality of the vasculature scoliosis increased susceptibility to fractures neoplasm basal cell carcinoma abnormal calvaria morphology abnormality of the skull base abnormality of the immune system rickets delayed skeletal maturation kyphoscoliosis recurrent fractures abnormal tracheal morphology tracheomalacia bronchomalacia abnormal pattern of respiration abnormal respiratory system physiology kyphosis abnormality of limb bone morphology abnormality of the lower limb abnormality of the knee genu recurvatum abnormality of the upper limb abnormal morphology of the radius rhabdomyosarcoma melanoma bladder carcinoma obstructive sleep apnea thyroid carcinoma papillary thyroid carcinoma abnormal cerebrospinal fluid morphology abnormal forearm morphology radioulnar synostosis aplasia/hypoplasia involving the central nervous system limited elbow movement abnormality of the musculature hyperphosphaturia abnormality of urine homeostasis abnormal blood ion concentration limb joint contracture short nose visceromegaly abnormality of the cervical spine abnormal bone structure vertebral segmentation defect abnormal vertebral morphology abnormality of connective tissue skeletal muscle hypertrophy nevus abnormal muscle tone deviation of finger abnormal 5th finger morphology clinodactyly of the 5th finger abnormality of the abdominal wall short stature abnormality of body weight decreased body weight abnormal anterior eye segment morphology abnormality of bone mineral density reduced bone mineral density neoplasm of the nervous system abnormality of the pylorus abnormal nipple morphology abnormality of the pulmonary artery pulmonary artery stenosis biparietal narrowing abnormal cheek morphology thickened achilles tendon hypophosphatemic rickets abnormality of the pulmonary vasculature abnormal nasal morphology abnormality of the achilles tendon abnormal cardiac atrium morphology depressed nasal bridge abnormal nostril morphology enlarged posterior fossa congenital giant melanocytic nevus abnormal tracheobronchial morphology positional foot deformity joint hyperflexibility lower-limb joint contracture abnormal hand morphology redundant neck skin finger joint hypermobility deep palmar crease abnormality of hand joint mobility abnormality of dental morphology wide intermamillary distance abnormal atrioventricular valve morphology follicular thyroid carcinoma transitional cell carcinoma of the bladder aplasia/hypoplasia of the cerebellar vermis chiari type i malformation hemimegalencephaly aplasia/hypoplasia of the cerebellum aplasia/hypoplasia of the cerebrum atrophy/degeneration affecting the central nervous system atrophy/degeneration affecting the cerebrum aplasia/hypoplasia of the corpus callosum neoplasm of the genitourinary tract irregular hyperpigmentation generalized hyperpigmentation abnormal dermatoglyphics corneal opacity abnormality of the palpebral fissures aplasia/hypoplasia affecting the eye ichthyosis abnormally lax or hyperextensible skin neoplasm of the skin sparse hair foot joint contracture puberty and gonadal disorders aplasia/hypoplasia of the nails abnormal toenail morphology feeding difficulties in infancy aplasia/hypoplasia involving the skeleton aplasia/hypoplasia involving bones of the skull aplasia/hypoplasia of the mandible abnormal axial skeleton morphology aplasia/hypoplasia affecting bones of the axial skeleton deviation of the 5th finger ulnar deviation of finger deviation of the hand or of fingers of the hand abnormality of the hairline vestibular schwannoma abnormality of the vestibulocochlear nerve adenoma sebaceum bladder neoplasm neoplasm of striated muscle large earlobe abnormality of upper limb joint abnormality of the elbow aplasia/hypoplasia of the abdominal wall musculature abnormal ventricular septum morphology abnormality of the male genitalia abnormality of the palmar creases hyperextensibility of the knee sleep apnea hamartoma intracranial cystic lesion fibroma angiofibromas aplastic/hypoplastic toenail abnormal elasticity of skin abnormality of the curvature of the vertebral column abnormality of hair texture abnormal hair pattern abnormality of the premaxilla prominence of the premaxilla ectopic calcification urinary tract neoplasm nevus sebaceous epidermal nevus linear nevus sebaceous abnormality of the upper urinary tract abnormal external nose morphology abnormal fourth ventricle morphology abnormal morphology of the abdominal musculature abnormal cerebral subcortex morphology abnormal systemic arterial morphology abnormal glucose homeostasis abnormal blood glucose concentration abnormality of the gastrointestinal tract abnormal cardiovascular system physiology abnormality of fluid regulation abnormal helix morphology abnormality of dental structure abnormality of dental color abnormal nasal dorsum morphology abnormality of skin morphology abnormality of skin physiology abnormality of skin adnexa morphology abnormal shape of the occiput abnormal shape of the frontal region prominent forehead abnormality of the urinary system physiology abnormal hindbrain morphology abnormal metencephalon morphology abnormal digit morphology abnormal long bone morphology abnormality of fontanelles abnormality of mouth shape localized skin lesion regional abnormality of skin congenital abnormal hair pattern abnormal hair quantity epidermal thickening morphological abnormality of the vestibule of the inner ear morphological abnormality of the semicircular canal aplasia of the semicircular canal functional abnormality of the inner ear morphological abnormality of the inner ear fetal ultrasound soft marker abnormality of higher mental function abdominal symptom abnormality of corneal thickness arrhythmia abnormality of joint mobility abnormal thyroid morphology neoplasm by histology neoplasm by anatomical site abnormality of facial soft tissue midface retrusion abnormal muscle physiology abnormal skeletal muscle morphology abnormal facial skeleton morphology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology abnormal bone ossification abnormal platelet function short digit feeding difficulties abnormal atrial septum morphology cutaneous melanoma enlarged cerebellum abnormal renal morphology abnormal renal physiology abnormal reproductive system morphology abnormal respiratory system morphology abnormal occipital bone morphology fibrous tissue neoplasm abnormal homeostasis abnormal eye morphology abnormal eye physiology abnormality of brain morphology brain atrophy thick vermilion border eclabion abnormal involuntary eye movements abnormal urinary electrolyte concentration abnormal urine phosphate concentration abnormal nervous system physiology abnormal nervous system morphology morphological abnormality of the gastrointestinal tract functional abnormality of the gastrointestinal tract papilloma neurodevelopmental delay neurodevelopmental abnormality neoplasm of the ear abnormal vascular morphology abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology constitutional symptom abnormal esophagus physiology abnormal bronchus morphology nevus spilus fetal neck anomaly abnormal neck morphology clinodactyly abnormality of the posterior hairline abnormality of central nervous system electrophysiology abnormality of muscle size soft tissue sarcoma abnormal ocular adnexa morphology abnormality of cardiovascular system morphology central nervous system cyst abnormal jaw morphology abnormal tongue morphology abnormality of cardiovascular system electrophysiology abnormal morphology of the great vessels abnormal pulmonary artery morphology abnormal breast morphology abnormal heart valve physiology abnormal pulmonary valve physiology abnormal ear morphology abnormal ear physiology abnormal oral morphology abnormal reflex lymphangiectasis abnormality of the ocular adnexa abnormal circulating metabolite concentration abnormality of the musculoskeletal system abnormal blood vessel morphology thin corpus callosum fetal anomaly abnormal fetal morphology abnormal temporal lobe morphology joint contracture abnormal joint physiology finger clinodactyly abnormality of limbs abnormality of limb bone abnormal upper limb bone morphology abnormal morphology of ulna abnormal forearm bone morphology neoplasm of the inner ear abnormal intermamillary distance increased head circumference non-medullary thyroid carcinoma abnormal skin morphology of the palm early onset of sexual maturation neoplasm of the peripheral nervous system schwannoma abnormality of movement neoplasm of the thyroid gland abnormality of the scalp hair synostosis involving bones of the upper limbs synostosis of joints sarcoma abnormal tendon morphology abnormality of lower limb joint abnormal blood phosphate concentration abnormal localization of kidney cognitive impairment abnormal forebrain morphology asymmetric growth neoplasm of the endocrine system enlarged thorax lack of skin elasticity decreased corneal thickness abnormality of the curvature of the cornea increased corneal curvature large face vascular neoplasm abnormality of the lymphatic system abnormal lymphatic vessel morphology abnormal palm morphology abnormality of the plantar skin of foot abnormality of globe location abnormality of globe size slanting of the palpebral fissure skin nodule abnormal liver morphology abnormal frontal bone morphology abnormal odontoid tissue morphology acetylation alternative splicing golgi apparatus gtp-binding lipoprotein membrane methylation nucleus nucleotide-binding palmitate prenylation proto-oncogene s-nitrosylation ubl conjugation cytoplasm cell membrane isopeptide bond small gtpase small gtp-binding protein domain small gtpase, ras-type p-loop containing nucleoside triphosphate hydrolase ras subfamily of ras small gtpases reproduction developmental process involved in reproduction carbohydrate metabolic process alcohol metabolic process cellular aldehyde metabolic process organic acid metabolic process generation of precursor metabolites and energy glyoxylate cycle tricarboxylic acid cycle isocitrate metabolic process 2-oxoglutarate metabolic process peptide metabolic process cellular modified amino acid metabolic process nadp metabolic process glutathione metabolic process sulfur compound metabolic process nitrogen compound metabolic process response to stress response to oxidative stress multicellular organism development sex differentiation metabolic process gonad development female gonad development aerobic respiration response to endogenous stimulus response to hormone regulation of biosynthetic process regulation of catabolic process cellular process response to organic substance response to organic cyclic compound energy derivation by oxidation of organic compounds regulation of lipid metabolic process regulation of phosphate metabolic process regulation of metabolic process carboxylic acid metabolic process reproductive process regulation of cellular metabolic process regulation of cellular biosynthetic process regulation of cellular catabolic process multicellular organismal process developmental process monocarboxylic acid metabolic process response to lipid cellular nitrogen compound metabolic process response to chemical oxoacid metabolic process cellular amide metabolic process dicarboxylic acid metabolic process cellular metabolic process primary metabolic process cellular carbohydrate metabolic process small molecule metabolic process development of primary sexual characteristics cellular respiration glyoxylate metabolic process development of primary female sexual characteristics female sex differentiation regulation of lipid biosynthetic process animal organ development response to steroid hormone reproductive structure development system development anatomical structure development regulation of biological process regulation of cellular process response to stimulus regulation of lipid catabolic process regulation of phosphorus metabolic process regulation of phospholipid catabolic process reproductive system development biological regulation regulation of phospholipid biosynthetic process organic substance metabolic process tricarboxylic acid metabolic process regulation of primary metabolic process organonitrogen compound metabolic process organic hydroxy compound metabolic process secondary alcohol metabolic process regulation of phospholipid metabolic process nucleotide binding magnesium ion binding catalytic activity isocitrate dehydrogenase [nad(p)+] activity isocitrate dehydrogenase (nadp+) activity binding protein binding oxidoreductase activity oxidoreductase activity, acting on ch-oh group of donors oxidoreductase activity, acting on the ch-oh group of donors, nad or nadp as acceptor small molecule binding identical protein binding protein homodimerization activity ion binding cation binding cadherin binding metal ion binding protein dimerization activity nadp binding cell adhesion molecule binding nad binding organic cyclic compound binding nucleoside phosphate binding heterocyclic compound binding extracellular region extracellular space intracellular anatomical structure cytoplasm mitochondrion peroxisome peroxisomal matrix cytosol endomembrane system secretory granule cytoplasmic vesicle microbody lumen membrane-enclosed lumen vesicle vesicle lumen secretory granule lumen microbody organelle membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle organelle lumen cytoplasmic vesicle lumen extracellular membrane-bounded organelle intracellular organelle lumen extracellular exosome tertiary granule intracellular vesicle secretory vesicle ficolin-1-rich granule cellular anatomical entity extracellular vesicle tertiary granule lumen ficolin-1-rich granule lumen carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism citrate cycle (tca cycle), and pyruvate metabolism citrate cycle (tca cycle), and lactate dehydrogenase activity citrate cycle (tca cycle) tricarboxylic acid cycle isocitrate/isopropylmalate dehydrogenase citrate cycle (tca cycle) glutathione metabolism metabolic pathways carbon metabolism 2-oxocarboxylic acid metabolism biosynthesis of amino acids peroxisome central carbon metabolism in cancer metabolism disease innate immune system immune system metabolism of vitamins and cofactors cellular responses to stress abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate nadph regeneration diseases of metabolism neutrophil degranulation cellular responses to stimuli metabolism of cofactors peroxisomal protein import protein localization cellular response to chemical stress keap1-nfe2l2 pathway nuclear events mediated by nfe2l2 nfe2l2 regulating tca cycle genes glutathione metabolism tca cycle and deficiency of pyruvate dehydrogenase complex (pdhc) cytosine methylation amino acid metabolism organ system cancer cell type cancer benign neoplasm cell type benign neoplasm organ system benign neoplasm central nervous system benign neoplasm cardiovascular organ benign neoplasm musculoskeletal system cancer brain glioma nervous system benign neoplasm maffucci syndrome myeloid neoplasm bone disease hepatobiliary system cancer bone sarcoma cardiovascular system disease brain cancer disease of cellular proliferation cancer musculoskeletal system disease vascular disease bone cancer connective tissue cancer syndrome hematologic cancer hemangioma adenocarcinoma carcinoma glioblastoma multiforme astrocytoma malignant glioma gliosarcoma giant cell glioblastoma adult astrocytic tumour grade iii astrocytoma nervous system cancer hepatobiliary disease gastrointestinal system cancer oligodendroglioma childhood oligodendroglioma spinal cord disease central nervous system disease chondrosarcoma central nervous system cancer disease bile duct disease brain stem glioma brain stem cancer bile duct cancer biliary tract cancer ollier disease infratentorial cancer adult brain stem glioma pilocytic astrocytoma pleomorphic xanthoastrocytoma obsolete diffuse astrocytoma bile duct adenocarcinoma bile duct carcinoma intrahepatic cholangiocarcinoma cholangiocarcinoma spindle cell hemangioma bone marrow cancer bone marrow disease myelofibrosis mixed glioma ganglioglioma periosteal chondrosarcoma gliomatosis cerebri connective tissue disease disease of anatomical entity gemistocytic astrocytoma obsolete anaplastic oligodendroglioma hematopoietic system disease gastrointestinal system disease nervous system disease brain disease biliary tract disease tissues, cell types and enzyme sources animal alimentary canal male reproductive gland reproductive system male reproductive system female reproductive system brain embryonic structure respiratory system central nervous system female reproductive gland brain cell line head organism form digestive gland connective tissue excretory gland fetus gastrointestinal tract gland integument kidney liver lung mucosa placenta urinary tract uterine endometrium uterus nervous system endocrine gland whole body viscus urogenital system urinary system internal female genital organ interstitial cell of cajal interstitial cell extracellular region extracellular space intracellular cytoplasm peroxisome peroxisomal matrix cytosol endomembrane system membrane secretory granule cytoplasmic vesicle microbody lumen membrane-enclosed lumen vesicle protein-containing complex microbody organelle membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle organelle lumen respiratory chain complex ii succinate dehydrogenase complex extracellular membrane-bounded organelle intracellular organelle lumen extracellular exosome respirasome tertiary granule intracellular vesicle membrane protein complex respiratory chain complex secretory vesicle ficolin-1-rich granule cellular anatomical entity catalytic complex extracellular vesicle tertiary granule lumen ficolin-1-rich granule lumen oxidoreductase complex abnormality of body height abnormal morphology of female internal genitalia abnormality of the genital system phenotypic abnormality abnormality of the genitourinary system abnormality of the ovary abnormality of the nervous system abnormality of the breast abnormal internal genitalia abnormality of the endocrine system abnormality of the thyroid gland precocious puberty abnormality of the parathyroid gland abnormality of the adrenal glands goiter abnormality of the hypothalamus-pituitary axis abnormality of the skeletal system abnormality of the vertebral column platyspondyly abnormal metaphysis morphology abnormality of the skin hemangioma limitation of joint mobility joint stiffness subcutaneous nodule growth abnormality growth delay abnormality of the integument abnormality of the cardiovascular system abnormality of blood and blood-forming tissues abnormal erythrocyte morphology anemia abnormality of coagulation abnormal thrombosis morphological central nervous system abnormality dysphagia abnormality of the vasculature scoliosis bone pain increased susceptibility to fractures neoplasm abnormality of the immune system pathologic fracture recurrent fractures abnormal cartilage morphology osteolysis abnormality of limb bone morphology pituitary adenoma parathyroid adenoma micromelia breast carcinoma abnormal form of the vertebral bodies abnormal bone structure abnormal vertebral morphology short stature neoplasm of the nervous system venous thrombosis multiple enchondromatosis chondrosarcoma cranial nerve paralysis neoplasm of the genitourinary tract hemangiomatosis puberty and gonadal disorders aplasia/hypoplasia involving the skeleton abnormal axial skeleton morphology astrocytoma glioma aplasia/hypoplasia of the extremities limb undergrowth abnormality of the female genitalia hamartoma neoplasm of the skeletal system abnormality of the curvature of the vertebral column gonadal neoplasm genital neoplasm abnormality of the gastrointestinal tract abnormality of skin morphology abnormal long bone morphology localized skin lesion abnormal central motor function abnormality of joint mobility abnormality of adrenal morphology abnormality of the anterior pituitary neoplasm of the anterior pituitary abnormality of the parathyroid morphology abnormal thyroid morphology neoplasm by histology neoplasm by anatomical site abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology abnormal reproductive system morphology abnormality of brain morphology abnormality of the pituitary gland pain abnormal nervous system physiology abnormal nervous system morphology functional abnormality of the gastrointestinal tract abnormality of the digestive system abnormality of digestive system physiology constitutional symptom abnormal esophagus physiology enchondroma nervous tissue neoplasm neuroectodermal neoplasm neuroepithelial neoplasm abnormal endocrine morphology abnormal breast morphology abnormal cranial nerve physiology abnormality of the musculoskeletal system abnormal joint physiology abnormality of limbs abnormality of limb bone neoplasm of the pituitary gland early onset of sexual maturation neoplasm of the central nervous system neoplasm of the breast cerebral palsy abnormality of movement sarcoma neoplasm of the endocrine system ovarian neoplasm neoplasm of the adrenal gland neoplasm of the adrenal cortex abnormal glial cell morphology abnormal astrocyte morphology neoplasm of the parathyroid gland vascular neoplasm visceral angiomatosis abnormality of the lymphatic system lymphangioma exostoses malignant neoplasm of the central nervous system skin nodule skin ulcer acetylation glyoxylate bypass magnesium manganese metal-binding nadp oxidoreductase peroxisome phosphoprotein tricarboxylic acid cycle cytoplasm isocitrate dehydrogenase nadp-dependent isocitrate/isopropylmalate dehydrogenase, conserved site isopropylmalate dehydrogenase-like domain isocitrate/isopropylmalate dehydrogenase carbohydrate metabolic process alcohol metabolic process cellular aldehyde metabolic process organic acid metabolic process generation of precursor metabolites and energy glyoxylate cycle tricarboxylic acid cycle isocitrate metabolic process 2-oxoglutarate metabolic process nadp metabolic process metabolic process aerobic respiration cellular process energy derivation by oxidation of organic compounds carboxylic acid metabolic process monocarboxylic acid metabolic process oxoacid metabolic process dicarboxylic acid metabolic process cellular metabolic process primary metabolic process cellular carbohydrate metabolic process small molecule metabolic process cellular respiration glyoxylate metabolic process organic substance metabolic process tricarboxylic acid metabolic process organic hydroxy compound metabolic process secondary alcohol metabolic process nucleotide binding magnesium ion binding catalytic activity isocitrate dehydrogenase [nad(p)+] activity isocitrate dehydrogenase (nadp+) activity binding oxidoreductase activity oxidoreductase activity, acting on ch-oh group of donors oxidoreductase activity, acting on the ch-oh group of donors, nad or nadp as acceptor small molecule binding ion binding cation binding metal ion binding nad binding organic cyclic compound binding nucleoside phosphate binding heterocyclic compound binding extracellular region extracellular space intracellular anatomical structure cytoplasm mitochondrion mitochondrial matrix peroxisome cytosol membrane-enclosed lumen vesicle microbody organelle membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle organelle lumen extracellular membrane-bounded organelle intracellular organelle lumen extracellular exosome cellular anatomical entity extracellular vesicle carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism citrate cycle (tca cycle), and pyruvate metabolism citrate cycle (tca cycle), and lactate dehydrogenase activity citrate cycle (tca cycle) tricarboxylic acid cycle isocitrate/isopropylmalate dehydrogenase citrate cycle (tca cycle) glutathione metabolism metabolic pathways carbon metabolism 2-oxocarboxylic acid metabolism biosynthesis of amino acids peroxisome central carbon metabolism in cancer the citric acid (tca) cycle and respiratory electron transport metabolism mitochondrial biogenesis organelle biogenesis and maintenance transcriptional activation of mitochondrial biogenesis citric acid cycle (tca cycle) pyruvate metabolism and citric acid (tca) cycle cytosine methylation vegfa-vegfr2 signaling metabolic reprogramming in colon cancer cerebral organic acidurias, including diseases tca cycle (aka krebs or citric acid cycle) disease of metabolism 2-hydroxyglutaric aciduria d-2-hydroxyglutaric aciduria organ system cancer cell type cancer mature t-cell and nk-cell lymphoma peripheral t-cell lymphoma lymphoma non-hodgkin lymphoma benign neoplasm lymphatic system cancer immune system cancer cell type benign neoplasm organ system benign neoplasm central nervous system benign neoplasm musculoskeletal system cancer brain glioma nervous system benign neoplasm maffucci syndrome myeloid neoplasm bone disease hepatobiliary system cancer bone sarcoma angioimmunoblastic t-cell lymphoma brain cancer disease of cellular proliferation cancer musculoskeletal system disease bone cancer connective tissue cancer syndrome hematologic cancer juxtacortical chondroma chondroma immune system disease adenocarcinoma carcinoma glioblastoma multiforme astrocytoma malignant glioma grade iii astrocytoma nervous system cancer hepatobiliary disease gastrointestinal system cancer oligodendroglioma spinal cord disease central nervous system disease chondrosarcoma central nervous system cancer disease bile duct disease bile duct cancer biliary tract cancer ollier disease obsolete diffuse astrocytoma bile duct adenocarcinoma bile duct carcinoma cholangiocarcinoma bone marrow cancer bone marrow disease myelofibrosis genetic disease connective tissue disease inherited metabolic disorder disease of anatomical entity obsolete anaplastic oligodendroglioma hematopoietic system disease lymphatic system disease gastrointestinal system disease nervous system disease amino acid metabolic disorder brain disease biliary tract disease tissues, cell types and enzyme sources animal alimentary canal male reproductive gland reproductive system male reproductive system female reproductive system cardiovascular system brain central nervous system cerebral hemisphere cerebral cortex telencephalon female reproductive gland colon head organism form digestive gland forebrain gastrointestinal tract gland gonad heart integument intestine large intestine liver heart ventricle atrium skin testis nervous system endocrine gland whole body viscus colorectum left ventricle left atrium urogenital system internal male genital organ extracellular region extracellular space intracellular cytoplasm mitochondrion mitochondrial matrix membrane membrane-enclosed lumen vesicle protein-containing complex organelle membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle organelle lumen respiratory chain complex ii succinate dehydrogenase complex extracellular membrane-bounded organelle intracellular organelle lumen extracellular exosome respirasome membrane protein complex respiratory chain complex cellular anatomical entity catalytic complex extracellular vesicle oxidoreductase complex urate measurement glycoprotein measurement lipoprotein measurement protein measurement lipid or lipoprotein measurement clusterin measurement cerebrospinal fluid clusterin measurement abnormality of body height abnormal morphology of female internal genitalia abnormality of the genital system abnormality of the urinary system phenotypic abnormality abnormality of the genitourinary system abnormality of the ovary abnormality of the nervous system abnormality of the breast abnormal internal genitalia abnormality of the endocrine system abnormality of the thyroid gland precocious puberty abnormality of the parathyroid gland abnormality of the adrenal glands goiter abnormality of the hypothalamus-pituitary axis abnormality of the skeletal system abnormality of the vertebral column platyspondyly abnormal metaphysis morphology abnormality of the skin hemangioma seizure hypotonia global developmental delay limitation of joint mobility joint stiffness subcutaneous nodule growth abnormality growth delay abnormality of the integument abnormality of the cardiovascular system abnormal heart morphology abnormal myocardium morphology cardiomyopathy abnormality of blood and blood-forming tissues abnormal erythrocyte morphology anemia abnormality of coagulation abnormality of metabolism/homeostasis abnormal thrombosis organic aciduria morphological central nervous system abnormality dysphagia abnormality of the vasculature scoliosis bone pain increased susceptibility to fractures neoplasm abnormality of the immune system pathologic fracture recurrent fractures abnormal cartilage morphology osteolysis abnormality of limb bone morphology pituitary adenoma parathyroid adenoma micromelia breast carcinoma abnormality of the musculature abnormality of urine homeostasis dicarboxylic aciduria abnormal form of the vertebral bodies abnormal bone structure abnormal vertebral morphology abnormal muscle tone short stature abnormal circulating carboxylic acid concentration abnormality of acid-base homeostasis neoplasm of the nervous system venous thrombosis multiple enchondromatosis chondrosarcoma cranial nerve paralysis neoplasm of the genitourinary tract hemangiomatosis puberty and gonadal disorders aplasia/hypoplasia involving the skeleton abnormal axial skeleton morphology astrocytoma glioma aplasia/hypoplasia of the extremities limb undergrowth abnormality of the female genitalia hamartoma neoplasm of the skeletal system abnormality of the curvature of the vertebral column gonadal neoplasm genital neoplasm abnormal circulating dicarboxylic acid concentration abnormality of the gastrointestinal tract abnormality of skin morphology abnormality of the urinary system physiology abnormal long bone morphology localized skin lesion abnormal central motor function abnormality of joint mobility abnormality of adrenal morphology abnormality of the anterior pituitary neoplasm of the anterior pituitary abnormality of the parathyroid morphology abnormal thyroid morphology neoplasm by histology neoplasm by anatomical site abnormal muscle physiology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology aciduria abnormal reproductive system morphology d-2-hydroxyglutaric aciduria abnormal homeostasis abnormality of brain morphology abnormality of the pituitary gland pain abnormal nervous system physiology abnormal nervous system morphology functional abnormality of the gastrointestinal tract neurodevelopmental delay neurodevelopmental abnormality abnormality of the digestive system abnormality of digestive system physiology constitutional symptom abnormal esophagus physiology enchondroma nervous tissue neoplasm neuroectodermal neoplasm neuroepithelial neoplasm abnormality of cardiovascular system morphology abnormal endocrine morphology abnormal breast morphology abnormal cranial nerve physiology abnormal urine carboxylic acid level abnormal circulating metabolite concentration 2-hydroxyglutarate aciduria acidemia abnormal urine ph abnormality of the musculoskeletal system abnormal urine metabolite level abnormal joint physiology abnormality of limbs abnormality of limb bone dicarboxylic acidemia d-2-hydroxyglutaric acidemia elevated urinary carboxylic acid neoplasm of the pituitary gland early onset of sexual maturation neoplasm of the central nervous system neoplasm of the breast cerebral palsy abnormality of movement sarcoma neoplasm of the endocrine system ovarian neoplasm neoplasm of the adrenal gland neoplasm of the adrenal cortex abnormal glial cell morphology abnormal astrocyte morphology neoplasm of the parathyroid gland vascular neoplasm visceral angiomatosis abnormality of the lymphatic system lymphangioma exostoses malignant neoplasm of the central nervous system skin nodule skin ulcer acetylation alternative splicing glyoxylate bypass magnesium manganese metal-binding mitochondrion nadp oxidoreductase transit peptide tricarboxylic acid cycle isocitrate dehydrogenase nadp-dependent isocitrate/isopropylmalate dehydrogenase, conserved site isopropylmalate dehydrogenase-like domain isocitrate/isopropylmalate dehydrogenase reproduction skeletal system development ovarian follicle development ameboidal-type cell migration cell activation regulation of cytokine production positive regulation of cytokine production regulation of protein phosphorylation positive regulation of protein phosphorylation hematopoietic progenitor cell differentiation immune effector process myeloid cell homeostasis cell activation involved in immune response myeloid leukocyte activation myeloid cell activation involved in immune response mast cell activation involved in immune response myeloid progenitor cell differentiation lymphoid progenitor cell differentiation immature b cell differentiation leukocyte activation involved in immune response immune system process leukocyte mediated immunity myeloid leukocyte mediated immunity mast cell mediated immunity immune system development leukocyte differentiation mast cell chemotaxis myeloid leukocyte differentiation regulation of immune system process positive regulation of immune system process regulation of immune effector process positive regulation of immune effector process regulation of production of molecular mediator of immune response positive regulation of production of molecular mediator of immune response regulation of leukocyte mediated immunity positive regulation of leukocyte mediated immunity regulation of cytokine production involved in immune response positive regulation of cytokine production involved in immune response regulation of dendritic cell cytokine production positive regulation of dendritic cell cytokine production immune response-regulating signaling pathway immune response-regulating cell surface receptor signaling pathway developmental process involved in reproduction system process regulation of transcription, dna-templated protein phosphorylation lipid metabolic process membrane lipid metabolic process glycolipid metabolic process sphingolipid metabolic process glycosphingolipid metabolic process phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process transport exocytosis chemotaxis regulation of muscle contraction regulation of smooth muscle contraction response to stress defense response inflammatory response immune response organelle organization cytoskeleton organization cell communication cell adhesion signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway multicellular organism development gamete generation germ cell development spermatogenesis spermatid development sensory organ development sex differentiation sensory perception sensory perception of sound behavior learning or memory learning visual behavior metabolic process cell death cell population proliferation positive regulation of cell population proliferation associative learning germ cell migration regulation of cell shape gonad development visual learning male gonad development female gonad development regulation of notch signaling pathway response to radiation response to light stimulus detection of external stimulus detection of abiotic stimulus response to external stimulus response to mechanical stimulus response to abiotic stimulus response to endogenous stimulus response to hormone embryo development regulation of biosynthetic process positive regulation of metabolic process regulation of signal transduction positive regulation of signal transduction cellular process response to organic substance response to inorganic substance response to metal ion regulation of gene expression regulation of phospholipase activity positive regulation of phospholipase activity regulation of macromolecule biosynthetic process positive regulation of phosphorus metabolic process positive regulation of macromolecule metabolic process programmed cell death involved in cell development positive regulation of gene expression epithelial cell migration regulation of cell communication positive regulation of cell communication positive regulation of cell development positive regulation of phospholipase c activity regulation of cell death programmed cell death regulation of phosphatidylinositol 3-kinase signaling positive regulation of phosphatidylinositol 3-kinase signaling cellular component organization vesicle-mediated transport phosphorylation cell migration stem cell division peptidyl-tyrosine phosphorylation peptidyl-amino acid modification peptidyl-tyrosine modification regulation of lipid metabolic process regulation of steroid metabolic process regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process cytokine-mediated signaling pathway regulation of metabolic process protein metabolic process stem cell population maintenance sexual reproduction cellular process involved in reproduction in multicellular organism reproductive process regulation of anatomical structure morphogenesis regulation of cell morphogenesis cellular component assembly regulation of signaling signaling positive regulation of signaling actin filament-based process cell projection organization cell projection assembly lamellipodium assembly actin cytoskeleton organization hemopoiesis lymphocyte differentiation myeloid cell differentiation cell differentiation b cell differentiation t cell differentiation erythrocyte differentiation megakaryocyte differentiation melanocyte differentiation regulation of cell migration positive regulation of cell migration leukocyte chemotaxis regulation of pseudopodium assembly positive regulation of pseudopodium assembly regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process regulation of cell projection organization positive regulation of cell projection organization regulation of protein modification process positive regulation of protein modification process actin cytoskeleton reorganization lysosome localization multicellular organismal process developmental process multicellular organism reproduction regulation of mast cell cytokine production positive regulation of mast cell cytokine production cellular response to hormone stimulus secretion by cell positive regulation of kinase activity response to cytokine erythrocyte homeostasis somatic stem cell population maintenance embryonic hemopoiesis ectopic germ cell programmed cell death tube development intracellular signal transduction hematopoietic stem cell migration megakaryocyte development response to erythropoietin cellular response to erythropoietin protein modification process response to stem cell factor cellular response to stem cell factor stimulus fc receptor signaling pathway kit signaling pathway erythropoietin-mediated signaling pathway locomotion regulation of locomotion positive regulation of locomotion t cell activation b cell activation regulation of cell population proliferation response to chemical regulation of phosphorylation positive regulation of phosphorylation taxis regulation of tyrosine phosphorylation of stat protein positive regulation of tyrosine phosphorylation of stat protein homeostatic process regulation of programmed cell death negative regulation of programmed cell death positive regulation of catalytic activity macromolecule metabolic process leukocyte degranulation mast cell degranulation regulation of map kinase activity positive regulation of map kinase activity regulation of mapk cascade positive regulation of mapk cascade macromolecule modification pigmentation regulation of kinase activity regulation of lipid kinase activity regulation of phosphatidylinositol 3-kinase activity positive regulation of phosphatidylinositol 3-kinase activity tongue development regulation of system process cellular component biogenesis regulation of cellular component biogenesis positive regulation of cellular component biogenesis positive regulation of molecular function cellular metabolic process primary metabolic process cellular lipid metabolic process regulated exocytosis development of primary sexual characteristics leukocyte activation mast cell activation regulation of cell differentiation positive regulation of cell differentiation positive regulation of notch signaling pathway positive regulation of lipid metabolic process regulation of protein kinase activity positive regulation of protein kinase activity positive regulation of muscle contraction positive regulation of phosphate metabolic process positive regulation of smooth muscle contraction regulation of receptor signaling pathway via jak-stat positive regulation of receptor signaling pathway via jak-stat development of primary female sexual characteristics development of primary male sexual characteristics lymphocyte activation female sex differentiation male sex differentiation response to cadmium ion protein autophosphorylation secretion developmental pigmentation somatic stem cell division regulation of synaptic plasticity regulation of neuronal synaptic plasticity regulation of long-term neuronal synaptic plasticity positive regulation of long-term neuronal synaptic plasticity male gamete generation cell development animal organ development spermatid differentiation positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process hematopoietic or lymphoid organ development digestive tract development embryonic organ development regulation of response to stimulus positive regulation of response to stimulus reproductive structure development multicellular organismal reproductive process system development anatomical structure development stem cell differentiation cellular developmental process cell motility homeostasis of number of cells epithelial cell proliferation regulation of peptidyl-tyrosine phosphorylation positive regulation of peptidyl-tyrosine phosphorylation regulation of neurogenesis positive regulation of neurogenesis regulation of immune response regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process modulation of chemical synaptic transmission nervous system process cognition response to stimulus leukocyte migration detection of stimulus involved in sensory perception detection of mechanical stimulus involved in sensory perception of sound pigment cell differentiation sensory perception of mechanical stimulus detection of mechanical stimulus involved in sensory perception detection of mechanical stimulus regulation of dna-binding transcription factor activity positive regulation of dna-binding transcription factor activity negative regulation of developmental process positive regulation of developmental process regulation of cellular component organization positive regulation of cellular component organization regulation of muscle cell differentiation positive regulation of muscle cell differentiation regulation of smooth muscle cell differentiation positive regulation of smooth muscle cell differentiation regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process localization establishment of localization regulation of multicellular organismal process positive regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process regulation of rna metabolic process cell division regulation of hydrolase activity regulation of transferase activity positive regulation of hydrolase activity positive regulation of transferase activity detection of stimulus organelle localization cellular localization establishment of localization in cell establishment of organelle localization cellular response to stimulus regulation of nervous system development positive regulation of nervous system development digestive system development regulation of lipase activity positive regulation of lipase activity regulation of macromolecule metabolic process regulation of cell development cell chemotaxis bone development mast cell differentiation regulation of cell projection assembly negative regulation of cell death positive regulation of myeloid leukocyte cytokine production involved in immune response reproductive system development myeloid cell development regulation of small molecule metabolic process biological regulation regulation of biological quality regulation of molecular function leukocyte proliferation mast cell proliferation regulation of leukocyte proliferation positive regulation of leukocyte proliferation regulation of mast cell proliferation positive regulation of mast cell proliferation cellular response to chemical stimulus cellular response to organic substance cellular response to cytokine stimulus cellular response to endogenous stimulus organic substance metabolic process cellular component organization or biogenesis regulation of protein serine/threonine kinase activity positive regulation of protein serine/threonine kinase activity regulation of primary metabolic process tissue migration epithelium migration epithelial cell-cell adhesion positive regulation of lipid kinase activity regulation of muscle system process response to thyroid hormone cellular response to thyroid hormone stimulus melanocyte migration melanocyte adhesion myeloid leukocyte migration mast cell migration lamellipodium organization cell-cell adhesion maintenance of cell number bone cell development regulation of trans-synaptic signaling plasma membrane bounded cell projection assembly regulation of plasma membrane bounded cell projection assembly positive regulation of plasma membrane bounded cell projection assembly regulation of plasma membrane bounded cell projection organization plasma membrane bounded cell projection organization regulation of pyloric antrum smooth muscle contraction positive regulation of pyloric antrum smooth muscle contraction export from cell regulation of phospholipase c activity carbohydrate derivative metabolic process organonitrogen compound metabolic process regulation of intracellular signal transduction positive regulation of intracellular signal transduction mononuclear cell differentiation regulation of nucleic acid-templated transcription liposaccharide metabolic process regulation of bile acid metabolic process regulation of gastro-intestinal system smooth muscle contraction positive regulation of gastro-intestinal system smooth muscle contraction regulation of colon smooth muscle contraction positive regulation of colon smooth muscle contraction regulation of small intestine smooth muscle contraction positive regulation of small intestine smooth muscle contraction regulation of receptor signaling pathway via stat positive regulation of receptor signaling pathway via stat regulation of vascular associated smooth muscle cell differentiation positive regulation of vascular associated smooth muscle cell differentiation vacuolar localization regulation of multicellular organismal development regulation of cell motility positive regulation of cell motility regulation of reproductive process negative regulation of reproductive process regulation of rna biosynthetic process nucleotide binding protease binding catalytic activity protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity transmembrane signaling receptor activity stem cell factor receptor activity binding protein binding atp binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding transmembrane receptor protein kinase activity enzyme binding protein domain specific binding cytokine binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding signaling receptor activity sh2 domain binding identical protein binding protein homodimerization activity ion binding anion binding cation binding metal ion binding protein dimerization activity molecular transducer activity organic cyclic compound binding carbohydrate derivative binding catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding fibrillar center acrosomal vesicle extracellular region extracellular space intracellular anatomical structure nucleus nucleolus cytoplasm plasma membrane integral component of plasma membrane cell-cell junction external side of plasma membrane cytoplasmic side of plasma membrane cell surface endomembrane system membrane integral component of membrane cell junction secretory granule intrinsic component of membrane intrinsic component of plasma membrane cytoplasmic vesicle membrane-enclosed lumen nuclear lumen vesicle protein-containing complex organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen receptor complex intracellular organelle lumen anchoring junction cell periphery intracellular vesicle side of membrane cytoplasmic side of membrane secretory vesicle cellular anatomical entity mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and tyrosine-protein kinase, catalytic domain mixed, incl. constitutive signaling by aberrant pi3k in cancer, and fceri mediated ca+2 mobilization constitutive signaling by aberrant pi3k in cancer, and vegf ligand-receptor interactions mast-cell leukemia, and flt3 signaling through src family kinases mapk signaling pathway ras signaling pathway rap1 signaling pathway phospholipase d signaling pathway pi3k-akt signaling pathway hematopoietic cell lineage melanogenesis pathways in cancer acute myeloid leukemia breast cancer central carbon metabolism in cancer pip3 activates akt signaling signaling by scf-kit regulation of kit signaling signal transduction disease negative regulation of the pi3k/akt network generic transcription pathway pi3k/akt signaling in cancer constitutive signaling by aberrant pi3k in cancer diseases of signal transduction by growth factor receptors and second messengers raf/map kinase cascade mapk family signaling cascades mapk1/mapk3 signaling pi5p, pp2a and ier3 regulate pi3k/akt signaling rna polymerase ii transcription gene expression (transcription) transcriptional regulation by the ap-2 (tfap2) family of transcription factors tfap2 (ap-2) family regulates transcription of growth factors and their receptors intracellular signaling by second messengers signaling by receptor tyrosine kinases dasatinib-resistant kit mutants imatinib-resistant kit mutants kit mutants bind tkis masitinib-resistant kit mutants nilotinib-resistant kit mutants regorafenib-resistant kit mutants signaling by kinase domain mutants of kit sunitinib-resistant kit mutants signaling by juxtamembrane domain kit mutants sorafenib-resistant kit mutants drug resistance of kit mutants signaling by kit in disease signaling by phosphorylated juxtamembrane, extracellular and kinase domain kit mutants signaling by extracellular domain mutants of kit cardiac progenitor differentiation pluripotent stem cell differentiation pathway kit receptor signaling pathway imatinib and chronic myeloid leukemia focal adhesion: pi3k-akt-mtor-signaling pathway pi3k-akt signaling pathway ras signaling breast cancer pathway neovascularisation processes hippo signaling regulation pathways hippo-merlin signaling dysregulation gastrin signaling pathway melanoma malignant pleural mesothelioma markers of kidney cell lineage primary ovarian insufficiency monogenic disease organ system cancer cell type cancer autosomal dominant disease autosomal genetic disease mucosal melanoma benign neoplasm lymphatic system cancer immune system cancer cell type benign neoplasm organ system benign neoplasm musculoskeletal system benign neoplasm musculoskeletal system cancer nervous system benign neoplasm pharynx cancer integumentary system cancer muscular disease adenoid cystic carcinoma intestinal cancer ovarian disease sarcoma female reproductive organ cancer urticaria pigmentosa leukemia vulva cancer leiomyoma rectal disease anus cancer malignant anus melanoma disease of cellular proliferation reproductive system disease integumentary system disease cancer musculoskeletal system disease endocrine gland cancer malignant skin fibrous histiocytoma melanoma reproductive organ cancer leiomyosarcoma neuroma vulvar disease vulvar melanoma gonadal disease female reproductive system disease ovarian cancer hematologic cancer endocrine system disease immune system disease germ cell cancer carcinoma gastrointestinal system cancer anus disease neurilemmoma piebaldism thymus cancer thymic carcinoma germinoma mesenchymal cell neoplasm systemic mastocytosis mastocytosis mast-cell sarcoma cutaneous mastocytosis mast cell neoplasm diffuse cutaneous mastocytosis cutaneous solitary mastocytoma skin disease disease muscle cancer skin cancer smooth muscle cancer smooth muscle tumor seminoma dysgerminoma muscle benign neoplasm indolent systemic mastocytosis sm-ahnmd aggressive systemic mastocytosis malignant dermis tumor intestinal disease thymus gland disease dysgerminoma of ovary large intestine cancer genetic disease disease of anatomical entity hematopoietic system disease lymphatic system disease gastrointestinal system disease chronic myeloid leukemia oropharynx cancer nervous system disease myeloid sarcoma myeloid leukemia tonsil cancer acute myeloid leukemia gastrointestinal stromal tumor mast-cell leukemia leukocyte disease tissues, cell types and enzyme sources animal reproductive system female reproductive system blood blast cell bone marrow brain embryonic structure respiratory system central nervous system bone marrow cell line head organism form plasma cell connective tissue fetus hematopoietic system colonic cancer cell integument marrow mast cell mucosa prostate gland cell line prostate cancer cell line placenta trachea nervous system skeletal system whole body gastrointestinal cancer cell mast cell line submucosa mature cell immature cell cell property urogenital system internal female genital organ bmmc cell spindle cell gastrointestinal stromal tumor cell bone marrow cell epitheloid cell fibrillar center extracellular region extracellular space intracellular nucleus nucleolus plasma membrane membrane membrane-enclosed lumen nuclear lumen organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen intracellular organelle lumen cell periphery cellular anatomical entity sign or symptom pain cognition anemia (phenotype) anthropometric measurement erythrocyte indices leukocyte count mental process body weights and measures intelligence body height body mass index hematological measurement mean corpuscular hemoglobin lipid measurement triglyceride measurement complete blood cell count high density lipoprotein cholesterol measurement lipoprotein measurement protein measurement neutrophil count eosinophil count erythrocyte measurement monocyte count lipid or lipoprotein measurement granulocyte count myeloid white cell count neutrophil percentage of leukocytes functional abnormality of male internal genitalia azoospermia abnormality of the genital system abnormality of reproductive system physiology phenotypic abnormality abnormality of the genitourinary system abnormality of head or neck abnormality of the mouth abnormal lip morphology abnormal oral cavity morphology abnormal upper lip morphology abnormality of the head abnormality of skull size microcephaly abnormality of the face abnormality of the philtrum abnormality of the orbital region long philtrum hearing abnormality hearing impairment abnormality of the nose abnormal nasal bridge morphology wide nasal bridge abnormality of the eye abnormal eyelid morphology abnormal eyelash morphology abnormality iris morphology abnormal eyebrow morphology abnormal uvea morphology abnormality of the ear synophrys abnormality of the nervous system abnormal peripheral nervous system morphology abnormality of the skeletal system abnormal skull morphology osteoporosis abnormality of the skin hyperpigmentation of the skin edema pallor skin rash pruritus hypertrichosis abnormality of skin pigmentation telangiectasia hypopigmentation of the skin erythroderma urticaria hypermelanotic macule hypopigmented skin patches neurofibromas thickened skin heterochromia iridis abnormality of the hand large hands abnormalities of placenta or umbilical cord abnormality of prenatal development or birth intellectual disability ataxia hypotonia syncope abnormality of the liver abnormal abdomen morphology subcutaneous nodule growth abnormality abnormality of the integument abnormal hair morphology abnormality of the cardiovascular system tachycardia abnormality of the spleen splenomegaly weight loss abnormality of blood and blood-forming tissues abnormality of thrombocytes thrombocytopenia abnormality of neutrophils abnormal erythrocyte morphology abnormal eosinophil morphology eosinophilia abnormal leukocyte morphology abnormal bleeding normochromic anemia normocytic anemia anemia leukemia abnormal granulocyte morphology abnormal basophil morphology abnormality of metabolism/homeostasis fever leukocytosis morphological central nervous system abnormality abnormality of the abdominal organs diarrhea dysphagia nausea and vomiting nausea constipation abdominal pain abnormal esophagus morphology abnormal rectum morphology anorexia abnormal cerebral morphology abnormality of the respiratory system respiratory insufficiency asthma white forelock facial hypertrichosis white eyebrow white eyelashes gastrointestinal hemorrhage hepatomegaly abnormal intestine morphology abnormal large intestine morphology aganglionic megacolon abnormality of the autonomic nervous system headache acute leukemia abnormal stomach morphology abnormality of the vasculature hypotension obsolete abnormality of calvarial morphology bone pain increased susceptibility to fractures neoplasm lymphoma abnormality of the immune system lymphadenopathy abnormal lymph node morphology recurrent fractures abnormal respiratory system physiology abnormality of the upper limb arthralgia myelodysplasia embryonal neoplasm aplasia/hypoplasia involving the central nervous system abnormality of the musculature hypercalcemia abnormal blood ion concentration visceromegaly myalgia abnormal bone structure somatic sensory dysfunction abnormal muscle tone ventricular arrhythmia abnormality of body weight decreased body weight abnormal anterior eye segment morphology abnormality of bone mineral density reduced bone mineral density abnormality of enteric ganglion morphology abnormal circulating calcium concentration abnormality of temperature regulation neoplasm of the nervous system hematological neoplasm peptic ulcer gastrointestinal obstruction acute myeloid leukemia abnormal nasal morphology intestinal obstruction myeloproliferative disorder chronic lymphatic leukemia chronic leukemia abnormality of bone marrow cell morphology profuse pigmented skin lesions hypopigmentation of hair abnormal hand morphology respiratory arrest elevated alpha-fetoprotein cardiorespiratory arrest neoplasm of the stomach multiple myeloma aplasia/hypoplasia of the cerebrum neoplasm of the gastrointestinal tract neoplasm of the genitourinary tract irregular hyperpigmentation partial albinism absent pigmentation of the ventral chest piebaldism telangiectasia macularis eruptiva perstans abnormal iris pigmentation abnormal blistering of the skin neoplasm of the skin abnormal spermatogenesis abnormal axial skeleton morphology teratoma abnormality of hair pigmentation fibroma erythema gonadal neoplasm genital neoplasm impaired temperature sensation abnormal circulating protein concentration abnormal blood inorganic cation concentration abnormal blood cation concentration anemia of inadequate production abnormal myeloid leukocyte morphology abnormality of immune system physiology abnormal cellular immune system morphology abnormality of the gastrointestinal tract abnormal cardiovascular system physiology abnormality of blood circulation internal hemorrhage abnormality of fluid regulation amyloidosis abnormality of skin morphology abnormality of skin physiology inflammatory abnormality of the skin abnormality of skin adnexa morphology vascular skin abnormality generalized abnormality of skin localized skin lesion abnormal hair quantity patchy hypopigmentation of hair abnormal central motor function abnormality of coordination abnormality of higher mental function abdominal symptom arrhythmia neoplasm by histology neoplasm by anatomical site abnormal muscle physiology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal bone ossification abnormal platelet count abnormal platelet morphology abnormal leukocyte count neutrophilia abnormal neutrophil count abnormal granulocytopoietic cell morphology abnormal number of granulocyte precursors granulocytic hyperplasia abnormality of multiple cell lineages in the bone marrow neoplasm of head and neck fibrous tissue neoplasm myeloid leukemia chronic myelomonocytic leukemia abnormal autonomic nervous system morphology abnormal homeostasis abnormal eye morphology fatigue abnormal enzyme/coenzyme activity abnormality of brain morphology pain abnormal nervous system physiology abnormal nervous system morphology abnormal inflammatory response increased inflammatory response morphological abnormality of the gastrointestinal tract functional abnormality of the gastrointestinal tract anorectal anomaly macule cough neurodevelopmental abnormality abnormal male reproductive system physiology abnormal eosinophil count abnormality of enteric nervous system morphology abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology constitutional symptom abnormal esophagus physiology abnormal spleen morphology soft tissue sarcoma abnormal ocular adnexa morphology abnormality of cardiovascular system electrophysiology abnormal systemic blood pressure bone marrow hypercellularity flushing trophoblastic tumor abnormal ear physiology abnormal basophil count increased basophil count abnormal oral morphology elevated total serum tryptase abnormality of the ocular adnexa abnormal circulating metabolite concentration abnormal immune system morphology abnormal granulocyte count abnormality of the musculoskeletal system abnormal exteroceptive sensation gastrointestinal ulcer absent pigmentation of chest abnormality of limbs decreased head circumference abnormal levels of alpha-fetoprotein neoplasm of the peripheral nervous system sarcoma neoplasm of the colon immunologic hypersensitivity abnormal mast cell morphology mastocytosis cognitive impairment abnormal forebrain morphology telangiectasia of the skin angioedema gastrointestinal stroma tumor germ cell neoplasia neoplasm of the rectum esophageal neoplasm abnormality of the lymphatic system abnormal placenta morphology choriocarcinoma neoplasm of the small intestine neoplasm of the large intestine skin nodule asymmetry of iris pigmentation absent skin pigmentation cutaneous mastocytosis abnormality of the peripheral nervous system abnormal liver morphology alternative splicing atp-binding glycoprotein immunoglobulin domain kinase magnesium membrane metal-binding nucleotide-binding phosphoprotein proto-oncogene receptor repeat signal transferase transmembrane tyrosine-protein kinase ubl conjugation cytoplasm cell membrane disulfide bond transmembrane helix protein kinase domain serine-threonine/tyrosine-protein kinase, catalytic domain tyrosine-protein kinase, receptor class iii, conserved site immunoglobulin subtype 2 immunoglobulin subtype immunoglobulin-like domain tyrosine-protein kinase, active site protein kinase-like domain superfamily immunoglobulin immunoglobulin-like fold protein kinase, atp binding site tyrosine-protein kinase, catalytic domain mast/stem cell growth factor receptor immunoglobulin-like domain superfamily tyrosine kinase, catalytic domain immunoglobulin c-2 type immunoglobulin immunoglobulin like mapk cascade morphogenesis of a branching structure tissue homeostasis regulation of protein phosphorylation positive regulation of protein phosphorylation morphogenesis of an epithelium system process apoptotic process organelle organization cytoskeleton organization cell communication signal transduction small gtpase mediated signal transduction ras protein signal transduction cell-cell signaling multicellular organism development nervous system development central nervous system development brain development muscle organ development skeletal muscle tissue development behavior learning or memory learning visual behavior cell death cell population proliferation positive regulation of cell population proliferation associative learning visual learning response to radiation response to light stimulus response to abiotic stimulus anatomical structure morphogenesis animal organ morphogenesis tissue development positive regulation of metabolic process regulation of signal transduction positive regulation of signal transduction cellular process glial cell differentiation regulation of gene expression positive regulation of phosphorus metabolic process positive regulation of macromolecule metabolic process positive regulation of gene expression regulation of cell communication positive regulation of cell communication positive regulation of cell development regulation of cell death programmed cell death astrocyte development glial cell proliferation regulation of gliogenesis positive regulation of gliogenesis cellular component organization rac protein signal transduction regulation of phosphate metabolic process regulation of metabolic process glial cell development forebrain astrocyte differentiation forebrain astrocyte development neurogenesis regulation of signaling signaling positive regulation of signaling actin filament-based process actin cytoskeleton organization cell differentiation respiratory tube development lung development epithelial cell differentiation regulation of epithelial cell differentiation negative regulation of epithelial cell differentiation forebrain development regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of protein modification process positive regulation of protein modification process regulation of protein stability regulation of synaptic transmission, gabaergic multicellular organismal process developmental process regulation of rac protein signal transduction positive regulation of rac protein signal transduction tube morphogenesis tube development intracellular signal transduction skeletal muscle cell differentiation endocrine signaling gliogenesis regulation of cell population proliferation regulation of phosphorylation positive regulation of phosphorylation homeostatic process muscle cell differentiation regulation of apoptotic process negative regulation of apoptotic process regulation of programmed cell death negative regulation of programmed cell death regulation of neuron apoptotic process negative regulation of neuron apoptotic process regulation of cell differentiation negative regulation of cell differentiation positive regulation of cell differentiation positive regulation of phosphate metabolic process regulation of ras protein signal transduction positive regulation of ras protein signal transduction regulation of synaptic plasticity regulation of neuronal synaptic plasticity regulation of long-term neuronal synaptic plasticity cell development animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process regulation of response to stimulus positive regulation of response to stimulus astrocyte differentiation tissue morphogenesis system development branching morphogenesis of an epithelial tube anatomical structure development cellular developmental process multicellular organismal homeostasis homeostasis of number of cells homeostasis of number of cells within a tissue regulation of neurogenesis positive regulation of neurogenesis regulation of biological process regulation of developmental process regulation of cellular process modulation of chemical synaptic transmission nervous system process endocrine process cognition response to stimulus regulation of small gtpase mediated signal transduction positive regulation of small gtpase mediated signal transduction negative regulation of developmental process positive regulation of developmental process striated muscle cell differentiation regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process regulation of multicellular organismal process positive regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process neuron apoptotic process cellular response to stimulus regulation of nervous system development positive regulation of nervous system development anatomical structure homeostasis regulation of glial cell proliferation positive regulation of glial cell proliferation regulation of macromolecule metabolic process regulation of cell development head development lung morphogenesis lung epithelium development epithelium development epithelial tube branching involved in lung morphogenesis lung cell differentiation lung epithelial cell differentiation type i pneumocyte differentiation muscle tissue development skeletal muscle organ development respiratory system development negative regulation of cell death epithelial tube morphogenesis muscle structure development morphogenesis of a branching epithelium biological regulation regulation of biological quality neuron death cellular component organization or biogenesis regulation of primary metabolic process regulation of trans-synaptic signaling regulation of neuron death negative regulation of neuron death regulation of intracellular signal transduction positive regulation of intracellular signal transduction regulation of multicellular organismal development nucleotide binding catalytic activity gtpase activity g protein activity binding protein binding gtp binding pyrophosphatase activity hydrolase activity hydrolase activity, acting on acid anhydrides hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides purine nucleotide binding nucleoside-triphosphatase activity guanyl nucleotide binding gdp binding ribonucleotide binding purine ribonucleotide binding guanyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding identical protein binding ion binding anion binding protein-containing complex binding organic cyclic compound binding carbohydrate derivative binding molecular function regulator activity nucleoside phosphate binding heterocyclic compound binding golgi membrane intracellular anatomical structure cytoplasm mitochondrion mitochondrial envelope mitochondrial outer membrane endoplasmic reticulum endoplasmic reticulum membrane golgi apparatus cytosol plasma membrane focal adhesion cytoplasmic side of plasma membrane endomembrane system membrane outer membrane extrinsic component of plasma membrane extrinsic component of membrane cell junction cell-substrate junction organelle membrane extrinsic component of cytoplasmic side of plasma membrane mitochondrial membrane organelle envelope organelle outer membrane envelope organelle subcompartment nuclear outer membrane-endoplasmic reticulum membrane network organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle anchoring junction cell periphery side of membrane cytoplasmic side of membrane bounding membrane of organelle endoplasmic reticulum subcompartment cellular anatomical entity mixed, incl. small gtpase, ras-type, and ras-like guanine nucleotide exchange factor, n-terminal mixed, incl. signalling to erks, and ras gtpase-activating protein mixed, incl. inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and ras gtpase-activating protein mixed, incl. inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and cardiofaciocutaneous syndrome inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and cardiofaciocutaneous syndrome negative feedback regulation of mapk pathway, and ras gtpase cycle mutants sos-mediated signalling, and plexiform neurofibroma egfr tyrosine kinase inhibitor resistance endocrine resistance mapk signaling pathway erbb signaling pathway ras signaling pathway rap1 signaling pathway chemokine signaling pathway foxo signaling pathway sphingolipid signaling pathway phospholipase d signaling pathway mitophagy - animal autophagy - animal mtor signaling pathway pi3k-akt signaling pathway apoptosis longevity regulating pathway longevity regulating pathway - multiple species cellular senescence axon guidance vegf signaling pathway apelin signaling pathway gap junction signaling pathways regulating pluripotency of stem cells c-type lectin receptor signaling pathway natural killer cell mediated cytotoxicity t cell receptor signaling pathway b cell receptor signaling pathway fc epsilon ri signaling pathway thermogenesis long-term potentiation neurotrophin signaling pathway cholinergic synapse serotonergic synapse long-term depression regulation of actin cytoskeleton insulin signaling pathway gnrh signaling pathway progesterone-mediated oocyte maturation estrogen signaling pathway melanogenesis prolactin signaling pathway thyroid hormone signaling pathway oxytocin signaling pathway relaxin signaling pathway gnrh secretion age-rage signaling pathway in diabetic complications growth hormone synthesis, secretion and action aldosterone-regulated sodium reabsorption alzheimer disease alcoholism hepatitis c hepatitis b human cytomegalovirus infection human papillomavirus infection human t-cell leukemia virus 1 infection kaposi sarcoma-associated herpesvirus infection human immunodeficiency virus 1 infection pathways in cancer viral carcinogenesis proteoglycans in cancer micrornas in cancer colorectal cancer renal cell carcinoma pancreatic cancer endometrial cancer glioma prostate cancer thyroid cancer melanoma bladder cancer chronic myeloid leukemia acute myeloid leukemia non-small cell lung cancer breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer choline metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer hemostasis neurotransmitter receptors and postsynaptic signal transmission transmission across chemical synapses neuronal system irs-mediated signalling sos-mediated signalling downstream signaling events of b cell receptor (bcr) activation of ras in b cells signaling by fgfr in disease signaling by erbb2 signaling by erbb2 in cancer constitutive signaling by ligand-responsive egfr cancer variants signaling by erbb4 shc1 events in erbb2 signaling shc1 events in erbb4 signaling developmental biology cytokine signaling in immune system adaptive immune system signaling by scf-kit signal transduction disease signaling by egfr in cancer signaling by ntrks signalling to ras innate immune system immune system p38mapk events signaling by egfr grb2 events in egfr signaling shc1 events in egfr signaling downstream signal transduction signaling by pdgf signaling by ntrk1 (trka) signalling to erks signaling by fgfr signaling by vegf signaling by wnt grb2 events in erbb2 signaling cell surface interactions at the vascular wall tie2 signaling generic transcription pathway dap12 interactions egfr transactivation by gastrin signaling by type 1 insulin-like growth factor 1 receptor (igf1r) dap12 signaling igf1r signaling cascade irs-related events triggered by igf1r shc-related events triggered by igf1r fc epsilon receptor (fceri) signaling fceri mediated mapk activation signaling by gpcr ncam signaling for neurite out-growth beta-catenin independent wnt signaling gpcr downstream signalling ca2+ pathway g alpha (q) signalling events axon guidance post nmda receptor activation events vegfa-vegfr2 pathway creb1 phosphorylation through nmda receptor-mediated activation of ras signaling activation of nmda receptors and postsynaptic events ras activation upon ca2+ influx through nmda receptor vegfr2 mediated cell proliferation c-type lectin receptors (clrs) cd209 (dc-sign) signaling constitutive signaling by egfrviii signaling by egfrviii in cancer signaling by ligand-responsive egfr variants in cancer downstream signaling of activated fgfr1 shc-mediated cascade:fgfr1 frs-mediated fgfr1 signaling downstream signaling of activated fgfr2 shc-mediated cascade:fgfr2 frs-mediated fgfr2 signaling shc-mediated cascade:fgfr3 frs-mediated fgfr3 signaling downstream signaling of activated fgfr3 frs-mediated fgfr4 signaling downstream signaling of activated fgfr4 shc-mediated cascade:fgfr4 signaling by fgfr1 signaling by fgfr2 signaling by fgfr3 signaling by fgfr4 signaling by fgfr2 in disease signaling by fgfr4 in disease signaling by fgfr1 in disease signaling by fgfr3 in disease regulation of ras by gaps diseases of signal transduction by growth factor receptors and second messengers raf activation raf/map kinase cascade map2k and mapk activation negative regulation of mapk pathway mapk family signaling cascades mapk1/mapk3 signaling signaling by moderate kinase activity braf mutants signaling by high-kinase activity braf mutants signaling by ras mutants signaling by braf and raf1 fusions ras signaling downstream of nf1 loss-of-function variants paradoxical activation of raf signaling by kinase inactive braf oncogenic mapk signaling signaling by met rna polymerase ii transcription gene expression (transcription) insulin receptor signalling cascade signaling by insulin receptor gastrin-creb signalling pathway via pkc and mapk signaling by ptk6 ptk6 regulates rho gtpases, ras gtpase and map kinases met activates ras signaling transcriptional regulation by runx3 esr-mediated signaling runx3 regulates p14-arf signaling by ntrk2 (trkb) signaling by erythropoietin signaling by non-receptor tyrosine kinases signaling by nuclear receptors signaling by receptor tyrosine kinases extra-nuclear estrogen signaling activated ntrk2 signals through ras erythropoietin activates ras activated ntrk2 signals through frs2 and frs3 signaling by ntrk3 (trkc) activated ntrk3 signals through ras flt3 signaling constitutive signaling by overexpressed erbb2 estrogen-stimulated signaling through prkcz ras processing ras gtpase cycle mutants signaling downstream of ras mutants signaling by raf1 mutants signaling by erbb2 kd mutants signaling by erbb2 ecd mutants signaling by erbb2 tmd/jmd mutants signaling by kit in disease signaling by phosphorylated juxtamembrane, extracellular and kinase domain kit mutants signaling by pdgfr in disease signaling by pdgfra transmembrane, juxtamembrane and kinase domain mutants signaling by pdgfra extracellular domain mutants signaling by csf3 (g-csf) nervous system development signaling by csf1 (m-csf) in myeloid cells flt3 signaling in disease signaling by flt3 fusion proteins signaling by flt3 itd and tkd mutants signaling by ras gap mutants signaling by ras gtpase mutants signaling by the b cell receptor (bcr) il-5 signaling pathway alzheimers disease and mirna effects glioblastoma signaling pathways rala downstream regulated genes tnf-alpha signaling pathway oncostatin m signaling pathway aryl hydrocarbon receptor pathway nanoparticle-mediated activation of receptor signaling bladder cancer extracellular vesicle-mediated signaling in recipient cells rac1/pak1/p38/mmp2 pathway g protein signaling pathways bdnf-trkb signaling mapk signaling pathway pi3k-akt-mtor signaling pathway and therapeutic opportunities chemokine signaling pathway focal adhesion: pi3k-akt-mtor-signaling pathway mirna regulation of prostate cancer signaling pathways endometrial cancer pi3k-akt signaling pathway met in type 1 papillary renal cell carcinoma chromosomal and microsatellite instability in colorectal cancer  mapk cascade ras signaling epithelial to mesenchymal transition in colorectal cancer non-small cell lung cancer breast cancer pathway pancreatic adenocarcinoma pathway inhibition of exosome biogenesis and secretion by manumycin a in crpc cells thermogenesis non-genomic actions of 1,25 dihydroxyvitamin d3 egf/egfr signaling pathway relationship between inflammation, cox-2 and egfr envelope proteins and their potential roles in edmd physiopathology synaptic signaling pathways associated with autism spectrum disorder hippo-merlin signaling dysregulation fragile x syndrome gastrin signaling pathway hepatitis b infection head and neck squamous cell carcinoma melanoma egfr tyrosine kinase inhibitor resistance kisspeptin/kisspeptin receptor system in the ovary mapk pathway in congenital thyroid cancer regulation of actin cytoskeleton alzheimers disease metabolic reprogramming in pancreatic cancer erbb signaling pathway dna damage response (only atm dependent) serotonin receptor 2 and elk-srf/gata4 signaling lower respiratory tract disease monogenic disease respiratory system cancer respiratory system benign neoplasm gastrointestinal system benign neoplasm organ system cancer cell type cancer cardiomyopathy colorectal adenocarcinoma villous adenoma hypersensitivity reaction disease benign neoplasm cell type benign neoplasm organ system benign neoplasm cardiovascular organ benign neoplasm cardiofaciocutaneous syndrome colorectal carcinoma hepatobiliary system cancer rasopathy epidermal nevus oculoectodermal syndrome intestinal cancer ovarian disease heart disease female reproductive organ cancer leukemia cardiovascular system disease lung cancer disease of cellular proliferation lymphangioma reproductive system disease cecal disease cecum carcinoma colon carcinoma cecum cancer respiratory system disease integumentary system disease cancer endocrine gland cancer pancreatic cancer tumor of exocrine pancreas reproductive organ cancer rectal benign neoplasm rectum cancer ectodermal dysplasia malignant ovarian surface epithelial-stromal neoplasm ovary epithelial cancer colon cancer syndrome gonadal disease female reproductive system disease colon adenocarcinoma colonic benign neoplasm ovarian cancer hematologic cancer pancreas disease endocrine system disease immune system disease hypersensitivity reaction type iv disease adenocarcinoma mucinous adenocarcinoma carcinoma hepatobiliary disease gastrointestinal system cancer noonan syndrome pancreatic ductal adenocarcinoma pancreatic ductal carcinoma ovarian cystadenocarcinoma lung benign neoplasm skin disease ovary adenocarcinoma lung carcinoma lung non-small cell carcinoma lung adenocarcinoma disease ovarian carcinoma pancreatic adenocarcinoma bile duct disease large cell carcinoma bile duct cancer biliary tract cancer intestinal benign neoplasm bile duct adenocarcinoma bile duct carcinoma pancreatic carcinoma cholangiocarcinoma intestinal disease colonic disease lung adenoma large intestine cancer ovarian serous cystadenocarcinoma benign vascular tumor genetic disease adenoma autoimmune lymphoproliferative syndrome disease of anatomical entity hematopoietic system disease gastrointestinal system disease lung disease myeloid leukemia acute myeloid leukemia colorectal cancer biliary tract disease tissues, cell types and enzyme sources intestinal cell line animal alimentary canal male reproductive gland reproductive system male reproductive system female reproductive system brain adenocarcinoma cell line carcinoma cell cervical carcinoma cell pancreatic cell line colonic cell line respiratory system central nervous system female reproductive gland colon colon transversum head carcinoma cell line panc-1 cell digestive gland lung cell line dld-1 cell epithelioma cell exocrine pancreas gastrointestinal tract gland gonad lung cancer cell colonic cancer cell adenocarcinoma cell colon descendens colon sigmoideum left colon intestine right colon large intestine lung cancer cell line lung pancreatic cancer cell line colonic cancer cell line pancreas epithelial cell line testis nervous system endocrine gland whole body viscus rectal cell line pancreatic adenocarcinoma cell line rectal cancer cell line gastrointestinal cancer cell sw-48 cell colorectum colorectal cell line colorectal cancer cell colorectal cancer cell line bxpc-3 cell aspc-1 cell colonic adenocarcinoma cell line colorectal adenocarcinoma cell line miapaca-2 cell calu-6 cell pancreatic duct pancreatic ductal carcinoma cell non-small cell lung cancer cell line capan-2 cell nci-h358 cell calu-1 cell sklu-1 cell pancreatic ductal adenocarcinoma cell urogenital system internal male genital organ panin cell pancreatic ductal adenocarcinoma cell line cfpac-1 cell golgi membrane intracellular cytoplasm mitochondrion mitochondrial envelope mitochondrial outer membrane endoplasmic reticulum endoplasmic reticulum membrane golgi apparatus cytosol plasma membrane focal adhesion cytoplasmic side of plasma membrane endomembrane system membrane outer membrane extrinsic component of plasma membrane extrinsic component of membrane cell junction cell-substrate junction organelle membrane extrinsic component of cytoplasmic side of plasma membrane mitochondrial membrane organelle envelope organelle outer membrane envelope organelle subcompartment nuclear outer membrane-endoplasmic reticulum membrane network organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle anchoring junction cell periphery side of membrane cytoplasmic side of membrane bounding membrane of organelle endoplasmic reticulum subcompartment cellular anatomical entity cardiovascular disease disease ischemia sign or symptom heart disease pain cleft lip glycoprotein measurement sex hormone-binding globulin measurement hormone measurement protein measurement heart valve disease mitral valve disease sex hormone measurement abnormality of body height abnormal morphology of female internal genitalia abnormality of the bladder cryptorchidism abnormality of male external genitalia abnormal testis morphology abnormal penis morphology epispadias hypogonadotropic hypogonadism hypospadias abnormality of the ureter abnormality of the kidney abnormality of the genital system abnormality of the urinary system abnormality of reproductive system physiology horseshoe kidney tall stature phenotypic abnormality abnormality of the genitourinary system hydronephrosis hypogonadism abnormality of the ovary abnormality of head or neck abnormality of the mouth abnormal lip morphology abnormal oral cavity morphology abnormality of the dentition abnormal palate morphology cleft palate submucous cleft hard palate abnormal upper lip morphology abnormal lower lip morphology thick lower lip vermilion oral cleft cleft upper lip high palate abnormality of the head abnormality of the fontanelles or cranial sutures hydrocephalus abnormality of skull size parietal bossing macrocephaly cranial asymmetry dolichocephaly prominent occiput abnormality of the face long face abnormal mandible morphology coarse facial features epicanthus abnormality of the philtrum abnormality of the forehead full cheeks abnormal midface morphology abnormality of the orbital region hypertelorism facial asymmetry triangular face broad forehead long philtrum micrognathia high forehead abnormality of the outer ear abnormal location of ears posteriorly rotated ears abnormality of the inner ear hearing abnormality hearing impairment abnormality of the nose low-set, posteriorly rotated ears low-set ears abnormal pinna morphology thickened helices macrotia sensorineural hearing impairment abnormal nasal bridge morphology abnormal morphology of the nasal alae wide nasal bridge anteverted nares abnormality of the neck webbed neck short neck thickened nuchal skin fold cystic hygroma abnormality of the eye abnormal cornea morphology microcornea astigmatism strabismus abnormal eyelid morphology downslanted palpebral fissures abnormality of eye movement abnormal eyelash morphology abnormal conjunctiva morphology abnormality of vision telecanthus ptosis proptosis abnormality iris morphology abnormal eyebrow morphology abnormality of refraction myopia abnormal conjugate eye movement abnormal uvea morphology microphthalmia blepharophimosis abnormality of the optic nerve coloboma abnormal sclera morphology ophthalmoparesis abnormality of the ear ophthalmoplegia abnormality of the periorbital region iris coloboma eyelid coloboma long palpebral fissure nystagmus optic atrophy abnormality of the nervous system behavioral abnormality hyperactivity abnormal peripheral nervous system morphology peripheral axonal degeneration abnormal thorax morphology abnormal sternum morphology pectus excavatum pectus carinatum abnormality of the breast abnormality of the urethra abnormal external genitalia abnormal internal genitalia abnormality of the endocrine system diabetes mellitus precocious puberty shield chest abnormality of the skeletal system abnormality of the vertebral column abnormality of skeletal maturation abnormal skull morphology abnormal posterior cranial fossa morphology osteopenia abnormal diaphysis morphology abnormality of the skin jaundice hyperpigmentation of the skin cafe-au-lait spot dry skin hyperkeratosis edema palmoplantar hyperkeratosis cutis laxa hyperextensible skin bruising susceptibility palmoplantar keratoderma melanocytic nevus abnormality of skin pigmentation multiple lentigines lymphedema dermatological manifestations of systemic disorders hypopigmentation of the skin abnormal palmar dermatoglyphics hemangioma hypermelanotic macule cavernous hemangioma aplasia cutis congenita thickened skin abnormal fundus morphology abnormality of corneal size limbal dermoid abnormality of the hand brachydactyly abnormality of finger abnormality of prenatal development or birth abnormal fingernail morphology intellectual disability seizure hypotonia dysarthria global developmental delay abnormal corpus callosum morphology agenesis of corpus callosum stroke dandy-walker malformation abnormal nervous system electrophysiology reduced tendon reflexes abnormal cerebellum morphology cerebellar vermis hypoplasia cerebellar hypoplasia muscle weakness absent septum pellucidum hyperreflexia megalencephaly plagiocephaly craniosynostosis abnormal joint morphology joint hypermobility abnormality of the liver cholestasis hepatosplenomegaly abnormal abdomen morphology growth abnormality failure to thrive growth delay hemihypertrophy failure to thrive in infancy abnormal rib cage morphology overgrowth abnormality of the amniotic fluid polyhydramnios abnormality of the integument redundant skin abnormal hair morphology alopecia abnormality of the nail abnormality of the larynx premature birth abnormality of the cardiovascular system abnormal heart morphology ventricular septal defect atrial septal defect abnormal mitral valve morphology mitral valve prolapse abnormal myocardium morphology cardiomyopathy hypertrophic cardiomyopathy abnormal pulmonary valve morphology pulmonic stenosis patent ductus arteriosus abnormal heart valve morphology patent foramen ovale abnormal cardiac septum morphology abnormal aortic morphology coarctation of aorta abnormal tricuspid valve morphology tricuspid valve prolapse abnormal cardiac ventricle morphology abnormality of the pancreas exocrine pancreatic insufficiency abnormality of the spleen splenomegaly abnormal foot morphology abnormality of toe weight loss abnormality of blood and blood-forming tissues abnormality of thrombocytes thrombocytopenia abnormality of neutrophils neutropenia pancytopenia abnormal erythrocyte morphology hemolytic anemia abnormal leukocyte morphology abnormal bleeding anemia leukemia abnormal granulocyte morphology abnormality of coagulation subcutaneous hemorrhage abnormality of metabolism/homeostasis glucose intolerance abnormal scalp morphology autoimmune thrombocytopenia leukocytosis abnormal facial shape frontal bossing morphological central nervous system abnormality abnormality of the abdominal organs diarrhea nausea and vomiting abdominal pain anorexia cerebral atrophy abnormal cerebral morphology abnormality of the respiratory system abnormality of the upper respiratory tract abnormal lung morphology abnormal cerebral ventricle morphology ventriculomegaly cerebral cortical atrophy porencephalic cyst hypophosphatemia low posterior hairline neurological speech impairment dilated fourth ventricle recurrent respiratory infections coarse hair curly hair fine hair slow-growing hair absent eyebrow hepatomegaly abnormal intestine morphology abnormal large intestine morphology aganglionic megacolon intermittent diarrhea abnormality of the autonomic nervous system absent hair brittle hair chiari malformation transient ischemic attack abnormal cerebellar vermis morphology cerebellar cyst eeg abnormality cerebral arteriovenous malformation cerebellar malformation acute leukemia abnormal cerebral white matter morphology cerebral calcification abnormal cerebral cortex morphology supernumerary nipple abnormal stomach morphology gastrointestinal dysmotility atrophic gastritis abnormality of the peritoneum abnormality of the vasculature cerebral ischemia scoliosis increased susceptibility to fractures neoplasm lymphoma basal cell carcinoma abnormal calvaria morphology hypoplastic facial bones abnormality of the skull base abnormal parietal bone morphology abnormality of the immune system lymphadenopathy recurrent infections follicular hyperplasia decreased lymphocyte apoptosis abnormal lymph node morphology rickets delayed skeletal maturation kyphoscoliosis recurrent fractures kyphosis abnormality of limb bone morphology abnormality of the lower limb abnormality of the knee genu recurvatum abnormality of the upper limb abnormal morphology of the radius bladder exstrophy genu valgum melanoma bladder carcinoma neoplasm of the pancreas neoplasm of the liver elevated hepatic transaminase abnormal cerebrospinal fluid morphology autoimmunity cubitus valgus abnormal forearm morphology radioulnar synostosis aplasia/hypoplasia involving the central nervous system bowing of the legs abnormality of the calf obsolete abnormality of the ulna breast carcinoma colon cancer abnormality of the musculature hyperphosphaturia abnormality of urine homeostasis abnormal blood ion concentration short nose visceromegaly abnormality of the cervical spine abnormal bone structure back pain vertebral segmentation defect abnormal vertebral morphology peripheral axonal neuropathy nevus abnormal muscle tone deviation of finger abnormal 5th finger morphology clinodactyly of the 5th finger short palm abnormal gastric mucosa morphology abnormality of the biliary system abnormality of the abdominal wall short stature abnormality of body weight decreased body weight abnormal anterior eye segment morphology abnormal posterior eye segment morphology abnormal lymphocyte morphology abnormality of bone mineral density reduced bone mineral density abnormality of enteric ganglion morphology hematological neoplasm intestinal pseudo-obstruction poor appetite abnormal nipple morphology abnormality of the pulmonary artery pulmonary artery stenosis biparietal narrowing abnormal cheek morphology sagittal craniosynostosis lambdoidal craniosynostosis gastrointestinal obstruction acute myeloid leukemia hypophosphatemic rickets abnormality of the pulmonary vasculature arteriovenous fistula abnormal nasal morphology abnormal cardiac atrium morphology functional intestinal obstruction gastritis depressed nasal bridge hypoplastic nasal bridge abnormal nostril morphology abnormality of humoral immunity abnormality of b cell physiology enlarged posterior fossa lymphoproliferative disorder abnormality of bone marrow cell morphology abnormal tracheobronchial morphology joint hyperflexibility abnormal hand morphology aplasia/hypoplasia involving bones of the hand deep palmar crease abnormality of dental morphology bowing of the long bones aplasia/hypoplasia involving bones of the upper limbs alveolar cell carcinoma wide intermamillary distance abnormal atrioventricular valve morphology pancreatic adenocarcinoma transitional cell carcinoma of the bladder neoplasm of the stomach aplasia/hypoplasia of the cerebellar vermis chiari type i malformation hemimegalencephaly aplasia/hypoplasia of the cerebellum aplasia/hypoplasia of the cerebrum atrophy/degeneration affecting the central nervous system atrophy/degeneration affecting the cerebrum aplasia/hypoplasia of the corpus callosum abnormal septum pellucidum morphology neoplasm of the gastrointestinal tract neoplasm of the genitourinary tract excessive wrinkled skin irregular hyperpigmentation generalized hyperpigmentation hemangiomatosis abnormal dermatoglyphics prematurely aged appearance plantar hyperkeratosis multiple cafe-au-lait spots opacification of the corneal stroma corneal opacity abnormality of the palpebral fissures aplasia/hypoplasia affecting the eye ichthyosis aplasia/hypoplasia of the skin abnormally lax or hyperextensible skin neoplasm of the skin sparse hair puberty and gonadal disorders dystrophic fingernails nail dystrophy laryngeal hypoplasia feeding difficulties in infancy aplasia/hypoplasia involving the skeleton aplasia/hypoplasia involving bones of the skull aplasia/hypoplasia of the mandible abnormal axial skeleton morphology aplasia/hypoplasia affecting bones of the axial skeleton deviation of the 5th finger deviation of the hand or of fingers of the hand abnormality of the hairline adenoma sebaceum bladder neoplasm abnormality of upper limb joint abnormality of the elbow aplasia/hypoplasia of the extremities peripheral neuropathy underdeveloped supraorbital ridges aplasia/hypoplasia of the abdominal wall musculature abnormal ventricular septum morphology abnormality of the female genitalia abnormality of the male genitalia abnormality of the palmar creases hyperextensibility of the knee intracranial cystic lesion fibroma angiofibromas abnormal elasticity of skin abnormal meningeal morphology abnormal zygomatic bone morphology hypoplasia of the zygomatic bone abnormality of the curvature of the vertebral column abnormal immunoglobulin level increased circulating antibody level abnormality of hair texture abnormal hair pattern palmar hyperkeratosis ectopic calcification gonadal neoplasm urinary tract neoplasm genital neoplasm nevus sebaceous epidermal nevus linear nevus sebaceous abnormality of the upper urinary tract abnormality of the lower urinary tract abnormal external nose morphology abnormal renal pelvis morphology dilatation of the renal pelvis abnormal fourth ventricle morphology abnormal myeloid leukocyte morphology abnormality of immune system physiology abnormal cellular immune system morphology abnormal morphology of the abdominal musculature abnormal cerebral subcortex morphology abnormal systemic arterial morphology abnormal glucose homeostasis abnormal cellular physiology abnormality of the gastrointestinal tract abnormal cardiovascular system physiology abnormality of fluid regulation abnormal helix morphology abnormality of dental structure abnormality of dental color abnormality of skin morphology abnormality of skin adnexa morphology abnormal shape of the occiput abnormal shape of the frontal region aplasia/hypoplasia of the eyelid vascular skin abnormality abnormality of the urinary system physiology abnormal hindbrain morphology abnormal metencephalon morphology abnormal digit morphology abnormal long bone morphology unilambdoid synostosis left unilambdoid synostosis abnormality of cranial sutures generalized abnormality of skin localized skin lesion regional abnormality of skin congenital abnormal hair pattern abnormal hair quantity abnormality of hair growth rate epidermal thickening morphological abnormality of the vestibule of the inner ear morphological abnormality of the semicircular canal aplasia of the semicircular canal functional abnormality of the inner ear morphological abnormality of the inner ear fetal ultrasound soft marker abnormality of higher mental function abdominal symptom abnormal corneal stroma morphology congenital malformation of the great arteries arrhythmia abnormality of joint mobility neoplasm by histology neoplasm by anatomical site abnormality of facial soft tissue midface retrusion abnormal muscle physiology abnormal skeletal muscle morphology abnormal facial skeleton morphology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology abnormal bone ossification abnormal platelet function abnormal platelet count abnormal platelet morphology abnormal leukocyte count anemia due to reduced life span of red cells short digit respiratory tract infection feeding difficulties abnormal neutrophil count abnormal atrial septum morphology abnormality of pancreas physiology abnormality of exocrine pancreas physiology stomach cancer abnormal monocyte morphology abnormality of multiple cell lineages in the bone marrow juvenile myelomonocytic leukemia abnormal renal morphology abnormal reproductive system morphology abnormal respiratory system morphology abnormal occipital bone morphology abnormal monocyte count monocytosis fibrous tissue neoplasm myeloid leukemia abnormal autonomic nervous system morphology extrahepatic cholestasis abnormal homeostasis abnormal eye morphology abnormal eye physiology fatigue abnormal enzyme/coenzyme activity chronic fatigue abnormality of brain morphology brain atrophy thick vermilion border pain abnormal involuntary eye movements abnormal urinary electrolyte concentration abnormal urine phosphate concentration abnormal nervous system physiology abnormal nervous system morphology morphological abnormality of the gastrointestinal tract functional abnormality of the gastrointestinal tract macule short palpebral fissure neurodevelopmental delay neurodevelopmental abnormality abnormal optic disc morphology anisometropia abnormal vascular morphology abnormality of enteric nervous system morphology abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology constitutional symptom ovarian carcinoma abnormal arterial physiology abnormal cellular phenotype abnormal spleen morphology abnormal larynx morphology abnormality of bladder morphology abscess fetal neck anomaly abnormal neck morphology lung adenocarcinoma clinodactyly abnormality of the posterior hairline abnormal vascular physiology abnormality of central nervous system electrophysiology non-small cell lung carcinoma soft tissue sarcoma abnormal ocular adnexa morphology abnormality of cardiovascular system morphology central nervous system cyst abnormal jaw morphology scaphocephaly abnormal lymphocyte apoptosis abnormal gastrointestinal motility abnormality of cardiovascular system electrophysiology abnormal morphology of the great vessels abnormal pulmonary artery morphology abnormal breast morphology abnormal lymphocyte physiology abnormal heart valve physiology abnormal pulmonary valve physiology abnormal ear morphology abnormal ear physiology abnormal oral morphology abnormal reflex abnormal urine carbohydrate level abnormality of the ocular adnexa abnormal male urethral meatus morphology unusual infection abnormal circulating metabolite concentration abnormal immune system morphology abnormal granulocyte count abnormality of the musculoskeletal system abnormal blood vessel morphology abnormal urine metabolite level tissue ischemia thin corpus callosum abnormal leukocyte physiology fetal anomaly abnormal fetal morphology abnormal temporal lobe morphology aplasia/hypoplasia of facial bones abnormal joint physiology finger clinodactyly abnormality of limbs abnormality of limb bone abnormal upper limb bone morphology abnormal morphology of ulna abnormal forearm bone morphology abnormal lymphocyte count abnormal intermamillary distance abnormality of hair growth increased head circumference abnormal skin morphology of the palm aplasia/hypoplasia involving bones of the extremities early onset of sexual maturation neoplasm of the breast abnormality of movement arteriovenous malformation abnormality of the scalp hair synostosis involving bones of the upper limbs synostosis of joints sarcoma neoplasm of the colon abnormality of lower limb joint neoplasm of the lung abnormal blood phosphate concentration abnormality of the supraorbital ridges abnormal localization of kidney cognitive impairment abnormal forebrain morphology exstrophy neoplasm of the tracheobronchial system asymmetric growth lower limb asymmetry peritoneal abscess neoplasm of the respiratory system ovarian neoplasm enlarged thorax displacement of the urethral meatus abnormal cerebral vascular morphology premature skin wrinkling abnormality of the curvature of the cornea abnormal arachnoid mater morphology arachnoid cyst large face vascular neoplasm visceral angiomatosis abnormality of the lymphatic system peripheral arteriovenous fistula lymphocytosis neoplasm of the large intestine aplasia/hypoplasia of the eyebrow abnormal palm morphology abnormality of the plantar skin of foot abnormality of globe location abnormality of globe size slanting of the palpebral fissure abnormal size of the palpebral fissures sparse or absent eyelashes abnormality of the peripheral nervous system cleft lip submucous cleft of soft and hard palate abnormal liver morphology increased level of l-fucose in urine abnormal frontal bone morphology acetylation alternative splicing ectodermal dysplasia cardiomyopathy deafness gtp-binding lipoprotein membrane methylation nucleotide-binding palmitate prenylation proto-oncogene ubl conjugation cytoplasm cell membrane isopeptide bond small gtpase small gtp-binding protein domain small gtpase, ras-type p-loop containing nucleoside triphosphate hydrolase ras subfamily of ras small gtpases carbohydrate metabolic process organic acid metabolic process lactate metabolic process pyruvate metabolic process generation of precursor metabolites and energy glycolytic process nucleobase-containing compound metabolic process purine nucleotide metabolic process nucleoside diphosphate phosphorylation cellular aromatic compound metabolic process nucleoside phosphate metabolic process atp generation from adp phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process multicellular organism development nervous system development central nervous system development brain development metabolic process catabolic process nucleotide metabolic process nucleoside diphosphate metabolic process purine nucleoside diphosphate metabolic process nucleoside triphosphate metabolic process purine nucleoside triphosphate metabolic process purine ribonucleotide metabolic process purine ribonucleoside diphosphate metabolic process ribonucleoside diphosphate metabolic process ribonucleoside triphosphate metabolic process purine ribonucleoside triphosphate metabolic process ribonucleotide metabolic process cellular process carbohydrate catabolic process phosphorylation organophosphate metabolic process ribose phosphate metabolic process carboxylic acid metabolic process substantia nigra development midbrain development multicellular organismal process developmental process monocarboxylic acid metabolic process cellular nitrogen compound metabolic process oxoacid metabolic process cellular metabolic process primary metabolic process small molecule metabolic process adp metabolic process atp metabolic process heterocycle metabolic process nucleotide phosphorylation animal organ development system development anatomical structure development neural nucleus development nucleobase-containing small molecule metabolic process head development organic substance metabolic process purine-containing compound metabolic process carbohydrate derivative metabolic process organic cyclic compound metabolic process organonitrogen compound metabolic process organic substance catabolic process organic hydroxy compound metabolic process catalytic activity lactate dehydrogenase activity l-lactate dehydrogenase activity binding protein binding oxidoreductase activity oxidoreductase activity, acting on ch-oh group of donors oxidoreductase activity, acting on the ch-oh group of donors, nad or nadp as acceptor identical protein binding cadherin binding cell adhesion molecule binding extracellular region extracellular space intracellular anatomical structure nucleus cytoplasm cytosol membrane integral component of membrane intrinsic component of membrane vesicle protein-containing complex organelle membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle extracellular membrane-bounded organelle extracellular exosome cellular anatomical entity catalytic complex extracellular vesicle oxidoreductase complex carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism citrate cycle (tca cycle), and pyruvate metabolism citrate cycle (tca cycle), and lactate dehydrogenase activity pyruvate metabolism, and aspartate biosynthetic process lactate dehydrogenase activity, and malic oxidoreductase l-lactate dehydrogenase, and pyruvate kinase glycolysis / gluconeogenesis cysteine and methionine metabolism pyruvate metabolism propanoate metabolism metabolic pathways hif-1 signaling pathway glucagon signaling pathway central carbon metabolism in cancer the citric acid (tca) cycle and respiratory electron transport metabolism pyruvate metabolism pyruvate metabolism and citric acid (tca) cycle cori cycle hif1a and pparg regulation of glycolysis photodynamic therapy-induced hif-1 survival signaling vegfa-vegfr2 signaling amino acid metabolism clear cell renal cell carcinoma pathways pi3k/akt/mtor - vitamin d3 signaling hereditary leiomyomatosis and renal cell carcinoma pathway krebs cycle disorders metabolic reprogramming in colon cancer aerobic glycolysis glycolysis in senescence ccl18 signaling pathway glyoxylate metabolism glucose metabolism in triple-negative breast cancer cells metabolic reprogramming in pancreatic cancer metabolic pathways of fibroblasts lactate shuttle in glial cells glycolysis and gluconeogenesis disease of metabolism glycogen metabolism disorder glycogen storage disease carbohydrate metabolic disorder disease genetic disease inherited metabolic disorder tissues, cell types and enzyme sources abdomen gastric adenocarcinoma cell renal cell carcinoma cell animal alimentary canal male reproductive gland reproductive system male reproductive system female reproductive system cardiovascular system blood ascites bone marrow brain embryonic structure carcinoma cell cervical carcinoma cell sense organ respiratory system central nervous system female reproductive gland head organism form digestive gland epithelioma cell excretory gland eye fetus gastric cancer cell gastrointestinal tract gland gonad heart hematopoietic system hematopoietic cell blood cancer cell bone marrow cancer cell adenocarcinoma cell integument intestine kidney kidney cancer cell lymphocytic leukemia cell leukocyte lymphoid tissue liver lung lymphoblast lymphocyte lymphoma cell muscle esophagus ovary placenta lymphoid cell prostate gland urinary tract skin leukemia cell stomach testis thorax umbilical cord uterine cervix uterus nervous system muscular system skeletal system endocrine gland whole body viscus trunk chronic lymphocytic leukemia cell b-cell lymphoma cell urogenital system urinary system internal male genital organ internal female genital organ immune system extracellular region extracellular space intracellular nucleus cytoplasm cytosol vesicle protein-containing complex organelle membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle transferase complex, transferring phosphorus-containing groups extracellular membrane-bounded organelle extracellular exosome cellular anatomical entity catalytic complex pyruvate kinase complex extracellular vesicle oxidoreductase complex transferase complex glucose transporter complex transporter complex hematological measurement metabolite measurement serum amyloid a protein measurement lipoprotein measurement protein measurement l lactate dehydrogenase measurement alpha globulin measurement inflammatory biomarker measurement lipid or lipoprotein measurement serum metabolite measurement abnormality of the kidney abnormality of the urinary system renal insufficiency phenotypic abnormality abnormality of the genitourinary system abnormality of the nervous system abnormality of the skin pruritus parakeratosis thickened skin abnormality of prenatal development or birth hypertonia abnormality of the integument abnormal delivery acute kidney injury abnormality of metabolism/homeostasis acidosis heat intolerance rigidity increased serum lactate abnormality of the immune system elevated hepatic transaminase myoglobinuria abnormality of the musculature hypercalcemia abnormality of urine homeostasis abnormal blood ion concentration rhabdomyolysis elevated circulating creatine kinase concentration myalgia easy fatigability muscle spasm increased serum pyruvate exercise intolerance muscle stiffness exercise-induced myalgia abnormal muscle tone functional motor deficit abnormality of acid-base homeostasis abnormal circulating calcium concentration abnormal circulating nitrogen compound concentration abnormality of glycolysis abnormality of temperature regulation intermittent generalized erythematous papular rash exercise-induced myoglobinuria elevated creatine kinase after exercise exercise-induced rhabdomyolysis abnormal circulating protein concentration abnormal blood inorganic cation concentration abnormal blood cation concentration abnormality of the upper urinary tract abnormality of immune system physiology abnormal circulating carbohydrate concentration abnormality of circulating enzyme level abnormality of skin morphology abnormality of skin physiology inflammatory abnormality of the skin abnormal epidermal morphology abnormality of the urinary system physiology localized skin lesion regional abnormality of skin epidermal thickening abnormal muscle physiology abnormal skeletal muscle morphology abnormal renal physiology abnormal homeostasis abnormal enzyme/coenzyme activity pain chronic kidney disease abnormal nervous system physiology abnormal inflammatory response increased inflammatory response constitutional symptom erythematous plaque psoriasiform lesion annular cutaneous lesion superficial dermal perivascular inflammatory infiltrate neutrophilic infiltration of the skin predominantly dermal neutrophilic infiltrate abnormal circulating metabolite concentration abnormality of the musculoskeletal system abnormal urine metabolite level abnormal circulating creatine kinase concentration scaling skin abnormal lactate dehydrogenase level papule skin plaque pustule acetylation alternative splicing glycogen storage disease nad oxidoreductase phosphoprotein ubl conjugation cytoplasm isopeptide bond lactate/malate dehydrogenase, nad binding domain lactate/malate dehydrogenase, alpha/beta c-terminal domain lactate/malate dehydrogenase, n-terminal l-lactate/malate dehydrogenase l-lactate dehydrogenase lactate dehydrogenase/glycoside hydrolase, family 4, c-terminal l-lactate dehydrogenase, active site lactate/malate dehydrogenase, c-terminal nad(p)-binding domain superfamily organic acid metabolic process metabolic process cellular process carboxylic acid metabolic process oxoacid metabolic process cellular metabolic process small molecule metabolic process organic substance metabolic process catalytic activity lactate dehydrogenase activity l-lactate dehydrogenase activity oxidoreductase activity oxidoreductase activity, acting on ch-oh group of donors oxidoreductase activity, acting on the ch-oh group of donors, nad or nadp as acceptor extracellular region extracellular space intracellular anatomical structure cytoplasm vesicle organelle membrane-bounded organelle extracellular organelle extracellular membrane-bounded organelle extracellular exosome cellular anatomical entity extracellular vesicle carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism citrate cycle (tca cycle), and pyruvate metabolism citrate cycle (tca cycle), and lactate dehydrogenase activity pyruvate metabolism, and aspartate biosynthetic process aspartate biosynthetic process, and alanine metabolism glycolysis / gluconeogenesis cysteine and methionine metabolism pyruvate metabolism propanoate metabolism metabolic pathways hif-1 signaling pathway glucagon signaling pathway central carbon metabolism in cancer the citric acid (tca) cycle and respiratory electron transport metabolism pyruvate metabolism pyruvate metabolism and citric acid (tca) cycle intracellular cytoplasm cellular anatomical entity acetylation nad oxidoreductase phosphoprotein ubl conjugation cytoplasm isopeptide bond lactate/malate dehydrogenase, nad binding domain lactate/malate dehydrogenase, alpha/beta c-terminal domain lactate/malate dehydrogenase, n-terminal l-lactate/malate dehydrogenase l-lactate dehydrogenase lactate dehydrogenase/glycoside hydrolase, family 4, c-terminal l-lactate dehydrogenase, active site lactate/malate dehydrogenase, c-terminal nad(p)-binding domain superfamily organic acid metabolic process lactate metabolic process pyruvate metabolic process metabolic process cellular process carboxylic acid metabolic process monocarboxylic acid metabolic process oxoacid metabolic process cellular metabolic process small molecule metabolic process organic substance metabolic process organic hydroxy compound metabolic process catalytic activity lactate dehydrogenase activity l-lactate dehydrogenase activity oxidoreductase activity oxidoreductase activity, acting on ch-oh group of donors oxidoreductase activity, acting on the ch-oh group of donors, nad or nadp as acceptor intracellular anatomical structure nucleus cytoplasm mitochondrion mitochondrial matrix membrane-enclosed lumen protein-containing complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen intracellular organelle lumen cellular anatomical entity catalytic complex oxidoreductase complex carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism citrate cycle (tca cycle), and pyruvate metabolism citrate cycle (tca cycle), and lactate dehydrogenase activity pyruvate metabolism, and aspartate biosynthetic process lactate dehydrogenase activity, and malic oxidoreductase glycolysis / gluconeogenesis cysteine and methionine metabolism pyruvate metabolism propanoate metabolism metabolic pathways hif-1 signaling pathway glucagon signaling pathway central carbon metabolism in cancer the citric acid (tca) cycle and respiratory electron transport metabolism pyruvate metabolism pyruvate metabolism and citric acid (tca) cycle glycolysis and gluconeogenesis tissues, cell types and enzyme sources animal male reproductive gland reproductive system male reproductive system female reproductive system female reproductive gland gland gonad testis endocrine gland whole body urogenital system internal male genital organ intracellular cytoplasm mitochondrion organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle cellular anatomical entity nad oxidoreductase lactate/malate dehydrogenase, nad binding domain lactate/malate dehydrogenase, alpha/beta c-terminal domain lactate/malate dehydrogenase, n-terminal l-lactate/malate dehydrogenase l-lactate dehydrogenase lactate dehydrogenase/glycoside hydrolase, family 4, c-terminal l-lactate dehydrogenase, active site lactate/malate dehydrogenase, c-terminal nad(p)-binding domain superfamily reproduction cilium or flagellum-dependent cell motility cilium movement organic acid metabolic process lactate metabolic process pyruvate metabolic process nucleobase-containing compound metabolic process purine nucleotide metabolic process purine nucleotide biosynthetic process cellular aromatic compound metabolic process nucleoside phosphate metabolic process atp biosynthetic process phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process microtubule-based process microtubule-based movement metabolic process biosynthetic process nucleotide metabolic process nucleoside triphosphate metabolic process nucleoside triphosphate biosynthetic process purine nucleoside triphosphate metabolic process purine nucleoside triphosphate biosynthetic process purine ribonucleotide metabolic process purine ribonucleotide biosynthetic process nucleotide biosynthetic process ribonucleoside triphosphate metabolic process ribonucleoside triphosphate biosynthetic process purine ribonucleoside triphosphate metabolic process purine ribonucleoside triphosphate biosynthetic process ribonucleotide metabolic process ribonucleotide biosynthetic process cellular process organic acid biosynthetic process heterocycle biosynthetic process lactate biosynthetic process from pyruvate lactate biosynthetic process aromatic compound biosynthetic process lactate oxidation organophosphate metabolic process ribose phosphate metabolic process carboxylic acid metabolic process reproductive process flagellated sperm motility monocarboxylic acid metabolic process cellular nitrogen compound metabolic process nucleobase-containing compound biosynthetic process oxoacid metabolic process cellular metabolic process primary metabolic process cellular biosynthetic process cellular nitrogen compound biosynthetic process small molecule metabolic process small molecule biosynthetic process atp metabolic process ribose phosphate biosynthetic process carboxylic acid biosynthetic process heterocycle metabolic process cell motility nucleobase-containing small molecule metabolic process cilium-dependent cell motility cilium movement involved in cell motility organic substance metabolic process monocarboxylic acid biosynthetic process purine-containing compound metabolic process purine-containing compound biosynthetic process organophosphate biosynthetic process sperm motility carbohydrate derivative metabolic process carbohydrate derivative biosynthetic process nucleoside phosphate biosynthetic process organic cyclic compound metabolic process organic cyclic compound biosynthetic process organonitrogen compound metabolic process organonitrogen compound biosynthetic process organic substance biosynthetic process organic hydroxy compound metabolic process organic hydroxy compound biosynthetic process catalytic activity lactate dehydrogenase activity l-lactate dehydrogenase activity oxidoreductase activity oxidoreductase activity, acting on ch-oh group of donors oxidoreductase activity, acting on the ch-oh group of donors, nad or nadp as acceptor extracellular region extracellular space intracellular anatomical structure nucleus cytoplasm cytosol cilium membrane integral component of membrane intrinsic component of membrane motile cilium vesicle protein-containing complex cell projection organelle membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle extracellular membrane-bounded organelle extracellular exosome cellular anatomical entity plasma membrane bounded cell projection catalytic complex extracellular vesicle oxidoreductase complex carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism citrate cycle (tca cycle), and pyruvate metabolism citrate cycle (tca cycle), and lactate dehydrogenase activity pyruvate metabolism, and aspartate biosynthetic process lactate dehydrogenase activity, and malic oxidoreductase l-lactate dehydrogenase, and pyruvate kinase glycolysis / gluconeogenesis cysteine and methionine metabolism pyruvate metabolism propanoate metabolism metabolic pathways hif-1 signaling pathway glucagon signaling pathway central carbon metabolism in cancer the citric acid (tca) cycle and respiratory electron transport metabolism pyruvate metabolism pyruvate metabolism and citric acid (tca) cycle clear cell renal cell carcinoma pathways krebs cycle disorders glycolysis and gluconeogenesis tissues, cell types and enzyme sources animal male reproductive gland reproductive system male reproductive system female reproductive system female reproductive gland gland gonad testis endocrine gland whole body urogenital system internal male genital organ intracellular cytoplasm cytosol cellular anatomical entity protein measurement blood protein measurement serum amyloid a-1 protein measurement nad oxidoreductase phosphoprotein cytoplasm lactate/malate dehydrogenase, nad binding domain lactate/malate dehydrogenase, alpha/beta c-terminal domain lactate/malate dehydrogenase, n-terminal l-lactate/malate dehydrogenase l-lactate dehydrogenase lactate dehydrogenase/glycoside hydrolase, family 4, c-terminal l-lactate dehydrogenase, active site lactate/malate dehydrogenase, c-terminal nad(p)-binding domain superfamily reproduction mapk cascade blood vessel development in utero embryonic development formation of primary germ layer endoderm formation placenta development embryonic placenta development regulation of protein phosphorylation positive regulation of protein phosphorylation vasculature development immune system process immune system development developmental process involved in reproduction regulation of transcription, dna-templated protein phosphorylation phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process chemotaxis response to stress cell communication signal transduction multicellular organism development gastrulation nervous system development central nervous system development brain development endoderm development heart development metabolic process cell population proliferation negative regulation of cell population proliferation epidermis development response to external stimulus anatomical structure morphogenesis embryo development embryo development ending in birth or egg hatching animal organ morphogenesis tissue development regulation of biosynthetic process positive regulation of biosynthetic process positive regulation of metabolic process epidermal cell differentiation regulation of signal transduction positive regulation of signal transduction cellular process glial cell differentiation regulation of gene expression regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process positive regulation of phosphorus metabolic process positive regulation of macromolecule metabolic process positive regulation of gene expression regulation of cell communication positive regulation of cell communication positive regulation of cell development regulation of neuron projection development phosphorylation peptidyl-tyrosine phosphorylation peptidyl-amino acid modification peptidyl-tyrosine modification regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process protein metabolic process cerebellum development hindbrain morphogenesis cerebellum morphogenesis cerebellar cortex development cerebellar cortex morphogenesis cerebellar cortex formation neurogenesis metencephalon development reproductive process regulation of anatomical structure morphogenesis regulation of signaling signaling positive regulation of signaling cell differentiation neuron differentiation keratinocyte differentiation respiratory tube development lung development epithelial cell differentiation thyroid gland development hindbrain development regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process regulation of cell projection organization positive regulation of cell projection organization regulation of protein modification process positive regulation of protein modification process regulation of response to external stimulus activation of protein kinase activity regulation of intracellular transport multicellular organismal process developmental process regulation of stress-activated mapk cascade regulation of localization regulation of organelle organization cellular response to stress positive regulation of kinase activity endocrine system development tube development intracellular signal transduction endodermal cell differentiation protein modification process locomotion gliogenesis regulation of cell population proliferation response to chemical regulation of phosphorylation positive regulation of phosphorylation taxis chordate embryonic development positive regulation of catalytic activity macromolecule metabolic process regulation of mapk cascade positive regulation of mapk cascade macromolecule modification regulation of kinase activity skin development positive regulation of molecular function cellular metabolic process primary metabolic process regulation of cell differentiation positive regulation of cell differentiation regulation of protein kinase activity positive regulation of protein kinase activity positive regulation of transcription, dna-templated positive regulation of nucleobase-containing compound metabolic process positive regulation of phosphate metabolic process animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process hematopoietic or lymphoid organ development thymus development embryonic organ development regulation of response to stimulus positive regulation of response to stimulus embryonic morphogenesis reproductive structure development animal organ formation anatomical structure formation involved in morphogenesis regulation of axon regeneration generation of neurons astrocyte differentiation system development gland development anatomical structure development cellular developmental process cell motility epithelial cell proliferation regulation of neurogenesis positive regulation of neurogenesis regulation of axonogenesis positive regulation of axonogenesis regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process response to stimulus regulation of transport positive regulation of developmental process regulation of cellular component organization positive regulation of cellular component organization regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process regulation of multicellular organismal process positive regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process regulation of rna metabolic process positive regulation of rna metabolic process regulation of transferase activity positive regulation of transferase activity cellular response to stimulus regulation of nervous system development positive regulation of nervous system development bergmann glial cell differentiation regulation of post-transcriptional gene silencing positive regulation of post-transcriptional gene silencing regulation of macromolecule metabolic process regulation of cell development head development face development regulation of cellular localization lung morphogenesis lung epithelium development epithelium development trachea development trachea morphogenesis trachea formation epithelial cell proliferation involved in lung morphogenesis respiratory system development regulation of vesicle-mediated transport placenta blood vessel development labyrinthine layer development regulation of mirna-mediated gene silencing regulation of gene silencing by rna reproductive system development biological regulation regulation of molecular function regulation of stress-activated protein kinase signaling cascade erk1 and erk2 cascade regulation of erk1 and erk2 cascade positive regulation of erk1 and erk2 cascade regulation of neuron projection regeneration regulation of production of small rna involved in gene silencing by rna organic substance metabolic process regulation of protein serine/threonine kinase activity positive regulation of protein serine/threonine kinase activity circulatory system development regulation of primary metabolic process regulation of response to stress regulation of cellular response to stress regulation of golgi inheritance cellular senescence regulation of plasma membrane bounded cell projection organization regulation of post-transcriptional gene silencing by rna positive regulation of post-transcriptional gene silencing by rna organonitrogen compound metabolic process regulation of intracellular signal transduction positive regulation of intracellular signal transduction positive regulation of rna biosynthetic process regulation of response to wounding regulation of endodermal cell differentiation positive regulation of endodermal cell differentiation regulation of golgi organization regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription regulation of cytoplasmic transport regulation of mirna maturation positive regulation of mirna maturation regulation of multicellular organismal development positive regulation of mirna-mediated gene silencing regulation of early endosome to late endosome transport regulation of rna biosynthetic process nucleotide binding catalytic activity protein kinase activity protein serine/threonine kinase activity map kinase kinase activity protein serine/threonine/tyrosine kinase activity protein tyrosine kinase activity map-kinase scaffold activity binding protein binding atp binding protein c-terminus binding enzyme activator activity kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding kinase regulator activity kinase activator activity protein kinase regulator activity enzyme regulator activity protein kinase activator activity adenyl nucleotide binding protein-macromolecule adaptor activity ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding signaling adaptor activity purine ribonucleoside triphosphate binding small molecule binding ion binding anion binding protein serine/threonine kinase activator activity protein n-terminus binding molecular adaptor activity scaffold protein binding organic cyclic compound binding carbohydrate derivative binding molecular function regulator activity protein serine kinase activity catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding intracellular anatomical structure nucleus cytoplasm mitochondrion endosome early endosome late endosome endoplasmic reticulum golgi apparatus microtubule organizing center cytosol cytoskeleton plasma membrane focal adhesion endomembrane system microtubule cytoskeleton membrane cell junction cell-substrate junction cytoplasmic vesicle vesicle organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle anchoring junction cell periphery intracellular vesicle cellular anatomical entity mixed, incl. small gtpase, ras-type, and ras-like guanine nucleotide exchange factor, n-terminal mixed, incl. signalling to erks, and ras gtpase-activating protein mixed, incl. inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and ras gtpase-activating protein mixed, incl. inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and cardiofaciocutaneous syndrome inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and cardiofaciocutaneous syndrome negative feedback regulation of mapk pathway, and ras gtpase cycle mutants egfr tyrosine kinase inhibitor resistance endocrine resistance mapk signaling pathway erbb signaling pathway ras signaling pathway rap1 signaling pathway cgmp-pkg signaling pathway camp signaling pathway chemokine signaling pathway hif-1 signaling pathway foxo signaling pathway sphingolipid signaling pathway phospholipase d signaling pathway oocyte meiosis autophagy - animal mtor signaling pathway pi3k-akt signaling pathway apoptosis cellular senescence vascular smooth muscle contraction vegf signaling pathway apelin signaling pathway osteoclast differentiation focal adhesion gap junction signaling pathways regulating pluripotency of stem cells toll-like receptor signaling pathway natural killer cell mediated cytotoxicity t cell receptor signaling pathway b cell receptor signaling pathway fc epsilon ri signaling pathway fc gamma r-mediated phagocytosis tnf signaling pathway long-term potentiation neurotrophin signaling pathway cholinergic synapse serotonergic synapse long-term depression regulation of actin cytoskeleton insulin signaling pathway gnrh signaling pathway progesterone-mediated oocyte maturation estrogen signaling pathway melanogenesis prolactin signaling pathway thyroid hormone signaling pathway oxytocin signaling pathway relaxin signaling pathway parathyroid hormone synthesis, secretion and action gnrh secretion cushing syndrome growth hormone synthesis, secretion and action alzheimer disease alcoholism salmonella infection yersinia infection hepatitis c hepatitis b human cytomegalovirus infection influenza a human papillomavirus infection human t-cell leukemia virus 1 infection kaposi sarcoma-associated herpesvirus infection human immunodeficiency virus 1 infection pathways in cancer proteoglycans in cancer micrornas in cancer colorectal cancer renal cell carcinoma pancreatic cancer endometrial cancer glioma prostate cancer thyroid cancer melanoma bladder cancer chronic myeloid leukemia acute myeloid leukemia non-small cell lung cancer breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer choline metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer mapk3 (erk1) activation raf-independent mapk1/3 activation developmental biology cytokine signaling in immune system signal transduction disease toll like receptor 4 (tlr4) cascade myd88:mal(tirap) cascade initiated on plasma membrane myd88-independent tlr4 cascade signaling by ntrks toll like receptor 9 (tlr9) cascade toll like receptor 10 (tlr10) cascade toll like receptor 3 (tlr3) cascade toll like receptor 5 (tlr5) cascade toll like receptor tlr1:tlr2 cascade toll like receptor 7/8 (tlr7/8) cascade toll like receptor tlr6:tlr2 cascade innate immune system immune system toll-like receptor cascades prolonged erk activation events frs2-mediated activation toll like receptor 2 (tlr2) cascade signaling by ntrk1 (trka) signalling to erks l1cam interactions axon guidance signal transduction by l1 interleukin-1 family signaling interleukin-17 signaling signaling by interleukins map kinase activation uptake and function of anthrax toxins uptake and actions of bacterial toxins diseases of signal transduction by growth factor receptors and second messengers infectious disease raf activation raf/map kinase cascade map2k and mapk activation negative feedback regulation of mapk pathway negative regulation of mapk pathway mapk family signaling cascades map3k8 (tpl2)-dependent mapk1/3 activation mapk1/mapk3 signaling signaling by moderate kinase activity braf mutants signaling by high-kinase activity braf mutants signaling by ras mutants signaling by braf and raf1 fusions paradoxical activation of raf signaling by kinase inactive braf oncogenic mapk signaling signaling by receptor tyrosine kinases interleukin-1 signaling trif(ticam1)-mediated tlr4 signaling signaling downstream of ras mutants signaling by map2k mutants signaling by raf1 mutants nervous system development traf6 mediated induction of nfkb and map kinases upon tlr7/8 or 9 activation myd88 dependent cascade initiated on endosome myd88 cascade initiated on plasma membrane il-5 signaling pathway osteopontin signaling micrornas in cardiomyocyte hypertrophy integrin-mediated cell adhesion il-1 signaling pathway thyroxine (thyroid hormone) production rankl/rank signaling pathway thyroid stimulating hormone (tsh) signaling pathway leptin signaling pathway prolactin signaling pathway il-7 signaling pathway alzheimers disease and mirna effects endothelin pathways il-9 signaling pathway thymic stromal lymphopoietin (tslp) signaling pathway glioblastoma signaling pathways androgen receptor network in prostate cancer b cell receptor signaling pathway age/rage pathway interleukin-11 signaling pathway corticotropin-releasing hormone signaling pathway oncostatin m signaling pathway brain-derived neurotrophic factor (bdnf) signaling pathway pdgf pathway aryl hydrocarbon receptor pathway common pathways underlying drug addiction interleukin-1 (il-1) structural pathway nanoparticle-mediated activation of receptor signaling cardiac hypertrophic response bladder cancer il-3 signaling pathway kit receptor signaling pathway focal adhesion hepatocyte growth factor receptor signaling il6 signaling pathway tgf-beta signaling pathway bdnf-trkb signaling physico-chemical features and toxicity-associated pathways mapk signaling pathway t-cell antigen receptor (tcr) pathway during staphylococcus aureus infection 4-hydroxytamoxifen, dexamethasone, and retinoic acids regulation of p27 expression vegfa-vegfr2 signaling angiopoietin-like protein 8 regulatory pathway chemokine signaling pathway embryonic stem cell pluripotency pathways focal adhesion: pi3k-akt-mtor-signaling pathway pdgfr-beta pathway mirna regulation of prostate cancer signaling pathways endometrial cancer pi3k-akt signaling pathway met in type 1 papillary renal cell carcinoma chromosomal and microsatellite instability in colorectal cancer  mapk cascade ras signaling epithelial to mesenchymal transition in colorectal cancer non-small cell lung cancer breast cancer pathway pancreatic adenocarcinoma pathway ethanol metabolism production of ros by cyp2e1 egf/egfr signaling pathway envelope proteins and their potential roles in edmd physiopathology fragile x syndrome translation inhibitors in chronically activated pdgfra cells gastrin signaling pathway hepatitis b infection melanoma thyroid hormones production and peripheral downstream signaling effects netrin-unc5b signaling pathway fgfr3 signaling in chondrocyte proliferation and terminal differentiation egfr tyrosine kinase inhibitor resistance insulin signaling kisspeptin/kisspeptin receptor system in the ovary host-pathogen interaction of human coronaviruses - mapk signaling il-2 signaling pathway mapk pathway in congenital thyroid cancer malignant pleural mesothelioma t-cell activation sars-cov-2 regulation of actin cytoskeleton alzheimers disease nrp1-triggered signaling pathways in pancreatic cancer ckap4 signaling pathway map epo receptor signaling erbb signaling pathway t-cell receptor signaling pathway estrogen signaling pathway serotonin htr1 group and fos pathway serotonin receptor 2 and elk-srf/gata4 signaling serotonin receptor 4/6/7 and nr3c signaling toll-like receptor signaling pathway lower respiratory tract disease monogenic disease respiratory system cancer organ system cancer cardiomyopathy autosomal dominant disease autosomal genetic disease cardiofaciocutaneous syndrome bone disease bone remodeling disease rasopathy heart disease cardiovascular system disease lung cancer noonan syndrome with multiple lentigines disease of cellular proliferation respiratory system disease cancer musculoskeletal system disease syndrome langerhans-cell histiocytosis immune system disease histiocytosis noonan syndrome disease melorheostosis osteosclerosis genetic disease connective tissue disease disease of anatomical entity lymphatic system disease lung disease tissues, cell types and enzyme sources animal blood cervical carcinoma cell digestive gland gland hematopoietic system hematopoietic cell leukocyte lymphoid tissue liver lymphocyte t-lymphocyte lymphoid cell endocrine gland whole body viscus immune system intracellular nucleus cytoplasm mitochondrion endosome early endosome late endosome endoplasmic reticulum golgi apparatus cytosol plasma membrane focal adhesion endomembrane system membrane cell junction cell-substrate junction cytoplasmic vesicle vesicle organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle anchoring junction cell periphery intracellular vesicle cellular anatomical entity cognition anthropometric measurement mental process body weights and measures body mass index hematological measurement mean platelet volume sleep measurement mathematical ability platelet measurement response to selective serotonin reuptake inhibitor autoimmune disease biomarker insomnia measurement abnormality of body height cryptorchidism abnormality of male external genitalia abnormal testis morphology abnormality of the kidney abnormality of the genital system abnormality of the urinary system phenotypic abnormality abnormality of the genitourinary system hydronephrosis abnormality of head or neck abnormality of the mouth wide mouth abnormal lip morphology abnormal oral cavity morphology abnormal palate morphology cleft palate submucous cleft hard palate abnormal upper lip morphology oral cleft high palate abnormality of the head hydrocephalus abnormality of skull size macrocephaly abnormality of the face long face coarse facial features epicanthus abnormality of the philtrum abnormality of the forehead full cheeks abnormal midface morphology abnormality of the orbital region hypertelorism long philtrum high forehead abnormality of the outer ear abnormal location of ears posteriorly rotated ears abnormality of the nose low-set, posteriorly rotated ears low-set ears abnormal pinna morphology thickened helices macrotia abnormal nasal bridge morphology abnormal morphology of the nasal alae anteverted nares abnormality of the neck webbed neck short neck abnormality of the eye strabismus abnormal eyelid morphology downslanted palpebral fissures abnormality of eye movement abnormal eyelash morphology abnormality of vision ptosis abnormal eyebrow morphology abnormality of refraction myopia abnormal conjugate eye movement abnormality of the optic nerve abnormality of the ear abnormality of the periorbital region long palpebral fissure nystagmus optic atrophy abnormality of the nervous system abnormal thorax morphology abnormal sternum morphology pectus excavatum abnormal external genitalia abnormality of the skeletal system abnormality of the vertebral column abnormal skull morphology abnormal diaphysis morphology abnormality of the skin hyperpigmentation of the skin cafe-au-lait spot dry skin hyperkeratosis edema palmoplantar hyperkeratosis cutis laxa hyperextensible skin hyperhidrosis palmoplantar keratoderma atypical scarring of skin abnormality of skin pigmentation multiple lentigines lymphedema abnormal palmar dermatoglyphics hemangioma hypermelanotic macule cavernous hemangioma thickened skin abnormal fundus morphology abnormality of the hand abnormality of prenatal development or birth abnormal fingernail morphology intellectual disability seizure hypotonia dysarthria global developmental delay abnormal nervous system electrophysiology abnormal joint morphology arthritis limitation of joint mobility joint stiffness growth abnormality failure to thrive growth delay failure to thrive in infancy abnormality of the integument redundant skin abnormal hair morphology abnormality of the nail premature birth abnormality of the cardiovascular system abnormal heart morphology ventricular septal defect atrial septal defect abnormal myocardium morphology cardiomyopathy hypertrophic cardiomyopathy pulmonic stenosis abnormal heart valve morphology abnormal cardiac septum morphology abnormal cardiac ventricle morphology abnormal foot morphology abnormality of metabolism/homeostasis abnormal scalp morphology abnormal facial shape frontal bossing morphological central nervous system abnormality heat intolerance cerebral atrophy abnormal cerebral morphology abnormal cerebral ventricle morphology cerebral cortical atrophy low posterior hairline neurological speech impairment curly hair fine hair slow-growing hair brittle hair eeg abnormality abnormal cerebral cortex morphology abnormality of the vasculature scoliosis skeletal dysplasia bone pain neoplasm abnormal calvaria morphology hypoplastic facial bones abnormality of limb bone morphology abnormality of the lower limb abnormality of the knee abnormality of the upper limb arthralgia genu valgum abnormal cerebrospinal fluid morphology cubitus valgus abnormal forearm morphology aplasia/hypoplasia involving the central nervous system bowing of the legs abnormality of the calf obsolete abnormality of the ulna abnormality of the musculature short nose skeletal muscle atrophy abnormality of the cervical spine abnormal bone structure abnormality of connective tissue abnormal muscle tone short stature abnormality of body weight decreased body weight abnormal posterior eye segment morphology abnormality of bone mineral density reduced bone mineral density abnormality of temperature regulation biparietal narrowing abnormal cheek morphology arteriovenous fistula abnormal nasal morphology abnormal cardiac atrium morphology depressed nasal bridge abnormal nostril morphology deep palmar crease bowing of the long bones cranial nerve paralysis atrophy/degeneration affecting the central nervous system atrophy/degeneration affecting the cerebrum excessive wrinkled skin irregular hyperpigmentation generalized hyperpigmentation abnormal dermatoglyphics prematurely aged appearance hypohidrosis or hyperhidrosis plantar hyperkeratosis multiple cafe-au-lait spots abnormality of the palpebral fissures ichthyosis abnormally lax or hyperextensible skin sparse hair dystrophic fingernails nail dystrophy feeding difficulties in infancy abnormal axial skeleton morphology abnormality of the hairline abnormality of upper limb joint abnormality of the elbow underdeveloped supraorbital ridges abnormal ventricular septum morphology abnormality of the male genitalia abnormality of the palmar creases abnormal elasticity of skin abnormal zygomatic bone morphology hypoplasia of the zygomatic bone abnormality of the curvature of the vertebral column abnormality of hair texture abnormal hair pattern palmar hyperkeratosis abnormality of the upper urinary tract abnormal external nose morphology abnormal renal pelvis morphology dilatation of the renal pelvis increased bone mineral density abnormality of the gastrointestinal tract abnormal cardiovascular system physiology abnormality of fluid regulation abnormal helix morphology abnormality of skin morphology abnormality of skin adnexa morphology abnormal shape of the frontal region abnormal long bone morphology abnormality of mouth size generalized abnormality of skin localized skin lesion regional abnormality of skin congenital abnormal hair pattern abnormal hair quantity abnormality of hair growth rate epidermal thickening abnormality of higher mental function abdominal symptom abnormality of joint mobility neoplasm by anatomical site abnormal muscle physiology abnormal skeletal muscle morphology abnormal facial skeleton morphology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology abnormal bone ossification feeding difficulties ectopic ossification ectopic ossification in muscle tissue abnormal atrial septum morphology abnormal renal morphology abnormal reproductive system morphology abnormal homeostasis abnormal eye morphology abnormal eye physiology abnormality of brain morphology brain atrophy pain abnormal involuntary eye movements abnormal nervous system physiology abnormal nervous system morphology functional abnormality of the gastrointestinal tract macule neurodevelopmental delay neurodevelopmental abnormality abnormal optic disc morphology abnormal vascular morphology abnormality of the digestive system abnormality of digestive system physiology constitutional symptom abnormality of skin adnexa physiology abnormal neck morphology abnormality of the posterior hairline abnormality of central nervous system electrophysiology abnormality of muscle size abnormal ocular adnexa morphology abnormality of cardiovascular system morphology abnormal heart valve physiology abnormal pulmonary valve physiology abnormal ear morphology abnormal oral morphology abnormal cranial nerve physiology abnormality of the ocular adnexa keratosis pilaris abnormality of the musculoskeletal system abnormal blood vessel morphology aplasia/hypoplasia of facial bones abnormal joint physiology abnormality of limbs abnormality of limb bone abnormal upper limb bone morphology abnormal forearm bone morphology abnormality of hair growth increased head circumference abnormal skin morphology of the palm arteriovenous malformation abnormality of the scalp hair abnormality of lower limb joint abnormality of the supraorbital ridges cognitive impairment abnormal forebrain morphology asymmetric growth lower limb asymmetry upper limb asymmetry premature skin wrinkling scarring large face vascular neoplasm hyperostosis peripheral arteriovenous fistula aplasia/hypoplasia of the eyebrow abnormal palm morphology abnormality of the plantar skin of foot abnormality of globe location slanting of the palpebral fissure abnormal size of the palpebral fissures sparse or absent eyelashes submucous cleft of soft and hard palate abnormal frontal bone morphology acetylation alternative splicing ectodermal dysplasia atp-binding cardiomyopathy cytoskeleton kinase membrane nucleus nucleotide-binding phosphoprotein serine/threonine-protein kinase transferase tyrosine-protein kinase cytoplasm protein kinase domain serine/threonine-protein kinase, active site protein kinase-like domain superfamily protein kinase, atp binding site serine/threonine protein kinases, catalytic domain mapk cascade regulation of protein phosphorylation positive regulation of protein phosphorylation immune system process immune system development regulation of transcription, dna-templated protein phosphorylation phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process cell communication signal transduction multicellular organism development heart development metabolic process cell population proliferation anatomical structure morphogenesis animal organ morphogenesis tissue development regulation of biosynthetic process positive regulation of biosynthetic process positive regulation of metabolic process regulation of signal transduction positive regulation of signal transduction cellular process regulation of gene expression regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process positive regulation of phosphorus metabolic process positive regulation of macromolecule metabolic process positive regulation of gene expression regulation of cell communication positive regulation of cell communication positive regulation of cell development regulation of neuron projection development phosphorylation peptidyl-serine phosphorylation peptidyl-tyrosine phosphorylation peptidyl-amino acid modification peptidyl-serine modification peptidyl-tyrosine modification regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process protein metabolic process regulation of anatomical structure morphogenesis regulation of signaling signaling positive regulation of signaling respiratory tube development lung development thyroid gland development regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process regulation of cell projection organization positive regulation of cell projection organization regulation of protein modification process positive regulation of protein modification process regulation of response to external stimulus activation of protein kinase activity regulation of intracellular transport multicellular organismal process developmental process regulation of stress-activated mapk cascade regulation of localization regulation of organelle organization positive regulation of kinase activity endocrine system development tube development intracellular signal transduction protein modification process peptidyl-serine autophosphorylation regulation of locomotion positive regulation of locomotion regulation of phosphorylation positive regulation of phosphorylation positive regulation of catalytic activity macromolecule metabolic process regulation of mapk cascade positive regulation of mapk cascade macromolecule modification regulation of kinase activity positive regulation of molecular function cellular metabolic process primary metabolic process regulation of cell differentiation positive regulation of cell differentiation regulation of protein kinase activity positive regulation of protein kinase activity positive regulation of transcription, dna-templated positive regulation of nucleobase-containing compound metabolic process positive regulation of phosphate metabolic process protein autophosphorylation animal organ development positive regulation of biological process positive regulation of cellular process hematopoietic or lymphoid organ development thymus development regulation of response to stimulus positive regulation of response to stimulus animal organ formation anatomical structure formation involved in morphogenesis regulation of axon regeneration system development gland development anatomical structure development epithelial cell proliferation regulation of neurogenesis positive regulation of neurogenesis regulation of axonogenesis positive regulation of axonogenesis regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process response to stimulus regulation of transport positive regulation of developmental process regulation of cellular component organization positive regulation of cellular component organization regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process regulation of multicellular organismal process positive regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process regulation of rna metabolic process positive regulation of rna metabolic process regulation of transferase activity positive regulation of transferase activity cellular response to stimulus regulation of nervous system development positive regulation of nervous system development regulation of post-transcriptional gene silencing positive regulation of post-transcriptional gene silencing regulation of macromolecule metabolic process regulation of cell development head development face development regulation of cellular localization lung morphogenesis lung epithelium development epithelium development trachea development trachea morphogenesis trachea formation epithelial cell proliferation involved in lung morphogenesis respiratory system development regulation of vesicle-mediated transport regulation of mirna-mediated gene silencing regulation of gene silencing by rna biological regulation regulation of molecular function regulation of stress-activated protein kinase signaling cascade erk1 and erk2 cascade regulation of neuron projection regeneration regulation of production of small rna involved in gene silencing by rna organic substance metabolic process regulation of protein serine/threonine kinase activity positive regulation of protein serine/threonine kinase activity circulatory system development regulation of primary metabolic process regulation of response to stress regulation of cellular response to stress regulation of golgi inheritance regulation of plasma membrane bounded cell projection organization regulation of post-transcriptional gene silencing by rna positive regulation of post-transcriptional gene silencing by rna organonitrogen compound metabolic process regulation of intracellular signal transduction positive regulation of intracellular signal transduction positive regulation of rna biosynthetic process regulation of response to wounding regulation of golgi organization regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription regulation of cytoplasmic transport regulation of mirna maturation positive regulation of mirna maturation regulation of multicellular organismal development regulation of cell motility positive regulation of cell motility positive regulation of mirna-mediated gene silencing regulation of early endosome to late endosome transport regulation of rna biosynthetic process nucleotide binding catalytic activity protein kinase activity protein serine/threonine kinase activity map kinase kinase activity protein serine/threonine/tyrosine kinase activity protein tyrosine kinase activity map-kinase scaffold activity binding protein binding atp binding enzyme activator activity kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding kinase regulator activity kinase activator activity protein kinase regulator activity protein domain specific binding pdz domain binding enzyme regulator activity protein kinase activator activity adenyl nucleotide binding protein-macromolecule adaptor activity ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding signaling adaptor activity purine ribonucleoside triphosphate binding small molecule binding ion binding anion binding cation binding protein serine/threonine kinase activator activity metal ion binding molecular adaptor activity scaffold protein binding organic cyclic compound binding carbohydrate derivative binding molecular function regulator activity protein serine kinase activity catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding extracellular region intracellular anatomical structure nucleus cytoplasm mitochondrion endosome early endosome late endosome peroxisome peroxisomal membrane endoplasmic reticulum golgi apparatus cytosol cytoskeleton microtubule plasma membrane cell-cell junction focal adhesion cytoplasmic side of plasma membrane endomembrane system microtubule cytoskeleton membrane cell junction cell-substrate junction organelle membrane cytoplasmic vesicle microbody membrane vesicle microbody organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle perinuclear region of cytoplasm anchoring junction cell periphery intracellular vesicle side of membrane cytoplasmic side of membrane bounding membrane of organelle supramolecular complex supramolecular polymer supramolecular fiber polymeric cytoskeletal fiber cellular anatomical entity mixed, incl. small gtpase, ras-type, and ras-like guanine nucleotide exchange factor, n-terminal mixed, incl. signalling to erks, and ras gtpase-activating protein mixed, incl. inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and ras gtpase-activating protein mixed, incl. inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and cardiofaciocutaneous syndrome inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and cardiofaciocutaneous syndrome negative feedback regulation of mapk pathway, and ras gtpase cycle mutants egfr tyrosine kinase inhibitor resistance endocrine resistance mapk signaling pathway erbb signaling pathway ras signaling pathway rap1 signaling pathway cgmp-pkg signaling pathway camp signaling pathway hif-1 signaling pathway foxo signaling pathway sphingolipid signaling pathway phospholipase d signaling pathway autophagy - animal mtor signaling pathway pi3k-akt signaling pathway apoptosis cellular senescence vascular smooth muscle contraction vegf signaling pathway apelin signaling pathway gap junction signaling pathways regulating pluripotency of stem cells toll-like receptor signaling pathway natural killer cell mediated cytotoxicity t cell receptor signaling pathway b cell receptor signaling pathway fc epsilon ri signaling pathway long-term potentiation neurotrophin signaling pathway long-term depression regulation of actin cytoskeleton insulin signaling pathway gnrh signaling pathway estrogen signaling pathway melanogenesis prolactin signaling pathway thyroid hormone signaling pathway oxytocin signaling pathway relaxin signaling pathway gnrh secretion cushing syndrome growth hormone synthesis, secretion and action alzheimer disease salmonella infection yersinia infection hepatitis c hepatitis b human cytomegalovirus infection influenza a human papillomavirus infection human t-cell leukemia virus 1 infection kaposi sarcoma-associated herpesvirus infection human immunodeficiency virus 1 infection pathways in cancer proteoglycans in cancer micrornas in cancer colorectal cancer renal cell carcinoma endometrial cancer glioma prostate cancer thyroid cancer melanoma bladder cancer chronic myeloid leukemia acute myeloid leukemia non-small cell lung cancer breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer choline metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer raf-independent mapk1/3 activation mapk1 (erk2) activation developmental biology signal transduction disease signaling by ntrks prolonged erk activation events frs2-mediated activation signaling by ntrk1 (trka) signalling to erks l1cam interactions axon guidance signal transduction by l1 uptake and function of anthrax toxins uptake and actions of bacterial toxins diseases of signal transduction by growth factor receptors and second messengers infectious disease raf activation raf/map kinase cascade map2k and mapk activation negative feedback regulation of mapk pathway negative regulation of mapk pathway mapk family signaling cascades mapk1/mapk3 signaling signaling by moderate kinase activity braf mutants signaling by high-kinase activity braf mutants signaling by ras mutants signaling by braf and raf1 fusions paradoxical activation of raf signaling by kinase inactive braf oncogenic mapk signaling signaling by receptor tyrosine kinases signaling downstream of ras mutants signaling by map2k mutants signaling by raf1 mutants nervous system development il-5 signaling pathway micrornas in cardiomyocyte hypertrophy integrin-mediated cell adhesion il-1 signaling pathway thyroxine (thyroid hormone) production leptin signaling pathway prolactin signaling pathway il-7 signaling pathway alzheimers disease and mirna effects il-9 signaling pathway thymic stromal lymphopoietin (tslp) signaling pathway glioblastoma signaling pathways androgen receptor network in prostate cancer b cell receptor signaling pathway interleukin-11 signaling pathway oncostatin m signaling pathway brain-derived neurotrophic factor (bdnf) signaling pathway amyotrophic lateral sclerosis (als) common pathways underlying drug addiction interleukin-1 (il-1) structural pathway nanoparticle-mediated activation of receptor signaling cardiac hypertrophic response bladder cancer kit receptor signaling pathway hepatocyte growth factor receptor signaling il6 signaling pathway pathways affected in adenoid cystic carcinoma tgf-beta signaling pathway mapk signaling pathway t-cell antigen receptor (tcr) pathway during staphylococcus aureus infection 4-hydroxytamoxifen, dexamethasone, and retinoic acids regulation of p27 expression vegfa-vegfr2 signaling angiopoietin-like protein 8 regulatory pathway embryonic stem cell pluripotency pathways focal adhesion: pi3k-akt-mtor-signaling pathway mirna regulation of prostate cancer signaling pathways endometrial cancer pi3k-akt signaling pathway met in type 1 papillary renal cell carcinoma mapk cascade ras signaling epithelial to mesenchymal transition in colorectal cancer non-small cell lung cancer breast cancer pathway pancreatic adenocarcinoma pathway ethanol metabolism production of ros by cyp2e1 egf/egfr signaling pathway envelope proteins and their potential roles in edmd physiopathology fragile x syndrome translation inhibitors in chronically activated pdgfra cells hepatitis b infection melanoma netrin-unc5b signaling pathway fgfr3 signaling in chondrocyte proliferation and terminal differentiation egfr tyrosine kinase inhibitor resistance insulin signaling kisspeptin/kisspeptin receptor system in the ovary host-pathogen interaction of human coronaviruses - mapk signaling il-2 signaling pathway mapk pathway in congenital thyroid cancer kallmann syndrome malignant pleural mesothelioma t-cell activation sars-cov-2 regulation of actin cytoskeleton alzheimers disease nrp1-triggered signaling pathways in pancreatic cancer ckap4 signaling pathway map epo receptor signaling erbb signaling pathway t-cell receptor signaling pathway serotonin htr1 group and fos pathway serotonin receptor 2 and elk-srf/gata4 signaling serotonin receptor 4/6/7 and nr3c signaling toll-like receptor signaling pathway monogenic disease costello syndrome cardiomyopathy autosomal dominant disease autosomal genetic disease cardiofaciocutaneous syndrome rasopathy heart disease cardiovascular system disease syndrome disease genetic disease disease of anatomical entity tissues, cell types and enzyme sources animal male reproductive gland reproductive system male reproductive system female reproductive system blood blood plasma blood platelet female reproductive gland digestive gland gland hematopoietic system blood cancer cell colonic cancer cell integument lymphocytic leukemia cell liver muscle skin leukemia cell muscular system endocrine gland whole body viscus gastrointestinal cancer cell urogenital system extracellular region intracellular nucleus cytoplasm mitochondrion endosome early endosome late endosome peroxisome peroxisomal membrane endoplasmic reticulum golgi apparatus cytosol cytoskeleton microtubule plasma membrane cell-cell junction focal adhesion cytoplasmic side of plasma membrane endomembrane system microtubule cytoskeleton membrane cell junction cell-substrate junction organelle membrane cytoplasmic vesicle microbody membrane vesicle microbody organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle perinuclear region of cytoplasm anchoring junction cell periphery intracellular vesicle side of membrane cytoplasmic side of membrane bounding membrane of organelle supramolecular complex supramolecular polymer supramolecular fiber polymeric cytoskeletal fiber cellular anatomical entity skin pigmentation freckles anthropometric measurement leukocyte count body weights and measures body height body mass index waist circumference hematological measurement complete blood cell count lymphocyte count infectious disease biomarker bmi-adjusted waist circumference tonsillectomy risk measurement abnormality of body height cryptorchidism abnormality of male external genitalia abnormal testis morphology abnormality of the kidney abnormality of the genital system abnormality of the urinary system phenotypic abnormality abnormality of the genitourinary system hydronephrosis abnormality of head or neck abnormality of the mouth abnormal lip morphology abnormal oral cavity morphology abnormal palate morphology cleft palate submucous cleft hard palate abnormal upper lip morphology oral cleft high palate abnormality of the head hydrocephalus abnormality of skull size macrocephaly abnormality of the face malar flattening small face narrow face long face coarse facial features epicanthus abnormality of the philtrum abnormality of the forehead full cheeks abnormal midface morphology abnormality of the orbital region hypertelorism prominent supraorbital ridges narrow forehead long philtrum high forehead abnormality of the outer ear abnormal location of ears posteriorly rotated ears abnormality of the nose low-set, posteriorly rotated ears low-set ears abnormal pinna morphology thickened helices macrotia abnormal nasal bridge morphology abnormal morphology of the nasal alae anteverted nares abnormality of the neck webbed neck short neck abnormality of the eye strabismus abnormal eyelid morphology downslanted palpebral fissures abnormality of eye movement abnormal eyelash morphology abnormality of vision telecanthus ptosis abnormal lens morphology cataract developmental cataract abnormality iris morphology abnormal eyebrow morphology abnormality of refraction myopia abnormal conjugate eye movement abnormal uvea morphology abnormality of the optic nerve abnormality of the ear abnormality of the periorbital region optic nerve hypoplasia long palpebral fissure nystagmus optic atrophy abnormality of the nervous system delayed speech and language development abnormal peripheral nervous system morphology abnormal thorax morphology abnormal sternum morphology pectus excavatum pectus carinatum abnormal external genitalia pectus excavatum of inferior sternum superior pectus carinatum abnormality of the skeletal system abnormality of the vertebral column abnormal skull morphology abnormal diaphysis morphology abnormality of the skin hyperpigmentation of the skin cafe-au-lait spot dry skin hyperkeratosis edema palmoplantar hyperkeratosis cutis laxa hyperextensible skin hyperhidrosis palmoplantar keratoderma axillary freckling abnormality of skin pigmentation multiple lentigines lymphedema abnormal palmar dermatoglyphics hemangioma hypermelanotic macule cavernous hemangioma neurofibromas thickened skin abnormal fundus morphology abnormality of the hand abnormality of prenatal development or birth abnormal fingernail morphology intellectual disability hypotonia dysarthria global developmental delay abnormal corpus callosum morphology abnormal nervous system electrophysiology abnormal cerebellum morphology cerebellar hypoplasia muscle weakness specific learning disability abnormal joint morphology freckling growth abnormality failure to thrive growth delay failure to thrive in infancy abnormality of the integument redundant skin abnormal hair morphology abnormality of the nail premature birth abnormality of the cardiovascular system abnormal heart morphology atrial septal defect abnormal myocardium morphology cardiomyopathy hypertrophic cardiomyopathy pulmonic stenosis abnormal aortic valve morphology abnormal heart valve morphology abnormal cardiac septum morphology secundum atrial septal defect abnormal cardiac ventricle morphology abnormal foot morphology abnormality of blood and blood-forming tissues abnormal bleeding abnormality of metabolism/homeostasis abnormal scalp morphology abnormal facial shape frontal bossing morphological central nervous system abnormality dysphagia heat intolerance cerebral atrophy abnormal cerebral morphology hypoplasia of the corpus callosum abnormal cerebral ventricle morphology cerebral cortical atrophy low posterior hairline neurological speech impairment fine hair slow-growing hair absent eyebrow absent hair brittle hair eeg abnormality language impairment abnormal cerebral white matter morphology abnormal cerebral cortex morphology abnormality of the vasculature scoliosis neoplasm abnormal calvaria morphology hypoplastic facial bones abnormality of the immune system abnormality of limb bone morphology abnormality of the lower limb abnormality of the knee abnormality of the upper limb genu valgum abnormal cerebrospinal fluid morphology cubitus valgus abnormal forearm morphology aplasia/hypoplasia involving the central nervous system bowing of the legs abnormality of the calf obsolete abnormality of the ulna neuroblastoma prolonged bleeding time abnormality of the musculature short nose abnormality of the cervical spine abnormal muscle tone short stature abnormality of body weight decreased body weight abnormal anterior eye segment morphology abnormal posterior eye segment morphology abnormality of temperature regulation neoplasm of the nervous system neuroblastic tumor biparietal narrowing abnormal cheek morphology abnormal nasal morphology abnormal cardiac atrium morphology prominent nasolabial fold depressed nasal bridge abnormal nostril morphology abnormality of the nasolabial region deep palmar crease bowing of the long bones aplasia/hypoplasia of the cerebellum aplasia/hypoplasia of the cerebrum atrophy/degeneration affecting the central nervous system atrophy/degeneration affecting the cerebrum aplasia/hypoplasia of the corpus callosum excessive wrinkled skin irregular hyperpigmentation generalized hyperpigmentation abnormal dermatoglyphics prematurely aged appearance hypohidrosis or hyperhidrosis plantar hyperkeratosis multiple cafe-au-lait spots ocular anterior segment dysgenesis abnormality of the palpebral fissures aplasia/hypoplasia affecting the eye aplasia/hypoplasia affecting the fundus aplasia/hypoplasia of the optic nerve ichthyosis abnormally lax or hyperextensible skin neoplasm of the skin sparse hair dystrophic fingernails nail dystrophy feeding difficulties in infancy abdominal wall muscle weakness abnormal axial skeleton morphology abnormality of the hairline plexiform neurofibroma glioma optic nerve glioma lisch nodules abnormality of upper limb joint abnormality of the elbow underdeveloped supraorbital ridges abnormal ventricular septum morphology abnormality of the male genitalia abnormality of the palmar creases hamartoma hamartoma of the eye fibroma abnormal elasticity of skin abnormal zygomatic bone morphology hypoplasia of the zygomatic bone abnormality of the curvature of the vertebral column abnormality of hair texture abnormal hair pattern palmar hyperkeratosis abnormality of the upper urinary tract abnormal external nose morphology abnormal renal pelvis morphology dilatation of the renal pelvis abnormal cerebral subcortex morphology abnormality of the gastrointestinal tract abnormal cardiovascular system physiology abnormality of fluid regulation abnormal helix morphology abnormality of skin morphology abnormality of skin adnexa morphology abnormal shape of the frontal region abnormal hindbrain morphology abnormal metencephalon morphology abnormal long bone morphology generalized abnormality of skin localized skin lesion regional abnormality of skin congenital abnormal hair pattern abnormal hair quantity abnormality of hair growth rate epidermal thickening abnormality of higher mental function abdominal symptom neoplasm by histology neoplasm by anatomical site midface retrusion abnormal muscle physiology abnormal facial skeleton morphology abnormal skeletal morphology abnormal appendicular skeleton morphology feeding difficulties abnormal atrial septum morphology abnormal renal morphology abnormal reproductive system morphology fibrous tissue neoplasm abnormal homeostasis abnormal eye morphology abnormal eye physiology abnormality of brain morphology brain atrophy thick vermilion border abnormal involuntary eye movements abnormal nervous system physiology abnormal nervous system morphology functional abnormality of the gastrointestinal tract macule neurodevelopmental delay neurodevelopmental abnormality abnormal optic disc morphology abnormality of the digestive system abnormality of digestive system physiology abnormal esophagus physiology abnormality of skin adnexa physiology abnormal neck morphology abnormal lateral ventricle morphology inguinal freckling nervous tissue neoplasm neuroectodermal neoplasm neuroepithelial neoplasm primitive neuroectodermal tumor peripheral primitive neuroectodermal neoplasm abnormality of the posterior hairline abnormality of central nervous system electrophysiology soft tissue sarcoma abnormal ocular adnexa morphology hamartoma of the orbital region abnormality of cardiovascular system morphology abnormal heart valve physiology abnormal pulmonary valve physiology abnormal ear morphology abnormal oral morphology abnormality of the ocular adnexa abnormality of the musculoskeletal system thin corpus callosum aplasia/hypoplasia of facial bones abnormality of limbs abnormality of limb bone abnormal upper limb bone morphology abnormal forearm bone morphology abnormality of hair growth increased head circumference abnormal skin morphology of the palm neoplasm of the central nervous system neoplasm of the peripheral nervous system neoplasm of the eye abnormality of the scalp hair sarcoma abnormality of lower limb joint abnormality of the supraorbital ridges cognitive impairment abnormal forebrain morphology premature skin wrinkling abnormal glial cell morphology large face vascular neoplasm abnormality of the lymphatic system malignant neoplasm of the central nervous system aplasia/hypoplasia of the eyebrow abnormal palm morphology abnormality of the plantar skin of foot abnormality of globe location slanting of the palpebral fissure abnormal size of the palpebral fissures sparse or absent eyelashes submucous cleft of soft and hard palate abnormal frontal bone morphology acetylation ectodermal dysplasia atp-binding cardiomyopathy kinase magnesium membrane metal-binding nucleotide-binding phosphoprotein serine/threonine-protein kinase transferase tyrosine-protein kinase cytoplasm protein kinase domain serine/threonine-protein kinase, active site protein kinase-like domain superfamily protein kinase, atp binding site serine/threonine protein kinases, catalytic domain reproduction mapk cascade response to reactive oxygen species blood vessel development in utero embryonic development placenta development embryonic placenta development regulation of protein phosphorylation positive regulation of protein phosphorylation vasculature development response to molecule of bacterial origin activation of immune response immune system process immune response-activating cell surface receptor signaling pathway immune system development regulation of immune system process positive regulation of immune system process regulation of leukocyte migration positive regulation of leukocyte migration regulation of leukocyte chemotaxis positive regulation of leukocyte chemotaxis immune response-activating signal transduction immune response-regulating signaling pathway immune response-regulating cell surface receptor signaling pathway developmental process involved in reproduction system process nucleobase-containing compound metabolic process pyrimidine nucleobase metabolic process protein phosphorylation cellular aromatic compound metabolic process phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process transport cellular ion homeostasis regulation of ph endocytosis apoptotic process chemotaxis response to stress cellular response to dna damage stimulus response to oxidative stress cell cycle cell communication signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway cell-cell signaling chemical synaptic transmission multicellular organism development nervous system development central nervous system development sensory organ development heart development behavior learning or memory metabolic process cell death cell population proliferation positive regulation of cell population proliferation nucleobase metabolic process cellular response to starvation response to external stimulus response to biotic stimulus response to bacterium anatomical structure morphogenesis response to endogenous stimulus embryo development embryo development ending in birth or egg hatching animal organ morphogenesis tissue development regulation of biosynthetic process positive regulation of biosynthetic process positive regulation of metabolic process regulation of signal transduction cellular process response to extracellular stimulus glial cell differentiation response to organic substance response to inorganic substance response to metal ion response to organonitrogen compound regulation of gene expression regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process positive regulation of phosphorus metabolic process positive regulation of macromolecule metabolic process positive regulation of gene expression positive regulation of organelle organization regulation of cell communication positive regulation of cell communication regulation of macrophage chemotaxis positive regulation of macrophage chemotaxis regulation of peptidyl-threonine phosphorylation positive regulation of peptidyl-threonine phosphorylation programmed cell death neural crest cell development neural crest cell differentiation response to organic cyclic compound vesicle-mediated transport phosphorylation peptidyl-serine phosphorylation peptidyl-threonine phosphorylation peptidyl-amino acid modification peptidyl-serine modification peptidyl-threonine modification regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process protein metabolic process cellular homeostasis cytosine metabolic process neurogenesis reproductive process regulation of signaling signaling positive regulation of signaling cellular cation homeostasis cellular monovalent inorganic cation homeostasis cell differentiation regulation of ossification respiratory tube development lung development regulation of cell migration positive regulation of cell migration regulation of cellular ph thyroid gland development mammary gland development stress-activated protein kinase signaling cascade regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process regulation of protein modification process positive regulation of protein modification process regulation of protein stability lipopolysaccharide-mediated signaling pathway response to nutrient levels cellular response to extracellular stimulus cellular response to nutrient levels regulation of response to external stimulus positive regulation of response to external stimulus regulation of telomere maintenance positive regulation of telomere maintenance regulation of telomere maintenance via telomerase positive regulation of telomere maintenance via telomerase regulation of intracellular transport response to lipopolysaccharide multicellular organismal process developmental process regulation of stress-activated mapk cascade regulation of localization regulation of organelle organization regulation of chromosome organization cellular response to stress mammary gland epithelial cell proliferation response to lipid response to cytokine cellular response to amino acid starvation cellular response to oxidative stress response to tumor necrosis factor cellular response to reactive oxygen species cellular nitrogen compound metabolic process cardiocyte differentiation response to nicotine endocrine system development tube development intracellular signal transduction protein modification process erbb signaling pathway locomotion regulation of locomotion positive regulation of locomotion gliogenesis regulation of cell population proliferation response to chemical regulation of phosphorylation positive regulation of phosphorylation taxis ear morphogenesis outer ear morphogenesis homeostatic process response to starvation chordate embryonic development positive regulation of catalytic activity macromolecule metabolic process response to external biotic stimulus response to exogenous dsrna response to dsrna regulation of mapk cascade macromolecule modification ear development positive regulation of molecular function cellular metabolic process primary metabolic process small molecule metabolic process biological process involved in interspecies interaction between organisms regulation of cell differentiation negative regulation of cell differentiation positive regulation of nucleobase-containing compound metabolic process positive regulation of phosphate metabolic process heterocycle metabolic process response to cadmium ion regulation of synaptic plasticity cell development animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process hematopoietic or lymphoid organ development thymus development embryonic organ morphogenesis embryonic organ development regulation of response to stimulus positive regulation of response to stimulus embryonic morphogenesis reproductive structure development animal organ formation anatomical structure formation involved in morphogenesis astrocyte differentiation system development gland development mesenchymal cell differentiation anatomical structure development stem cell differentiation stem cell development cellular developmental process chemical homeostasis epithelial cell proliferation regulation of immune response positive regulation of immune response regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process ion homeostasis modulation of chemical synaptic transmission positive regulation of synaptic transmission antigen receptor-mediated signaling pathway t cell receptor signaling pathway b cell receptor signaling pathway nervous system process cognition response to stimulus regulation of chemotaxis positive regulation of chemotaxis regulation of transport regulation of dna metabolic process positive regulation of dna metabolic process negative regulation of developmental process regulation of cellular component organization positive regulation of cellular component organization regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process localization establishment of localization regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process regulation of transferase activity positive regulation of transferase activity stress-activated mapk cascade regulation of cytoskeleton organization response to other organism cellular response to stimulus regulation of telomerase activity positive regulation of telomerase activity monovalent inorganic cation homeostasis cation homeostasis cellular chemical homeostasis nucleobase-containing small molecule metabolic process bergmann glial cell differentiation regulation of macromolecule metabolic process long-term synaptic potentiation head development face development regulation of cellular localization lung morphogenesis epithelium development trachea development trachea morphogenesis trachea formation mesenchyme development respiratory system development regulation of vesicle-mediated transport placenta blood vessel development labyrinthine layer development labyrinthine layer blood vessel development mammary gland epithelium development cardiac neural crest cell differentiation involved in heart development cardiac neural crest cell development involved in heart development reproductive system development cellular response to chemical stress biological regulation regulation of biological quality regulation of molecular function regulation of stress-activated protein kinase signaling cascade erk1 and erk2 cascade regulation of leukocyte proliferation positive regulation of leukocyte proliferation response to growth factor response to epidermal growth factor cellular response to chemical stimulus cellular response to biotic stimulus cellular response to molecule of bacterial origin cellular response to lipopolysaccharide cellular response to inorganic substance cellular response to metal ion cellular response to cadmium ion cellular response to organic substance cellular response to cytokine stimulus cellular response to tumor necrosis factor cellular response to lipid cellular response to organic cyclic compound cellular response to organonitrogen compound cellular response to endogenous stimulus cellular response to external stimulus regulation of granulocyte chemotaxis regulation of mononuclear cell migration organic substance metabolic process response to monoamine cellular response to monoamine stimulus response to catecholamine cellular response to catecholamine stimulus circulatory system development pyrimidine-containing compound metabolic process caveolin-mediated endocytosis regulation of primary metabolic process regulation of response to stress regulation of cellular response to stress regulation of golgi inheritance sensory organ morphogenesis inorganic ion homeostasis anterograde trans-synaptic signaling regulation of trans-synaptic signaling synaptic signaling trans-synaptic signaling regulation of macrophage proliferation positive regulation of macrophage proliferation organic cyclic compound metabolic process organonitrogen compound metabolic process response to nitrogen compound cellular response to nitrogen compound response to oxygen-containing compound cellular response to oxygen-containing compound regulation of intracellular signal transduction response to dopamine cellular response to dopamine regulation of golgi organization regulation of cytoplasmic transport regulation of telomere capping positive regulation of telomere capping regulation of telomere maintenance via telomere lengthening positive regulation of telomere maintenance via telomere lengthening regulation of macrophage migration positive regulation of macrophage migration response to amino acid starvation regulation of cell motility positive regulation of cell motility regulation of dna biosynthetic process positive regulation of dna biosynthetic process regulation of early endosome to late endosome transport positive regulation of chromosome organization nucleotide binding phosphotyrosine residue binding nucleic acid binding dna binding catalytic activity protein kinase activity protein serine/threonine kinase activity map kinase activity map kinase kinase activity protein serine/threonine/tyrosine kinase activity binding protein binding atp binding rna polymerase ii ctd heptapeptide repeat kinase activity kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding enzyme binding phosphatase binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding identical protein binding ion binding anion binding protein phosphorylated amino acid binding phosphoprotein binding organic cyclic compound binding carbohydrate derivative binding protein serine kinase activity catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding lytic vacuole extracellular region intracellular anatomical structure nucleus nucleoplasm cytoplasm mitochondrion lysosome primary lysosome endosome early endosome late endosome vacuole vacuolar lumen endoplasmic reticulum endoplasmic reticulum lumen golgi apparatus microtubule organizing center spindle cytosol cytoskeleton plasma membrane caveola focal adhesion endomembrane system microtubule cytoskeleton membrane cell junction cell-substrate junction secretory granule pseudopodium cytoplasmic vesicle membrane-enclosed lumen nuclear lumen vesicle vesicle lumen secretory granule lumen azurophil granule lumen azurophil granule cell projection organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen plasma membrane raft membrane raft synapse cytoplasmic vesicle lumen intracellular organelle lumen anchoring junction cell periphery mitotic spindle intracellular vesicle plasma membrane region membrane microdomain secretory vesicle ficolin-1-rich granule cellular anatomical entity plasma membrane bounded cell projection ficolin-1-rich granule lumen mixed, incl. small gtpase, ras-type, and ras-like guanine nucleotide exchange factor, n-terminal mixed, incl. signalling to erks, and ras gtpase-activating protein mixed, incl. inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and ras gtpase-activating protein mixed, incl. inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and cardiofaciocutaneous syndrome inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and cardiofaciocutaneous syndrome negative feedback regulation of mapk pathway, and ras gtpase cycle mutants egfr tyrosine kinase inhibitor resistance endocrine resistance platinum drug resistance mapk signaling pathway erbb signaling pathway ras signaling pathway rap1 signaling pathway cgmp-pkg signaling pathway camp signaling pathway chemokine signaling pathway hif-1 signaling pathway foxo signaling pathway sphingolipid signaling pathway phospholipase d signaling pathway oocyte meiosis autophagy - animal mtor signaling pathway pi3k-akt signaling pathway apoptosis cellular senescence adrenergic signaling in cardiomyocytes vascular smooth muscle contraction tgf-beta signaling pathway axon guidance vegf signaling pathway apelin signaling pathway osteoclast differentiation focal adhesion adherens junction gap junction signaling pathways regulating pluripotency of stem cells platelet activation toll-like receptor signaling pathway nod-like receptor signaling pathway c-type lectin receptor signaling pathway natural killer cell mediated cytotoxicity il-17 signaling pathway th1 and th2 cell differentiation th17 cell differentiation t cell receptor signaling pathway b cell receptor signaling pathway fc epsilon ri signaling pathway fc gamma r-mediated phagocytosis tnf signaling pathway circadian entrainment long-term potentiation neurotrophin signaling pathway retrograde endocannabinoid signaling glutamatergic synapse cholinergic synapse serotonergic synapse long-term depression regulation of actin cytoskeleton insulin signaling pathway gnrh signaling pathway progesterone-mediated oocyte maturation estrogen signaling pathway melanogenesis prolactin signaling pathway thyroid hormone signaling pathway oxytocin signaling pathway relaxin signaling pathway parathyroid hormone synthesis, secretion and action gnrh secretion type ii diabetes mellitus age-rage signaling pathway in diabetic complications cushing syndrome growth hormone synthesis, secretion and action aldosterone-regulated sodium reabsorption alzheimer disease prion disease alcoholism pathogenic escherichia coli infection shigellosis salmonella infection pertussis yersinia infection leishmaniasis chagas disease toxoplasmosis tuberculosis hepatitis c hepatitis b human cytomegalovirus infection influenza a human papillomavirus infection human t-cell leukemia virus 1 infection kaposi sarcoma-associated herpesvirus infection human immunodeficiency virus 1 infection pathways in cancer viral carcinogenesis proteoglycans in cancer micrornas in cancer colorectal cancer renal cell carcinoma pancreatic cancer endometrial cancer glioma prostate cancer thyroid cancer melanoma bladder cancer chronic myeloid leukemia acute myeloid leukemia non-small cell lung cancer breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer choline metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer apoptosis hemostasis intrinsic pathway for apoptosis formation of apoptosome cytochrome c-mediated apoptotic response apoptotic factor-mediated response opioid signalling phospho-pla2 pathway ca-dependent events g-protein mediated events plc beta mediated events neurotransmitter receptors and postsynaptic signal transmission transmission across chemical synapses neuronal system raf-independent mapk1/3 activation mapk1 (erk2) activation signaling by nodal pip3 activates akt signaling developmental biology cytokine signaling in immune system spry regulation of fgf signaling signaling by activin signal transduction golgi cisternae pericentriolar stack reorganization cell cycle disease toll like receptor 4 (tlr4) cascade myd88:mal(tirap) cascade initiated on plasma membrane myd88-independent tlr4 cascade signaling by ntrks toll like receptor 9 (tlr9) cascade toll like receptor 10 (tlr10) cascade toll like receptor 3 (tlr3) cascade toll like receptor 5 (tlr5) cascade toll like receptor tlr1:tlr2 cascade toll like receptor 7/8 (tlr7/8) cascade toll like receptor tlr6:tlr2 cascade innate immune system immune system toll-like receptor cascades prolonged erk activation events signaling by tgf-beta receptor complex frs2-mediated activation toll like receptor 2 (tlr2) cascade signaling by ntrk1 (trka) signalling to erks signaling by fgfr signaling by rho gtpases rho gtpase effectors nuclear events (kinase and transcription factor activation) erk/mapk targets negative regulation of the pi3k/akt network erks are inactivated fcgamma receptor (fcgr) dependent phagocytosis regulation of actin dynamics for phagocytic cup formation generic transcription pathway transcriptional activity of smad2/smad3:smad4 heterotrimer downregulation of smad2/3:smad4 transcriptional activity smad2/smad3:smad4 heterotrimer regulates transcription cellular responses to stress fc epsilon receptor (fceri) signaling oxidative stress induced senescence senescence-associated secretory phenotype (sasp) cellular senescence oncogene induced senescence fceri mediated mapk activation regulation of hsf1-mediated heat shock response cellular response to heat stress signaling by gpcr l1cam interactions ncam signaling for neurite out-growth gpcr downstream signalling g alpha (q) signalling events g alpha (i) signalling events axon guidance recycling pathway of l1 post nmda receptor activation events creb1 phosphorylation through nmda receptor-mediated activation of ras signaling activation of nmda receptors and postsynaptic events rsk activation signal transduction by l1 interleukin-17 signaling signaling by interleukins mapk targets/ nuclear events mediated by map kinases map kinase activation activation of the ap-1 family of transcription factors thrombin signalling through proteinase activated receptors (pars) programmed cell death negative regulation of fgfr1 signaling negative regulation of fgfr2 signaling negative regulation of fgfr3 signaling negative regulation of fgfr4 signaling signaling by fgfr1 signaling by fgfr2 signaling by fgfr3 signaling by fgfr4 diseases of signal transduction by growth factor receptors and second messengers infectious disease rho gtpases activate wasps and waves rho gtpases activate nadph oxidases raf/map kinase cascade map2k and mapk activation negative feedback regulation of mapk pathway negative regulation of mapk pathway mapk family signaling cascades mapk1/mapk3 signaling neutrophil degranulation signaling by moderate kinase activity braf mutants signaling by high-kinase activity braf mutants signaling by ras mutants signaling by braf and raf1 fusions paradoxical activation of raf signaling by kinase inactive braf oncogenic mapk signaling pten regulation pi5p, pp2a and ier3 regulate pi3k/akt signaling mitotic prophase m phase cell cycle, mitotic rna polymerase ii transcription gene expression (transcription) signal attenuation insulin receptor signalling cascade signaling by insulin receptor platelet activation, signaling and aggregation advanced glycosylation endproduct receptor signaling gastrin-creb signalling pathway via pkc and mapk transcriptional regulation by runx2 esr-mediated signaling runx2 regulates osteoblast differentiation runx2 regulates bone development regulation of pten gene transcription cellular responses to stimuli intracellular signaling by second messengers signaling by nuclear receptors signaling by receptor tyrosine kinases signaling by tgfb family members extra-nuclear estrogen signaling trif(ticam1)-mediated tlr4 signaling regulation of the apoptosome activity estrogen-stimulated signaling through prkcz estrogen-dependent nuclear events downstream of esr-membrane signaling transcriptional regulation by npas4 suppression of apoptosis infection with mycobacterium tuberculosis response of mtb to phagocytosis signaling downstream of ras mutants signaling by map2k mutants signaling by mapk mutants signaling by raf1 mutants leishmania infection parasite infection leishmania phagocytosis fcgr3a-mediated phagocytosis nervous system development signaling by alk in cancer signaling by rho gtpases, miro gtpases and rhobtb3 signaling by alk fusions and activated point mutants nuclear events stimulated by alk signaling in cancer traf6 mediated induction of nfkb and map kinases upon tlr7/8 or 9 activation myd88 dependent cascade initiated on endosome myd88 cascade initiated on plasma membrane npas4 regulates expression of target genes growth hormone receptor signaling il-5 signaling pathway osteopontin signaling physiological and pathological hypertrophy of the heart angiogenesis micrornas in cardiomyocyte hypertrophy type ii diabetes mellitus heart development integrin-mediated cell adhesion il-1 signaling pathway thyroxine (thyroid hormone) production rankl/rank signaling pathway thyroid stimulating hormone (tsh) signaling pathway leptin signaling pathway follicle stimulating hormone (fsh) signaling pathway tnf-related weak inducer of apoptosis (tweak) signaling pathway prolactin signaling pathway il-7 signaling pathway alzheimers disease and mirna effects il-17 signaling pathway endothelin pathways il-9 signaling pathway thymic stromal lymphopoietin (tslp) signaling pathway glioblastoma signaling pathways androgen receptor network in prostate cancer b cell receptor signaling pathway tnf-alpha signaling pathway age/rage pathway interleukin-11 signaling pathway corticotropin-releasing hormone signaling pathway oncostatin m signaling pathway brain-derived neurotrophic factor (bdnf) signaling pathway spinal cord injury alpha 6 beta 4 signaling pathway pdgf pathway aryl hydrocarbon receptor pathway s1p receptor signal transduction ebstein-barr virus lmp1 signaling common pathways underlying drug addiction interleukin-1 (il-1) structural pathway nanoparticle-mediated activation of receptor signaling cardiac hypertrophic response bladder cancer il-3 signaling pathway apoptosis-related network due to altered notch3 in ovarian cancer tca cycle nutrient use and invasiveness of ovarian cancer kit receptor signaling pathway focal adhesion hepatocyte growth factor receptor signaling mfap5-mediated ovarian cancer cell motility and invasiveness rac1/pak1/p38/mmp2 pathway wnt signaling pathway il6 signaling pathway tgf-beta signaling pathway hypothesized pathways in pathogenesis of cardiovascular disease bdnf-trkb signaling physico-chemical features and toxicity-associated pathways mapk signaling pathway mapk and nfkb signaling pathways inhibited by yersinia yopj erk pathway in huntingtons disease toll-like receptor signaling related to myd88 tgf-beta signaling in thyroid cells for epithelial-mesenchymal transition cannabinoid receptor signaling 4-hydroxytamoxifen, dexamethasone, and retinoic acids regulation of p27 expression vegfa-vegfr2 signaling angiopoietin-like protein 8 regulatory pathway chemokine signaling pathway embryonic stem cell pluripotency pathways focal adhesion: pi3k-akt-mtor-signaling pathway il-4 signaling pathway mirna regulation of prostate cancer signaling pathways prion disease pathway endometrial cancer pi3k-akt signaling pathway met in type 1 papillary renal cell carcinoma chromosomal and microsatellite instability in colorectal cancer  ebola virus infection in host mapk cascade ras signaling epithelial to mesenchymal transition in colorectal cancer non-small cell lung cancer breast cancer pathway pancreatic adenocarcinoma pathway acute viral myocarditis inhibition of exosome biogenesis and secretion by manumycin a in crpc cells neovascularisation processes non-genomic actions of 1,25 dihydroxyvitamin d3 egf/egfr signaling pathway bile acids synthesis and enterohepatic circulation  ltf danger signal response pathway resistin as a regulator of inflammation relationship between inflammation, cox-2 and egfr envelope proteins and their potential roles in edmd physiopathology regulatory circuits of the stat3 signaling pathway synaptic signaling pathways associated with autism spectrum disorder fragile x syndrome fbxl10 enhancement of map/erk signaling in diffuse large b-cell lymphoma mfap5 effect on permeability and motility of endothelial cells via cytoskeleton rearrangement translation inhibitors in chronically activated pdgfra cells gastrin signaling pathway hepatitis b infection melanoma thyroid hormones production and peripheral downstream signaling effects netrin-unc5b signaling pathway il-18 signaling pathway fgfr3 signaling in chondrocyte proliferation and terminal differentiation osteoblast differentiation and related diseases egfr tyrosine kinase inhibitor resistance insulin signaling regucalcin in proximal tubule epithelial kidney cells kisspeptin/kisspeptin receptor system in the ovary map3k1 role in promoting and blocking gonadal determination camkk2 pathway disruption of postsynaptic signaling by cnv host-pathogen interaction of human coronaviruses - mapk signaling il-2 signaling pathway ras and bradykinin pathways in covid-19 angiotensin ii receptor type 1 pathway kallmann syndrome neuroinflammation and glutamatergic signaling malignant pleural mesothelioma t-cell activation sars-cov-2 regulation of actin cytoskeleton sphingolipid metabolism in senescence alzheimers disease th17 cell differentiation pathway nrp1-triggered signaling pathways in pancreatic cancer 2q11.2 copy number variation syndrome 2q13 copy number variation syndrome hippocampal synaptogenesis and neurogenesis genetic causes of porto-sinusoidal vascular disease female steroid hormones in cardiomyocyte energy metabolism ckap4 signaling pathway map epo receptor signaling erbb signaling pathway t-cell receptor signaling pathway dna damage response (only atm dependent) estrogen signaling pathway vitamin a and carotenoid metabolism serotonin htr1 group and fos pathway serotonin receptor 2 and elk-srf/gata4 signaling serotonin receptor 4/6/7 and nr3c signaling toll-like receptor signaling pathway tissues, cell types and enzyme sources animal reproductive system female reproductive system blood blood plasma blood platelet brain cervical carcinoma cell respiratory system central nervous system head digestive gland erythroleukemia cell gland hematopoietic system blood cancer cell bone marrow cancer cell lymphocytic leukemia cell liver lung leukemia cell nervous system endocrine gland whole body viscus chronic lymphocytic leukemia cell urogenital system lytic vacuole extracellular region intracellular nucleus nucleoplasm cytoplasm mitochondrion lysosome primary lysosome endosome early endosome late endosome vacuole vacuolar lumen endoplasmic reticulum endoplasmic reticulum lumen golgi apparatus spindle cytosol cytoskeleton plasma membrane caveola focal adhesion endomembrane system microtubule cytoskeleton membrane cell junction cell-substrate junction secretory granule cytoplasmic vesicle membrane-enclosed lumen nuclear lumen vesicle vesicle lumen secretory granule lumen azurophil granule lumen azurophil granule organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen plasma membrane raft membrane raft cytoplasmic vesicle lumen intracellular organelle lumen anchoring junction cell periphery mitotic spindle intracellular vesicle plasma membrane region membrane microdomain secretory vesicle ficolin-1-rich granule cellular anatomical entity ficolin-1-rich granule lumen cardiovascular disease disease heart disease brain measurement protein measurement interleukin-6 measurement inflammatory biomarker measurement cytokine measurement nervous system measurement brain volume measurement heart valve disease mitral valve disease comparative body size at age 10, self-reported parietal lobe volume measurement superior parietal cortex volume measurement cryptorchidism abnormality of male external genitalia abnormal testis morphology abnormality of the kidney abnormality of the genital system abnormality of the urinary system duplicated collecting system phenotypic abnormality abnormality of the genitourinary system abnormality of head or neck abnormality of the mouth wide mouth abnormal lip morphology abnormal oral cavity morphology abnormality of the dentition abnormal palate morphology abnormal upper lip morphology high palate abnormality of the head abnormality of the fontanelles or cranial sutures abnormality of skull size microcephaly abnormality of the face abnormal mandible morphology coarse facial features epicanthus abnormality of the philtrum abnormality of the forehead abnormality of the chin pointed chin abnormality of the orbital region hypertelorism narrow forehead long philtrum micrognathia high forehead abnormality of the outer ear abnormal location of ears posteriorly rotated ears abnormality of the nose low-set, posteriorly rotated ears low-set ears abnormality of the middle ear abnormal pinna morphology otitis media recurrent otitis media abnormal nasal bridge morphology abnormal morphology of the nasal alae wide nasal bridge anteverted nares abnormality of the neck webbed neck short neck abnormality of the eye abnormal eyelid morphology downslanted palpebral fissures ptosis abnormality iris morphology abnormal eyebrow morphology abnormal uvea morphology abnormality of the ear blue irides widely spaced teeth microdontia tooth malposition abnormality of the nervous system behavioral abnormality aggressive behavior short attention span anxiety delayed speech and language development hyperactivity abnormal thorax morphology abnormal external genitalia abnormality of the skeletal system abnormality of the vertebral column abnormal skull morphology abnormality of the skin hyperpigmentation of the skin cafe-au-lait spot dry skin edema bruising susceptibility hypertrichosis abnormality of skin pigmentation multiple lentigines lymphedema hirsutism hypermelanotic macule abnormality of the hand abnormality of finger tapered finger intellectual disability seizure hypotonia global developmental delay generalized hypotonia plagiocephaly abnormal joint morphology limitation of joint mobility limited elbow extension joint laxity growth abnormality abnormal rib cage morphology abnormality of the integument abnormal hair morphology abnormality of the voice hoarse voice abnormality of the cardiovascular system abnormal heart morphology atrial septal defect abnormal mitral valve morphology mitral valve prolapse mitral regurgitation abnormal heart valve morphology abnormal cardiac septum morphology abnormal foot morphology talipes equinovarus pes planus bilateral talipes equinovarus abnormality of toe abnormal metatarsal morphology metatarsus adductus overlapping toe abnormality of blood and blood-forming tissues talipes abnormal bleeding subcutaneous hemorrhage abnormality of metabolism/homeostasis abnormal scalp morphology abnormal facial shape morphological central nervous system abnormality gastroesophageal reflux abnormal cerebral morphology low posterior hairline neurological speech impairment generalized-onset seizure generalized hirsutism cavum septum pellucidum language impairment highly arched eyebrow abnormality of the vasculature scoliosis abnormal calvaria morphology abnormality of the immune system recurrent infections abnormality of limb bone morphology abnormality of the lower limb abnormality of the upper limb cubitus valgus aplasia/hypoplasia involving the central nervous system limited elbow movement abnormality of the musculature abnormality of the cervical spine abnormal muscle tone abnormal anterior eye segment morphology abnormal renal collecting system morphology abnormal nasal morphology abnormal cardiac atrium morphology abnormal nostril morphology prominent metopic ridge abnormality of the metopic suture positional foot deformity abnormality of dental morphology abnormal atrioventricular valve morphology abnormal aggressive, impulsive or violent behavior attention deficit hyperactivity disorder aplasia/hypoplasia of the cerebrum abnormal septum pellucidum morphology irregular hyperpigmentation almond-shaped palpebral fissure abnormal iris pigmentation abnormality of the palpebral fissures aplasia/hypoplasia involving the skeleton aplasia/hypoplasia involving bones of the skull aplasia/hypoplasia of the mandible abnormal axial skeleton morphology aplasia/hypoplasia affecting bones of the axial skeleton abnormality of the hairline abnormality of upper limb joint abnormality of the elbow abnormality of the male genitalia abnormality of the curvature of the vertebral column abnormal hair pattern u-shaped upper lip vermilion abnormality of the upper urinary tract abnormal external nose morphology abnormality of immune system physiology abnormality of the gastrointestinal tract abnormal cardiovascular system physiology abnormality of fluid regulation epileptic spasm abnormality of skin morphology abnormality of skin adnexa morphology broad eyebrow vascular skin abnormality abnormal digit morphology abnormality of cranial sutures abnormality of mouth size abnormality of upper lip vermillion generalized abnormality of skin localized skin lesion congenital abnormal hair pattern abnormal hair quantity abnormality of higher mental function abnormality of joint mobility abnormal muscle physiology abnormal facial skeleton morphology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology abnormal atrial septum morphology head-banging abnormal renal morphology abnormal reproductive system morphology abnormal homeostasis abnormal eye morphology abnormal eye physiology abnormality of brain morphology infantile spasms abnormal nervous system physiology abnormal nervous system morphology abnormal inflammatory response increased inflammatory response functional abnormality of the gastrointestinal tract macule neurodevelopmental delay neurodevelopmental abnormality motor seizure abnormality of the digestive system abnormality of digestive system physiology abnormal esophagus physiology abnormal neck morphology clinodactyly abnormality of the posterior hairline abnormal ocular adnexa morphology abnormality of cardiovascular system morphology abnormal jaw morphology impairment in personality functioning abnormal mitral valve physiology abnormal atrioventricular valve physiology abnormal heart valve physiology abnormal ear morphology abnormal oral morphology abnormality of the ocular adnexa unusual infection abnormality of the musculoskeletal system atrioventricular valve regurgitation toe deformity abnormal joint physiology abnormality of limbs abnormality of limb bone abnormal lower limb bone morphology decreased head circumference abnormality of the scalp hair cognitive impairment abnormal forebrain morphology asymmetric growth lower limb asymmetry enlarged thorax self-injurious behavior long fingers abnormal emotion/affect behavior abnormal fear/anxiety-related behavior abnormality of globe location abnormal shape of the palpebral fissure slanting of the palpebral fissure acetylation alternative splicing apoptosis atp-binding cell cycle cytoskeleton dna-binding kinase membrane nucleus nucleotide-binding phosphoprotein repressor serine/threonine-protein kinase transcription transcription regulation transferase ubl conjugation host-virus interaction cytoplasm protein kinase domain mitogen-activated protein (map) kinase, conserved site serine/threonine-protein kinase, active site mitogen-activated protein (map) kinase, erk1/2 protein kinase-like domain superfamily protein kinase, atp binding site serine/threonine protein kinases, catalytic domain mapk cascade response to reactive oxygen species skeletal system development regulation of protein phosphorylation positive regulation of protein phosphorylation response to molecule of bacterial origin immune system process immune system development regulation of immune system process positive regulation of immune system process regulation of leukocyte migration positive regulation of leukocyte migration regulation of leukocyte chemotaxis positive regulation of leukocyte chemotaxis regulation of response to biotic stimulus system process nucleobase-containing compound metabolic process transcription, dna-templated regulation of transcription, dna-templated regulation of transcription by rna polymerase ii protein phosphorylation cellular aromatic compound metabolic process phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process transport cellular ion homeostasis regulation of ph endocytosis autophagy apoptotic process response to stress defense response cellular response to dna damage stimulus dna damage induced protein phosphorylation response to oxidative stress cell cycle cell communication signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein serine/threonine kinase signaling pathway multicellular organism development nervous system development central nervous system development sensory organ development heart development sensory perception metabolic process cell death positive regulation of cell population proliferation catabolic process biosynthetic process macromolecule biosynthetic process cellular response to starvation response to external stimulus response to biotic stimulus response to mechanical stimulus response to bacterium response to abiotic stimulus anatomical structure morphogenesis response to endogenous stimulus embryo development animal organ morphogenesis tissue development regulation of biosynthetic process positive regulation of biosynthetic process positive regulation of metabolic process regulation of catabolic process positive regulation of catabolic process regulation of signal transduction positive regulation of signal transduction cellular process response to extracellular stimulus glial cell differentiation response to organic substance response to inorganic substance response to metal ion response to organonitrogen compound gene expression regulation of gene expression regulation of autophagy positive regulation of autophagy regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process positive regulation of phosphorus metabolic process positive regulation of macromolecule metabolic process positive regulation of gene expression positive regulation of organelle organization regulation of cell communication positive regulation of cell communication regulation of macrophage chemotaxis positive regulation of macrophage chemotaxis programmed cell death neural crest cell development neural crest cell differentiation response to organic cyclic compound rna metabolic process vesicle-mediated transport macroautophagy positive regulation of macroautophagy regulation of macroautophagy phosphorylation peptidyl-tyrosine phosphorylation heterocycle biosynthetic process peptidyl-amino acid modification peptidyl-tyrosine modification regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process cytokine-mediated signaling pathway regulation of metabolic process sensory perception of pain aromatic compound biosynthetic process protein metabolic process cellular homeostasis neurogenesis regulation of signaling signaling positive regulation of signaling cellular cation homeostasis cellular monovalent inorganic cation homeostasis cell differentiation regulation of ossification respiratory tube development lung development regulation of cell migration positive regulation of cell migration bmp signaling pathway regulation of cellular ph thyroid gland development regulation of histone modification positive regulation of histone modification stress-activated protein kinase signaling cascade regulation of cyclase activity positive regulation of cyclase activity regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process regulation of cellular catabolic process positive regulation of cellular catabolic process regulation of defense response positive regulation of defense response regulation of protein modification process positive regulation of protein modification process lipopolysaccharide-mediated signaling pathway response to nutrient levels cellular response to extracellular stimulus cellular response to nutrient levels negative regulation of protein binding regulation of response to external stimulus positive regulation of response to external stimulus regulation of telomere maintenance positive regulation of telomere maintenance regulation of telomere maintenance via telomerase positive regulation of telomere maintenance via telomerase regulation of intracellular transport response to lipopolysaccharide multicellular organismal process developmental process rna biosynthetic process regulation of stress-activated mapk cascade regulation of localization regulation of organelle organization regulation of chromosome organization regulation of histone phosphorylation positive regulation of histone phosphorylation cellular response to stress response to lipid response to cytokine cellular response to amino acid starvation cellular response to oxidative stress response to tumor necrosis factor cellular response to reactive oxygen species cellular nitrogen compound metabolic process nucleobase-containing compound biosynthetic process cardiocyte differentiation regulation of histone acetylation positive regulation of histone acetylation endocrine system development tube development intracellular signal transduction protein modification process peptidyl-tyrosine autophosphorylation regulation of locomotion positive regulation of locomotion gliogenesis regulation of cell population proliferation response to chemical regulation of phosphorylation positive regulation of phosphorylation ear morphogenesis outer ear morphogenesis homeostatic process response to starvation positive regulation of catalytic activity macromolecule metabolic process response to external biotic stimulus response to exogenous dsrna response to dsrna regulation of protein binding regulation of mapk cascade positive regulation of mapk cascade macromolecule modification ear development negative regulation of molecular function positive regulation of molecular function cellular metabolic process primary metabolic process cellular catabolic process cellular biosynthetic process cellular nitrogen compound biosynthetic process biological process involved in interspecies interaction between organisms positive regulation of transcription, dna-templated positive regulation of nucleobase-containing compound metabolic process positive regulation of phosphate metabolic process positive regulation of transcription by rna polymerase ii heterocycle metabolic process response to cadmium ion protein autophosphorylation cell development animal organ development positive regulation of biological process positive regulation of cellular process hematopoietic or lymphoid organ development thymus development embryonic organ morphogenesis embryonic organ development regulation of response to stimulus positive regulation of response to stimulus embryonic morphogenesis animal organ formation anatomical structure formation involved in morphogenesis astrocyte differentiation system development gland development mesenchymal cell differentiation anatomical structure development stem cell differentiation stem cell development cellular developmental process chemical homeostasis regulation of biological process regulation of catalytic activity regulation of cellular process ion homeostasis nervous system process response to stimulus regulation of chemotaxis positive regulation of chemotaxis regulation of transport regulation of dna metabolic process positive regulation of dna metabolic process regulation of dna-binding transcription factor activity regulation of binding negative regulation of binding regulation of cellular component organization positive regulation of cellular component organization regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process localization cartilage development establishment of localization regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process regulation of rna metabolic process positive regulation of rna metabolic process regulation of transferase activity positive regulation of transferase activity stress-activated mapk cascade regulation of cytoskeleton organization response to other organism cellular response to stimulus regulation of telomerase activity positive regulation of telomerase activity monovalent inorganic cation homeostasis cation homeostasis cellular chemical homeostasis bergmann glial cell differentiation regulation of macromolecule metabolic process head development face development regulation of cellular localization lung morphogenesis trachea development trachea morphogenesis trachea formation mesenchyme development respiratory system development regulation of vesicle-mediated transport cardiac neural crest cell differentiation involved in heart development cardiac neural crest cell development involved in heart development connective tissue development selective autophagy process utilizing autophagic mechanism cellular response to chemical stress biological regulation regulation of biological quality regulation of molecular function regulation of stress-activated protein kinase signaling cascade erk1 and erk2 cascade regulation of erk1 and erk2 cascade positive regulation of erk1 and erk2 cascade interleukin-1-mediated signaling pathway response to interleukin-1 regulation of leukocyte proliferation positive regulation of leukocyte proliferation response to growth factor response to epidermal growth factor cellular response to chemical stimulus cellular response to abiotic stimulus cellular response to biotic stimulus cellular response to molecule of bacterial origin cellular response to lipopolysaccharide cellular response to inorganic substance cellular response to metal ion cellular response to mechanical stimulus cellular response to cadmium ion cellular response to organic substance cellular response to cytokine stimulus cellular response to interleukin-1 cellular response to tumor necrosis factor cellular response to growth factor stimulus cellular response to lipid cellular response to organic cyclic compound cellular response to organonitrogen compound cellular response to endogenous stimulus cellular response to external stimulus regulation of granulocyte chemotaxis regulation of mononuclear cell migration organic substance metabolic process response to bmp cellular response to bmp stimulus response to monoamine cellular response to monoamine stimulus response to catecholamine cellular response to catecholamine stimulus circulatory system development caveolin-mediated endocytosis regulation of primary metabolic process regulation of response to stress regulation of cellular response to stress regulation of golgi inheritance nucleic acid metabolic process sensory organ morphogenesis nucleic acid-templated transcription defense response to other organism inorganic ion homeostasis xenophagy cellular response to environmental stimulus regulation of macrophage proliferation positive regulation of macrophage proliferation organic cyclic compound metabolic process organic cyclic compound biosynthetic process organonitrogen compound metabolic process organic substance biosynthetic process response to nitrogen compound cellular response to nitrogen compound response to oxygen-containing compound cellular response to oxygen-containing compound regulation of protein acetylation positive regulation of protein acetylation regulation of intracellular signal transduction positive regulation of intracellular signal transduction positive regulation of rna biosynthetic process response to dopamine cellular response to dopamine regulation of golgi organization regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription regulation of cytoplasmic transport regulation of telomere capping positive regulation of telomere capping regulation of telomere maintenance via telomere lengthening positive regulation of telomere maintenance via telomere lengthening regulation of xenophagy positive regulation of xenophagy regulation of macrophage migration positive regulation of macrophage migration response to amino acid starvation regulation of cell motility positive regulation of cell motility regulation of dna biosynthetic process positive regulation of dna biosynthetic process regulation of early endosome to late endosome transport regulation of apolipoprotein binding negative regulation of apolipoprotein binding regulation of peptidyl-lysine acetylation positive regulation of peptidyl-lysine acetylation regulation of rna biosynthetic process positive regulation of chromosome organization nucleotide binding phosphotyrosine residue binding catalytic activity protein kinase activity protein serine/threonine kinase activity map kinase activity map kinase kinase activity protein serine/threonine/tyrosine kinase activity binding protein binding atp binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding enzyme binding phosphatase binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding identical protein binding ion binding anion binding protein phosphorylated amino acid binding phosphoprotein binding organic cyclic compound binding carbohydrate derivative binding protein serine kinase activity catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding intracellular anatomical structure nucleus nuclear envelope nucleoplasm cytoplasm mitochondrion endosome early endosome late endosome endoplasmic reticulum endoplasmic reticulum lumen golgi apparatus cytosol cytoskeleton plasma membrane caveola focal adhesion endomembrane system membrane cell junction cell-substrate junction pseudopodium cytoplasmic vesicle organelle envelope membrane-enclosed lumen envelope nuclear lumen vesicle cell projection organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen plasma membrane raft membrane raft intracellular organelle lumen anchoring junction cell periphery intracellular vesicle plasma membrane region membrane microdomain cellular anatomical entity plasma membrane bounded cell projection mixed, incl. small gtpase, ras-type, and ras-like guanine nucleotide exchange factor, n-terminal mixed, incl. signalling to erks, and ras gtpase-activating protein mixed, incl. inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and ras gtpase-activating protein mixed, incl. inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and cardiofaciocutaneous syndrome inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and cardiofaciocutaneous syndrome negative feedback regulation of mapk pathway, and ras gtpase cycle mutants egfr tyrosine kinase inhibitor resistance endocrine resistance platinum drug resistance mapk signaling pathway erbb signaling pathway ras signaling pathway rap1 signaling pathway cgmp-pkg signaling pathway camp signaling pathway chemokine signaling pathway hif-1 signaling pathway foxo signaling pathway sphingolipid signaling pathway phospholipase d signaling pathway oocyte meiosis autophagy - animal mtor signaling pathway pi3k-akt signaling pathway apoptosis cellular senescence adrenergic signaling in cardiomyocytes vascular smooth muscle contraction tgf-beta signaling pathway axon guidance vegf signaling pathway apelin signaling pathway osteoclast differentiation focal adhesion adherens junction gap junction signaling pathways regulating pluripotency of stem cells platelet activation toll-like receptor signaling pathway nod-like receptor signaling pathway c-type lectin receptor signaling pathway natural killer cell mediated cytotoxicity il-17 signaling pathway th1 and th2 cell differentiation th17 cell differentiation t cell receptor signaling pathway b cell receptor signaling pathway fc epsilon ri signaling pathway fc gamma r-mediated phagocytosis tnf signaling pathway circadian entrainment long-term potentiation neurotrophin signaling pathway retrograde endocannabinoid signaling glutamatergic synapse cholinergic synapse serotonergic synapse long-term depression regulation of actin cytoskeleton insulin signaling pathway gnrh signaling pathway progesterone-mediated oocyte maturation estrogen signaling pathway melanogenesis prolactin signaling pathway thyroid hormone signaling pathway oxytocin signaling pathway relaxin signaling pathway parathyroid hormone synthesis, secretion and action gnrh secretion type ii diabetes mellitus age-rage signaling pathway in diabetic complications cushing syndrome growth hormone synthesis, secretion and action aldosterone-regulated sodium reabsorption alzheimer disease prion disease alcoholism pathogenic escherichia coli infection shigellosis salmonella infection pertussis yersinia infection leishmaniasis chagas disease toxoplasmosis tuberculosis hepatitis c hepatitis b human cytomegalovirus infection influenza a human papillomavirus infection human t-cell leukemia virus 1 infection kaposi sarcoma-associated herpesvirus infection human immunodeficiency virus 1 infection pathways in cancer viral carcinogenesis proteoglycans in cancer micrornas in cancer colorectal cancer renal cell carcinoma pancreatic cancer endometrial cancer glioma prostate cancer thyroid cancer melanoma bladder cancer chronic myeloid leukemia acute myeloid leukemia non-small cell lung cancer breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer choline metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer apoptosis hemostasis intrinsic pathway for apoptosis mapk3 (erk1) activation formation of apoptosome cytochrome c-mediated apoptotic response apoptotic factor-mediated response neurotransmitter receptors and postsynaptic signal transmission transmission across chemical synapses neuronal system raf-independent mapk1/3 activation isg15 antiviral mechanism antiviral mechanism by ifn-stimulated genes signaling by nodal pip3 activates akt signaling developmental biology cytokine signaling in immune system spry regulation of fgf signaling signaling by activin signal transduction golgi cisternae pericentriolar stack reorganization cell cycle disease toll like receptor 4 (tlr4) cascade myd88:mal(tirap) cascade initiated on plasma membrane myd88-independent tlr4 cascade signaling by ntrks toll like receptor 9 (tlr9) cascade toll like receptor 10 (tlr10) cascade toll like receptor 3 (tlr3) cascade toll like receptor 5 (tlr5) cascade toll like receptor tlr1:tlr2 cascade toll like receptor 7/8 (tlr7/8) cascade toll like receptor tlr6:tlr2 cascade innate immune system immune system toll-like receptor cascades prolonged erk activation events signaling by tgf-beta receptor complex frs2-mediated activation toll like receptor 2 (tlr2) cascade signaling by ntrk1 (trka) signalling to erks signaling by fgfr signaling by rho gtpases rho gtpase effectors nuclear events (kinase and transcription factor activation) erk/mapk targets negative regulation of the pi3k/akt network erks are inactivated fcgamma receptor (fcgr) dependent phagocytosis regulation of actin dynamics for phagocytic cup formation generic transcription pathway transcriptional activity of smad2/smad3:smad4 heterotrimer downregulation of smad2/3:smad4 transcriptional activity smad2/smad3:smad4 heterotrimer regulates transcription cellular responses to stress fc epsilon receptor (fceri) signaling oxidative stress induced senescence senescence-associated secretory phenotype (sasp) cellular senescence oncogene induced senescence fceri mediated mapk activation regulation of hsf1-mediated heat shock response cellular response to heat stress signaling by gpcr l1cam interactions ncam signaling for neurite out-growth gpcr downstream signalling g alpha (q) signalling events axon guidance post nmda receptor activation events creb1 phosphorylation through nmda receptor-mediated activation of ras signaling activation of nmda receptors and postsynaptic events rsk activation signal transduction by l1 interleukin-17 signaling signaling by interleukins mapk targets/ nuclear events mediated by map kinases map kinase activation activation of the ap-1 family of transcription factors thrombin signalling through proteinase activated receptors (pars) programmed cell death negative regulation of fgfr1 signaling negative regulation of fgfr2 signaling negative regulation of fgfr3 signaling negative regulation of fgfr4 signaling signaling by fgfr1 signaling by fgfr2 signaling by fgfr3 signaling by fgfr4 diseases of signal transduction by growth factor receptors and second messengers infectious disease rho gtpases activate wasps and waves rho gtpases activate nadph oxidases raf/map kinase cascade map2k and mapk activation negative feedback regulation of mapk pathway negative regulation of mapk pathway mapk family signaling cascades mapk1/mapk3 signaling signaling by moderate kinase activity braf mutants signaling by high-kinase activity braf mutants signaling by ras mutants signaling by braf and raf1 fusions paradoxical activation of raf signaling by kinase inactive braf oncogenic mapk signaling pten regulation pi5p, pp2a and ier3 regulate pi3k/akt signaling mitotic prophase m phase cell cycle, mitotic rna polymerase i promoter opening rna polymerase i promoter clearance rna polymerase ii transcription rna polymerase i transcription gene expression (transcription) signal attenuation insulin receptor signalling cascade signaling by insulin receptor platelet activation, signaling and aggregation advanced glycosylation endproduct receptor signaling gastrin-creb signalling pathway via pkc and mapk transcriptional regulation by runx2 esr-mediated signaling runx2 regulates osteoblast differentiation runx2 regulates bone development regulation of pten gene transcription cellular responses to stimuli intracellular signaling by second messengers signaling by nuclear receptors signaling by receptor tyrosine kinases signaling by tgfb family members extra-nuclear estrogen signaling interferon signaling trif(ticam1)-mediated tlr4 signaling regulation of the apoptosome activity estrogen-dependent nuclear events downstream of esr-membrane signaling transcriptional regulation by npas4 suppression of apoptosis infection with mycobacterium tuberculosis response of mtb to phagocytosis signaling downstream of ras mutants signaling by map2k mutants signaling by raf1 mutants leishmania infection parasite infection leishmania phagocytosis fcgr3a-mediated phagocytosis nervous system development signaling by alk in cancer signaling by rho gtpases, miro gtpases and rhobtb3 signaling by alk fusions and activated point mutants nuclear events stimulated by alk signaling in cancer traf6 mediated induction of nfkb and map kinases upon tlr7/8 or 9 activation myd88 dependent cascade initiated on endosome myd88 cascade initiated on plasma membrane npas4 regulates expression of target genes growth hormone receptor signaling il-5 signaling pathway osteopontin signaling micrornas in cardiomyocyte hypertrophy apoptosis modulation and signaling il-1 signaling pathway thyroxine (thyroid hormone) production rankl/rank signaling pathway thyroid stimulating hormone (tsh) signaling pathway leptin signaling pathway follicle stimulating hormone (fsh) signaling pathway tnf-related weak inducer of apoptosis (tweak) signaling pathway prolactin signaling pathway il-7 signaling pathway alzheimers disease and mirna effects il-17 signaling pathway il-9 signaling pathway thymic stromal lymphopoietin (tslp) signaling pathway glioblastoma signaling pathways androgen receptor network in prostate cancer tnf-alpha signaling pathway age/rage pathway interleukin-11 signaling pathway corticotropin-releasing hormone signaling pathway oncostatin m signaling pathway brain-derived neurotrophic factor (bdnf) signaling pathway spinal cord injury alpha 6 beta 4 signaling pathway pdgf pathway s1p receptor signal transduction common pathways underlying drug addiction interleukin-1 (il-1) structural pathway cardiac hypertrophic response il-3 signaling pathway tca cycle nutrient use and invasiveness of ovarian cancer kit receptor signaling pathway focal adhesion hepatocyte growth factor receptor signaling mfap5-mediated ovarian cancer cell motility and invasiveness rac1/pak1/p38/mmp2 pathway il6 signaling pathway hepatitis c and hepatocellular carcinoma hypothesized pathways in pathogenesis of cardiovascular disease mapk signaling pathway tgf-beta signaling in thyroid cells for epithelial-mesenchymal transition t-cell antigen receptor (tcr) pathway during staphylococcus aureus infection cannabinoid receptor signaling 4-hydroxytamoxifen, dexamethasone, and retinoic acids regulation of p27 expression vegfa-vegfr2 signaling angiopoietin-like protein 8 regulatory pathway bmp signaling in eyelid development chemokine signaling pathway focal adhesion: pi3k-akt-mtor-signaling pathway il-4 signaling pathway pdgfr-beta pathway prion disease pathway endometrial cancer pi3k-akt signaling pathway met in type 1 papillary renal cell carcinoma chromosomal and microsatellite instability in colorectal cancer  ebola virus infection in host mapk cascade ras signaling epithelial to mesenchymal transition in colorectal cancer non-small cell lung cancer breast cancer pathway pancreatic adenocarcinoma pathway acute viral myocarditis inhibition of exosome biogenesis and secretion by manumycin a in crpc cells neovascularisation processes non-genomic actions of 1,25 dihydroxyvitamin d3 bile acids synthesis and enterohepatic circulation  resistin as a regulator of inflammation relationship between inflammation, cox-2 and egfr envelope proteins and their potential roles in edmd physiopathology regulatory circuits of the stat3 signaling pathway synaptic signaling pathways associated with autism spectrum disorder fbxl10 enhancement of map/erk signaling in diffuse large b-cell lymphoma mfap5 effect on permeability and motility of endothelial cells via cytoskeleton rearrangement translation inhibitors in chronically activated pdgfra cells gastrin signaling pathway hepatitis b infection melanoma netrin-unc5b signaling pathway il-18 signaling pathway fgfr3 signaling in chondrocyte proliferation and terminal differentiation osteoblast differentiation and related diseases egfr tyrosine kinase inhibitor resistance insulin signaling tgf-beta receptor signaling in skeletal dysplasias kisspeptin/kisspeptin receptor system in the ovary camkk2 pathway disruption of postsynaptic signaling by cnv host-pathogen interaction of human coronaviruses - mapk signaling il-2 signaling pathway mapk pathway in congenital thyroid cancer 7q11.23 copy number variation syndrome 16p11.2 proximal deletion syndrome neuroinflammation and glutamatergic signaling malignant pleural mesothelioma t-cell activation sars-cov-2 regulation of actin cytoskeleton alzheimers disease nrp1-triggered signaling pathways in pancreatic cancer 2q11.2 copy number variation syndrome genetic causes of porto-sinusoidal vascular disease tgf-beta receptor signaling epo receptor signaling erbb signaling pathway t-cell receptor signaling pathway serotonin htr1 group and fos pathway serotonin receptor 2 and elk-srf/gata4 signaling serotonin receptor 4/6/7 and nr3c signaling toll-like receptor signaling pathway tissues, cell types and enzyme sources animal brain carcinoma cell cervical carcinoma cell central nervous system head epithelioma cell erythroleukemia cell hematopoietic system blood cancer cell bone marrow cancer cell liver cancer cell adenocarcinoma cell hepatoma cell lymphocytic leukemia cell lymph leukemia cell nervous system whole body chronic lymphocytic leukemia cell t-cell chronic lymphocytic leukemia cell intracellular nucleus nuclear envelope nucleoplasm cytoplasm mitochondrion endosome early endosome late endosome endoplasmic reticulum endoplasmic reticulum lumen golgi apparatus cytosol cytoskeleton plasma membrane caveola focal adhesion endomembrane system membrane cell junction cell-substrate junction cytoplasmic vesicle organelle envelope membrane-enclosed lumen envelope nuclear lumen vesicle organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen plasma membrane raft membrane raft intracellular organelle lumen anchoring junction cell periphery intracellular vesicle plasma membrane region membrane microdomain cellular anatomical entity anthropometric measurement body weights and measures body mass index protein measurement blood protein measurement acetylation alternative splicing apoptosis atp-binding cell cycle kinase membrane nucleus nucleotide-binding phosphoprotein serine/threonine-protein kinase transferase host-virus interaction cytoplasm protein kinase domain mitogen-activated protein (map) kinase, conserved site serine/threonine-protein kinase, active site mitogen-activated protein (map) kinase, erk1/2 protein kinase-like domain superfamily protein kinase, atp binding site serine/threonine protein kinases, catalytic domain cell morphogenesis cell morphogenesis involved in differentiation morphogenesis of a branching structure endothelial cell development endothelial cell morphogenesis liver development morphogenesis of an epithelium epithelial cell development endothelium development epithelial cell morphogenesis regulation of transcription, dna-templated regulation of transcription by rna polymerase ii protein phosphorylation phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process transport phagocytosis chemotaxis cell communication signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway multicellular organism development nervous system development metabolic process regulation of g protein-coupled receptor signaling pathway response to external stimulus anatomical structure morphogenesis tissue development regulation of biosynthetic process positive regulation of biosynthetic process negative regulation of metabolic process positive regulation of metabolic process regulation of catabolic process negative regulation of catabolic process regulation of signal transduction positive regulation of signal transduction negative regulation of signal transduction cellular process regulation of gene expression regulation of autophagy negative regulation of autophagy regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process positive regulation of phosphorus metabolic process regulation of endothelial cell migration positive regulation of endothelial cell migration positive regulation of macromolecule metabolic process regulation of epithelial cell migration positive regulation of epithelial cell migration positive regulation of organelle organization negative regulation of organelle organization regulation of cell communication positive regulation of cell communication negative regulation of cell communication regulation of cell death vesicle-mediated transport phosphorylation cell migration peptidyl-tyrosine phosphorylation peptidyl-amino acid modification peptidyl-tyrosine modification regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process protein metabolic process neurogenesis regulation of signaling signaling positive regulation of signaling negative regulation of signaling water homeostasis cell differentiation neuron differentiation regulation of cell migration positive regulation of cell migration epithelial cell differentiation pancreas development regulation of microtubule polymerization or depolymerization positive regulation of microtubule polymerization or depolymerization regulation of microtubule polymerization positive regulation of microtubule polymerization regulation of cellular metabolic process negative regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process regulation of cellular catabolic process negative regulation of cellular catabolic process positive regulation of protein-containing complex assembly regulation of response to external stimulus positive regulation of response to external stimulus regulation of actin filament bundle assembly negative regulation of actin filament bundle assembly regulation of protein polymerization positive regulation of protein polymerization multicellular organismal process developmental process regulation of microtubule-based process regulation of actin cytoskeleton organization regulation of actin filament-based process regulation of organelle organization regulation of water loss via skin positive regulation of kinase activity regulation of rho protein signal transduction negative regulation of rho protein signal transduction tube morphogenesis tube development protein modification process locomotion regulation of locomotion positive regulation of locomotion response to chemical regulation of phosphorylation positive regulation of phosphorylation taxis homeostatic process regulation of programmed cell death negative regulation of programmed cell death positive regulation of catalytic activity regulation of gtpase activity macromolecule metabolic process regulation of protein-containing complex assembly macromolecule modification regulation of kinase activity skin development regulation of cellular component biogenesis positive regulation of cellular component biogenesis negative regulation of molecular function positive regulation of molecular function cellular metabolic process primary metabolic process endothelial cell differentiation negative regulation of g protein-coupled receptor signaling pathway positive regulation of transcription, dna-templated positive regulation of nucleobase-containing compound metabolic process positive regulation of phosphate metabolic process positive regulation of transcription by rna polymerase ii regulation of ras protein signal transduction negative regulation of ras protein signal transduction hepatocyte growth factor receptor signaling pathway cell development animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process regulation of response to stimulus positive regulation of response to stimulus negative regulation of response to stimulus generation of neurons tissue morphogenesis system development gland development branching morphogenesis of an epithelial tube anatomical structure development cellular developmental process cell motility multicellular organismal homeostasis chemical homeostasis regulation of biological process regulation of catalytic activity regulation of cellular process regulation of body fluid levels multicellular organismal water homeostasis response to stimulus positive chemotaxis regulation of chemotaxis positive regulation of chemotaxis regulation of small gtpase mediated signal transduction negative regulation of small gtpase mediated signal transduction regulation of binding positive regulation of binding regulation of cellular component organization negative regulation of cellular component organization positive regulation of cellular component organization regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process localization establishment of localization regulation of multicellular organismal process regulation of rna metabolic process positive regulation of rna metabolic process regulation of hydrolase activity regulation of transferase activity positive regulation of transferase activity regulation of stress fiber assembly regulation of cytoskeleton organization negative regulation of cytoskeleton organization positive regulation of cytoskeleton organization negative regulation of stress fiber assembly cellular response to stimulus regulation of protein kinase b signaling positive regulation of protein kinase b signaling regulation of macromolecule metabolic process epithelium development negative regulation of cell death epithelial tube morphogenesis hepaticobiliary system development morphogenesis of a branching epithelium establishment of skin barrier biological regulation regulation of biological quality regulation of molecular function regulation of thrombin-activated receptor signaling pathway negative regulation of thrombin-activated receptor signaling pathway regulation of microtubule cytoskeleton organization semaphorin-plexin signaling pathway organic substance metabolic process regulation of primary metabolic process regulation of response to stress regulation of cellular response to stress regulation of actomyosin structure organization regulation of actin filament organization regulation of cellular response to oxidative stress regulation of response to reactive oxygen species negative regulation of response to reactive oxygen species regulation of hydrogen peroxide-mediated programmed cell death negative regulation of hydrogen peroxide-mediated programmed cell death organonitrogen compound metabolic process regulation of intracellular signal transduction negative regulation of intracellular signal transduction positive regulation of intracellular signal transduction positive regulation of rna biosynthetic process regulation of response to oxidative stress negative regulation of response to oxidative stress regulation of supramolecular fiber organization negative regulation of supramolecular fiber organization positive regulation of supramolecular fiber organization regulation of oxidative stress-induced cell death negative regulation of oxidative stress-induced cell death regulation of hydrogen peroxide-induced cell death negative regulation of hydrogen peroxide-induced cell death regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription regulation of gtp binding regulation of guanyl-nucleotide exchange factor activity negative regulation of guanyl-nucleotide exchange factor activity regulation of cell motility positive regulation of cell motility regulation of endothelial cell chemotaxis positive regulation of endothelial cell chemotaxis regulation of rna biosynthetic process nucleotide binding catalytic activity protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity transmembrane signaling receptor activity hepatocyte growth factor receptor activity binding protein binding atp binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding semaphorin receptor activity transmembrane receptor protein kinase activity enzyme binding phosphatase binding protein phosphatase binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding signaling receptor activity identical protein binding ion binding anion binding molecular transducer activity organic cyclic compound binding carbohydrate derivative binding catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding extracellular region plasma membrane integral component of plasma membrane basal plasma membrane cell surface membrane integral component of membrane intrinsic component of membrane intrinsic component of plasma membrane protein-containing complex receptor complex basal part of cell cell periphery plasma membrane region cellular anatomical entity mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and tyrosine-protein kinase, catalytic domain mixed, incl. constitutive signaling by aberrant pi3k in cancer, and fceri mediated ca+2 mobilization constitutive signaling by aberrant pi3k in cancer, and vegf ligand-receptor interactions constitutive signaling by aberrant pi3k in cancer, and vegf ligand-receptor interactions mixed, incl. fgfr2 ligand binding and activation, and pdgf/vegf domain activated point mutants of fgfr2, and fibroblast growth factor receptor activity fgfr4 ligand binding and activation, and ladd syndrome egfr tyrosine kinase inhibitor resistance mapk signaling pathway ras signaling pathway rap1 signaling pathway pi3k-akt signaling pathway axon guidance focal adhesion adherens junction bacterial invasion of epithelial cells epithelial cell signaling in helicobacter pylori infection malaria pathways in cancer transcriptional misregulation in cancer proteoglycans in cancer micrornas in cancer renal cell carcinoma melanoma non-small cell lung cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer pip3 activates akt signaling developmental biology signal transduction disease negative regulation of the pi3k/akt network generic transcription pathway pi3k/akt signaling in cancer constitutive signaling by aberrant pi3k in cancer semaphorin interactions sema4d in semaphorin signaling sema4d mediated inhibition of cell attachment and migration axon guidance diseases of signal transduction by growth factor receptors and second messengers infectious disease raf/map kinase cascade mapk family signaling cascades mapk1/mapk3 signaling signaling by met met receptor activation negative regulation of met activity pi5p, pp2a and ier3 regulate pi3k/akt signaling rna polymerase ii transcription gene expression (transcription) met activates ras signaling met activates pi3k/akt signaling met activates ptpn11 met activates ptk2 signaling inlb-mediated entry of listeria monocytogenes into host cell met interacts with tns proteins met activates rap1 and rac1 met receptor recycling met activates stat3 met promotes cell motility listeria monocytogenes entry into host cells transcriptional regulation by mecp2 intracellular signaling by second messengers signaling by receptor tyrosine kinases mecp2 regulates neuronal receptors and channels nervous system development drug-mediated inhibition of met activation glioblastoma signaling pathways extracellular vesicle-mediated signaling in recipient cells focal adhesion hepatocyte growth factor receptor signaling tgf-beta signaling pathway focal adhesion: pi3k-akt-mtor-signaling pathway pi3k-akt signaling pathway met in type 1 papillary renal cell carcinoma ras signaling hippo signaling regulation pathways hippo-merlin signaling dysregulation egfr tyrosine kinase inhibitor resistance malignant pleural mesothelioma nrp1-triggered signaling pathways in pancreatic cancer sensory system disease lower respiratory tract disease nonsyndromic deafness respiratory system cancer organ system cancer cell type cancer hepatobiliary system cancer lung cancer disease of cellular proliferation respiratory system disease cancer urinary system disease kidney cancer auditory system disease adenocarcinoma carcinoma hepatobiliary disease gastrointestinal system cancer urinary system cancer disease bile duct disease renal cell carcinoma renal carcinoma hereditary renal cell carcinoma bile duct cancer biliary tract cancer bile duct adenocarcinoma bile duct carcinoma cholangiocarcinoma kidney disease familial renal papillary carcinoma disease of anatomical entity gastrointestinal system disease lung disease nervous system disease biliary tract disease tissues, cell types and enzyme sources animal brain brain stem carcinoma cell cervical carcinoma cell central nervous system cerebellum head carcinoma cell line digestive gland lung cell line epithelioma cell gland liver cancer cell adenocarcinoma cell hepatoma cell hindbrain metencephalon liver lung cancer cell line epithelial cell line nervous system endocrine gland whole body viscus squamous cell carcinoma cell line lung squamous cell carcinoma cell line ebc-1 cell extracellular region plasma membrane basal plasma membrane cell surface membrane integral component of membrane basolateral plasma membrane intrinsic component of membrane basal part of cell cell periphery plasma membrane region cellular anatomical entity sign or symptom pain pulmonary function measurement cardiovascular measurement leukocyte count hematocrit hematological measurement hemoglobin measurement lipid measurement triglyceride measurement serum gamma-glutamyl transferase measurement liver enzyme measurement complete blood cell count fev/fec ratio serum alanine aminotransferase measurement protein measurement neutrophil count lipid or lipoprotein measurement cardiovascular disease biomarker measurement smoking initiation pulse pressure measurement respiratory disease biomarker drug use measurement reproductive behaviour measurement blood protein measurement granulocyte count myeloid white cell count age at first sexual intercourse measurement beta blocking agent use measurement abnormality of the kidney abnormality of the urinary system phenotypic abnormality abnormality of the genitourinary system abnormality of the nervous system behavioral abnormality emotional lability abnormal thorax morphology abnormal sternum morphology pectus excavatum abnormality of the endocrine system diabetes mellitus abnormality of the skeletal system abnormality of the skin jaundice edema dermatological manifestations of systemic disorders biliary tract abnormality encephalopathy abnormality of the liver cirrhosis hepatic fibrosis cholestasis hepatocellular carcinoma portal hypertension micronodular cirrhosis abnormal abdomen morphology growth abnormality ascites abnormality of the integument abnormality of the cardiovascular system weight loss abnormality of blood and blood-forming tissues abnormality of thrombocytes thrombocytopenia abnormal erythrocyte morphology abnormal bleeding thrombocytosis polycythemia anemia abnormality of metabolism/homeostasis hypoglycemia fever alkalosis glucose intolerance abnormal thrombosis abnormality of the abdominal organs vomiting diarrhea nausea and vomiting abdominal pain abnormal esophagus morphology abnormal rectum morphology anorexia esophageal varix abnormality of the respiratory system dyspnea hepatomegaly abnormal intestine morphology abnormal large intestine morphology hepatic encephalopathy abnormality of the vasculature hepatic necrosis hypotension abnormal venous morphology budd-chiari syndrome bone pain neoplasm abnormality of the immune system abnormal pattern of respiration abnormal respiratory system physiology abnormality of limb bone morphology abnormality of the lower limb neoplasm of the liver hypokalemia hyponatremia hyperbilirubinemia elevated hepatic transaminase abnormality of the calf abnormality of fibula morphology short long bone fibular hypoplasia hypercalcemia hypoalbuminemia abnormal blood ion concentration abdominal distention visceromegaly abnormality of the biliary system abnormality of body weight decreased body weight abnormal circulating carboxylic acid concentration abnormality of acid-base homeostasis abnormal circulating calcium concentration abnormal circulating nitrogen compound concentration abnormality of temperature regulation poor appetite venous thrombosis venous insufficiency renal cell carcinoma pseudoarthrosis type ii diabetes mellitus elevated alpha-fetoprotein aplasia/hypoplasia of the fibula aplasia/hypoplasia involving bones of the lower limbs viral hepatitis subacute progressive viral hepatitis abnormality of the hepatic vasculature papillary renal cell carcinoma neoplasm of the gastrointestinal tract neoplasm of the genitourinary tract generalized edema aplasia/hypoplasia involving the skeleton abnormal axial skeleton morphology renal neoplasm aplasia/hypoplasia of the extremities pedal edema urinary tract neoplasm abnormal circulating protein concentration abnormal blood inorganic cation concentration abnormal blood cation concentration abnormal blood monovalent inorganic cation concentration abnormal blood sodium concentration abnormality of the upper urinary tract abnormality of immune system physiology abnormal circulating dicarboxylic acid concentration abnormal glucose homeostasis abnormal blood glucose concentration abnormality of the gastrointestinal tract abnormal cardiovascular system physiology abnormality of blood circulation internal hemorrhage abnormality of fluid regulation abnormal blood potassium concentration abnormality of skin morphology abnormal long bone morphology generalized abnormality of skin abdominal symptom neoplasm by anatomical site abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology abnormal platelet count abnormal platelet morphology anasarca hepatitis abnormal circulating albumin concentration abnormal homeostasis fatigue abnormal enzyme/coenzyme activity abnormal biliary tract physiology pain abnormal nervous system physiology abnormal inflammatory response increased inflammatory response morphological abnormality of the gastrointestinal tract anorectal anomaly abnormal vascular morphology abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology constitutional symptom abscess abnormal vascular physiology portal vein thrombosis splanchnic vein thrombosis abnormality of cardiovascular system morphology abnormality of venous physiology abnormal systemic blood pressure impairment in personality functioning abnormal circulating metabolite concentration abnormal immune system morphology increased blood pressure abnormality of the musculoskeletal system abnormal blood vessel morphology abnormal circulating bilirubin concentration abnormality of limbs abnormality of limb bone abnormal lower limb bone morphology abnormal levels of alpha-fetoprotein aplasia/hypoplasia involving bones of the extremities liver abscess hemobilia abnormal emotion/affect behavior metabolic alkalosis epigastric pain abnormal liver morphology alternative splicing atp-binding chromosomal rearrangement deafness glycoprotein kinase membrane nucleotide-binding phosphoprotein proto-oncogene receptor repeat signal transferase transmembrane tyrosine-protein kinase ubl conjugation secreted non-syndromic deafness disulfide bond transmembrane helix protein kinase domain serine-threonine/tyrosine-protein kinase, catalytic domain sema domain plexin repeat ipt domain tyrosine-protein kinase, active site protein kinase-like domain superfamily immunoglobulin-like fold immunoglobulin e-set wd40/yvtn repeat-like-containing domain superfamily psi domain tyrosine-protein kinase, hgf/msp receptor protein kinase, atp binding site tyrosine-protein kinase, catalytic domain plexin family sema domain superfamily tyrosine kinase, catalytic domain domain found in plexins, semaphorins and integrins ig-like, plexins, transcription factors semaphorin domain reproduction response to acid chemical action potential regulation of cell growth response to hypoxia cell activation regulation of protein phosphorylation positive regulation of protein phosphorylation adaptive immune response immune effector process cell activation involved in immune response lymphocyte activation involved in immune response t cell activation involved in immune response alpha-beta t cell activation involved in immune response t cell differentiation involved in immune response alpha-beta t cell differentiation involved in immune response cd4-positive, alpha-beta t cell differentiation involved in immune response t-helper cell lineage commitment t-helper 1 cell lineage commitment t cell lineage commitment alpha-beta t cell lineage commitment leukocyte activation involved in immune response immune system process adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains immune system development leukocyte differentiation regulation of immune system process regulation of myeloid leukocyte differentiation developmental process involved in reproduction heart morphogenesis system process muscle system process circulatory system process heart process heart valve development heart valve morphogenesis generation of precursor metabolites and energy regulation of carbohydrate metabolic process regulation of glycolytic process energy reserve metabolic process nucleobase-containing compound metabolic process regulation of nucleotide metabolic process pyrimidine nucleobase metabolic process de novo pyrimidine nucleobase biosynthetic process regulation of transcription, dna-templated regulation of transcription by rna polymerase i regulation of transcription by rna polymerase iii regulation of translation regulation of translational initiation protein phosphorylation cellular aromatic compound metabolic process phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process autophagy apoptotic process muscle contraction striated muscle contraction response to stress defense response inflammatory response immune response response to osmotic stress cellular response to dna damage stimulus organelle organization cytoskeleton organization vacuole organization lysosome organization cell communication signal transduction multicellular organism development gamete generation germ cell development nervous system development central nervous system development heart development response to nutrient behavior blood circulation regulation of actin polymerization or depolymerization metabolic process cell death regulation of cell size catabolic process macromolecule catabolic process biosynthetic process nucleobase metabolic process response to temperature stimulus cellular response to starvation response to heat response to external stimulus response to abiotic stimulus anatomical structure morphogenesis response to endogenous stimulus response to hormone post-embryonic development animal organ morphogenesis tissue development regulation of biosynthetic process positive regulation of biosynthetic process negative regulation of metabolic process positive regulation of metabolic process regulation of catabolic process negative regulation of catabolic process positive regulation of catabolic process regulation of signal transduction negative regulation of signal transduction cellular process response to extracellular stimulus glial cell differentiation response to organic substance response to organonitrogen compound regulation of gene expression regulation of autophagy negative regulation of autophagy regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process positive regulation of phosphorus metabolic process regulation of lamellipodium assembly positive regulation of lamellipodium assembly positive regulation of macromolecule metabolic process post-transcriptional regulation of gene expression positive regulation of gene expression regulation of epithelial cell migration positive regulation of epithelial cell migration positive regulation of organelle organization regulation of cell communication negative regulation of cell communication regulation of cellular carbohydrate metabolic process regulation of epithelial to mesenchymal transition positive regulation of epithelial to mesenchymal transition positive regulation of cell development regulation of myotube differentiation positive regulation of myotube differentiation regulation of phosphatase activity positive regulation of phosphatase activity regulation of cell death programmed cell death regulation of gliogenesis positive regulation of gliogenesis striated muscle tissue development energy derivation by oxidation of organic compounds cellular component organization macroautophagy regulation of macroautophagy negative regulation of macroautophagy phosphorylation peptidyl-serine phosphorylation peptidyl-threonine phosphorylation heterocycle biosynthetic process peptidyl-amino acid modification peptidyl-serine modification peptidyl-threonine modification regulation of lipid metabolic process regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process transmission of nerve impulse neuronal action potential protein metabolic process calcium-mediated signaling pyrimidine nucleobase biosynthetic process second-messenger-mediated signaling sexual reproduction neurogenesis cellular process involved in reproduction in multicellular organism reproductive process regulation of signaling signaling negative regulation of signaling cell projection organization hemopoiesis lymphocyte differentiation cell differentiation protein catabolic process t cell differentiation positive regulation of cell growth regulation of cell migration positive regulation of cell migration regulation of actin filament length regulation of actin filament polymerization positive regulation of actin filament polymerization regulation of cellular metabolic process negative regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process regulation of cellular catabolic process negative regulation of cellular catabolic process positive regulation of cellular catabolic process positive regulation of protein-containing complex assembly regulation of cell projection organization positive regulation of cell projection organization regulation of protein modification process positive regulation of protein modification process ruffle organization regulation of myelination response to nutrient levels cellular response to extracellular stimulus cellular response to nutrient levels tor signaling activation of protein kinase activity activation of protein kinase b activity regulation of actin filament bundle assembly positive regulation of actin filament bundle assembly regulation of protein polymerization positive regulation of protein polymerization multicellular organismal process developmental process multicellular organism reproduction positive regulation of phosphoprotein phosphatase activity regulation of cellular component size response to insulin regulation of actin cytoskeleton organization regulation of actin filament-based process regulation of organelle organization calcineurin-nfat signaling cascade cellular response to stress multicellular organismal response to stress positive regulation of kinase activity cellular response to amino acid starvation regulation of cellular amide metabolic process positive regulation of cellular amide metabolic process cellular nitrogen compound metabolic process cardiocyte differentiation multicellular organism growth regulation of dephosphorylation regulation of protein dephosphorylation positive regulation of dephosphorylation positive regulation of protein dephosphorylation intracellular signal transduction multicellular organismal signaling cd4-positive, alpha-beta t cell activation protein modification process response to decreased oxygen levels cellular response to decreased oxygen levels torc1 signaling growth regulation of growth regulation of locomotion positive regulation of locomotion gliogenesis t-helper 1 type immune response t-helper cell differentiation t cell activation response to chemical regulation of phosphorylation positive regulation of phosphorylation regulation of membrane potential response to starvation muscle cell differentiation regulation of circadian rhythm regulation of apoptotic process negative regulation of apoptotic process regulation of programmed cell death negative regulation of programmed cell death positive regulation of catalytic activity regulation of gtpase activity macromolecule metabolic process response to amino acid response to leucine regulation of protein-containing complex assembly anoikis cd4-positive, alpha-beta t cell differentiation positive t cell selection cd4-positive or cd8-positive, alpha-beta t cell lineage commitment cd4-positive, alpha-beta t cell lineage commitment macromolecule modification response to peptide hormone regulation of pentose-phosphate shunt regulation of generation of precursor metabolites and energy regulation of carbohydrate catabolic process regulation of cellular carbohydrate catabolic process regulation of kinase activity regulation of phosphoprotein phosphatase activity regulation of cellular component biogenesis positive regulation of cellular component biogenesis positive regulation of molecular function cellular metabolic process primary metabolic process cellular catabolic process cellular biosynthetic process cellular nitrogen compound biosynthetic process small molecule metabolic process t cell selection t-helper 1 cell differentiation cell fate commitment leukocyte activation regulation of cell differentiation positive regulation of cell differentiation regulation of myeloid cell differentiation regulation of osteoclast differentiation regulation of glial cell differentiation positive regulation of glial cell differentiation positive regulation of translation negative regulation of cell size positive regulation of glycolytic process positive regulation of lipid metabolic process regulation of protein kinase activity positive regulation of protein kinase activity positive regulation of transcription, dna-templated positive regulation of carbohydrate metabolic process positive regulation of growth positive regulation of nucleobase-containing compound metabolic process positive regulation of phosphate metabolic process positive regulation of transcription by rna polymerase i positive regulation of transcription by rna polymerase iii positive regulation of translational initiation positive regulation of nucleotide metabolic process nucleobase biosynthetic process heterocycle metabolic process alpha-beta t cell activation alpha-beta t cell differentiation lymphocyte activation protein autophosphorylation positive regulation of lipid biosynthetic process regulation of lipid biosynthetic process inositol phosphate-mediated signaling response to pain behavioral response to pain cell development rhythmic process animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process hematopoietic or lymphoid organ development regulation of response to stimulus positive regulation of response to stimulus negative regulation of response to stimulus developmental growth multicellular organismal reproductive process oligodendrocyte differentiation regulation of oligodendrocyte differentiation positive regulation of oligodendrocyte differentiation system development cardiac muscle tissue development anatomical structure development cellular developmental process regulation of peptidyl-tyrosine phosphorylation positive regulation of peptidyl-tyrosine phosphorylation regulation of neurogenesis positive regulation of neurogenesis regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process regulation of behavior regulation of calcium-mediated signaling negative regulation of calcium-mediated signaling nervous system process multicellular organismal movement musculoskeletal movement voluntary musculoskeletal movement response to stimulus neuromuscular process positive regulation of developmental process regulation of cellular component organization positive regulation of cellular component organization striated muscle cell differentiation regulation of muscle cell differentiation positive regulation of muscle cell differentiation regulation of striated muscle cell differentiation positive regulation of striated muscle cell differentiation regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process localization regulation of multicellular organismal process positive regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process regulation of rna metabolic process positive regulation of rna metabolic process regulation of hydrolase activity regulation of transferase activity positive regulation of hydrolase activity positive regulation of transferase activity regulation of stress fiber assembly regulation of cytoskeleton organization positive regulation of cytoskeleton organization positive regulation of stress fiber assembly regulation of keratinocyte migration positive regulation of keratinocyte migration organelle localization nucleus localization cellular response to stimulus regulation of protein kinase b signaling regulation of nervous system development positive regulation of nervous system development muscle cell development cardiac cell development cardiac muscle cell differentiation cardiac muscle cell development nucleobase-containing small molecule metabolic process heart contraction cardiac muscle contraction regulation of macromolecule metabolic process regulation of cell development regulation of cell projection assembly muscle tissue development negative regulation of cell death regulation of wound healing muscle structure development process utilizing autophagic mechanism regulation of small molecule metabolic process positive regulation of small molecule metabolic process cellular response to chemical stress biological regulation regulation of biological quality regulation of molecular function response to oxygen levels regulation of calcineurin-nfat signaling cascade negative regulation of calcineurin-nfat signaling cascade cellular response to chemical stimulus cellular response to abiotic stimulus cellular response to acid chemical cellular response to amino acid stimulus cellular response to leucine cellular response to organic substance cellular response to organonitrogen compound cellular response to oxygen levels cellular response to hypoxia cellular response to osmotic stress cellular response to endogenous stimulus cellular response to external stimulus organic substance metabolic process cellular component organization or biogenesis circulatory system development pyrimidine-containing compound metabolic process pyrimidine-containing compound biosynthetic process regulation of primary metabolic process regulation of response to stress regulation of cellular response to stress lytic vacuole organization regulation of anatomical structure size positive regulation of wound healing regulation of membrane permeability calcineurin-mediated signaling cellular response to environmental stimulus regulation of calcineurin-mediated signaling negative regulation of calcineurin-mediated signaling regulation of actomyosin structure organization regulation of actin filament organization regulation of plasma membrane bounded cell projection assembly positive regulation of plasma membrane bounded cell projection assembly regulation of plasma membrane bounded cell projection organization plasma membrane bounded cell projection organization regulation of ncrna transcription regulation of cellular response to heat regulation of purine nucleotide metabolic process positive regulation of purine nucleotide metabolic process organic cyclic compound metabolic process organic cyclic compound biosynthetic process organonitrogen compound metabolic process organonitrogen compound catabolic process organonitrogen compound biosynthetic process organic substance catabolic process organic substance biosynthetic process response to peptide response to nitrogen compound cellular response to nitrogen compound response to oxygen-containing compound cellular response to oxygen-containing compound regulation of signal transduction by p53 class mediator regulation of transcription of nucleolar large rrna by rna polymerase i positive regulation of transcription of nucleolar large rrna by rna polymerase i regulation of nadp metabolic process regulation of leukocyte differentiation regulation of intracellular signal transduction negative regulation of intracellular signal transduction positive regulation of rna biosynthetic process regulation of lamellipodium organization positive regulation of lamellipodium organization regulation of supramolecular fiber organization positive regulation of supramolecular fiber organization regulation of response to wounding positive regulation of response to wounding mononuclear cell differentiation regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription regulation of atp metabolic process positive regulation of atp metabolic process regulation of wound healing, spreading of epidermal cells positive regulation of wound healing, spreading of epidermal cells regulation of hemopoiesis regulation of locomotor rhythm regulation of cytoplasmic translational initiation positive regulation of cytoplasmic translational initiation positive regulation of pentose-phosphate shunt cellular response to leucine starvation response to amino acid starvation regulation of multicellular organismal development regulation of cellular macromolecule biosynthetic process regulation of cell motility positive regulation of cell motility regulation of cytoplasmic translation regulation of rna biosynthetic process nucleotide binding rdna binding transcription cis-regulatory region binding cis-regulatory region sequence-specific dna binding rna polymerase iii cis-regulatory region sequence-specific dna binding rna polymerase iii type 1 promoter sequence-specific dna binding rna polymerase iii type 2 promoter sequence-specific dna binding rna polymerase iii type 3 promoter sequence-specific dna binding rna polymerase iii transcription regulatory region sequence-specific dna binding rna polymerase iii general transcription initiation factor binding transcription regulatory region nucleic acid binding tfiiic-class transcription factor complex binding nucleic acid binding dna binding double-stranded dna binding catalytic activity protein kinase activity protein serine/threonine kinase activity binding protein binding atp binding transcription factor binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding identical protein binding ribonucleoprotein complex binding ribosome binding ion binding anion binding sequence-specific dna binding protein-containing complex binding phosphoprotein binding 5s rdna binding organic cyclic compound binding carbohydrate derivative binding protein serine kinase activity catalytic activity, acting on a protein general transcription initiation factor binding nucleoside phosphate binding heterocyclic compound binding sequence-specific double-stranded dna binding golgi membrane lytic vacuole intracellular anatomical structure nucleus nuclear envelope nucleoplasm cytoplasm mitochondrion mitochondrial envelope mitochondrial outer membrane lysosome lysosomal membrane vacuole vacuolar membrane endoplasmic reticulum endoplasmic reticulum membrane golgi apparatus cytosol endomembrane system membrane nuclear body pml body outer membrane endocytic vesicle dendrite organelle membrane cytoplasmic vesicle torc1 complex torc2 complex mitochondrial membrane organelle envelope organelle outer membrane membrane-enclosed lumen envelope nuclear lumen vesicle organelle subcompartment protein-containing complex somatodendritic compartment tor complex nuclear outer membrane-endoplasmic reticulum membrane network cell projection neuron projection organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen phagocytic vesicle intracellular organelle lumen dendritic tree intracellular vesicle bounding membrane of organelle endoplasmic reticulum subcompartment lytic vacuole membrane cellular anatomical entity plasma membrane bounded cell projection intracellular protein-containing complex amino acids regulate mtorc1, and mtor signalling mtor signalling, and negative regulation of torc1 signaling amino acids regulate mtorc1, and torc2 complex mixed, incl. tor complex, and ribosomal protein s6 kinase activity tor complex, and tsc1-tsc2 complex tor complex, and tetratricopeptide repeat torc2 complex egfr tyrosine kinase inhibitor resistance endocrine resistance erbb signaling pathway hif-1 signaling pathway phospholipase d signaling pathway autophagy - other autophagy - animal mtor signaling pathway pi3k-akt signaling pathway ampk signaling pathway longevity regulating pathway longevity regulating pathway - multiple species cellular senescence apelin signaling pathway jak-stat signaling pathway th17 cell differentiation thermogenesis insulin signaling pathway thyroid hormone signaling pathway adipocytokine signaling pathway type ii diabetes mellitus insulin resistance growth hormone synthesis, secretion and action alzheimer disease amyotrophic lateral sclerosis huntington disease spinocerebellar ataxia shigellosis human cytomegalovirus infection human papillomavirus infection kaposi sarcoma-associated herpesvirus infection herpes simplex virus 1 infection human immunodeficiency virus 1 infection pathways in cancer proteoglycans in cancer micrornas in cancer colorectal cancer pancreatic cancer glioma prostate cancer acute myeloid leukemia breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer choline metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer pip3 activates akt signaling adaptive immune system signal transduction macroautophagy disease mtor signalling mtorc1-mediated signalling immune system signaling by vegf generic transcription pathway pi3k/akt signaling in cancer cellular responses to stress cellular response to heat stress hsf1-dependent transactivation transcriptional regulation by tp53 energy dependent regulation of mtor by lkb1-ampk costimulation by the cd28 family cd28 co-stimulation cd28 dependent pi3k/akt signaling vegfa-vegfr2 pathway vegfr2 mediated vascular permeability tp53 regulates metabolic genes regulation of tp53 activity diseases of signal transduction by growth factor receptors and second messengers constitutive signaling by akt1 e17k in cancer regulation of tp53 degradation regulation of tp53 expression and degradation pten regulation rna polymerase ii transcription gene expression (transcription) regulation of pten gene transcription cellular responses to stimuli intracellular signaling by second messengers signaling by receptor tyrosine kinases autophagy amino acids regulate mtorc1 cellular response to starvation amp-activated protein kinase signaling target of rapamycin signaling micrornas in cardiomyocyte hypertrophy type ii diabetes mellitus sterol regulatory element-binding proteins (srebp) signaling srebf and mir33 in cholesterol and lipid homeostasis rankl/rank signaling pathway thyroid stimulating hormone (tsh) signaling pathway leptin signaling pathway follicle stimulating hormone (fsh) signaling pathway prolactin signaling pathway alzheimers disease and mirna effects thymic stromal lymphopoietin (tslp) signaling pathway androgen receptor network in prostate cancer oncostatin m signaling pathway brain-derived neurotrophic factor (bdnf) signaling pathway alpha 6 beta 4 signaling pathway cardiac hypertrophic response extracellular vesicle-mediated signaling in recipient cells ovarian infertility mecp2 and associated rett syndrome wnt signaling pathway insulin signaling in adipocytes (normal condition) insulin signaling in adipocytes (diabetic condition) bdnf-trkb signaling pi3k-akt-mtor signaling pathway and therapeutic opportunities factors and pathways affecting insulin-like growth factor (igf1)-akt signaling atm signaling in development and disease  4-hydroxytamoxifen, dexamethasone, and retinoic acids regulation of p27 expression vegfa-vegfr2 signaling angiopoietin-like protein 8 regulatory pathway embryonic stem cell pluripotency pathways focal adhesion: pi3k-akt-mtor-signaling pathway mirna regulation of prostate cancer signaling pathways clear cell renal cell carcinoma pathways pi3k/akt/mtor - vitamin d3 signaling pi3k-akt signaling pathway somatroph axis (gh) and its relationship to dietary restriction and aging caloric restriction and aging breast cancer pathway pancreatic adenocarcinoma pathway thermogenesis egf/egfr signaling pathway regulatory circuits of the stat3 signaling pathway synaptic signaling pathways associated with autism spectrum disorder hippo signaling regulation pathways fragile x syndrome translation inhibitors in chronically activated pdgfra cells neurodegeneration with brain iron accumulation (nbia) subtypes pathway joubert syndrome gastrin signaling pathway head and neck squamous cell carcinoma thyroid hormones production and peripheral downstream signaling effects egfr tyrosine kinase inhibitor resistance insulin signaling regucalcin in proximal tubule epithelial kidney cells host-pathogen interaction of human coronaviruses - autophagy camkk2 pathway neuroinflammation autophagy p53 transcriptional gene network malignant pleural mesothelioma t-cell activation sars-cov-2 network map of sars-cov-2 signaling pathway sphingolipid metabolism in senescence alzheimers disease th17 cell differentiation pathway dyrk1a resolvin e1 and resolvin d1 signaling pathways promoting inflammation resolution modulation of pi3k-akt-mtor signaling by bioactive sphingolipids dravet syndrome clock-controlled autophagy in bone metabolism primary ovarian insufficiency interferon type i signaling pathways erbb signaling pathway lower respiratory tract disease monogenic disease organ system cancer cell type cancer autosomal dominant disease autosomal genetic disease benign neoplasm cell type benign neoplasm organ system benign neoplasm central nervous system benign neoplasm nervous system benign neoplasm tuberous sclerosis disease of cellular proliferation respiratory system disease cancer urinary system disease epilepsy syndrome kidney cancer carcinoma kidney benign neoplasm spinal cord disease central nervous system disease angiomyolipoma lymphangioleiomyomatosis urinary system cancer disease mouth disease renal cell carcinoma renal carcinoma subependymal glioma benign ependymoma subependymal giant cell astrocytoma kidney disease genetic disease disease of anatomical entity urinary system benign neoplasm gastrointestinal system disease kidney angiomyolipoma lung disease nervous system disease lip disease brain disease stomatitis tissues, cell types and enzyme sources animal reproductive system female reproductive system brain brain stem cervical carcinoma cell central nervous system cerebellum head digestive gland erythroleukemia cell gland blood cancer cell bone marrow cancer cell hindbrain metencephalon liver leukemia cell nervous system endocrine gland whole body viscus b-lymphocyte cell line urogenital system lytic vacuole intracellular nucleus nuclear envelope nucleoplasm cytoplasm lysosome lysosomal membrane vacuole vacuolar membrane cytosol phosphatidylinositol 3-kinase complex endomembrane system membrane extrinsic component of membrane endocytic vesicle organelle membrane cytoplasmic vesicle nucleotide-activated protein kinase complex torc1 complex torc2 complex organelle envelope membrane-enclosed lumen envelope nuclear lumen vesicle protein-containing complex tsc1-tsc2 complex tor complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen phagocytic vesicle transferase complex, transferring phosphorus-containing groups intracellular organelle lumen intracellular vesicle bounding membrane of organelle membrane protein complex lytic vacuole membrane cellular anatomical entity catalytic complex protein kinase complex phosphatase complex phosphatidylinositol phosphate phosphatase complex transferase complex pten phosphatase complex bone density anthropometric measurement erythrocyte indices body weights and measures body height body mass index waist circumference corneal topography hematological measurement bone measurement bone fracture related measurement mean corpuscular volume glycoprotein measurement intraocular pressure measurement sex hormone-binding globulin measurement hormone measurement eye measurement protein measurement appendicular lean mass erythrocyte measurement hair morphology measurement balding measurement heel bone mineral density reticulocyte measurement mean reticulocyte volume sex hormone measurement abnormality of body height cryptorchidism abnormality of male external genitalia abnormal testis morphology abnormal penis morphology hypospadias abnormality of the genital system abnormality of the urinary system phenotypic abnormality abnormality of the genitourinary system abnormality of head or neck abnormality of the mouth wide mouth abnormal lip morphology abnormal oral cavity morphology abnormal upper lip morphology open mouth thin upper lip vermilion thin vermilion border abnormality of the head abnormality of the fontanelles or cranial sutures abnormality of the anterior fontanelle large fontanelles abnormality of skull size macrocephaly wide anterior fontanel abnormality of the face abnormality of the philtrum abnormality of the forehead abnormality of the chin abnormal midface morphology abnormality of the orbital region hypertelorism smooth philtrum short chin long philtrum high forehead abnormality of the nose abnormal nasal bridge morphology abnormality of the eye strabismus abnormal eyelid morphology downslanted palpebral fissures abnormality of eye movement abnormal conjugate eye movement abnormality of the nervous system behavioral abnormality autistic behavior hyperactivity abnormal thorax morphology abnormality of the urethra abnormal external genitalia abnormality of the skeletal system abnormal skull morphology abnormality of the skin hyperpigmentation of the skin cafe-au-lait spot abnormality of skin pigmentation hypopigmentation of the skin abnormal palmar dermatoglyphics hemangioma hypermelanotic macule hypopigmented skin patches abnormality of the hand abnormality of finger intellectual disability seizure hypotonia global developmental delay hemiparesis abnormal corpus callosum morphology gait disturbance generalized hypotonia specific learning disability megalencephaly growth abnormality growth delay large for gestational age umbilical hernia protuberant abdomen diastasis recti abnormal umbilicus morphology abnormality of the integument abnormal hair morphology abnormality of the cardiovascular system abnormal foot morphology pes planus deep plantar creases abnormality of blood and blood-forming tissues abnormality of thrombocytes thrombocytopenia abnormality of metabolism/homeostasis hypoglycemia neonatal hypoglycemia abnormal facial shape frontal bossing morphological central nervous system abnormality malabsorption abnormal cerebral morphology abnormality of the respiratory system asthma abnormal cerebral ventricle morphology ventriculomegaly polymicrogyria neurological speech impairment generalized-onset seizure curly hair abnormal intestine morphology abnormality of neuronal migration focal impaired awareness seizure astrocytosis upper motor neuron dysfunction abnormal cerebral white matter morphology abnormal cortical gyration abnormal cerebral cortex morphology cortical dysplasia abnormality of the vasculature neoplasm abnormal calvaria morphology abnormality of the immune system decreased circulating iga level abnormal respiratory system physiology abnormality of limb bone morphology abnormality of the lower limb abnormality of the upper limb abnormality of the musculature short nose abdominal distention disproportionate short stature abnormality of connective tissue abnormal muscle tone abnormality of the abdominal wall hernia of the abdominal wall decreased circulating antibody level short stature abnormality of body weight increased body weight hemiplegia/hemiparesis lactose intolerance abnormal nasal morphology thoracic hypoplasia intestinal polyp depressed nasal bridge abnormality of humoral immunity abnormality of b cell physiology abnormal finger phalanx morphology abnormal hand morphology aplasia/hypoplasia involving bones of the hand deep palmar crease aplasia/hypoplasia of fingers aplasia/hypoplasia involving bones of the upper limbs focal white matter lesions hemimegalencephaly focal-onset seizure neoplasm of the gastrointestinal tract irregular hyperpigmentation abnormal dermatoglyphics abnormality of the palpebral fissures disproportionate short-limb short stature rhizomelia aplasia/hypoplasia involving the skeleton abnormal axial skeleton morphology short finger aplasia/hypoplasia of the phalanges of the hand short phalanx of finger aplasia/hypoplasia of the extremities limb undergrowth abnormal distal phalanx morphology of finger abnormal proximal phalanx morphology of the hand aplasia/hypoplasia of the distal phalanges of the hand aplasia/hypoplasia of the proximal phalanges of the hand short distal phalanx of finger short proximal phalanx of finger abnormality of the male genitalia abnormality of the palmar creases weakness due to upper motor neuron dysfunction abnormal immunoglobulin level abnormality of hair texture abdominal wall defect abnormality of the lower urinary tract abnormality of immune system physiology abnormal morphology of the abdominal musculature abnormal cerebral subcortex morphology abnormal glucose homeostasis abnormal blood glucose concentration abnormal cellular physiology abnormality of the gastrointestinal tract abnormality of skin morphology abnormality of skin adnexa morphology dialeptic seizure abnormal shape of the frontal region prominent forehead abnormal digit morphology abnormality of fontanelles abnormality of mouth size abnormality of mouth shape abnormality of upper lip vermillion localized skin lesion regional abnormality of skin abnormal central motor function abnormality of higher mental function abdominal symptom neoplasm by anatomical site midface retrusion abnormal muscle physiology abnormal skeletal muscle morphology abnormal skeletal morphology abnormal appendicular skeleton morphology abnormal platelet count abnormal platelet morphology short digit feeding difficulties abnormal reproductive system morphology abnormal homeostasis abnormal eye morphology abnormal eye physiology allergy abnormality of brain morphology abnormal nervous system physiology abnormal nervous system morphology perisylvian polymicrogyria morphological abnormality of the gastrointestinal tract macule neurodevelopmental delay neurodevelopmental abnormality abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology capillary malformation abnormal cellular phenotype abnormal ocular adnexa morphology abnormal lymphocyte physiology abnormal oral morphology abnormality of the ocular adnexa focal cortical dysplasia focal cortical dysplasia type ii abnormal male urethral meatus morphology abnormality of the musculoskeletal system abnormal leukocyte physiology abnormality of limbs abnormality of limb bone increased head circumference abnormal skin morphology of the palm aplasia/hypoplasia involving bones of the extremities abnormality of movement immunologic hypersensitivity cognitive impairment abnormal forebrain morphology displacement of the urethral meatus abnormal glial cell morphology abnormal astrocyte morphology vascular neoplasm hernia abnormal palm morphology abnormality of the plantar skin of foot abnormality of globe location slanting of the palpebral fissure abnormal circulating iga level abnormal frontal bone morphology acetylation atp-binding biological rhythms endoplasmic reticulum golgi apparatus kinase lysosome membrane microsome mitochondrion nucleus nucleotide-binding phosphoprotein repeat serine/threonine-protein kinase tpr repeat transferase epilepsy cytoplasm mitochondrion outer membrane fat domain phosphatidylinositol 3-/4-kinase, catalytic domain pik-related kinase, fat fatc domain fkbp12-rapamycin binding domain protein kinase-like domain superfamily armadillo-like helical tetratricopeptide-like helical domain superfamily pik-related kinase armadillo-type fold phosphatidylinositol 3/4-kinase, conserved site domain of unknown function duf3385, target of rapamycin protein serine/threonine-protein kinase tor, catalytic domain fkbp12-rapamycin binding domain superfamily phosphatidylinositol 3-/4-kinase, catalytic domain superfamily phosphoinositide 3-kinase, catalytic domain the fatc domain is named after frap, atm, trrap c-terminal (pmid:10782091). the solution structure of the fatc domain suggests it plays a role in redox-dependent structural and cellular stability (pmid:15772072). rapamycin binding domain domain of unknown function g1/s transition of mitotic cell cycle negative regulation of transcription by rna polymerase ii mapk cascade mitotic cell cycle urogenital system development ureteric bud development branching involved in ureteric bud morphogenesis response to hypoxia morphogenesis of a branching structure kidney development mesonephros development morphogenesis of an epithelium positive regulation of mesenchymal cell proliferation regulation of immune system process negative regulation of immune system process regulation of myeloid leukocyte differentiation negative regulation of myeloid leukocyte differentiation generation of precursor metabolites and energy energy reserve metabolic process chromatin organization chromatin remodeling regulation of transcription, dna-templated regulation of transcription by rna polymerase ii regulation of translation transport cellular ion homeostasis cellular metal ion homeostasis cellular iron ion homeostasis apoptotic process response to stress cellular response to dna damage stimulus organelle organization cell cycle cell communication signal transduction multicellular organism development metabolic process cell death positive regulation of cell population proliferation negative regulation of cell population proliferation response to radiation response to xenobiotic stimulus response to uv response to light stimulus response to abiotic stimulus anatomical structure morphogenesis animal organ morphogenesis tissue development regulation of biosynthetic process negative regulation of biosynthetic process positive regulation of biosynthetic process negative regulation of metabolic process positive regulation of metabolic process regulation of signal transduction positive regulation of signal transduction negative regulation of signal transduction cellular process response to organic substance response to ionizing radiation response to gamma radiation regulation of mesenchymal cell proliferation regulation of gene expression regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process negative regulation of macromolecule biosynthetic process regulation of cell cycle process positive regulation of macromolecule metabolic process negative regulation of macromolecule metabolic process post-transcriptional regulation of gene expression positive regulation of gene expression regulation of cell communication positive regulation of cell communication negative regulation of cell communication regulation of cell death positive regulation of cell death positive regulation of endopeptidase activity positive regulation of peptidase activity programmed cell death gas transport oxygen transport energy derivation by oxidation of organic compounds cellular component organization regulation of nucleobase-containing compound metabolic process regulation of metabolic process cellular homeostasis cell cycle process cellular component disassembly regulation of signaling signaling positive regulation of signaling negative regulation of signaling cellular cation homeostasis regulation of proteolysis regulation of cellular metabolic process negative regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process negative regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process regulation of telomere maintenance multicellular organismal process developmental process regulation of stress-activated mapk cascade negative regulation of stress-activated mapk cascade protein-containing complex disassembly protein-dna complex disassembly regulation of organelle organization regulation of chromosome organization cellular response to stress regulation of cellular amide metabolic process positive regulation of cellular amide metabolic process cellular response to uv tube morphogenesis tube development intracellular signal transduction response to decreased oxygen levels cellular response to decreased oxygen levels regulation of cell population proliferation response to chemical homeostatic process regulation of apoptotic process positive regulation of apoptotic process negative regulation of apoptotic process regulation of programmed cell death positive regulation of programmed cell death negative regulation of programmed cell death positive regulation of catalytic activity positive regulation of cysteine-type endopeptidase activity involved in apoptotic process regulation of cysteine-type endopeptidase activity involved in apoptotic process regulation of mapk cascade negative regulation of mapk cascade protein-containing complex organization regulation of dna methylation positive regulation of molecular function cellular metabolic process fibroblast apoptotic process cell cycle phase transition mitotic cell cycle phase transition cell cycle g1/s phase transition regulation of cell differentiation negative regulation of cell differentiation regulation of myeloid cell differentiation negative regulation of myeloid cell differentiation regulation of monocyte differentiation negative regulation of monocyte differentiation positive regulation of translation positive regulation of proteolysis negative regulation of transcription, dna-templated positive regulation of transcription, dna-templated negative regulation of nucleobase-containing compound metabolic process positive regulation of nucleobase-containing compound metabolic process positive regulation of transcription by rna polymerase ii cellular transition metal ion homeostasis regulation of fibroblast proliferation positive regulation of fibroblast proliferation negative regulation of fibroblast proliferation animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process regulation of response to stimulus positive regulation of response to stimulus negative regulation of response to stimulus tissue morphogenesis system development branching morphogenesis of an epithelial tube anatomical structure development chemical homeostasis regulation of epithelial cell proliferation positive regulation of epithelial cell proliferation regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process ion homeostasis response to stimulus regulation of dna metabolic process positive regulation of dna metabolic process negative regulation of developmental process positive regulation of developmental process regulation of cellular component organization regulation of nitrogen compound metabolic process negative regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process localization establishment of localization regulation of multicellular organismal process positive regulation of multicellular organismal process negative regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process regulation of rna metabolic process negative regulation of rna metabolic process positive regulation of rna metabolic process chromosome organization regulation of cell division regulation of hydrolase activity regulation of transferase activity positive regulation of hydrolase activity positive regulation of transferase activity cellular response to stimulus regulation of cell cycle negative regulation of cell division regulation of telomerase activity positive regulation of telomerase activity regulation of peptidase activity regulation of endopeptidase activity metal ion homeostasis iron ion homeostasis transition metal ion homeostasis cation homeostasis cellular chemical homeostasis regulation of macromolecule metabolic process epithelium development negative regulation of cell death epithelial tube morphogenesis ureteric bud morphogenesis kidney morphogenesis morphogenesis of a branching epithelium renal tubule development renal tubule morphogenesis biological regulation regulation of biological quality regulation of molecular function regulation of stress-activated protein kinase signaling cascade negative regulation of stress-activated protein kinase signaling cascade erk1 and erk2 cascade response to oxygen levels response to growth factor cellular response to chemical stimulus cellular response to abiotic stimulus cellular response to oxygen levels cellular response to hypoxia cellular response to xenobiotic stimulus cellular response to radiation cellular response to light stimulus protein-dna complex subunit organization cellular component organization or biogenesis renal system development nephron development nephron epithelium development nephron morphogenesis kidney epithelium development nephron tubule morphogenesis nephron tubule development nephron epithelium morphogenesis mesonephric epithelium development mesonephric tubule development mesonephric tubule morphogenesis regulation of primary metabolic process regulation of response to stress regulation of cellular response to stress regulation of metanephric cap mesenchymal cell proliferation positive regulation of metanephric cap mesenchymal cell proliferation regulation of kidney development positive regulation of kidney development inorganic ion homeostasis cellular response to environmental stimulus regulation of cell proliferation involved in kidney development positive regulation of cell proliferation involved in kidney development regulation of signal transduction by p53 class mediator positive regulation of signal transduction by p53 class mediator regulation of leukocyte differentiation negative regulation of leukocyte differentiation regulation of intrinsic apoptotic signaling pathway by p53 class mediator positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator regulation of intracellular signal transduction negative regulation of intracellular signal transduction positive regulation of intracellular signal transduction negative regulation of rna biosynthetic process positive regulation of rna biosynthetic process regulation of mirna transcription positive regulation of mirna transcription mitotic cell cycle process regulation of nucleic acid-templated transcription negative regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription regulation of hemopoiesis negative regulation of hemopoiesis regulation of somatic stem cell population maintenance positive regulation of dna methylation regulation of multicellular organismal development regulation of stem cell population maintenance regulation of cellular macromolecule biosynthetic process regulation of cysteine-type endopeptidase activity regulation of dna biosynthetic process positive regulation of dna biosynthetic process regulation of mirna metabolic process positive regulation of mirna metabolic process regulation of response to dna damage stimulus positive regulation of response to dna damage stimulus positive regulation of cysteine-type endopeptidase activity regulation of rna biosynthetic process regulation of apoptotic signaling pathway positive regulation of apoptotic signaling pathway regulation of intrinsic apoptotic signaling pathway positive regulation of intrinsic apoptotic signaling pathway transcription cis-regulatory region binding rna polymerase ii transcription regulatory region sequence-specific dna binding rna polymerase ii cis-regulatory region sequence-specific dna binding dna-binding transcription factor activity, rna polymerase ii-specific cis-regulatory region sequence-specific dna binding core promoter sequence-specific dna binding transcription regulatory region nucleic acid binding dna-binding transcription activator activity dna-binding transcription repressor activity transcription coregulator binding dna-binding transcription repressor activity, rna polymerase ii-specific dna-binding transcription activator activity, rna polymerase ii-specific nucleic acid binding dna binding double-stranded dna binding dna-binding transcription factor activity rna binding mrna binding binding protein binding transcription factor binding translation initiation factor binding sequence-specific dna binding protein-containing complex binding protein dimerization activity e-box binding eukaryotic initiation factor eif2 binding organic cyclic compound binding transcription regulator activity dna-binding transcription factor binding heterocyclic compound binding sequence-specific double-stranded dna binding chromatin intracellular anatomical structure nucleus nuclear envelope nucleoplasm transcription regulator complex chromosome nucleolus cytoplasm endoplasmic reticulum rough endoplasmic reticulum endomembrane system membrane integral component of membrane transcription repressor complex intrinsic component of membrane organelle envelope membrane-enclosed lumen envelope nuclear lumen protein-containing complex organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen nucleoplasmic reticulum intracellular organelle lumen myc-max complex rna polymerase ii transcription repressor complex rna polymerase ii transcription regulator complex cellular anatomical entity nuclear protein-containing complex mixed, incl. g1 phase, and g0 and early g1 mixed, incl. p53 dna-binding domain, and swib/mdm2 domain mixed, incl. myc amino-terminal region, and rtp801-like mapk signaling pathway erbb signaling pathway cell cycle pi3k-akt signaling pathway cellular senescence wnt signaling pathway tgf-beta signaling pathway hippo signaling pathway signaling pathways regulating pluripotency of stem cells jak-stat signaling pathway thyroid hormone signaling pathway salmonella infection hepatitis c hepatitis b human cytomegalovirus infection human t-cell leukemia virus 1 infection kaposi sarcoma-associated herpesvirus infection epstein-barr virus infection pathways in cancer transcriptional misregulation in cancer proteoglycans in cancer micrornas in cancer colorectal cancer endometrial cancer thyroid cancer bladder cancer chronic myeloid leukemia acute myeloid leukemia small cell lung cancer breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer developmental biology cytokine signaling in immune system transcription of e2f targets under negative control by dream complex g0 and early g1 signaling by notch signal transduction cell cycle disease immune system signaling by tgf-beta receptor complex signaling by wnt signaling by notch1 signaling by alk tcf dependent signaling in response to wnt formation of the beta-catenin:tcf transactivating complex notch1 intracellular domain regulates transcription generic transcription pathway transcriptional activity of smad2/smad3:smad4 heterotrimer smad2/smad3:smad4 heterotrimer regulates transcription cellular responses to stress signaling by notch1 pest domain mutants in cancer signaling by notch1 in cancer constitutive signaling by notch1 pest domain mutants signaling by notch1 hd+pest domain mutants in cancer constitutive signaling by notch1 hd+pest domain mutants metabolism of proteins binding of tcf/lef:ctnnb1 to target gene promoters signaling by interleukins mitotic g1 phase and g1/s transition diseases of signal transduction by growth factor receptors and second messengers mapk family signaling cascades mapk6/mapk4 signaling deubiquitination ub-specific processing proteases post-translational protein modification interleukin-4 and interleukin-13 signaling cyclin e associated events during g1/s transition g1/s transition s phase cell cycle, mitotic cyclin a:cdk2-associated events at s phase entry rna polymerase ii transcription gene expression (transcription) transcriptional regulation by the ap-2 (tfap2) family of transcription factors tfap2 (ap-2) family regulates transcription of cell cycle factors transcriptional regulation by runx3 esr-mediated signaling runx3 regulates wnt signaling cellular responses to stimuli signaling by nuclear receptors signaling by receptor tyrosine kinases signaling by tgfb family members estrogen-dependent gene expression transcriptional regulation of granulopoiesis cellular response to chemical stress keap1-nfe2l2 pathway nuclear events mediated by nfe2l2 regulation of nfe2l2 gene expression il-5 signaling pathway mirna regulation of dna damage response mirnas involved in dna damage response tp53 network cell cycle integrated cancer pathway thyroid stimulating hormone (tsh) signaling pathway prolactin signaling pathway il-7 signaling pathway neural crest differentiation thymic stromal lymphopoietin (tslp) signaling pathway metastatic brain tumor androgen receptor network in prostate cancer b cell receptor signaling pathway gastric cancer network 2 spinal cord injury retinoblastoma gene in cancer apoptosis aryl hydrocarbon receptor pathway interleukin-1 (il-1) structural pathway mammary gland development pathway - embryonic development (stage 1 of 4) mammary gland development pathway - puberty (stage 2 of 4) mammary gland development pathway - involution (stage 4 of 4) mammary gland development pathway - pregnancy and lactation (stage 3 of 4) bladder cancer hair follicle development: organogenesis - part 2 of 3 ectoderm differentiation vitamin d receptor pathway ppar-alpha pathway nuclear receptors meta-pathway let-7 inhibition of es cell reprogramming rac1/pak1/p38/mmp2 pathway wnt signaling pathway imatinib and chronic myeloid leukemia hepatitis c and hepatocellular carcinoma pathways affected in adenoid cystic carcinoma wnt/beta-catenin signaling pathway in leukemia tgf-beta signaling pathway physico-chemical features and toxicity-associated pathways mapk signaling pathway regulation of apoptosis by parathyroid hormone-related protein wnt signaling pathway and pluripotency p38 mapk signaling pathway pi3k/akt/mtor - vitamin d3 signaling endometrial cancer pi3k-akt signaling pathway chromosomal and microsatellite instability in colorectal cancer  lncrna in canonical wnt signaling and colorectal cancer breast cancer pathway wnt signaling ncrnas involved in wnt signaling in hepatocellular carcinoma g1 to s cell cycle control hippo-merlin signaling dysregulation small cell lung cancer gastrin signaling pathway hepatitis b infection egfr tyrosine kinase inhibitor resistance il-2 signaling pathway 3q29 copy number variation syndrome mapk pathway in congenital thyroid cancer 7q11.23 copy number variation syndrome malignant pleural mesothelioma interactions of natural killer cells in pancreatic cancer ccl18 signaling pathway neurogenesis regulation in the olfactory epithelium ckap4 signaling pathway map notch signaling pathway erbb signaling pathway dna damage response dna damage response (only atm dependent) respiratory system cancer organ system cancer cell type cancer diffuse large b-cell lymphoma lymphoma non-hodgkin lymphoma lymphatic system cancer immune system cancer thoracic disease pharynx cancer hepatobiliary system cancer intestinal cancer stomach cancer ovarian disease sarcoma female reproductive organ cancer disease of cellular proliferation reproductive system disease respiratory system disease breast cancer cancer endocrine gland cancer pancreatic cancer tumor of exocrine pancreas reproductive organ cancer malignant ovarian surface epithelial-stromal neoplasm ovary epithelial cancer colon cancer gonadal disease female reproductive system disease ovarian cancer hematologic cancer pancreas disease endocrine system disease immune system disease germ cell cancer carcinoma germ cell and embryonal cancer hepatobiliary disease gastrointestinal system cancer teratoma breast disease liver cancer disease ovarian carcinoma liver disease pancreatic carcinoma thoracic cancer intestinal disease colonic disease large intestine cancer hepatocellular carcinoma liver carcinoma disease of anatomical entity mature b-cell neoplasm b-cell lymphoma hematopoietic system disease lymphatic system disease stomach disease gastrointestinal system disease burkitt lymphoma colorectal cancer nasopharynx carcinoma nasopharyngeal disease upper respiratory tract disease tissues, cell types and enzyme sources intestinal cell line hek-293 cell animal kidney cell line male reproductive gland reproductive system male reproductive system female reproductive system blood adenocarcinoma cell line embryonic structure cervical carcinoma cell colonic cell line female reproductive gland organism form carcinoma cell line cos-7 cell embryo connective tissue erythroleukemia cell fetus fibroblast gland gonad hela cell hematopoietic system hematopoietic cell blood cancer cell bone marrow cancer cell embryonic cell line leukemia cell line lymphoblastic leukemia cell line lymphocytic leukemia cell line leukocyte lymphoid tissue lymphoblast lymphoblastoid cell line lymphocyte colonic cancer cell line hematopoietic cell line myeloid leukemia cell placenta lymphoid cell epithelial cell line somatic cell leukemia cell testis uterine cervix uterus endocrine gland whole body rectal cell line b-lymphoblast rectal cancer cell line acute myeloid leukemia cell colorectal cell line colorectal cancer cell colorectal cancer cell line colonic adenocarcinoma cell line colorectal adenocarcinoma cell line cervical cell line cervical cancer cell line colo-320 cell acute lymphoblastic leukemia cell line hek-293t cell vas efferens cell property t-lymphoblastic leukemia cell line embryonic kidney cell line urogenital system internal male genital organ internal female genital organ cos cell acute promyelocytic leukemia cell embryonic fibroblast cervical adenocarcinoma cell line immune system chromatin intracellular nucleus nuclear envelope nucleoplasm chromosome nucleolus cytoplasm endoplasmic reticulum rough endoplasmic reticulum cytoskeleton endomembrane system myb complex organelle envelope membrane-enclosed lumen envelope nuclear lumen protein-containing complex organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen nucleoplasmic reticulum tubulin complex intracellular organelle lumen cellular anatomical entity sign or symptom pain abnormal morphology of female internal genitalia abnormality of the genital system phenotypic abnormality abnormality of the genitourinary system abnormality of the ovary abnormality of head or neck abnormality of the mouth abnormal oral cavity morphology abnormality of the head abnormality of the face abnormal internal genitalia abnormality of the liver abnormality of the cardiovascular system abnormality of the pancreas abnormality of the spleen abnormality of blood and blood-forming tissues abnormal leukocyte morphology lymphopenia abnormal bleeding abnormality of metabolism/homeostasis abnormality of the abdominal organs nausea and vomiting abdominal pain hyperuricemia azotemia gastrointestinal hemorrhage abnormal intestine morphology abnormality of the vasculature neoplasm lymphoma abnormality of the immune system immunodeficiency abnormal lymph node morphology abnormal t cell morphology abnormal lymphocyte morphology abnormal circulating nitrogen compound concentration hematological neoplasm gastrointestinal obstruction intestinal obstruction t lymphocytopenia decreased proportion of cd4-positive helper t cells abnormality of bone marrow cell morphology abnormality of the female genitalia abnormal circulating nucleobase concentration abnormality of immune system physiology abnormal cellular immune system morphology abnormality of the gastrointestinal tract abnormal cardiovascular system physiology abnormality of blood circulation internal hemorrhage abdominal symptom neoplasm by anatomical site abnormal t cell count abnormal leukocyte count abnormal reproductive system morphology abnormal enzyme/coenzyme activity pain non-hodgkin lymphoma morphological abnormality of the gastrointestinal tract functional abnormality of the gastrointestinal tract abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology constitutional symptom increased circulating lactate dehydrogenase concentration abnormal t cell subset distribution burkitt lymphoma abnormal proportion of cd4-positive t cells abnormal oral morphology abnormal circulating metabolite concentration decreased proportion of cd4-positive t cells abnormal immune system morphology abnormal lymphocyte count abnormal lactate dehydrogenase level neoplasm of the oral cavity abnormality of the lymphatic system abnormal proportion of cd4-positive helper t cells acetylation activator alternative splicing chromosomal rearrangement dna-binding glycoprotein nucleus phosphoprotein proto-oncogene transcription transcription regulation ubl conjugation isopeptide bond myc amino-terminal region transcription regulator myc leucine zipper, myc myc-type, basic helix-loop-helix (bhlh) domain transcription regulator myc, n-terminal helix-loop-helix dna-binding domain superfamily helix loop helix domain mapk cascade regulation of endothelial cell proliferation positive regulation of endothelial cell proliferation cell communication signal transduction small gtpase mediated signal transduction ras protein signal transduction positive regulation of cell population proliferation cellular process signaling intracellular signal transduction regulation of cell population proliferation positive regulation of biological process positive regulation of cellular process regulation of epithelial cell proliferation positive regulation of epithelial cell proliferation regulation of biological process regulation of cellular process response to stimulus cellular response to stimulus biological regulation nucleotide binding catalytic activity gtpase activity g protein activity binding gtp binding pyrophosphatase activity hydrolase activity hydrolase activity, acting on acid anhydrides hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides purine nucleotide binding nucleoside-triphosphatase activity guanyl nucleotide binding gdp binding ribonucleotide binding purine ribonucleotide binding guanyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding ion binding anion binding protein-containing complex binding organic cyclic compound binding carbohydrate derivative binding molecular function regulator activity nucleoside phosphate binding heterocyclic compound binding golgi membrane extracellular region extracellular space intracellular anatomical structure cytoplasm endoplasmic reticulum endoplasmic reticulum membrane golgi apparatus cytosol plasma membrane endomembrane system vesicle membrane membrane secretory granule cytoplasmic vesicle membrane secretory granule membrane organelle membrane cytoplasmic vesicle vesicle organelle subcompartment nuclear outer membrane-endoplasmic reticulum membrane network organelle membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle extracellular membrane-bounded organelle extracellular exosome tertiary granule tertiary granule membrane cell periphery intracellular vesicle bounding membrane of organelle endoplasmic reticulum subcompartment secretory vesicle cellular anatomical entity extracellular vesicle mixed, incl. small gtpase, ras-type, and ras-like guanine nucleotide exchange factor, n-terminal mixed, incl. signalling to erks, and ras gtpase-activating protein mixed, incl. inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and ras gtpase-activating protein mixed, incl. inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and cardiofaciocutaneous syndrome inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and cardiofaciocutaneous syndrome negative feedback regulation of mapk pathway, and ras gtpase cycle mutants keratoacanthoma, and vulvar melanoma egfr tyrosine kinase inhibitor resistance endocrine resistance mapk signaling pathway erbb signaling pathway ras signaling pathway rap1 signaling pathway chemokine signaling pathway foxo signaling pathway sphingolipid signaling pathway phospholipase d signaling pathway mitophagy - animal autophagy - animal mtor signaling pathway pi3k-akt signaling pathway apoptosis longevity regulating pathway longevity regulating pathway - multiple species cellular senescence axon guidance vegf signaling pathway apelin signaling pathway gap junction signaling pathways regulating pluripotency of stem cells c-type lectin receptor signaling pathway natural killer cell mediated cytotoxicity t cell receptor signaling pathway b cell receptor signaling pathway fc epsilon ri signaling pathway thermogenesis long-term potentiation neurotrophin signaling pathway cholinergic synapse serotonergic synapse long-term depression regulation of actin cytoskeleton insulin signaling pathway gnrh signaling pathway estrogen signaling pathway melanogenesis prolactin signaling pathway thyroid hormone signaling pathway oxytocin signaling pathway relaxin signaling pathway gnrh secretion age-rage signaling pathway in diabetic complications growth hormone synthesis, secretion and action alzheimer disease alcoholism hepatitis c hepatitis b human cytomegalovirus infection human papillomavirus infection human t-cell leukemia virus 1 infection kaposi sarcoma-associated herpesvirus infection human immunodeficiency virus 1 infection pathways in cancer viral carcinogenesis proteoglycans in cancer micrornas in cancer colorectal cancer renal cell carcinoma endometrial cancer glioma prostate cancer thyroid cancer melanoma bladder cancer chronic myeloid leukemia acute myeloid leukemia non-small cell lung cancer breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer choline metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer hemostasis neurotransmitter receptors and postsynaptic signal transmission transmission across chemical synapses neuronal system irs-mediated signalling sos-mediated signalling downstream signaling events of b cell receptor (bcr) activation of ras in b cells signaling by fgfr in disease signaling by erbb2 signaling by erbb2 in cancer constitutive signaling by ligand-responsive egfr cancer variants signaling by erbb4 shc1 events in erbb2 signaling shc1 events in erbb4 signaling developmental biology cytokine signaling in immune system adaptive immune system signaling by scf-kit signal transduction disease signaling by egfr in cancer signaling by ntrks signalling to ras innate immune system immune system p38mapk events signaling by egfr grb2 events in egfr signaling shc1 events in egfr signaling downstream signal transduction signaling by pdgf signaling by ntrk1 (trka) signalling to erks signaling by fgfr signaling by vegf grb2 events in erbb2 signaling cell surface interactions at the vascular wall tie2 signaling dap12 interactions egfr transactivation by gastrin signaling by type 1 insulin-like growth factor 1 receptor (igf1r) dap12 signaling igf1r signaling cascade irs-related events triggered by igf1r shc-related events triggered by igf1r fc epsilon receptor (fceri) signaling fceri mediated mapk activation signaling by gpcr ncam signaling for neurite out-growth gpcr downstream signalling g alpha (q) signalling events axon guidance post nmda receptor activation events vegfa-vegfr2 pathway creb1 phosphorylation through nmda receptor-mediated activation of ras signaling activation of nmda receptors and postsynaptic events ras activation upon ca2+ influx through nmda receptor vegfr2 mediated cell proliferation c-type lectin receptors (clrs) cd209 (dc-sign) signaling constitutive signaling by egfrviii signaling by egfrviii in cancer signaling by ligand-responsive egfr variants in cancer downstream signaling of activated fgfr1 shc-mediated cascade:fgfr1 frs-mediated fgfr1 signaling downstream signaling of activated fgfr2 shc-mediated cascade:fgfr2 frs-mediated fgfr2 signaling shc-mediated cascade:fgfr3 frs-mediated fgfr3 signaling downstream signaling of activated fgfr3 frs-mediated fgfr4 signaling downstream signaling of activated fgfr4 shc-mediated cascade:fgfr4 signaling by fgfr1 signaling by fgfr2 signaling by fgfr3 signaling by fgfr4 signaling by fgfr2 in disease signaling by fgfr4 in disease signaling by fgfr1 in disease signaling by fgfr3 in disease regulation of ras by gaps diseases of signal transduction by growth factor receptors and second messengers raf activation raf/map kinase cascade map2k and mapk activation negative regulation of mapk pathway mapk family signaling cascades mapk1/mapk3 signaling neutrophil degranulation signaling by moderate kinase activity braf mutants signaling by high-kinase activity braf mutants signaling by ras mutants signaling by braf and raf1 fusions ras signaling downstream of nf1 loss-of-function variants paradoxical activation of raf signaling by kinase inactive braf oncogenic mapk signaling signaling by met insulin receptor signalling cascade signaling by insulin receptor gastrin-creb signalling pathway via pkc and mapk signaling by ptk6 ptk6 regulates rho gtpases, ras gtpase and map kinases met activates ras signaling esr-mediated signaling signaling by ntrk2 (trkb) signaling by erythropoietin signaling by non-receptor tyrosine kinases signaling by nuclear receptors signaling by receptor tyrosine kinases extra-nuclear estrogen signaling activated ntrk2 signals through ras erythropoietin activates ras activated ntrk2 signals through frs2 and frs3 signaling by ntrk3 (trkc) activated ntrk3 signals through ras flt3 signaling constitutive signaling by overexpressed erbb2 estrogen-stimulated signaling through prkcz ras processing ras gtpase cycle mutants signaling downstream of ras mutants signaling by raf1 mutants signaling by erbb2 kd mutants signaling by erbb2 ecd mutants signaling by erbb2 tmd/jmd mutants signaling by kit in disease signaling by phosphorylated juxtamembrane, extracellular and kinase domain kit mutants signaling by pdgfr in disease signaling by pdgfra transmembrane, juxtamembrane and kinase domain mutants signaling by pdgfra extracellular domain mutants nervous system development flt3 signaling in disease signaling by flt3 fusion proteins signaling by flt3 itd and tkd mutants signaling by ras gap mutants signaling by ras gtpase mutants signaling by the b cell receptor (bcr) alzheimers disease and mirna effects glioblastoma signaling pathways rala downstream regulated genes tnf-alpha signaling pathway aryl hydrocarbon receptor pathway nanoparticle-mediated activation of receptor signaling bladder cancer extracellular vesicle-mediated signaling in recipient cells rac1/pak1/p38/mmp2 pathway g protein signaling pathways bdnf-trkb signaling mapk signaling pathway pi3k-akt-mtor signaling pathway and therapeutic opportunities chemokine signaling pathway focal adhesion: pi3k-akt-mtor-signaling pathway endometrial cancer pi3k-akt signaling pathway met in type 1 papillary renal cell carcinoma mapk cascade ras signaling non-small cell lung cancer breast cancer pathway inhibition of exosome biogenesis and secretion by manumycin a in crpc cells thermogenesis non-genomic actions of 1,25 dihydroxyvitamin d3 relationship between inflammation, cox-2 and egfr envelope proteins and their potential roles in edmd physiopathology synaptic signaling pathways associated with autism spectrum disorder hippo-merlin signaling dysregulation hepatitis b infection head and neck squamous cell carcinoma melanoma egfr tyrosine kinase inhibitor resistance kisspeptin/kisspeptin receptor system in the ovary regulation of actin cytoskeleton alzheimers disease erbb signaling pathway dna damage response (only atm dependent) serotonin receptor 2 and elk-srf/gata4 signaling sensory system disease lower respiratory tract disease monogenic disease juvenile myelomonocytic leukemia respiratory system cancer organ system cancer cell type cancer autosomal dominant disease autosomal genetic disease conjunctival nevus mucosal melanoma hypersensitivity reaction disease benign neoplasm organ system benign neoplasm sensory organ benign neoplasm nervous system benign neoplasm integumentary system cancer myeloid neoplasm melanoma in congenital melanocytic nevus physical disorder hepatobiliary system cancer rasopathy autoimmune lymphoproliferative syndrome type 4 epidermal nevus large congenital melanocytic nevus nodular malignant melanoma female reproductive organ cancer leukemia vulva cancer lung cancer disease of cellular proliferation reproductive system disease respiratory system disease integumentary system disease cancer melanoma reproductive organ cancer vulvar disease vulvar melanoma syndrome female reproductive system disease hematologic cancer immune system disease hypersensitivity reaction type iv disease adenocarcinoma carcinoma hepatobiliary disease gastrointestinal system cancer noonan syndrome skin disease disease bile duct disease skin cancer conjunctival disease bile duct cancer biliary tract cancer bile duct adenocarcinoma bile duct carcinoma cholangiocarcinoma bone marrow cancer bone marrow disease myelodysplastic/myeloproliferative neoplasm eye disease genetic disease acral lentiginous melanoma autoimmune lymphoproliferative syndrome disease of anatomical entity hematopoietic system disease gastrointestinal system disease lung disease nervous system disease myeloid leukemia skin melanoma acute myeloid leukemia biliary tract disease tissues, cell types and enzyme sources animal bone marrow brain central nervous system head bone cancer cell excretory gland fibrosarcoma cell gland lung cancer cell blood cancer cell kidney melanoma cell melanoma cell line sarcoma cell urinary tract leukemia cell skin cancer cell nervous system skeletal system whole body viscus fibroblastoma cell skeletal muscle cancer cell sk-mel cell sk-mel-28 cell sk-mel-30 cell sk-mel-5 cell a-375 cell urogenital system urinary system mewo cell golgi membrane extracellular region extracellular space intracellular cytoplasm endoplasmic reticulum endoplasmic reticulum membrane golgi apparatus cytosol endomembrane system vesicle membrane membrane secretory granule cytoplasmic vesicle membrane secretory granule membrane organelle membrane cytoplasmic vesicle vesicle organelle subcompartment nuclear outer membrane-endoplasmic reticulum membrane network organelle membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle extracellular membrane-bounded organelle extracellular exosome tertiary granule tertiary granule membrane intracellular vesicle bounding membrane of organelle endoplasmic reticulum subcompartment secretory vesicle cellular anatomical entity extracellular vesicle anthropometric measurement body weights and measures body height body mass index abnormality of body height abnormal morphology of female internal genitalia cryptorchidism abnormality of male external genitalia abnormal testis morphology hypogonadotropic hypogonadism abnormality of the kidney abnormality of the genital system abnormality of the urinary system abnormality of reproductive system physiology horseshoe kidney tall stature phenotypic abnormality abnormality of the genitourinary system abnormality of the uterus hypogonadism abnormality of head or neck abnormality of the mouth abnormal lip morphology abnormal oral cavity morphology abnormality of the dentition abnormal palate morphology abnormal upper lip morphology abnormal lower lip morphology thick lower lip vermilion open mouth high palate everted lower lip vermilion abnormality of the head hydrocephalus abnormality of skull size macrocephaly cranial asymmetry prominent occiput abnormality of the face abnormal mandible morphology epicanthus abnormality of the philtrum abnormality of the forehead full cheeks abnormal midface morphology round face abnormality of the orbital region hypertelorism facial asymmetry triangular face abnormality of the maxilla broad forehead long philtrum micrognathia high forehead abnormality of the outer ear abnormal location of ears posteriorly rotated ears abnormality of the inner ear hearing abnormality hearing impairment abnormality of the nose low-set, posteriorly rotated ears low-set ears abnormal pinna morphology thickened helices sensorineural hearing impairment narrow nasal ridge abnormal nasal bridge morphology abnormal morphology of the nasal alae wide nasal bridge abnormal nasal tip morphology broad nasal tip anteverted nares abnormality of the neck webbed neck short neck thickened nuchal skin fold cystic hygroma abnormality of the eye abnormal retinal morphology abnormal cornea morphology strabismus abnormal eyelid morphology downslanted palpebral fissures abnormality of eye movement abnormality of vision telecanthus ptosis proptosis abnormality iris morphology abnormal chorioretinal morphology abnormal eyebrow morphology abnormality of refraction myopia abnormal conjugate eye movement abnormal uvea morphology chorioretinal coloboma microphthalmia coloboma ophthalmoparesis abnormality of the ear ophthalmoplegia abnormality of the periorbital region abnormal choroid morphology iris coloboma periorbital fullness nystagmus abnormality of the nervous system behavioral abnormality delayed speech and language development abnormal thorax morphology abnormal sternum morphology pectus excavatum pectus carinatum abnormality of the breast abnormal external genitalia abnormal internal genitalia abnormality of the endocrine system abnormality of the thyroid gland precocious puberty abnormality of the skeletal system abnormality of the vertebral column abnormality of skeletal maturation abnormal skull morphology abnormal posterior cranial fossa morphology osteopenia abnormality of the skin hyperpigmentation of the skin cafe-au-lait spot edema pruritus melanocytic nevus abnormality of skin pigmentation multiple lentigines lymphedema hirsutism hypopigmentation of the skin hemangioma hypermelanotic macule cavernous hemangioma hypopigmented skin patches numerous nevi thickened skin abnormal fundus morphology abnormality of the hand brachydactyly abnormality of finger abnormalities of placenta or umbilical cord single umbilical artery abnormality of prenatal development or birth intellectual disability seizure hypotonia dysarthria global developmental delay mental deterioration hemiparesis motor delay abnormal corpus callosum morphology generalized hypotonia dandy-walker malformation abnormal nervous system electrophysiology reduced tendon reflexes abnormal cerebellum morphology cerebellar vermis hypoplasia cerebellar hypoplasia muscle weakness hyperreflexia megalencephaly plagiocephaly abnormal joint morphology joint hypermobility abnormality of the liver abnormal abdomen morphology subcutaneous nodule bilateral ptosis growth abnormality growth delay hemihypertrophy abnormal rib cage morphology overgrowth abnormality of the amniotic fluid polyhydramnios abnormality of the integument abnormal hair morphology alopecia abnormality of the cardiovascular system abnormal heart morphology abnormal myocardium morphology cardiomyopathy hypertrophic cardiomyopathy abnormal pulmonary valve morphology pulmonic stenosis abnormal heart valve morphology abnormal aortic morphology coarctation of aorta abnormality of the spleen splenomegaly abnormal foot morphology abnormality of toe abnormality of blood and blood-forming tissues abnormality of thrombocytes thrombocytopenia abnormality of neutrophils neutropenia pancytopenia abnormal erythrocyte morphology hemolytic anemia abnormal leukocyte morphology abnormal bleeding anemia leukemia abnormal granulocyte morphology abnormality of coagulation abnormality of metabolism/homeostasis abnormal scalp morphology autoimmune thrombocytopenia leukocytosis abnormal thrombosis abnormal facial shape deep philtrum frontal bossing morphological central nervous system abnormality abnormality of the abdominal organs abnormal cerebral morphology abnormality of the respiratory system abnormal lung morphology abnormal cerebral ventricle morphology ventriculomegaly porencephalic cyst abnormality of the spinal cord hypophosphatemia low posterior hairline neurological speech impairment intracranial hemorrhage dilated fourth ventricle recurrent respiratory infections coarse hair curly hair generalized hirsutism hepatomegaly abnormal intestine morphology abnormal large intestine morphology abnormality of neuronal migration chiari malformation abnormal cerebellar vermis morphology cerebellar cyst eeg abnormality infectious encephalitis meningocele cerebellar malformation language impairment upper motor neuron dysfunction abnormal cerebral white matter morphology cerebral calcification abnormal cerebral cortex morphology abnormal stomach morphology abnormality of the vasculature scoliosis increased susceptibility to fractures neoplasm lymphoma basal cell carcinoma gastrointestinal carcinoma abnormal calvaria morphology abnormality of the skull base abnormality of the immune system lymphadenopathy recurrent infections follicular hyperplasia decreased lymphocyte apoptosis abnormal lymph node morphology rickets delayed skeletal maturation kyphoscoliosis recurrent fractures kyphosis abnormality of limb bone morphology abnormality of the lower limb abnormality of the knee genu recurvatum abnormality of the upper limb abnormal morphology of the radius meningioma rhabdomyosarcoma melanoma bladder carcinoma thyroid carcinoma uterine leiomyosarcoma papillary thyroid carcinoma abnormal cerebrospinal fluid morphology autoimmunity abnormal forearm morphology radioulnar synostosis aplasia/hypoplasia involving the central nervous system abnormality of the musculature hyperphosphaturia abnormality of urine homeostasis abnormal blood ion concentration short nose visceromegaly abnormality of the cervical spine abnormal bone structure syringomyelia vertebral segmentation defect abnormal vertebral morphology nevus abnormal muscle tone deviation of finger abnormal 5th finger morphology clinodactyly of the 5th finger abnormality of the abdominal wall short stature abnormal anterior eye segment morphology abnormal posterior eye segment morphology abnormal lymphocyte morphology abnormality of bone mineral density reduced bone mineral density hemiplegia/hemiparesis neoplasm of the nervous system hematological neoplasm abnormal nipple morphology abnormality of the pulmonary artery pulmonary artery stenosis biparietal narrowing abnormal cheek morphology long eyebrows hypophosphatemic rickets abnormality of the pulmonary vasculature venous thrombosis abnormal nasal morphology depressed nasal bridge abnormal nostril morphology abnormality of humoral immunity abnormality of b cell physiology enlarged posterior fossa lymphoproliferative disorder abnormality of bone marrow cell morphology renal cell carcinoma congenital giant melanocytic nevus numerous congenital melanocytic nevi joint hyperflexibility abnormal hand morphology abnormality of dental morphology wide intermamillary distance hereditary nonpolyposis colorectal carcinoma follicular thyroid carcinoma transitional cell carcinoma of the bladder malignant gastrointestinal tract tumors neoplasm of the stomach aplasia/hypoplasia of the cerebellar vermis cranial nerve paralysis intellectual disability, borderline hemimegalencephaly aplasia/hypoplasia of the cerebellum aplasia/hypoplasia of the cerebrum aplasia/hypoplasia of the corpus callosum abnormal choroid plexus morphology neoplasm of the gastrointestinal tract neoplasm of the genitourinary tract irregular hyperpigmentation generalized hyperpigmentation abnormal dermatoglyphics abnormality of retinal pigmentation corneal opacity abnormality of the palpebral fissures aplasia/hypoplasia affecting the eye ichthyosis neoplasm of the skin sparse hair puberty and gonadal disorders renal hypoplasia/aplasia feeding difficulties in infancy aplasia/hypoplasia involving the skeleton aplasia/hypoplasia involving bones of the skull aplasia/hypoplasia of the mandible abnormal axial skeleton morphology aplasia/hypoplasia affecting bones of the axial skeleton deviation of the 5th finger deviation of the hand or of fingers of the hand abnormality of the hairline adenoma sebaceum bladder neoplasm renal neoplasm neoplasm of striated muscle abnormality of upper limb joint aplasia/hypoplasia of the abdominal wall musculature abnormality of the female genitalia abnormality of the male genitalia hyperextensibility of the knee weakness due to upper motor neuron dysfunction hamartoma intracranial cystic lesion fibroma angiofibromas abnormal meningeal morphology abnormality of the curvature of the vertebral column abnormal immunoglobulin level increased circulating antibody level abnormality of hair texture abnormal hair pattern abnormality of the premaxilla prominence of the premaxilla ectopic calcification uterine neoplasm urinary tract neoplasm genital neoplasm nevus sebaceous epidermal nevus linear nevus sebaceous abnormality of the umbilical cord abnormality of the upper urinary tract abnormal external nose morphology abnormal fetal cardiovascular morphology abnormal fourth ventricle morphology abnormal myeloid leukocyte morphology abnormality of immune system physiology abnormal cellular immune system morphology abnormal morphology of the abdominal musculature abnormal cerebral subcortex morphology abnormal systemic arterial morphology abnormal cellular physiology abnormality of the gastrointestinal tract abnormal cardiovascular system physiology abnormality of blood circulation internal hemorrhage abnormality of fluid regulation abnormal helix morphology abnormality of dental structure abnormality of dental color abnormal nasal dorsum morphology abnormality of skin morphology abnormality of skin physiology abnormality of skin adnexa morphology abnormal shape of the occiput abnormal shape of the frontal region prominent forehead abnormality of the urinary system physiology abnormal hindbrain morphology abnormal metencephalon morphology abnormal digit morphology abnormal long bone morphology abnormality of mouth shape localized skin lesion regional abnormality of skin congenital abnormal hair pattern abnormal hair quantity epidermal thickening morphological abnormality of the vestibule of the inner ear morphological abnormality of the semicircular canal aplasia of the semicircular canal functional abnormality of the inner ear morphological abnormality of the inner ear abnormal umbilical cord blood vessel morphology fetal ultrasound soft marker abnormal central motor function abnormality of higher mental function unusual cns infection abdominal symptom arrhythmia abnormality of joint mobility abnormal thyroid morphology neoplasm by histology neoplasm by anatomical site abnormality of facial soft tissue midface retrusion abnormal muscle physiology abnormal skeletal muscle morphology abnormal facial skeleton morphology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology abnormal bone ossification abnormal platelet function abnormal platelet count abnormal platelet morphology abnormal leukocyte count anemia due to reduced life span of red cells short digit respiratory tract infection feeding difficulties abnormal neutrophil count cutaneous melanoma abnormal monocyte morphology abnormality of multiple cell lineages in the bone marrow juvenile myelomonocytic leukemia abnormal renal morphology abnormal reproductive system morphology abnormal respiratory system morphology abnormal occipital bone morphology abnormal monocyte count monocytosis fibrous tissue neoplasm myeloid leukemia abnormal homeostasis abnormal eye morphology abnormal eye physiology abnormality of brain morphology thick vermilion border eclabion abnormal involuntary eye movements abnormal urinary electrolyte concentration abnormal urine phosphate concentration abnormal nervous system physiology abnormal nervous system morphology morphological abnormality of the gastrointestinal tract macule papilloma neurodevelopmental delay neurodevelopmental abnormality abnormal vascular morphology abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology abnormal cellular phenotype abnormal spleen morphology nevus spilus fetal neck anomaly abnormal neck morphology clinodactyly abnormality of the posterior hairline abnormality of central nervous system electrophysiology soft tissue sarcoma abnormal ocular adnexa morphology abnormality of cardiovascular system morphology central nervous system cyst abnormal jaw morphology abnormal lymphocyte apoptosis abnormality of cardiovascular system electrophysiology abnormal morphology of the great vessels abnormal pulmonary artery morphology abnormal breast morphology abnormal uterus morphology abnormal lymphocyte physiology abnormal heart valve physiology abnormal pulmonary valve physiology abnormal ear morphology abnormal ear physiology abnormal oral morphology abnormal reflex abnormal cranial nerve physiology abnormality of the ocular adnexa unusual infection keratosis pilaris unusual infection by anatomical site abnormal circulating metabolite concentration abnormal immune system morphology abnormal granulocyte count female reproductive system neoplasm abnormality of the musculoskeletal system abnormal blood vessel morphology thin corpus callosum abnormal leukocyte physiology fetal anomaly abnormal fetal morphology abnormal temporal lobe morphology closed neural tube defect abnormal joint physiology finger clinodactyly abnormality of limbs abnormality of limb bone abnormal upper limb bone morphology abnormal morphology of ulna abnormal forearm bone morphology abnormal lymphocyte count abnormal intermamillary distance increased head circumference non-medullary thyroid carcinoma neural tube defect early onset of sexual maturation neoplasm of the central nervous system abnormality of movement neoplasm of the thyroid gland abnormality of the scalp hair synostosis involving bones of the upper limbs synostosis of joints sarcoma leiomyosarcoma abnormality of lower limb joint abnormal blood phosphate concentration abnormal localization of kidney cognitive impairment abnormal forebrain morphology asymmetric growth spinal cord lesion neoplasm of the endocrine system enlarged thorax abnormal cerebral vascular morphology abnormal arachnoid mater morphology arachnoid cyst vascular neoplasm abnormality of the lymphatic system lymphocytosis neoplasm of the large intestine benign neoplasm of the central nervous system abnormality of globe location abnormality of globe size slanting of the palpebral fissure choroid plexus papilloma skin nodule abnormal liver morphology abnormal neural tube morphology abnormal frontal bone morphology acetylation golgi apparatus gtp-binding lipoprotein membrane methylation nucleotide-binding palmitate phosphoprotein prenylation proto-oncogene ubl conjugation cell membrane isopeptide bond small gtpase small gtp-binding protein domain small gtpase, ras-type p-loop containing nucleoside triphosphate hydrolase ras subfamily of ras small gtpases reproduction cell morphogenesis cell morphogenesis involved in differentiation response to acid chemical cell activation regulation of protein phosphorylation positive regulation of protein phosphorylation epithelial cell development immune system process immune system development leukocyte differentiation developmental process involved in reproduction system process regulation of transcription, dna-templated protein phosphorylation phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process apoptotic process chemotaxis response to stress cell communication signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway multicellular organism development nervous system development axonogenesis axon guidance sex differentiation aging sensory perception behavior learning or memory circadian rhythm chemosensory behavior metabolic process cell death negative regulation of cell population proliferation gonad development male gonad development response to temperature stimulus response to radiation response to xenobiotic stimulus response to water detection of external stimulus detection of abiotic stimulus response to external stimulus response to wounding response to mechanical stimulus response to abiotic stimulus anatomical structure morphogenesis response to endogenous stimulus tissue development regulation of biosynthetic process positive regulation of metabolic process regulation of signal transduction positive regulation of signal transduction cellular process response to extracellular stimulus response to organic substance response to inorganic substance regulation of gene expression regulation of macromolecule biosynthetic process positive regulation of phosphorus metabolic process positive regulation of macromolecule metabolic process programmed cell death involved in cell development regulation of cell communication positive regulation of cell communication regulation of cell death positive regulation of cell death regulation of neuron projection development positive regulation of neuron projection development programmed cell death regulation of phosphatidylinositol 3-kinase signaling positive regulation of phosphatidylinositol 3-kinase signaling cellular component organization detection of temperature stimulus phosphorylation peptidyl-tyrosine phosphorylation peptidyl-amino acid modification peptidyl-tyrosine modification regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process sensory perception of pain protein metabolic process cranial nerve development olfactory nerve development nerve development neurogenesis reproductive process regulation of anatomical structure morphogenesis regulation of signaling signaling positive regulation of signaling cell projection organization hemopoiesis lymphocyte differentiation cell differentiation neuron differentiation b cell differentiation epithelial cell differentiation neuron projection development regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process regulation of cell projection organization positive regulation of cell projection organization regulation of protein modification process positive regulation of protein modification process response to nutrient levels multicellular organismal process developmental process cellular component morphogenesis cell part morphogenesis multicellular organismal response to stress positive regulation of kinase activity response to nicotine protein modification process peptidyl-tyrosine autophosphorylation neurotrophin signaling pathway nerve growth factor signaling pathway locomotion b cell activation regulation of cell population proliferation response to chemical regulation of phosphorylation positive regulation of phosphorylation taxis mechanoreceptor differentiation regulation of apoptotic process negative regulation of apoptotic process regulation of programmed cell death positive regulation of programmed cell death negative regulation of programmed cell death positive regulation of catalytic activity regulation of gtpase activity macromolecule metabolic process regulation of mapk cascade positive regulation of mapk cascade macromolecule modification regulation of neuron apoptotic process negative regulation of neuron apoptotic process positive regulation of gtpase activity regulation of kinase activity regulation of cellular component biogenesis positive regulation of cellular component biogenesis positive regulation of molecular function cellular metabolic process primary metabolic process development of primary sexual characteristics leukocyte activation regulation of angiogenesis positive regulation of angiogenesis positive regulation of phosphate metabolic process development of primary male sexual characteristics regulation of ras protein signal transduction positive regulation of ras protein signal transduction lymphocyte activation male sex differentiation protein autophosphorylation neurotrophin trk receptor signaling pathway ephrin receptor signaling pathway response to pain behavioral response to pain cell development autonomic nervous system development sympathetic nervous system development rhythmic process animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process hematopoietic or lymphoid organ development regulation of response to stimulus positive regulation of response to stimulus reproductive structure development neuron development cell morphogenesis involved in neuron differentiation response to axon injury generation of neurons system development neuron projection morphogenesis anatomical structure development cell projection morphogenesis cellular developmental process regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process regulation of synapse structure or activity modulation of chemical synaptic transmission positive regulation of synaptic transmission regulation of synapse organization nervous system process cognition response to stimulus detection of stimulus involved in sensory perception sensory perception of temperature stimulus sensory perception of mechanical stimulus detection of temperature stimulus involved in sensory perception detection of temperature stimulus involved in sensory perception of pain detection of mechanical stimulus involved in sensory perception of pain detection of mechanical stimulus involved in sensory perception detection of mechanical stimulus regulation of small gtpase mediated signal transduction positive regulation of small gtpase mediated signal transduction regulation of dna-binding transcription factor activity positive regulation of dna-binding transcription factor activity positive regulation of nf-kappab transcription factor activity positive regulation of developmental process regulation of cellular component organization positive regulation of cellular component organization regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process regulation of multicellular organismal process positive regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process regulation of rna metabolic process regulation of hydrolase activity regulation of transferase activity positive regulation of hydrolase activity positive regulation of transferase activity neuron apoptotic process response to hydrostatic pressure response to electrical stimulus detection of stimulus cellular response to stimulus regulation of protein kinase b signaling regulation of nervous system development positive regulation of nervous system development regulation of synapse assembly positive regulation of synapse assembly regulation of synaptic transmission, glutamatergic positive regulation of synaptic transmission, glutamatergic sertoli cell differentiation sertoli cell development regulation of macromolecule metabolic process innervation axonogenesis involved in innervation epithelium development negative regulation of cell death behavioral response to chemical pain behavioral response to formalin induced pain reproductive system development axon development detection of stimulus involved in sensory perception of pain biological regulation regulation of biological quality regulation of molecular function regulation of erk1 and erk2 cascade positive regulation of erk1 and erk2 cascade response to growth factor cellular response to chemical stimulus neuron death cellular response to organic substance cellular response to nicotine cellular response to growth factor stimulus cellular response to endogenous stimulus organic substance metabolic process cellular component organization or biogenesis regulation of primary metabolic process neuron projection guidance regulation of trans-synaptic signaling regulation of plasma membrane bounded cell projection organization plasma membrane bounded cell projection organization plasma membrane bounded cell projection morphogenesis regulation of neuron death negative regulation of neuron death regulation of vasculature development organonitrogen compound metabolic process response to oxygen-containing compound regulation of cell junction assembly positive regulation of cell junction assembly regulation of intracellular signal transduction positive regulation of intracellular signal transduction mononuclear cell differentiation regulation of nucleic acid-templated transcription positive regulation of vasculature development response to nerve growth factor cellular response to nerve growth factor stimulus regulation of multicellular organismal development regulation of rna biosynthetic process nucleotide binding catalytic activity protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity transmembrane signaling receptor activity ephrin receptor activity gpi-linked ephrin receptor activity neurotrophin receptor activity signaling receptor binding cytokine receptor binding neurotrophin receptor binding neurotrophin p75 receptor binding binding protein binding atp binding nerve growth factor receptor activity kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding transmembrane receptor protein kinase activity growth factor binding enzyme binding kinase binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding signaling receptor activity identical protein binding protein homodimerization activity neurotrophin binding ion binding anion binding protein dimerization activity nerve growth factor binding molecular transducer activity organic cyclic compound binding carbohydrate derivative binding catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding intracellular anatomical structure cytoplasm endosome early endosome late endosome plasma membrane integral component of plasma membrane cell surface endosome membrane endomembrane system vesicle membrane membrane integral component of membrane axon dendrite cytoplasmic vesicle membrane organelle membrane intrinsic component of membrane intrinsic component of plasma membrane cytoplasmic vesicle early endosome membrane late endosome membrane vesicle protein-containing complex somatodendritic compartment cell projection neuron projection neuronal cell body organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle receptor complex cell body recycling endosome recycling endosome membrane cell periphery dendritic tree intracellular vesicle bounding membrane of organelle cellular anatomical entity plasma membrane bounded cell projection mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and tyrosine-protein kinase, catalytic domain mixed, incl. nerve growth factor signaling pathway, and glial cell line-derived neurotrophic factor family nerve growth factor-like, and nerve growth factor receptor activity mapk signaling pathway ras signaling pathway pi3k-akt signaling pathway apoptosis neurotrophin signaling pathway inflammatory mediator regulation of trp channels pathways in cancer transcriptional misregulation in cancer thyroid cancer central carbon metabolism in cancer signal transduction signaling by ntrks plc-gamma1 signalling signalling to ras prolonged erk activation events frs2-mediated activation arms-mediated activation retrograde neurotrophin signalling activation of trka receptors ngf-independant trka activation signaling by ntrk1 (trka) trka activation by ngf signalling to erks signalling to p38 via rit and rin pi3k/akt activation signalling to stat3 signaling by receptor tyrosine kinases brain-derived neurotrophic factor (bdnf) signaling pathway circadian rhythm genes mapk signaling pathway pi3k-akt signaling pathway ras signaling hippo signaling regulation pathways hippo-merlin signaling dysregulation malignant pleural mesothelioma network map of sars-cov-2 signaling pathway neurogenesis regulation in the olfactory epithelium monogenic disease hereditary sensory neuropathy organ system cancer autosomal dominant disease autosomal recessive disease autosomal genetic disease musculoskeletal system cancer hereditary sensory and autonomic neuropathy type 5 physical disorder hypohidrosis anhidrosis sweat gland disease disease of cellular proliferation integumentary system disease cancer musculoskeletal system disease connective tissue cancer syndrome fibrosarcoma pediatric fibrosarcoma skin disease disease peripheral nervous system disease genetic disease connective tissue disease disease of anatomical entity congenital fibrosarcoma nervous system disease neuropathy tissues, cell types and enzyme sources animal adrenal gland adrenal medulla alimentary canal reproductive system female reproductive system blood brain pheochromocytoma cell line central nervous system colon head gastrointestinal tract gland peripheral blood hematopoietic system intestine large intestine pc-12 cell uterus nervous system endocrine gland whole body viscus colorectum urogenital system internal female genital organ intracellular cytoplasm endosome early endosome late endosome plasma membrane integral component of plasma membrane endosome membrane endomembrane system vesicle membrane membrane integral component of membrane axon cytoplasmic vesicle membrane organelle membrane intrinsic component of membrane intrinsic component of plasma membrane cytoplasmic vesicle vesicle protein-containing complex cell projection neuron projection organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle receptor complex cell periphery intracellular vesicle bounding membrane of organelle cellular anatomical entity plasma membrane bounded cell projection cardiovascular measurement leukocyte count brain measurement hematological measurement complete blood cell count lymphocyte count renal system measurement uric acid measurement red blood cell distribution width infectious disease biomarker polychlorinated biphenyls measurement visual perception measurement abnormality of the kidney abnormality of the urinary system renal insufficiency phenotypic abnormality abnormality of the genitourinary system abnormality of head or neck abnormality of the mouth abnormality of the tongue abnormal oral cavity morphology abnormality of the dentition abnormality of the head abnormality of the face abnormality of the eye abnormal cornea morphology keratitis recurrent corneal erosions corneal scarring abnormality of the nervous system behavioral abnormality emotional lability disinhibition short attention span self-mutilation hyperactivity abnormal peripheral nervous system morphology abnormality of the endocrine system abnormality of the thyroid gland abnormality of the skeletal system abnormality of the vertebral column abnormality of the skin dry skin anhidrosis abnormal sweat gland morphology hyperhidrosis bruising susceptibility atypical scarring of skin poor wound healing abnormality of the hand autoamputation intellectual disability global developmental delay orthostatic hypotension syncope gait disturbance abnormal nervous system electrophysiology specific learning disability abnormal joint morphology arthritis growth abnormality growth delay abnormality of the integument abnormal hair morphology abnormality of the nail abnormality of the cardiovascular system abnormality of blood and blood-forming tissues abnormal erythrocyte morphology abnormal bleeding anemia subcutaneous hemorrhage abnormality of metabolism/homeostasis fever recurrent fever unexplained fevers abnormal scalp morphology dysphagia hypothermia abnormality of the respiratory system abnormal lung morphology pneumonia recurrent aspiration pneumonia nail dysplasia sparse scalp hair abnormality of the autonomic nervous system difficulty walking abnormality of the vasculature hypotension abnormal pelvic girdle bone morphology increased susceptibility to fractures painless fractures due to injury neoplasm abnormality of the immune system recurrent bacterial infections recurrent infections recurrent staphylococcus aureus infections osteomyelitis abnormality of the lower limb abnormality of the upper limb neuropathic arthropathy medullary thyroid carcinoma thyroid carcinoma distal sensory impairment abnormality of the musculature abnormality of the ankles arthropathy trophic limb changes septic arthritis abnormal peripheral myelination abnormality of peripheral nerve conduction abnormal hip bone morphology decreased number of peripheral myelinated nerve fibers somatic sensory dysfunction abnormality of connective tissue functional motor deficit abnormal anterior eye segment morphology abnormality of temperature regulation orthostatic hypotension due to autonomic dysfunction postural hypotension with compensatory tachycardia abnormality of humoral immunity abnormal hand morphology acral ulceration abnormality of the alveolar ridges premature loss of teeth abnormal aggressive, impulsive or violent behavior pain insensitivity decreased number of small peripheral myelinated nerve fibers impaired pain sensation autoamputation of digits recurrent staphylococcal infections hypohidrosis or hyperhidrosis opacification of the corneal stroma corneal opacity decreased corneal reflex sparse hair nail dystrophy alveolar ridge overgrowth abnormal axial skeleton morphology impaired temperature sensation abnormality of pain sensation trophic changes related to pain avascular necrosis abnormality of the upper urinary tract abnormality of immune system physiology abnormality of the gastrointestinal tract abnormal cardiovascular system physiology abnormality of dental structure abnormality of skin morphology aplasia/hypoplasia of the sweat glands aplasia of the sweat glands abnormality of skin adnexa morphology vascular skin abnormality abnormality of the urinary system physiology generalized abnormality of skin localized skin lesion abnormal hair quantity abnormality of higher mental function abdominal symptom abnormal corneal stroma morphology abnormal corneal epithelium morphology abnormal thyroid morphology neoplasm by anatomical site abnormal muscle physiology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology respiratory tract infection aspiration pneumonia feeding difficulties self-biting nail-biting abnormal renal physiology abnormal respiratory system morphology abnormal autonomic nervous system physiology abnormal homeostasis abnormal eye morphology abnormal eye physiology abnormal myelination pain chronic kidney disease abnormal nervous system physiology abnormal nervous system morphology abnormal inflammatory response increased inflammatory response functional abnormality of the gastrointestinal tract neurodevelopmental delay neurodevelopmental abnormality corneal ulceration abnormality of the digestive system abnormality of digestive system physiology constitutional symptom abnormal esophagus physiology abnormality of skin adnexa physiology abscess abnormality of peripheral nervous system electrophysiology tooth abscess abnormal tongue physiology tongue pain abnormal systemic blood pressure impairment in personality functioning abnormal oral morphology digital ulcer unusual infection abnormal peripheral nervous system physiology abnormal immune system morphology abnormality of the musculoskeletal system abnormal exteroceptive sensation abnormal corneal reflex abnormality of limbs abnormality of peripheral nerves pain in head and neck region abnormality of movement neoplasm of the thyroid gland abnormality of the scalp hair abnormality of lower limb joint inflammatory abnormality of the eye abnormality of the fascia fasciitis cognitive impairment neoplasm of the endocrine system scarring impulsivity abnormal lumbar spine morphology self-injurious behavior lichenification abnormal emotion/affect behavior hyperesthesia corneal erosion skin ulcer abnormality of the peripheral nervous system alternative splicing atp-binding chromosomal rearrangement developmental protein differentiation glycoprotein immunoglobulin domain kinase leucine-rich repeat membrane neurogenesis nucleotide-binding phosphoprotein proto-oncogene receptor repeat signal transferase transmembrane tyrosine-protein kinase ubl conjugation endosome cell membrane disulfide bond transmembrane helix cysteine-rich flanking region, c-terminal protein kinase domain serine-threonine/tyrosine-protein kinase, catalytic domain leucine-rich repeat tyrosine-protein kinase, receptor class ii, conserved site immunoglobulin-like domain tyrosine-protein kinase, active site protein kinase-like domain superfamily immunoglobulin-like fold protein kinase, atp binding site high affinity nerve growth factor receptor ntrk1 tyrosine-protein kinase, catalytic domain growth factor receptor ntrk growth factor receptor ntrk, leucine rich repeat c-terminal leucine-rich repeat domain superfamily immunoglobulin-like domain superfamily tyrosine kinase receptor a, transmembrane domain leucine rich repeat c-terminal domain tyrosine kinase, catalytic domain immunoglobulin cell fate specification neuron migration regulation of protein phosphorylation negative regulation of protein phosphorylation positive regulation of protein phosphorylation protein phosphorylation phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process response to stress cell communication signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway multicellular organism development nervous system development sensory organ development heart development metabolic process positive regulation of cell population proliferation response to wounding response to endogenous stimulus response to hormone negative regulation of metabolic process positive regulation of metabolic process regulation of signal transduction positive regulation of signal transduction cellular process response to organic substance regulation of gene expression positive regulation of phosphorus metabolic process negative regulation of phosphorus metabolic process positive regulation of macromolecule metabolic process negative regulation of macromolecule metabolic process positive regulation of gene expression positive regulation of organelle organization regulation of cell communication positive regulation of cell communication negative regulation of cell development regulation of cell death regulation of neuron projection development positive regulation of neuron projection development regulation of gliogenesis negative regulation of gliogenesis regulation of phosphatidylinositol 3-kinase signaling positive regulation of phosphatidylinositol 3-kinase signaling response to organic cyclic compound phosphorylation cell migration peptidyl-tyrosine phosphorylation peptidyl-amino acid modification peptidyl-tyrosine modification regulation of phosphate metabolic process regulation of metabolic process protein metabolic process neurogenesis regulation of signaling signaling positive regulation of signaling cell differentiation neuron differentiation regulation of cell migration positive regulation of cell migration regulation of cellular metabolic process negative regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cell projection organization positive regulation of cell projection organization regulation of protein modification process negative regulation of protein modification process positive regulation of protein modification process response to corticosteroid regulation of response to external stimulus positive regulation of response to external stimulus activation of protein kinase activity activation of protein kinase b activity multicellular organismal process developmental process response to retinoic acid regulation of actin cytoskeleton organization regulation of actin filament-based process regulation of organelle organization regulation of peptidyl-serine phosphorylation positive regulation of peptidyl-serine phosphorylation positive regulation of kinase activity response to lipid protein modification process neurotrophin signaling pathway regulation of locomotion positive regulation of locomotion regulation of cell population proliferation response to chemical regulation of phosphorylation negative regulation of phosphorylation positive regulation of phosphorylation positive regulation of catalytic activity regulation of gtpase activity macromolecule metabolic process regulation of map kinase activity positive regulation of map kinase activity regulation of mapk cascade positive regulation of mapk cascade macromolecule modification positive regulation of gtpase activity regulation of kinase activity ear development regulation of cellular component biogenesis positive regulation of molecular function cellular metabolic process primary metabolic process cell fate commitment response to ethanol regulation of cell differentiation negative regulation of cell differentiation regulation of glial cell differentiation negative regulation of glial cell differentiation regulation of protein kinase activity positive regulation of protein kinase activity negative regulation of phosphate metabolic process positive regulation of phosphate metabolic process ephrin receptor signaling pathway animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process response to steroid hormone regulation of response to stimulus positive regulation of response to stimulus neuron fate commitment neuron fate specification response to axon injury generation of neurons regulation of astrocyte differentiation negative regulation of astrocyte differentiation system development inner ear development anatomical structure development cellular developmental process cell motility regulation of neurogenesis negative regulation of neurogenesis regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process regulation of synapse structure or activity regulation of synapse organization response to stimulus regulation of chemotaxis positive regulation of chemotaxis regulation of positive chemotaxis positive regulation of positive chemotaxis negative regulation of developmental process regulation of cellular component organization positive regulation of cellular component organization regulation of nitrogen compound metabolic process negative regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process regulation of multicellular organismal process negative regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process negative regulation of protein metabolic process regulation of hydrolase activity regulation of transferase activity positive regulation of hydrolase activity positive regulation of transferase activity response to glucocorticoid response to mineralocorticoid response to corticosterone regulation of cytoskeleton organization positive regulation of cytoskeleton organization cellular response to stimulus regulation of protein kinase b signaling regulation of nervous system development negative regulation of nervous system development regulation of synapse assembly regulation of macromolecule metabolic process regulation of cell development negative regulation of cell death biological regulation regulation of biological quality regulation of molecular function response to growth factor cellular response to chemical stimulus cellular response to retinoic acid cellular response to organic substance cellular response to growth factor stimulus cellular response to lipid cellular response to endogenous stimulus organic substance metabolic process regulation of protein serine/threonine kinase activity positive regulation of protein serine/threonine kinase activity circulatory system development regulation of primary metabolic process cochlea development activation of gtpase activity response to alcohol regulation of postsynaptic specialization assembly regulation of postsynaptic density assembly regulation of presynapse organization regulation of postsynapse organization regulation of plasma membrane bounded cell projection organization organonitrogen compound metabolic process response to ketone response to oxygen-containing compound cellular response to oxygen-containing compound regulation of cell junction assembly regulation of organelle assembly regulation of intracellular signal transduction positive regulation of intracellular signal transduction regulation of excitatory synapse assembly regulation of presynapse assembly regulation of postsynaptic density organization response to nerve growth factor cellular response to nerve growth factor stimulus regulation of multicellular organismal development regulation of cell motility positive regulation of cell motility regulation of actin cytoskeleton reorganization positive regulation of actin cytoskeleton reorganization nucleotide binding p53 binding catalytic activity protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity transmembrane signaling receptor activity ephrin receptor activity gpi-linked ephrin receptor activity neurotrophin receptor activity binding protein binding atp binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding transmembrane receptor protein kinase activity growth factor binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding signaling receptor activity neurotrophin binding ion binding anion binding molecular transducer activity organic cyclic compound binding carbohydrate derivative binding catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding intracellular anatomical structure cytoplasm plasma membrane integral component of plasma membrane membrane integral component of membrane cell junction axon intrinsic component of membrane intrinsic component of plasma membrane protein-containing complex cell projection neuron projection receptor complex synapse postsynaptic membrane cell periphery synaptic membrane plasma membrane region postsynapse intrinsic component of postsynaptic membrane glutamatergic synapse integral component of postsynaptic membrane intrinsic component of synaptic membrane integral component of synaptic membrane cellular anatomical entity plasma membrane bounded cell projection postsynaptic cell membrane, and protein-protein interactions at synapses mixed, incl. synaptic membrane adhesion, and neurofascin interactions synaptic membrane adhesion, and receptor tyrosine-protein phosphatase, alpha/epsilon-type synaptic membrane adhesion, and adult fibrosarcoma synaptic membrane adhesion regulation of postsynaptic density assembly, and chromosome xp21 deletion syndrome neurotrophin signaling pathway central carbon metabolism in cancer neuronal system signal transduction signaling by ntrks receptor-type tyrosine-protein phosphatases protein-protein interactions at synapses signaling by receptor tyrosine kinases ntf3 activates ntrk3 signaling signaling by ntrk3 (trkc) activated ntrk3 signals through plcg1 activated ntrk3 signals through ras activated ntrk3 signals through pi3k ntrk3 as a dependence receptor brain-derived neurotrophic factor (bdnf) signaling pathway circadian rhythm genes neurogenesis regulation in the olfactory epithelium organ system cancer cell type cancer salivary gland carcinoma benign neoplasm organ system benign neoplasm musculoskeletal system benign neoplasm musculoskeletal system cancer thoracic disease connective tissue benign neoplasm physical disorder infantile myofibromatosis nephroma kidney cortex disease salivary gland disease disease of cellular proliferation breast cancer cancer musculoskeletal system disease urinary system disease connective tissue cancer kidney cancer adenocarcinoma acinar cell carcinoma carcinoma kidney benign neoplasm gastrointestinal system cancer fibrosarcoma breast adenocarcinoma breast carcinoma breast disease adult fibrosarcoma pediatric fibrosarcoma urinary system cancer disease mouth disease congenital mesoblastic nephroma breast secretory carcinoma thoracic cancer kidney disease connective tissue disease disease of anatomical entity urinary system benign neoplasm gastrointestinal system disease cellular congenital mesoblastic nephroma congenital fibrosarcoma oral cavity cancer salivary gland cancer tissues, cell types and enzyme sources animal brain central nervous system head nervous system whole body plasma membrane membrane protein-containing complex receptor complex cell periphery cellular anatomical entity cognition mental process intelligence protein measurement facial morphology measurement nose morphology measurement blood protein measurement alternative splicing atp-binding developmental protein differentiation glycoprotein immunoglobulin domain kinase leucine-rich repeat membrane neurogenesis nucleotide-binding phosphoprotein receptor repeat signal transferase transmembrane tyrosine-protein kinase disulfide bond transmembrane helix immunoglobulin i-set domain leucine-rich repeat n-terminal domain cysteine-rich flanking region, c-terminal protein kinase domain serine-threonine/tyrosine-protein kinase, catalytic domain leucine-rich repeat tyrosine-protein kinase, receptor class ii, conserved site immunoglobulin subtype immunoglobulin-like domain tyrosine-protein kinase, active site protein kinase-like domain superfamily immunoglobulin i-set immunoglobulin immunoglobulin-like fold protein kinase, atp binding site nt-3 growth factor receptor ntrk3 tyrosine-protein kinase, catalytic domain growth factor receptor ntrk growth factor receptor ntrk, leucine rich repeat c-terminal leucine-rich repeat domain superfamily immunoglobulin-like domain superfamily leucine rich repeat n-terminal domain leucine rich repeat c-terminal domain tyrosine kinase, catalytic domain immunoglobulin reproduction response to reactive oxygen species response to acid chemical skeletal system development angiogenesis luteinization blood vessel development eye development urogenital system development metanephros development in utero embryonic development cell activation kidney development vasculature development hematopoietic progenitor cell differentiation immune system process immune system development developmental process involved in reproduction protein phosphorylation lipid metabolic process phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process chemotaxis response to stress response to oxidative stress organelle organization cytoskeleton organization cell communication cell adhesion signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway positive regulation of cytosolic calcium ion concentration multicellular organism development sensory organ development heart development sex differentiation blood coagulation hemostasis metabolic process steroid metabolic process estrogen metabolic process positive regulation of cell population proliferation gonad development male gonad development female gonad development response to external stimulus response to wounding anatomical structure morphogenesis response to endogenous stimulus embryo development embryo development ending in birth or egg hatching animal organ morphogenesis tissue development positive regulation of metabolic process regulation of signal transduction positive regulation of signal transduction cellular process response to organic substance body morphogenesis response to organonitrogen compound regulation of gene expression regulation of phospholipase activity positive regulation of phospholipase activity regulation of platelet activation negative regulation of platelet activation positive regulation of phosphorus metabolic process regulation of cell communication positive regulation of cell communication regulation of hormone levels positive regulation of phospholipase c activity cellular component assembly involved in morphogenesis regulation of phosphatidylinositol 3-kinase signaling positive regulation of phosphatidylinositol 3-kinase signaling striated muscle tissue development cellular component organization phosphorylation cell migration peptidyl-tyrosine phosphorylation peptidyl-amino acid modification peptidyl-tyrosine modification regulation of lipid metabolic process regulation of phosphate metabolic process regulation of metabolic process protein metabolic process reproductive process ovulation cycle process cellular component assembly signal transduction involved in regulation of gene expression regulation of signaling signaling positive regulation of signaling actin filament-based process actin cytoskeleton organization hemopoiesis cell differentiation platelet activation regulation of blood coagulation negative regulation of blood coagulation extracellular matrix organization myofibril assembly respiratory tube development lung development adrenal gland development regulation of cell migration positive regulation of cell migration male genitalia development actomyosin structure organization regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of response to external stimulus negative regulation of response to external stimulus multicellular organismal process developmental process multicellular organism reproduction glomerulus development regulation of actin cytoskeleton organization regulation of actin filament-based process cellular component morphogenesis regulation of organelle organization leydig cell differentiation cellular response to stress positive regulation of kinase activity homotypic cell-cell adhesion cellular response to oxidative stress cellular response to reactive oxygen species cellular hormone metabolic process cardiocyte differentiation tube morphogenesis endocrine system development tube development intracellular signal transduction platelet-derived growth factor receptor-alpha signaling pathway cellular response to vascular endothelial growth factor stimulus response to platelet-derived growth factor cellular response to platelet-derived growth factor stimulus protein modification process vascular endothelial growth factor signaling pathway vegf-activated platelet-derived growth factor receptor signaling pathway positive regulation of cell proliferation by vegf-activated platelet derived growth factor receptor signaling pathway locomotion regulation of locomotion positive regulation of locomotion wound healing regulation of cell population proliferation response to chemical regulation of phosphorylation positive regulation of phosphorylation taxis hormone metabolic process odontogenesis of dentin-containing tooth odontogenesis muscle cell differentiation ovulation cycle chordate embryonic development camera-type eye development extracellular structure organization positive regulation of catalytic activity macromolecule metabolic process response to amino acid regulation of mapk cascade positive regulation of mapk cascade macromolecule modification regulation of kinase activity regulation of lipid kinase activity regulation of phosphatidylinositol 3-kinase activity positive regulation of phosphatidylinositol 3-kinase activity cellular component biogenesis positive regulation of molecular function cellular metabolic process primary metabolic process development of primary sexual characteristics external encapsulating structure organization fat cell differentiation regulation of cell differentiation positive regulation of lipid metabolic process positive regulation of phosphate metabolic process development of primary female sexual characteristics development of primary male sexual characteristics female sex differentiation male sex differentiation protein autophosphorylation platelet-derived growth factor receptor signaling pathway phosphatidylinositol-mediated signaling inositol lipid-mediated signaling regulation of fibroblast proliferation positive regulation of fibroblast proliferation cell development rhythmic process animal organ development blood vessel morphogenesis positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process hematopoietic or lymphoid organ development digestive tract morphogenesis embryonic digestive tract morphogenesis embryonic organ morphogenesis digestive tract development embryonic digestive tract development embryonic organ development regulation of response to stimulus positive regulation of response to stimulus negative regulation of response to stimulus embryonic morphogenesis reproductive structure development multicellular organismal reproductive process anatomical structure formation involved in morphogenesis embryonic cranial skeleton morphogenesis embryonic skeletal system morphogenesis skeletal system morphogenesis embryonic skeletal system development system development gland development cardiac muscle tissue development genitalia development anatomical structure development cellular developmental process cell motility sensory system development regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process coagulation regulation of coagulation negative regulation of coagulation regulation of cell activation negative regulation of cell activation white fat cell differentiation regulation of body fluid levels response to stimulus regulation of chemotaxis regulation of cellular component organization striated muscle cell differentiation regulation of phosphorus metabolic process regulation of multicellular organismal process negative regulation of multicellular organismal process regulation of hydrolase activity regulation of transferase activity positive regulation of hydrolase activity positive regulation of transferase activity regulation of cytoskeleton organization cellular response to stimulus muscle cell development striated muscle cell development cardiac myofibril assembly cardiac cell development cardiac muscle cell differentiation cardiac muscle cell development digestive system development roof of mouth development retina development in camera-type eye regulation of lipase activity positive regulation of lipase activity regulation of macromolecule metabolic process head development head morphogenesis face development face morphogenesis cell chemotaxis muscle tissue development respiratory system development regulation of wound healing negative regulation of wound healing muscle structure development retina vasculature development in camera-type eye renal system vasculature development renal system vasculature morphogenesis kidney vasculature morphogenesis kidney vasculature development reproductive system development cellular response to chemical stress biological regulation regulation of biological quality regulation of molecular function regulation of erk1 and erk2 cascade positive regulation of erk1 and erk2 cascade platelet aggregation response to growth factor cellular response to chemical stimulus organelle assembly cellular response to acid chemical cellular response to amino acid stimulus cellular response to organic substance cellular response to growth factor stimulus cellular response to organonitrogen compound cellular response to endogenous stimulus organic substance metabolic process cellular component organization or biogenesis renal system development nephron development glomerulus vasculature development glomerulus morphogenesis glomerulus vasculature morphogenesis glomerular capillary formation metanephric nephron development metanephric glomerulus development metanephric glomerulus vasculature development metanephric glomerulus morphogenesis metanephric glomerulus vasculature morphogenesis metanephric glomerular capillary formation circulatory system development regulation of primary metabolic process regulation of response to stress positive regulation of lipid kinase activity supramolecular fiber organization cell-cell adhesion non-membrane-bounded organelle assembly visual system development regulation of hemostasis negative regulation of hemostasis regulation of phospholipase c activity organic cyclic compound metabolic process organonitrogen compound metabolic process response to nitrogen compound cellular response to nitrogen compound response to oxygen-containing compound cellular response to oxygen-containing compound regulation of intracellular signal transduction positive regulation of intracellular signal transduction regulation of response to wounding negative regulation of response to wounding cranial skeletal system development regulation of cell motility positive regulation of cell motility regulation of actin cytoskeleton reorganization regulation of stem cell differentiation regulation of mesenchymal stem cell differentiation nucleotide binding catalytic activity protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity transmembrane signaling receptor activity platelet-derived growth factor receptor activity platelet-derived growth factor alpha-receptor activity vascular endothelial growth factor receptor activity signaling receptor binding platelet-derived growth factor receptor binding binding protein binding atp binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding transmembrane receptor protein kinase activity growth factor binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding signaling receptor activity vascular endothelial growth factor binding identical protein binding protein homodimerization activity ion binding anion binding protein-containing complex binding protein dimerization activity platelet-derived growth factor binding molecular transducer activity bbsome binding growth factor receptor binding organic cyclic compound binding carbohydrate derivative binding catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding intracellular anatomical structure nucleus nucleoplasm cytoplasm endoplasmic reticulum endoplasmic reticulum membrane golgi apparatus plasma membrane integral component of plasma membrane microvillus cilium external side of plasma membrane cell surface endomembrane system membrane integral component of membrane cell junction organelle membrane intrinsic component of membrane intrinsic component of plasma membrane membrane-enclosed lumen nuclear lumen organelle subcompartment protein-containing complex nuclear outer membrane-endoplasmic reticulum membrane network cell projection organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen receptor complex intracellular organelle lumen cell periphery side of membrane endoplasmic reticulum subcompartment actin-based cell projection cellular anatomical entity plasma membrane bounded cell projection mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and tyrosine-protein kinase, catalytic domain mixed, incl. constitutive signaling by aberrant pi3k in cancer, and fceri mediated ca+2 mobilization constitutive signaling by aberrant pi3k in cancer, and vegf ligand-receptor interactions constitutive signaling by aberrant pi3k in cancer, and vegf ligand-receptor interactions mixed, incl. fgfr2 ligand binding and activation, and pdgf/vegf domain pdgf/vegf domain, and vascular endothelial growth factor receptor activity pdgf/vegf domain egfr tyrosine kinase inhibitor resistance mapk signaling pathway ras signaling pathway rap1 signaling pathway calcium signaling pathway phospholipase d signaling pathway endocytosis pi3k-akt signaling pathway focal adhesion gap junction jak-stat signaling pathway regulation of actin cytoskeleton human cytomegalovirus infection pathways in cancer micrornas in cancer glioma prostate cancer melanoma central carbon metabolism in cancer choline metabolism in cancer pip3 activates akt signaling signal transduction disease downstream signal transduction signaling by pdgf negative regulation of the pi3k/akt network pi3k/akt signaling in cancer constitutive signaling by aberrant pi3k in cancer diseases of signal transduction by growth factor receptors and second messengers raf/map kinase cascade mapk family signaling cascades mapk1/mapk3 signaling pi5p, pp2a and ier3 regulate pi3k/akt signaling intracellular signaling by second messengers signaling by receptor tyrosine kinases signaling by pdgfr in disease signaling by pdgfra transmembrane, juxtamembrane and kinase domain mutants signaling by pdgfra extracellular domain mutants imatinib-resistant pdgfr mutants sunitinib-resistant pdgfr mutants regorafenib-resistant pdgfr mutants sorafenib-resistant pdgfr mutants drug resistance of pdgfr mutants pdgfr mutants bind tkis angiogenesis glioblastoma signaling pathways allograft rejection cardiac progenitor differentiation hair follicle development: organogenesis - part 2 of 3 focal adhesion osteoblast signaling photodynamic therapy-induced ap-1 survival signaling imatinib and chronic myeloid leukemia embryonic stem cell pluripotency pathways focal adhesion: pi3k-akt-mtor-signaling pathway clear cell renal cell carcinoma pathways pi3k-akt signaling pathway ras signaling regulatory circuits of the stat3 signaling pathway hippo signaling regulation pathways hippo-merlin signaling dysregulation egfr tyrosine kinase inhibitor resistance malignant pleural mesothelioma regulation of actin cytoskeleton monogenic disease organ system cancer cell type cancer autosomal dominant disease autosomal genetic disease chronic eosinophilic leukemia carney-stratakis syndrome chronic leukemia leukemia disease of cellular proliferation cancer syndrome hematologic cancer gastrointestinal system cancer mesenchymal cell neoplasm disease genetic disease disease of anatomical entity hematopoietic system disease gastrointestinal system disease gastrointestinal stromal tumor tissues, cell types and enzyme sources animal reproductive system male reproductive system female reproductive system blood brain embryonic structure respiratory system central nervous system head organism form eosinophil penis fetus granulocyte hematopoietic system hematopoietic cell colonic cancer cell leukocyte lung placenta prepuce trachea nervous system whole body gastrointestinal cancer cell urogenital system external male genital organ internal female genital organ gastrointestinal stromal tumor cell intracellular nucleus nucleoplasm plasma membrane integral component of plasma membrane cilium membrane integral component of membrane cell junction intrinsic component of membrane intrinsic component of plasma membrane membrane-enclosed lumen nuclear lumen protein-containing complex cell projection organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen intracellular organelle lumen cell periphery cellular anatomical entity plasma membrane bounded cell projection ischemia sign or symptom pain eye measurement protein measurement optic disc measurement cup-to-disc ratio measurement outer ear morphology trait lobe attachment blood protein measurement phenotypic abnormality abnormality of the eye abnormal cornea morphology astigmatism abnormality of vision abnormality of refraction blurred vision abnormality of the nervous system behavioral abnormality dementia abnormal peripheral nervous system morphology abnormality of the skeletal system abnormality of the skin hyperpigmentation of the skin eczema cutis marmorata edema pallor skin rash pruritus abnormality of skin pigmentation erythroderma urticaria neurofibromas biliary tract abnormality abnormality of the hand abnormality of finger large hands clubbing seizure mental deterioration confusion stroke encephalopathy muscle weakness hyperreflexia abnormal joint morphology arthritis joint swelling abnormality of the liver hepatosplenomegaly abnormal abdomen morphology growth abnormality failure to thrive abnormality of the integument abnormality of the cardiovascular system abnormal heart morphology congestive heart failure abnormal myocardium morphology cardiomyopathy dilated cardiomyopathy restrictive cardiomyopathy thromboembolic stroke abnormality of the pancreas pancreatitis abnormality of the spleen splenomegaly ankle swelling abnormality of blood and blood-forming tissues abnormality of thrombocytes thrombocytopenia abnormality of neutrophils abnormal erythrocyte morphology abnormal eosinophil morphology eosinophilia abnormal leukocyte morphology abnormal bleeding thrombocytosis anemia thromboembolism leukemia abnormal granulocyte morphology abnormality of coagulation abnormality of metabolism/homeostasis fever leukocytosis abnormal thrombosis morphological central nervous system abnormality abnormality of the abdominal organs vomiting diarrhea dysphagia nausea and vomiting constipation malabsorption abdominal pain chronic diarrhea abnormal esophagus morphology abnormal rectum morphology inflammation of the large intestine abnormality of the respiratory system abnormal lung morphology dyspnea respiratory distress asthma abnormal pleura morphology pulmonary infiltrates intracranial hemorrhage pleural effusion pulmonary embolism pulmonary fibrosis gastrointestinal hemorrhage hepatomegaly abnormal intestine morphology abnormal large intestine morphology transient ischemic attack memory impairment intussusception abnormal stomach morphology colitis abnormality of the vasculature vasculitis cerebral ischemia neoplasm abnormality of the immune system lymphadenopathy abnormal lymph node morphology abnormal pattern of respiration abnormal respiratory system physiology abnormality of limb bone morphology abnormality of the lower limb abnormality of the upper limb arthralgia myelodysplasia elevated hepatic transaminase abnormality of the musculature abnormality of the ankles skeletal muscle atrophy abdominal distention visceromegaly myalgia paresthesia somatic sensory dysfunction abnormality of the biliary system functional motor deficit abnormal endocardium morphology abnormality of body weight decreased body weight abnormal anterior eye segment morphology abnormality of temperature regulation reduced consciousness/confusion neoplasm of the nervous system hematological neoplasm gastrointestinal inflammation gastrointestinal obstruction venous thrombosis supraventricular arrhythmia intestinal obstruction intestinal polyp myeloproliferative disorder abnormality of bone marrow cell morphology abnormal finger phalanx morphology abnormal hand morphology swelling of proximal interphalangeal joints abnormal phalangeal joint morphology of the hand abnormal pulmonary interstitial morphology portal fibrosis endocardial fibrosis neoplasm of the stomach neoplasm of the gastrointestinal tract irregular hyperpigmentation neoplasm of the skin feeding difficulties in infancy generalized lymphadenopathy peripheral neuropathy fibroma abnormal myeloid leukocyte morphology abnormality of immune system physiology abnormal cellular immune system morphology abnormality of the gastrointestinal tract abnormal cardiovascular system physiology abnormality of blood circulation internal hemorrhage abnormality of fluid regulation abnormality of skin morphology abnormality of skin physiology inflammatory abnormality of the skin vascular skin abnormality abnormal digit morphology generalized abnormality of skin localized skin lesion abnormality of higher mental function abdominal symptom arrhythmia neoplasm by histology neoplasm by anatomical site abnormal muscle physiology abnormal skeletal muscle morphology abnormal skeletal morphology abnormal appendicular skeleton morphology abnormal platelet count abnormal platelet morphology abnormal leukocyte count neutrophilia feeding difficulties myelofibrosis abnormal neutrophil count abnormality of pancreas physiology hepatitis abnormality of multiple cell lineages in the bone marrow abnormal respiratory system morphology neoplasm of head and neck fibrous tissue neoplasm abnormal homeostasis abnormal eye morphology abnormal eye physiology fatigue abnormal enzyme/coenzyme activity abnormal biliary tract morphology abnormality of brain morphology pain abnormal nervous system physiology abnormal nervous system morphology abnormal inflammatory response increased inflammatory response morphological abnormality of the gastrointestinal tract functional abnormality of the gastrointestinal tract anorectal anomaly cough abnormal eosinophil count abnormal vascular morphology abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology constitutional symptom abnormal esophagus physiology cervical lymphadenopathy abnormal arterial physiology abnormal spleen morphology cholangitis abnormal vascular physiology abnormality of muscle size soft tissue sarcoma abnormality of cardiovascular system morphology abnormality of pulmonary circulation raynaud phenomenon abnormality of cardiovascular system electrophysiology myocardial immune cell infiltration myocardial eosinophilic infiltration abnormal reflex abnormal pulmonary thoracic imaging finding abnormal immune system morphology abnormal granulocyte count abnormality of the musculoskeletal system abnormal blood vessel morphology tissue ischemia abnormal exteroceptive sensation abnormality of limbs abnormality of limb bone neoplasm of the peripheral nervous system abnormality of movement sarcoma neoplasm of the colon immunologic hypersensitivity abnormality of lower limb joint cognitive impairment abnormal cerebral vascular morphology angioedema abnormality of the curvature of the cornea gastrointestinal stroma tumor hypercoagulability neoplasm of the rectum chest pain esophageal neoplasm abnormality of the lymphatic system neoplasm of the small intestine neoplasm of the large intestine intestinal polyposis vasculitis in the skin papule skin nodule chronic hepatitis abnormal liver morphology alternative splicing atp-binding chemotaxis developmental protein glycoprotein golgi apparatus immunoglobulin domain kinase membrane nucleotide-binding phosphoprotein proto-oncogene receptor repeat signal transferase transmembrane tyrosine-protein kinase ubl conjugation host-virus interaction cell projection cell membrane disulfide bond transmembrane helix protein kinase domain serine-threonine/tyrosine-protein kinase, catalytic domain tyrosine-protein kinase, receptor class iii, conserved site immunoglobulin subtype 2 immunoglobulin subtype immunoglobulin-like domain tyrosine-protein kinase, active site protein kinase-like domain superfamily immunoglobulin i-set immunoglobulin-like fold protein kinase, atp binding site tyrosine-protein kinase, catalytic domain platelet-derived growth factor receptor alpha immunoglobulin-like domain superfamily tyrosine kinase, catalytic domain immunoglobulin c-2 type immunoglobulin immunoglobulin like reproduction response to reactive oxygen species angiogenesis blood vessel development vasculogenesis eye development urogenital system development metanephros development kidney development regulation of protein phosphorylation positive regulation of protein phosphorylation vasculature development developmental process involved in reproduction metanephros morphogenesis aminoglycan metabolic process aminoglycan biosynthetic process glycosaminoglycan biosynthetic process protein phosphorylation lipid metabolic process phospholipid metabolic process glycerophospholipid metabolic process phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process chemotaxis response to stress response to oxidative stress organelle organization cytoskeleton organization regulation of mitotic nuclear division cell communication signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway g protein-coupled receptor signaling pathway multicellular organism development regulation of mitotic cell cycle sensory organ development heart development sex differentiation aging metabolic process cell population proliferation positive regulation of cell population proliferation gonad development male gonad development biosynthetic process macromolecule biosynthetic process response to external stimulus response to wounding response to abiotic stimulus response to toxic substance anatomical structure morphogenesis response to endogenous stimulus response to hormone animal organ morphogenesis tissue development regulation of biosynthetic process positive regulation of biosynthetic process positive regulation of metabolic process regulation of signal transduction positive regulation of signal transduction cellular process response to organic substance response to inorganic substance regulation of phospholipase activity positive regulation of phospholipase activity regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process positive regulation of phosphorus metabolic process regulation of cell cycle process positive regulation of macromolecule metabolic process positive regulation of organelle organization regulation of cell communication positive regulation of cell communication regulation of collagen metabolic process positive regulation of collagen metabolic process positive regulation of phospholipase c activity regulation of phosphatase activity positive regulation of phosphatase activity cellular component assembly involved in morphogenesis regulation of cell death positive regulation of cell death regulation of metal ion transport regulation of phosphatidylinositol 3-kinase signaling positive regulation of phosphatidylinositol 3-kinase signaling response to organic cyclic compound striated muscle tissue development muscle cell migration smooth muscle cell migration regulation of smooth muscle cell migration positive regulation of smooth muscle cell migration cellular component organization phosphorylation cell migration peptidyl-tyrosine phosphorylation peptidyl-amino acid modification peptidyl-tyrosine modification regulation of lipid metabolic process regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process protein metabolic process organophosphate metabolic process reproductive process cellular component assembly regulation of signaling signaling positive regulation of signaling actin filament-based process actin cytoskeleton organization cell differentiation glycosaminoglycan metabolic process myofibril assembly respiratory tube development lung development regulation of cell migration positive regulation of cell migration actomyosin structure organization regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process regulation of protein modification process positive regulation of protein modification process regulation of response to external stimulus positive regulation of response to external stimulus response to estradiol multicellular organismal process developmental process positive regulation of phosphoprotein phosphatase activity response to retinoic acid glomerulus development regulation of localization regulation of actin cytoskeleton organization regulation of collagen biosynthetic process positive regulation of collagen biosynthetic process regulation of actin filament-based process cellular component morphogenesis regulation of organelle organization positive regulation of kinase activity response to lipid response to fluid shear stress regulation of rho protein signal transduction positive regulation of rho protein signal transduction cardiocyte differentiation tube morphogenesis organ growth tube development regulation of dephosphorylation regulation of protein dephosphorylation positive regulation of dephosphorylation positive regulation of protein dephosphorylation cell migration involved in vasculogenesis intracellular signal transduction cell migration involved in kidney development cell migration involved in metanephros development metanephric mesenchymal cell migration platelet-derived growth factor receptor-beta signaling pathway positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway aorta development aorta morphogenesis cellular response to vascular endothelial growth factor stimulus response to platelet-derived growth factor cellular response to platelet-derived growth factor stimulus protein modification process response to increased oxygen levels vascular endothelial growth factor signaling pathway vegf-activated platelet-derived growth factor receptor signaling pathway positive regulation of cell proliferation by vegf-activated platelet derived growth factor receptor signaling pathway growth locomotion regulation of locomotion positive regulation of locomotion wound healing regulation of cell population proliferation response to chemical regulation of phosphorylation positive regulation of phosphorylation taxis response to hydrogen peroxide muscle cell differentiation regulation of apoptotic process camera-type eye development positive regulation of apoptotic process negative regulation of apoptotic process regulation of programmed cell death positive regulation of programmed cell death negative regulation of programmed cell death positive regulation of catalytic activity macromolecule metabolic process regulation of ion transport positive regulation of ion transport regulation of map kinase activity positive regulation of map kinase activity regulation of mapk cascade positive regulation of mapk cascade macromolecule modification regulation of kinase activity regulation of lipid kinase activity regulation of phosphatidylinositol 3-kinase activity positive regulation of phosphatidylinositol 3-kinase activity ear development response to estrogen regulation of phosphoprotein phosphatase activity cellular component biogenesis positive regulation of molecular function cellular metabolic process primary metabolic process cellular lipid metabolic process development of primary sexual characteristics positive regulation of cell cycle positive regulation of lipid metabolic process positive regulation of mitotic nuclear division regulation of protein kinase activity positive regulation of protein kinase activity positive regulation of nucleobase-containing compound metabolic process positive regulation of phosphate metabolic process glycerolipid metabolic process phosphatidylinositol metabolic process development of primary male sexual characteristics regulation of ras protein signal transduction positive regulation of ras protein signal transduction male sex differentiation protein autophosphorylation platelet-derived growth factor receptor signaling pathway phosphatidylinositol-mediated signaling inositol lipid-mediated signaling regulation of fibroblast proliferation positive regulation of fibroblast proliferation cell development animal organ development blood vessel morphogenesis positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process regulation of response to stimulus positive regulation of response to stimulus developmental growth reproductive structure development anatomical structure formation involved in morphogenesis regulation of smooth muscle cell proliferation positive regulation of smooth muscle cell proliferation system development cardiac muscle tissue development inner ear development artery morphogenesis anatomical structure development cellular developmental process cell motility sensory system development regulation of biological process regulation of catalytic activity regulation of cellular process regulation of cell activation positive regulation of cell activation response to stimulus regulation of chemotaxis positive regulation of chemotaxis regulation of transport positive regulation of transport regulation of dna metabolic process positive regulation of dna metabolic process regulation of small gtpase mediated signal transduction positive regulation of small gtpase mediated signal transduction regulation of cellular component organization positive regulation of cellular component organization striated muscle cell differentiation regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process regulation of protein metabolic process positive regulation of protein metabolic process regulation of hydrolase activity regulation of transferase activity positive regulation of hydrolase activity positive regulation of transferase activity regulation of cytoskeleton organization cellular response to stimulus regulation of cell cycle regulation of nuclear division positive regulation of nuclear division regulation of calcium ion transport positive regulation of calcium ion transport muscle cell development striated muscle cell development cardiac myofibril assembly cardiac cell development cardiac muscle cell differentiation cardiac muscle cell development response to hyperoxia retina development in camera-type eye regulation of lipase activity positive regulation of lipase activity regulation of macromolecule metabolic process cell chemotaxis lung growth mesenchyme development muscle tissue development respiratory system development negative regulation of cell death artery development cell migration involved in heart development coronary vasculature development coronary vasculature morphogenesis angiogenesis involved in coronary vascular morphogenesis cell migration involved in coronary angiogenesis kidney morphogenesis muscle structure development retina vasculature development in camera-type eye renal system vasculature development renal system vasculature morphogenesis kidney vasculature morphogenesis kidney vasculature development connective tissue development reproductive system development biological regulation regulation of molecular function regulation of erk1 and erk2 cascade positive regulation of erk1 and erk2 cascade response to oxygen levels response to growth factor cellular response to chemical stimulus organelle assembly cellular response to organic substance cellular response to growth factor stimulus cellular response to endogenous stimulus smooth muscle cell chemotaxis organic substance metabolic process cellular component organization or biogenesis regulation of protein serine/threonine kinase activity positive regulation of protein serine/threonine kinase activity renal system development nephron development glomerulus vasculature development nephron morphogenesis comma-shaped body morphogenesis s-shaped body morphogenesis kidney mesenchyme development metanephric mesenchyme development glomerulus morphogenesis glomerulus vasculature morphogenesis glomerular capillary formation glomerular mesangium development glomerular mesangial cell proliferation cell proliferation involved in kidney development cell proliferation involved in metanephros development metanephric nephron development metanephric glomerular mesangium development metanephric glomerulus development metanephric glomerulus vasculature development metanephric glomerular mesangial cell proliferation involved in metanephros development metanephric nephron morphogenesis metanephric glomerulus morphogenesis metanephric glomerulus vasculature morphogenesis metanephric glomerular capillary formation metanephric comma-shaped body morphogenesis metanephric s-shaped body morphogenesis circulatory system development regulation of primary metabolic process positive regulation of cell cycle process positive regulation of lipid kinase activity regulation of calcium ion import positive regulation of calcium ion import supramolecular fiber organization non-membrane-bounded organelle assembly visual system development regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway regulation of phospholipase c activity carbohydrate derivative metabolic process carbohydrate derivative biosynthetic process organonitrogen compound metabolic process organonitrogen compound biosynthetic process organic substance biosynthetic process response to oxygen-containing compound regulation of intracellular signal transduction positive regulation of intracellular signal transduction regulation of cell motility positive regulation of cell motility regulation of dna biosynthetic process regulation of reactive oxygen species metabolic process positive regulation of reactive oxygen species metabolic process regulation of hepatic stellate cell activation positive regulation of hepatic stellate cell activation positive regulation of dna biosynthetic process regulation of metanephric mesenchymal cell migration positive regulation of metanephric mesenchymal cell migration nucleotide binding catalytic activity protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity transmembrane signaling receptor activity g protein-coupled receptor activity platelet activating factor receptor activity platelet-derived growth factor receptor activity platelet-derived growth factor beta-receptor activity signaling receptor binding platelet-derived growth factor receptor binding binding protein binding atp binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding transmembrane receptor protein kinase activity growth factor binding enzyme binding kinase binding protein kinase binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding signaling receptor activity vascular endothelial growth factor binding ion binding anion binding phosphatidylinositol 3-kinase binding platelet-derived growth factor binding molecular transducer activity growth factor receptor binding organic cyclic compound binding carbohydrate derivative binding catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding lytic vacuole intracellular anatomical structure nucleus cytoplasm lysosome vacuole vacuolar lumen golgi apparatus plasma membrane integral component of plasma membrane focal adhesion cell surface endomembrane system membrane integral component of membrane apical plasma membrane cell junction cell-substrate junction intrinsic component of membrane intrinsic component of plasma membrane cytoplasmic vesicle membrane-enclosed lumen vesicle protein-containing complex lysosomal lumen organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen receptor complex apical part of cell intracellular organelle lumen anchoring junction cell periphery intracellular vesicle plasma membrane region cellular anatomical entity mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and tyrosine-protein kinase, catalytic domain mixed, incl. constitutive signaling by aberrant pi3k in cancer, and fceri mediated ca+2 mobilization gpvi-mediated activation cascade, and sh2 domain superfamily mixed, incl. gpvi-mediated activation cascade, and insulin receptor binding mixed, incl. signaling by erythropoietin, and insulin receptor complex downstream signal transduction, and grb2-associated-binding protein 1-4-like egfr tyrosine kinase inhibitor resistance mapk signaling pathway ras signaling pathway rap1 signaling pathway calcium signaling pathway phospholipase d signaling pathway pi3k-akt signaling pathway focal adhesion gap junction jak-stat signaling pathway regulation of actin cytoskeleton human papillomavirus infection pathways in cancer micrornas in cancer glioma prostate cancer melanoma central carbon metabolism in cancer choline metabolism in cancer pip3 activates akt signaling signal transduction disease downstream signal transduction signaling by pdgf negative regulation of the pi3k/akt network pi3k/akt signaling in cancer constitutive signaling by aberrant pi3k in cancer diseases of signal transduction by growth factor receptors and second messengers raf/map kinase cascade mapk family signaling cascades mapk1/mapk3 signaling pi5p, pp2a and ier3 regulate pi3k/akt signaling intracellular signaling by second messengers signaling by receptor tyrosine kinases glioblastoma signaling pathways pdgf pathway focal adhesion osteoblast signaling imatinib and chronic myeloid leukemia mapk signaling pathway embryonic stem cell pluripotency pathways focal adhesion: pi3k-akt-mtor-signaling pathway pdgfr-beta pathway mirna regulation of prostate cancer signaling pathways clear cell renal cell carcinoma pathways pi3k-akt signaling pathway ras signaling regulatory circuits of the stat3 signaling pathway hippo signaling regulation pathways hippo-merlin signaling dysregulation egfr tyrosine kinase inhibitor resistance genes controlling nephrogenesis burn wound healing malignant pleural mesothelioma regulation of actin cytoskeleton markers of kidney cell lineage organ system cancer benign neoplasm organ system benign neoplasm musculoskeletal system benign neoplasm connective tissue benign neoplasm infantile myofibromatosis chronic myelomonocytic leukemia chronic eosinophilic leukemia chronic leukemia leukemia disease of cellular proliferation cancer musculoskeletal system disease hematologic cancer disease connective tissue disease disease of anatomical entity hematopoietic system disease tissues, cell types and enzyme sources animal cardiovascular system brain sense organ central nervous system head eye vascular system retina nervous system whole body pericyte capillary pericyte mural cell lytic vacuole intracellular cytoplasm lysosome vacuole vacuolar lumen plasma membrane focal adhesion membrane apical plasma membrane cell junction cell-substrate junction intrinsic component of membrane intrinsic component of plasma membrane membrane-enclosed lumen lysosomal lumen organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen apical part of cell intracellular organelle lumen anchoring junction cell periphery plasma membrane region cellular anatomical entity disease skeletal system disease bone disease scoliosis cardiovascular measurement leukocyte count hematological measurement complete blood cell count protein measurement ccl2 measurement interleukin 10 measurement interleukin 12 measurement vascular endothelial growth factor measurement interleukin-6 measurement inflammatory biomarker measurement cytokine measurement monocyte count cancer biomarker measurement cardiovascular disease biomarker measurement alzheimers disease biomarker measurement cerebrospinal fluid biomarker measurement mental or behavioural disorder biomarker endothelial growth factor measurement blood protein measurement granulocyte count myeloid white cell count monocyte percentage of leukocytes granulocyte percentage of myeloid white cells fibroblast growth factor basic measurement granulocyte colony-stimulating factor measurement interferon gamma measurement interleukin 17 measurement interleukin 4 measurement platelet-derived growth factor bb measurement platelet-derived growth factor receptor beta measurement stromal cell-derived factor 1 alpha measurement musculoskeletal system disease abnormality of body height abnormality of the kidney abnormality of the urinary system tall stature phenotypic abnormality abnormality of the genitourinary system abnormality of head or neck abnormality of the mouth abnormal lip morphology abnormal oral cavity morphology abnormality of the dentition abnormality of the gingiva gingival fibromatosis abnormal upper lip morphology thin upper lip vermilion thin vermilion border abnormality of the head abnormality of the fontanelles or cranial sutures abnormality of skull size microcephaly delayed cranial suture closure abnormality of the face abnormal mandible morphology abnormality of the forehead abnormality of the chin pointed chin abnormal midface morphology abnormality of the orbital region abnormality of the maxilla hypoplasia of the maxilla prominent supraorbital ridges micrognathia hearing abnormality hearing impairment abnormality of the nose sensorineural hearing impairment abnormal nasal bridge morphology prominent nasal bridge wide nasal bridge narrow nose abnormality of the eye abnormal cornea morphology abnormal eyelid morphology downslanted palpebral fissures abnormality of eye movement ptosis proptosis abnormality of refraction hypermetropia abnormality of the ear abnormality of the periorbital region nystagmus delayed eruption of teeth abnormality of the nervous system behavioral abnormality depression dementia anxiety abnormal thorax morphology abnormality of the endocrine system abnormality of the hypothalamus-pituitary axis abnormality of the skeletal system abnormality of the vertebral column abnormality of skeletal maturation abnormal skull morphology chondrocalcinosis osteopenia abnormal metaphysis morphology abnormality of the skin hyperpigmentation of the skin hyperkeratosis thin skin hyperextensible skin abnormality of skin pigmentation fragile skin thickened skin abnormality of the hand brachydactyly abnormality of finger seizure mental deterioration parkinsonism abnormal joint morphology limitation of joint mobility abnormality of the liver abnormal abdomen morphology subcutaneous nodule growth abnormality growth delay intrauterine growth retardation overgrowth abnormality of the integument abnormal hair morphology abnormality of the cardiovascular system abnormality of the pancreas abnormal foot morphology long foot abnormality of blood and blood-forming tissues abnormality of thrombocytes thrombocytopenia abnormal eosinophil morphology eosinophilia abnormal leukocyte morphology abnormal bleeding leukemia abnormal granulocyte morphology subcutaneous hemorrhage abnormality of metabolism/homeostasis leukocytosis morphological central nervous system abnormality abnormality of the abdominal organs abnormal esophagus morphology abnormal cerebral morphology abnormality of extrapyramidal motor function migraine abnormality of the respiratory system abnormal lung morphology abnormal cerebral ventricle morphology ventriculomegaly abnormal basal ganglia morphology basal ganglia calcification hepatomegaly abnormal intestine morphology abnormality of neuronal migration headache progressive neurologic deterioration upper motor neuron dysfunction cerebral calcification abnormal cerebral cortex morphology tracheoesophageal fistula abnormality of the vasculature wormian bones scoliosis neoplasm abnormal calvaria morphology abnormality of the immune system delayed skeletal maturation abnormal tracheal morphology osteolysis abnormality of limb bone morphology abnormality of the lower limb abnormality of the upper limb neoplasm of the pancreas elevated circulating thyroid-stimulating hormone concentration thoracolumbar scoliosis aplasia/hypoplasia involving the central nervous system abnormality of the musculature hypercalcemia slender long bone abnormal blood ion concentration visceromegaly abnormal bone structure abnormality of connective tissue abnormal anterior eye segment morphology abnormality of bone mineral density reduced bone mineral density abnormal circulating calcium concentration hemiplegia/hemiparesis neoplasm of the nervous system hematological neoplasm gastrointestinal obstruction abnormal nasal morphology abnormal sacrum morphology intestinal obstruction myeloproliferative disorder abnormal tracheobronchial morphology abnormal finger phalanx morphology abnormal hand morphology abnormality of dental eruption malignant eosinophil proliferation aplasia/hypoplasia of the cerebrum irregular hyperpigmentation corneal opacity abnormality of the palpebral fissures aplasia/hypoplasia of the skin abnormally lax or hyperextensible skin neoplasm of the skin sparse hair aplasia/hypoplasia involving the skeleton aplasia/hypoplasia involving bones of the skull aplasia/hypoplasia of the mandible abnormal axial skeleton morphology aplasia/hypoplasia affecting bones of the axial skeleton abnormal adipose tissue morphology lipodystrophy osteolytic defects of the hand bones osteolytic defects of the phalanges of the hand thin calvarium weakness due to upper motor neuron dysfunction fibroma abnormal elasticity of skin abnormality of the curvature of the vertebral column ectopic calcification abnormal blood inorganic cation concentration abnormal blood cation concentration abnormality of the upper urinary tract abnormal myeloid leukocyte morphology abnormal cellular immune system morphology abnormal cerebral subcortex morphology abnormality of the gastrointestinal tract abnormality of skin morphology abnormality of skin adnexa morphology prominent forehead vascular skin abnormality abnormal digit morphology abnormal long bone morphology abnormality of cranial sutures abnormality of upper lip vermillion generalized abnormality of skin localized skin lesion abnormal hair quantity epidermal thickening functional abnormality of the inner ear abnormal central motor function abnormality of higher mental function abnormality of joint mobility neoplasm by histology neoplasm by anatomical site midface retrusion abnormal facial skeleton morphology abnormal oral mucosa morphology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology abnormal bone ossification abnormal platelet count abnormal platelet morphology abnormal leukocyte count short digit bone cyst abnormal respiratory system morphology fibrous tissue neoplasm abnormal eye morphology abnormal eye physiology abnormality of brain morphology abnormality of the pituitary gland abnormal involuntary eye movements abnormal nervous system physiology abnormal nervous system morphology morphological abnormality of the gastrointestinal tract functional abnormality of the gastrointestinal tract abnormal eosinophil count myofibromatosis abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology soft tissue sarcoma abnormal ocular adnexa morphology abnormal jaw morphology abnormal thyroid-stimulating hormone level soft tissue neoplasm impairment in personality functioning abnormal ear physiology abnormal oral morphology abnormality of the ocular adnexa abnormal circulating metabolite concentration abnormal immune system morphology abnormal granulocyte count abnormality of the musculoskeletal system abnormal temporal lobe morphology abnormal joint physiology abnormality of limbs abnormality of limb bone abnormal upper limb bone morphology decreased head circumference osteolysis involving bones of the upper limbs neoplasm of the central nervous system sarcoma neoplasm of the lung abnormality of the supraorbital ridges cognitive impairment abnormal forebrain morphology lipoatrophy neoplasm of the respiratory system abnormal sharpey fiber morphology benign neoplasm of the central nervous system abnormal fear/anxiety-related behavior abnormality of globe location slanting of the palpebral fissure skin nodule skin ulcer abnormal liver morphology disease of bone structure alternative splicing atp-binding chemotaxis chromosomal rearrangement developmental protein glycoprotein immunoglobulin domain kinase lysosome membrane nucleotide-binding phosphoprotein proto-oncogene receptor repeat signal transferase transmembrane tyrosine-protein kinase ubl conjugation cytoplasmic vesicle cell membrane disulfide bond transmembrane helix protein kinase domain serine-threonine/tyrosine-protein kinase, catalytic domain tyrosine-protein kinase, receptor class iii, conserved site immunoglobulin subtype 2 immunoglobulin subtype immunoglobulin-like domain tyrosine-protein kinase, active site protein kinase-like domain superfamily immunoglobulin i-set immunoglobulin immunoglobulin-like fold protein kinase, atp binding site tyrosine-protein kinase, catalytic domain platelet-derived growth factor receptor beta immunoglobulin-like domain superfamily tyrosine kinase, catalytic domain immunoglobulin c-2 type immunoglobulin carbohydrate metabolic process monosaccharide metabolic process glucose metabolic process organic acid metabolic process acetyl-coa metabolic process acetyl-coa biosynthetic process acetyl-coa biosynthetic process from pyruvate pyruvate metabolic process generation of precursor metabolites and energy tricarboxylic acid cycle nucleobase-containing compound metabolic process purine nucleotide metabolic process purine nucleotide biosynthetic process acyl-coa metabolic process cellular aromatic compound metabolic process nucleoside phosphate metabolic process sulfur compound metabolic process phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process metabolic process biosynthetic process aerobic respiration nucleotide metabolic process purine ribonucleotide metabolic process purine ribonucleotide biosynthetic process nucleotide biosynthetic process ribonucleotide metabolic process ribonucleotide biosynthetic process cellular process energy derivation by oxidation of organic compounds heterocycle biosynthetic process hexose metabolic process aromatic compound biosynthetic process organophosphate metabolic process ribose phosphate metabolic process carboxylic acid metabolic process monocarboxylic acid metabolic process nucleoside bisphosphate metabolic process nucleoside bisphosphate biosynthetic process ribonucleoside bisphosphate metabolic process ribonucleoside bisphosphate biosynthetic process purine nucleoside bisphosphate metabolic process purine nucleoside bisphosphate biosynthetic process cellular nitrogen compound metabolic process nucleobase-containing compound biosynthetic process thioester metabolic process thioester biosynthetic process oxoacid metabolic process cellular amide metabolic process amide biosynthetic process cellular metabolic process primary metabolic process cellular biosynthetic process cellular nitrogen compound biosynthetic process sulfur compound biosynthetic process small molecule metabolic process cellular respiration ribose phosphate biosynthetic process heterocycle metabolic process nucleobase-containing small molecule metabolic process mitochondrial acetyl-coa biosynthetic process from pyruvate acyl-coa biosynthetic process organic substance metabolic process purine-containing compound metabolic process purine-containing compound biosynthetic process organophosphate biosynthetic process carbohydrate derivative metabolic process carbohydrate derivative biosynthetic process nucleoside phosphate biosynthetic process organic cyclic compound metabolic process organic cyclic compound biosynthetic process organonitrogen compound metabolic process organonitrogen compound biosynthetic process organic substance biosynthetic process catalytic activity pyruvate dehydrogenase activity pyruvate dehydrogenase (acetyl-transferring) activity oxidoreductase activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, nad or nadp as acceptor oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor oxidoreductase activity, acting on the aldehyde or oxo group of donors pyruvate dehydrogenase [nad(p)+] activity pyruvate dehydrogenase (nad+) activity intracellular anatomical structure nucleus nucleolus cytoplasm mitochondrion mitochondrial matrix mitochondrial pyruvate dehydrogenase complex membrane-enclosed lumen nuclear lumen protein-containing complex organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen pyruvate dehydrogenase complex intracellular organelle lumen mitochondrial protein-containing complex cellular anatomical entity catalytic complex oxidoreductase complex carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism citrate cycle (tca cycle), and pyruvate metabolism regulation of pyruvate dehydrogenase (pdh) complex pyruvate dehydrogenase complex the citric acid (tca) cycle and respiratory electron transport metabolism signal transduction regulation of pyruvate dehydrogenase (pdh) complex glyoxylate metabolism and glycine degradation signaling by retinoic acid pyruvate metabolism metabolism of amino acids and derivatives pyruvate metabolism and citric acid (tca) cycle signaling by nuclear receptors tca cycle and deficiency of pyruvate dehydrogenase complex (pdhc) photodynamic therapy-induced hif-1 survival signaling amino acid metabolism lipid metabolism pathway pi3k/akt/mtor - vitamin d3 signaling hereditary leiomyomatosis and renal cell carcinoma pathway metabolic reprogramming in colon cancer thiamine metabolic pathways tca cycle in senescence neuroinflammation and glutamatergic signaling metabolic reprogramming in pancreatic cancer acetylcholine synthesis glycolysis and gluconeogenesis disease of metabolism carbohydrate metabolic disorder pyruvate decarboxylase deficiency leigh disease disease genetic disease inherited metabolic disorder mitochondrial metabolism disease tissues, cell types and enzyme sources animal reproductive system female reproductive system blood blood plasma blood platelet brain central nervous system head diencephalon digestive gland forebrain gland hematopoietic system hematopoietic cell leukocyte liver muscle squamous cell carcinoma cell thalamus nervous system muscular system endocrine gland whole body viscus urogenital system intracellular cytoplasm mitochondrion mitochondrial matrix mitochondrial pyruvate dehydrogenase complex membrane-enclosed lumen protein-containing complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen pyruvate dehydrogenase complex intracellular organelle lumen mitochondrial protein complex cellular anatomical entity catalytic complex oxidoreductase complex abnormality of body height abnormality of the kidney abnormality of the urinary system phenotypic abnormality abnormality of the genitourinary system abnormality of head or neck abnormality of the mouth abnormal lip morphology abnormal oral cavity morphology abnormal upper lip morphology abnormality of the head abnormality of skull size microcephaly abnormality of the face abnormality of the philtrum abnormality of the forehead long philtrum hearing abnormality hearing impairment abnormality of the nose abnormal nasal bridge morphology abnormal morphology of the nasal alae wide nasal bridge flared nostrils anteverted nares abnormality of the eye abnormal retinal morphology strabismus abnormality of eye movement abnormality of vision visual impairment ptosis abnormal conjugate eye movement pigmentary retinopathy abnormality of the optic nerve ophthalmoparesis abnormality of the ear ophthalmoplegia blindness nystagmus optic atrophy abnormality of the nervous system behavioral abnormality emotional lability abnormality of the skeletal system abnormal skull morphology abnormality of the skin single transverse palmar crease hypertrichosis abnormal palmar dermatoglyphics abnormal fundus morphology abnormality of the hand abnormality of prenatal development or birth intellectual disability seizure ataxia hypotonia lethargy spasticity spastic paraplegia dysarthria global developmental delay choreoathetosis abnormal corpus callosum morphology agenesis of corpus callosum hypertonia gait disturbance generalized hypotonia abnormal nervous system electrophysiology abnormal cerebellum morphology dystonia partial agenesis of the corpus callosum hyperreflexia flexion contracture growth abnormality failure to thrive growth delay intrauterine growth retardation small for gestational age abnormality of the integument abnormal hair morphology abnormality of the cardiovascular system abnormal heart morphology ventricular septal defect abnormal myocardium morphology cardiomyopathy hypertrophic cardiomyopathy abnormal cardiac septum morphology abnormal cardiac ventricle morphology abnormal foot morphology pes cavus abnormality of blood and blood-forming tissues abnormal erythrocyte morphology talipes anemia abnormality of metabolism/homeostasis acidosis abnormal facial shape frontal bossing morphological central nervous system abnormality gastroesophageal reflux cerebral atrophy abnormal cerebral morphology lower limb spasticity bilateral tonic-clonic seizure chorea progressive cerebellar ataxia hypoplasia of the corpus callosum abnormality of the respiratory system abnormal lung morphology pneumonia respiratory insufficiency recurrent aspiration pneumonia apnea abnormal cerebral ventricle morphology ventriculomegaly polymicrogyria episodic ataxia abnormal basal ganglia morphology increased serum lactate neurological speech impairment gliosis intellectual disability, profound abnormality of neuronal migration athetosis drowsiness cerebellar cyst leukoencephalopathy eeg abnormality leukodystrophy cerebellar malformation increased csf lactate upper motor neuron dysfunction abnormal cerebral white matter morphology abnormal periventricular white matter morphology hypsarrhythmia abnormal cortical gyration abnormal cerebral cortex morphology inability to walk neonatal respiratory distress abnormal calvaria morphology abnormality of the immune system recurrent infections abnormal pattern of respiration abnormal respiratory system physiology abnormality of the lower limb abnormality of the upper limb apneic episodes precipitated by illness, fatigue, stress abnormal cerebrospinal fluid morphology decreased activity of the pyruvate dehydrogenase complex aplasia/hypoplasia involving the central nervous system abnormality of the musculature abnormal circulating amino acid concentration lactic acidosis abnormality of mitochondrial metabolism hyperalaninemia disproportionate short stature increased serum pyruvate abnormality of connective tissue abnormal muscle tone involuntary movements short stature abnormality of body weight decreased body weight abnormal posterior eye segment morphology abnormal circulating carboxylic acid concentration abnormality of acid-base homeostasis abnormality of glycolysis reduced consciousness/confusion severe lactic acidosis congenital lactic acidosis chronic lactic acidosis abnormal nasal morphology abnormal nostril morphology positional foot deformity basal ganglia cysts lateral ventricle dilatation periventricular leukomalacia basal ganglia gliosis progressive spastic paraplegia focal t2 hyperintense basal ganglia lesion aplasia/hypoplasia of the cerebrum atrophy/degeneration affecting the central nervous system atrophy/degeneration affecting the cerebrum aplasia/hypoplasia of the corpus callosum abnormal dermatoglyphics reduced visual acuity abnormality of retinal pigmentation feeding difficulties in infancy disproportionate short-limb short stature decreased activity of mitochondrial respiratory chain abnormal axial skeleton morphology peripheral neuropathy abnormal ventricular septum morphology abnormality of the palmar creases weakness due to upper motor neuron dysfunction paraplegia paraplegia/paraparesis intracranial cystic lesion intellectual disability, severe abnormal circulating pyruvate family amino acid concentration abnormal circulating alanine concentration abnormality of the upper urinary tract abnormal external nose morphology abnormality of immune system physiology abnormal cerebral subcortex morphology abnormal circulating carbohydrate concentration abnormal cellular physiology abnormality of the gastrointestinal tract epileptic spasm abnormality of skin morphology abnormality of skin adnexa morphology interictal epileptiform activity eeg with focal epileptiform discharges eeg with focal spikes eeg with focal sharp waves eeg with generalized epileptiform discharges eeg with generalized sharp slow waves abnormal shape of the frontal region abnormal hindbrain morphology abnormal metencephalon morphology regional abnormality of skin abnormal hair quantity abnormal cns myelination abnormal central motor function abnormality of coordination abnormality of higher mental function abdominal symptom gastrostomy tube feeding in infancy abnormality of joint mobility abnormal muscle physiology abnormal skeletal muscle morphology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal activity of mitochondrial respiratory chain respiratory tract infection aspiration pneumonia feeding difficulties abnormality of the mitochondrion basal ganglia necrosis abnormal renal morphology abnormal respiratory system morphology abnormal homeostasis abnormal eye morphology abnormal eye physiology abnormality of brain morphology brain atrophy abnormal myelination chronic acidosis infantile spasms abnormal involuntary eye movements abnormal nervous system physiology abnormal nervous system morphology abnormal inflammatory response increased inflammatory response cerebellar gliosis functional abnormality of the gastrointestinal tract abnormal basal ganglia mri signal intensity neurodevelopmental delay neurodevelopmental abnormality abnormal optic disc morphology motor seizure abnormality of the digestive system abnormality of digestive system physiology abnormal esophagus physiology abnormal cellular phenotype obsolete psychomotor retardation abnormality of medullary pyramid morphology interictal eeg abnormality abnormal csf metabolite concentration abnormal lateral ventricle morphology abnormal csf lactate concentration abnormality of central nervous system electrophysiology abnormality of cardiovascular system morphology central nervous system cyst low apgar score impairment in personality functioning abnormal ear physiology abnormal oral morphology abnormal reflex unusual infection abnormal circulating metabolite concentration abnormal circulating proteinogenic amino acid derivative concentration abnormality of the musculoskeletal system tube feeding thin corpus callosum appendicular spasticity joint contracture abnormal joint physiology abnormality of limbs decreased head circumference abnormal skin morphology of the palm abnormality of movement abnormal tendon morphology cognitive impairment abnormal forebrain morphology abnormal glial cell morphology abnormal emotion/affect behavior abnormal palm morphology abnormal renal medulla morphology abnormal frontal bone morphology abnormal csf carboxylic acid concentration abnormal csf amino acid concentration abnormal csf pyruvate family amino acid concentration acetylation alternative splicing carbohydrate metabolism glucose metabolism leigh syndrome mitochondrion oxidoreductase phosphoprotein pyruvate thiamine pyrophosphate transit peptide tricarboxylic acid cycle primary mitochondrial disease dehydrogenase e1 component dehydrogenase, e1 component pyruvate dehydrogenase (acetyl-transferring) e1 component, alpha subunit, subgroup y thiamin diphosphate-binding fold carbohydrate metabolic process monosaccharide metabolic process glucose metabolic process organic acid metabolic process acetyl-coa metabolic process acetyl-coa biosynthetic process acetyl-coa biosynthetic process from pyruvate pyruvate metabolic process generation of precursor metabolites and energy tricarboxylic acid cycle nucleobase-containing compound metabolic process purine nucleotide metabolic process purine nucleotide biosynthetic process acyl-coa metabolic process cellular aromatic compound metabolic process nucleoside phosphate metabolic process sulfur compound metabolic process phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process metabolic process biosynthetic process aerobic respiration nucleotide metabolic process purine ribonucleotide metabolic process purine ribonucleotide biosynthetic process nucleotide biosynthetic process ribonucleotide metabolic process ribonucleotide biosynthetic process cellular process energy derivation by oxidation of organic compounds heterocycle biosynthetic process hexose metabolic process aromatic compound biosynthetic process organophosphate metabolic process ribose phosphate metabolic process carboxylic acid metabolic process monocarboxylic acid metabolic process nucleoside bisphosphate metabolic process nucleoside bisphosphate biosynthetic process ribonucleoside bisphosphate metabolic process ribonucleoside bisphosphate biosynthetic process purine nucleoside bisphosphate metabolic process purine nucleoside bisphosphate biosynthetic process cellular nitrogen compound metabolic process nucleobase-containing compound biosynthetic process thioester metabolic process thioester biosynthetic process oxoacid metabolic process cellular amide metabolic process amide biosynthetic process cellular metabolic process primary metabolic process cellular biosynthetic process cellular nitrogen compound biosynthetic process sulfur compound biosynthetic process small molecule metabolic process cellular respiration ribose phosphate biosynthetic process heterocycle metabolic process nucleobase-containing small molecule metabolic process acyl-coa biosynthetic process organic substance metabolic process purine-containing compound metabolic process purine-containing compound biosynthetic process organophosphate biosynthetic process carbohydrate derivative metabolic process carbohydrate derivative biosynthetic process nucleoside phosphate biosynthetic process organic cyclic compound metabolic process organic cyclic compound biosynthetic process organonitrogen compound metabolic process organonitrogen compound biosynthetic process organic substance biosynthetic process catalytic activity pyruvate dehydrogenase activity pyruvate dehydrogenase (acetyl-transferring) activity oxidoreductase activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, nad or nadp as acceptor oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor oxidoreductase activity, acting on the aldehyde or oxo group of donors pyruvate dehydrogenase [nad(p)+] activity pyruvate dehydrogenase (nad+) activity intracellular anatomical structure nucleus nucleolus cytoplasm mitochondrion mitochondrial matrix membrane-enclosed lumen nuclear lumen organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen intracellular organelle lumen cellular anatomical entity carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism citrate cycle (tca cycle), and pyruvate metabolism regulation of pyruvate dehydrogenase (pdh) complex glycolysis / gluconeogenesis citrate cycle (tca cycle) pyruvate metabolism metabolic pathways carbon metabolism hif-1 signaling pathway glucagon signaling pathway central carbon metabolism in cancer the citric acid (tca) cycle and respiratory electron transport metabolism signal transduction regulation of pyruvate dehydrogenase (pdh) complex glyoxylate metabolism and glycine degradation signaling by retinoic acid pyruvate metabolism metabolism of amino acids and derivatives pyruvate metabolism and citric acid (tca) cycle signaling by nuclear receptors hereditary leiomyomatosis and renal cell carcinoma pathway acetylcholine synthesis tissues, cell types and enzyme sources animal male reproductive gland reproductive system male reproductive system female reproductive system female reproductive gland gland gonad testis endocrine gland whole body urogenital system internal male genital organ intracellular cytoplasm mitochondrion mitochondrial matrix membrane-enclosed lumen organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen intracellular organelle lumen cellular anatomical entity carbohydrate metabolism glucose metabolism mitochondrion oxidoreductase phosphoprotein pyruvate thiamine pyrophosphate transit peptide tricarboxylic acid cycle dehydrogenase e1 component dehydrogenase, e1 component pyruvate dehydrogenase (acetyl-transferring) e1 component, alpha subunit, subgroup y thiamin diphosphate-binding fold carbohydrate metabolic process monosaccharide metabolic process glucose metabolic process organic acid metabolic process acetyl-coa metabolic process acetyl-coa biosynthetic process acetyl-coa biosynthetic process from pyruvate pyruvate metabolic process generation of precursor metabolites and energy tricarboxylic acid cycle nucleobase-containing compound metabolic process purine nucleotide metabolic process purine nucleotide biosynthetic process acyl-coa metabolic process cellular aromatic compound metabolic process nucleoside phosphate metabolic process sulfur compound metabolic process phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process metabolic process biosynthetic process aerobic respiration nucleotide metabolic process purine ribonucleotide metabolic process purine ribonucleotide biosynthetic process nucleotide biosynthetic process ribonucleotide metabolic process ribonucleotide biosynthetic process cellular process energy derivation by oxidation of organic compounds heterocycle biosynthetic process hexose metabolic process aromatic compound biosynthetic process organophosphate metabolic process ribose phosphate metabolic process carboxylic acid metabolic process monocarboxylic acid metabolic process nucleoside bisphosphate metabolic process nucleoside bisphosphate biosynthetic process ribonucleoside bisphosphate metabolic process ribonucleoside bisphosphate biosynthetic process purine nucleoside bisphosphate metabolic process purine nucleoside bisphosphate biosynthetic process cellular nitrogen compound metabolic process nucleobase-containing compound biosynthetic process thioester metabolic process thioester biosynthetic process oxoacid metabolic process cellular amide metabolic process amide biosynthetic process cellular metabolic process primary metabolic process cellular biosynthetic process cellular nitrogen compound biosynthetic process sulfur compound biosynthetic process small molecule metabolic process cellular respiration ribose phosphate biosynthetic process heterocycle metabolic process nucleobase-containing small molecule metabolic process mitochondrial acetyl-coa biosynthetic process from pyruvate acyl-coa biosynthetic process organic substance metabolic process purine-containing compound metabolic process purine-containing compound biosynthetic process organophosphate biosynthetic process carbohydrate derivative metabolic process carbohydrate derivative biosynthetic process nucleoside phosphate biosynthetic process organic cyclic compound metabolic process organic cyclic compound biosynthetic process organonitrogen compound metabolic process organonitrogen compound biosynthetic process organic substance biosynthetic process catalytic activity pyruvate dehydrogenase activity pyruvate dehydrogenase (acetyl-transferring) activity oxidoreductase activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor oxidoreductase activity, acting on the aldehyde or oxo group of donors intracellular anatomical structure nucleus nucleoplasm cytoplasm mitochondrion mitochondrial matrix mitochondrial pyruvate dehydrogenase complex membrane-enclosed lumen nuclear lumen protein-containing complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen pyruvate dehydrogenase complex intracellular organelle lumen mitochondrial protein-containing complex cellular anatomical entity catalytic complex oxidoreductase complex carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism citrate cycle (tca cycle), and pyruvate metabolism citrate cycle (tca cycle), and lactate dehydrogenase activity citrate cycle (tca cycle) dihydrolipoyl dehydrogenase complex glycolysis / gluconeogenesis citrate cycle (tca cycle) pyruvate metabolism metabolic pathways carbon metabolism hif-1 signaling pathway glucagon signaling pathway central carbon metabolism in cancer the citric acid (tca) cycle and respiratory electron transport metabolism signal transduction regulation of pyruvate dehydrogenase (pdh) complex glyoxylate metabolism and glycine degradation signaling by retinoic acid pyruvate metabolism metabolism of amino acids and derivatives pyruvate metabolism and citric acid (tca) cycle signaling by nuclear receptors hereditary leiomyomatosis and renal cell carcinoma pathway metabolic reprogramming in colon cancer metabolic reprogramming in pancreatic cancer disease of metabolism carbohydrate metabolic disorder pyruvate decarboxylase deficiency leigh disease disease genetic disease inherited metabolic disorder mitochondrial metabolism disease tissues, cell types and enzyme sources animal cardiovascular system brain respiratory system central nervous system cerebral hemisphere cerebral cortex telencephalon head digestive gland forebrain gland heart liver lung nervous system endocrine gland whole body viscus intracellular cytoplasm mitochondrion mitochondrial matrix mitochondrial pyruvate dehydrogenase complex membrane-enclosed lumen protein-containing complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen pyruvate dehydrogenase complex intracellular organelle lumen mitochondrial protein complex cellular anatomical entity catalytic complex oxidoreductase complex phenotypic abnormality abnormality of head or neck abnormality of the head abnormality of the face abnormality of the eye abnormality of eye movement abnormality of ocular smooth pursuit abnormality of the nervous system abnormality of the skeletal system abnormal skull morphology seizure ataxia hypotonia global developmental delay hyporeflexia abnormal corpus callosum morphology agenesis of corpus callosum generalized hypotonia pachygyria reduced tendon reflexes abnormal cerebellum morphology cerebellar hypoplasia lissencephaly growth abnormality growth delay intrauterine growth retardation abnormality of metabolism/homeostasis acidosis hyperammonemia abnormal facial shape morphological central nervous system abnormality abnormal cerebral morphology morphological abnormality of the pyramidal tract hypoplasia of the corpus callosum abnormal cerebral ventricle morphology ventriculomegaly azotemia abnormality of neuronal migration gray matter heterotopia leukoencephalopathy abnormal brainstem morphology hypoplasia of the brainstem morphological abnormality of the corticospinal tract abnormal cerebral white matter morphology abnormal periventricular white matter morphology abnormal cortical gyration abnormal cerebral cortex morphology obsolete abnormality of calvarial morphology decreased activity of the pyruvate dehydrogenase complex aplasia/hypoplasia involving the central nervous system abnormality of the musculature lactic acidosis abnormality of mitochondrial metabolism abnormal muscle tone abnormality of body weight decreased body weight abnormality of acid-base homeostasis abnormal circulating nitrogen compound concentration periventricular leukomalacia corticospinal tract hypoplasia periventricular cysts periventricular heterotopia aplasia/hypoplasia of the cerebellum aplasia/hypoplasia of the brainstem aplasia/hypoplasia of the cerebrum aplasia/hypoplasia involving the corticospinal tracts aplasia/hypoplasia of the corpus callosum impaired smooth pursuit abnormal axial skeleton morphology intracranial cystic lesion abnormal cerebral subcortex morphology abnormal cellular physiology abnormal hindbrain morphology abnormal metencephalon morphology abnormal central motor function abnormality of coordination abnormal muscle physiology abnormal skeletal morphology abnormality of the mitochondrion abnormal homeostasis abnormal eye physiology abnormality of brain morphology abnormal nervous system physiology abnormal nervous system morphology neurodevelopmental delay neurodevelopmental abnormality abnormal cellular phenotype central nervous system cyst abnormal reflex abnormal circulating metabolite concentration abnormality of the musculoskeletal system thin corpus callosum abnormality of movement abnormal forebrain morphology abnormal length of corpus callosum short corpus callosum acetylation alternative splicing carbohydrate metabolism glucose metabolism mitochondrion oxidoreductase phosphoprotein pyruvate thiamine pyrophosphate transit peptide tricarboxylic acid cycle transketolase, c-terminal domain transketolase-like, pyrimidine-binding domain transketolase c-terminal/pyruvate-ferredoxin oxidoreductase domain ii pyruvate dehydrogenase e1 component subunit beta thiamin diphosphate-binding fold transketolase, c-terminal domain transketolase, pyrimidine binding domain response to hypoxia carbohydrate metabolic process monosaccharide metabolic process glucose metabolic process regulation of carbohydrate metabolic process regulation of nucleotide metabolic process protein phosphorylation phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process apoptotic process response to stress response to oxidative stress cell communication signal transduction metabolic process cell death cell population proliferation intrinsic apoptotic signaling pathway in response to oxidative stress response to abiotic stimulus regulation of biosynthetic process cellular process regulation of acetyl-coa biosynthetic process from pyruvate regulation of cellular ketone metabolic process regulation of cellular carbohydrate metabolic process regulation of glucose metabolic process programmed cell death phosphorylation regulation of lipid metabolic process regulation of fatty acid metabolic process regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process hexose metabolic process protein metabolic process signaling regulation of nucleotide biosynthetic process regulation of cellular metabolic process regulation of cellular biosynthetic process cellular response to stress regulation of cellular amide metabolic process cellular response to oxidative stress intracellular signal transduction protein modification process response to decreased oxygen levels cellular response to decreased oxygen levels cell death in response to oxidative stress response to chemical regulation of sulfur metabolic process macromolecule metabolic process macromolecule modification cellular metabolic process primary metabolic process small molecule metabolic process regulation of biological process regulation of cellular process regulation of acyl-coa biosynthetic process response to stimulus regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process cellular response to stimulus regulation of small molecule metabolic process cellular response to chemical stress biological regulation response to oxygen levels cellular response to chemical stimulus cellular response to oxygen levels cellular response to hypoxia organic substance metabolic process regulation of primary metabolic process apoptotic signaling pathway intrinsic apoptotic signaling pathway hypoxia-inducible factor-1alpha signaling pathway regulation of purine nucleotide biosynthetic process regulation of purine nucleotide metabolic process organonitrogen compound metabolic process nucleotide binding catalytic activity protein kinase activity pyruvate dehydrogenase (acetyl-transferring) kinase activity binding atp binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding ion binding anion binding organic cyclic compound binding carbohydrate derivative binding catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding intracellular anatomical structure cytoplasm mitochondrion mitochondrial matrix mitochondrial pyruvate dehydrogenase complex membrane-enclosed lumen protein-containing complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen pyruvate dehydrogenase complex intracellular organelle lumen mitochondrial protein-containing complex cellular anatomical entity catalytic complex oxidoreductase complex carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism citrate cycle (tca cycle), and pyruvate metabolism regulation of pyruvate dehydrogenase (pdh) complex pyruvate dehydrogenase complex hif-1 signaling pathway axon guidance central carbon metabolism in cancer the citric acid (tca) cycle and respiratory electron transport metabolism signal transduction regulation of pyruvate dehydrogenase (pdh) complex signaling by retinoic acid pyruvate metabolism pyruvate metabolism and citric acid (tca) cycle signaling by nuclear receptors t cell receptor and co-stimulatory signaling tgf-beta signaling pathway pi3k-akt-mtor signaling pathway and therapeutic opportunities factors and pathways affecting insulin-like growth factor (igf1)-akt signaling t-cell antigen receptor (tcr) pathway during staphylococcus aureus infection hereditary leiomyomatosis and renal cell carcinoma pathway non-small cell lung cancer fragile x syndrome translation inhibitors in chronically activated pdgfra cells aspirin and mirnas pkc-gamma calcium signaling pathway in ataxia kisspeptin/kisspeptin receptor system in the ovary tca cycle in senescence malignant pleural mesothelioma resolvin e1 and resolvin d1 signaling pathways promoting inflammation resolution glucose metabolism in triple-negative breast cancer cells epo receptor signaling dna damage response (only atm dependent) tissues, cell types and enzyme sources animal gland integument skin endocrine gland whole body intracellular cytoplasm mitochondrion mitochondrial matrix mitochondrial pyruvate dehydrogenase complex membrane-enclosed lumen protein-containing complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen pyruvate dehydrogenase complex intracellular organelle lumen mitochondrial protein complex cellular anatomical entity catalytic complex oxidoreductase complex alternative splicing atp-binding carbohydrate metabolism glucose metabolism kinase mitochondrion nucleotide-binding phosphoprotein transferase transit peptide mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase histidine kinase/hsp90-like atpase histidine kinase domain branched-chain alpha-ketoacid dehydrogenase kinase/pyruvate dehydrogenase kinase, n-terminal alpha-ketoacid/pyruvate dehydrogenase kinase, n-terminal domain superfamily histidine kinase/hsp90-like atpase superfamily pdk/bckdk protein kinase histidine kinase-like atpases regulation of peptide secretion negative regulation of peptide secretion carbohydrate metabolic process monosaccharide metabolic process fructose 6-phosphate metabolic process glucose metabolic process glucose catabolic process organic acid metabolic process pyruvate metabolic process generation of precursor metabolites and energy glycolytic process nucleobase-containing compound metabolic process purine nucleotide metabolic process nucleoside diphosphate phosphorylation cellular aromatic compound metabolic process nadh metabolic process nadh regeneration nucleoside phosphate metabolic process atp generation from adp phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process metabolic process catabolic process nucleotide metabolic process nucleoside diphosphate metabolic process purine nucleoside diphosphate metabolic process nucleoside triphosphate metabolic process purine nucleoside triphosphate metabolic process purine ribonucleotide metabolic process purine ribonucleoside diphosphate metabolic process ribonucleoside diphosphate metabolic process ribonucleoside triphosphate metabolic process purine ribonucleoside triphosphate metabolic process ribonucleotide metabolic process response to carbohydrate response to hexose response to glucose cellular process response to organic substance regulation of cell communication negative regulation of cell communication regulation of hormone levels carbohydrate catabolic process phosphorylation hexose metabolic process hexose catabolic process organophosphate metabolic process nad metabolic process ribose phosphate metabolic process carboxylic acid metabolic process regulation of signaling negative regulation of signaling fructose 1,6-bisphosphate metabolic process monocarboxylic acid metabolic process regulation of localization regulation of protein localization response to monosaccharide cellular nitrogen compound metabolic process response to chemical oxoacid metabolic process cellular metabolic process primary metabolic process cellular carbohydrate metabolic process small molecule metabolic process small molecule catabolic process adp metabolic process atp metabolic process monosaccharide catabolic process heterocycle metabolic process negative regulation of insulin secretion carbohydrate phosphorylation regulation of hormone secretion negative regulation of hormone secretion nucleotide phosphorylation negative regulation of biological process negative regulation of cellular process regulation of protein secretion negative regulation of protein secretion regulation of biological process regulation of cellular process regulation of insulin secretion response to stimulus regulation of secretion negative regulation of secretion regulation of transport negative regulation of transport regulation of protein transport negative regulation of protein transport nucleobase-containing small molecule metabolic process regulation of cellular localization glycolytic process through fructose-6-phosphate glycolytic process through glucose-6-phosphate canonical glycolysis glucose catabolic process to pyruvate biological regulation regulation of biological quality regulation of establishment of protein localization organic substance metabolic process purine-containing compound metabolic process regulation of peptide transport regulation of peptide hormone secretion negative regulation of peptide hormone secretion carbohydrate derivative metabolic process organic cyclic compound metabolic process organonitrogen compound metabolic process organic substance catabolic process response to oxygen-containing compound regulation of secretion by cell negative regulation of secretion by cell negative regulation of protein localization negative regulation of establishment of protein localization nucleotide binding catalytic activity 6-phosphofructokinase activity binding protein binding atp binding phosphofructokinase activity amp binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding carbohydrate kinase activity enzyme binding kinase binding carbohydrate binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding identical protein binding ion binding anion binding cation binding metal ion binding monosaccharide binding fructose binding fructose-6-phosphate binding organic cyclic compound binding carbohydrate derivative binding nucleoside phosphate binding heterocyclic compound binding extracellular region extracellular space intracellular anatomical structure cytoplasm cytosol 6-phosphofructokinase complex endomembrane system membrane secretory granule cytoplasmic vesicle membrane-enclosed lumen vesicle vesicle lumen protein-containing complex secretory granule lumen organelle membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle organelle lumen cytoplasmic vesicle lumen transferase complex, transferring phosphorus-containing groups extracellular membrane-bounded organelle intracellular organelle lumen extracellular exosome intracellular vesicle secretory vesicle ficolin-1-rich granule cellular anatomical entity catalytic complex extracellular vesicle ficolin-1-rich granule lumen transferase complex carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism glycolysis, and pentose-phosphate shunt glycolysis, and sugar-phosphatase activity fructose and mannose metabolism fructose 1,6-bisphosphate metabolic process, and transketolase or transaldolase activity glycolysis / gluconeogenesis pentose phosphate pathway fructose and mannose metabolism galactose metabolism metabolic pathways carbon metabolism biosynthesis of amino acids rna degradation hif-1 signaling pathway ampk signaling pathway thyroid hormone signaling pathway glucagon signaling pathway central carbon metabolism in cancer metabolism innate immune system immune system neutrophil degranulation glycolysis glucose metabolism metabolism of carbohydrates photodynamic therapy-induced hif-1 survival signaling clear cell renal cell carcinoma pathways metabolic reprogramming in colon cancer insulin signaling disorders of fructose metabolism metabolic reprogramming in pancreatic cancer glycolysis and gluconeogenesis tissues, cell types and enzyme sources animal reproductive system female reproductive system blood blood plasma blood platelet respiratory system digestive gland excretory gland gland hematopoietic system kidney liver lung muscle prostate gland cell line prostate cancer cell line urinary tract muscular system endocrine gland whole body viscus urogenital system urinary system intracellular cytoplasm cytosol 6-phosphofructokinase complex endomembrane system secretory granule cytoplasmic vesicle membrane-enclosed lumen vesicle protein-containing complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen transferase complex, transferring phosphorus-containing groups intracellular organelle lumen intracellular vesicle secretory vesicle ficolin-1-rich granule cellular anatomical entity catalytic complex ficolin-1-rich granule lumen transferase complex hematocrit glucose measurement hematological measurement hemoglobin measurement hba1c measurement glycoprotein measurement protein measurement diabetes mellitus biomarker acetylation allosteric enzyme alternative splicing atp-binding glycolysis glycoprotein kinase magnesium metal-binding nucleotide-binding phosphoprotein transferase cytoplasm phosphofructokinase phosphofructokinase domain atp-dependent 6-phosphofructokinase, eukaryotic-type phosphofructokinase, conserved site atp-dependent 6-phosphofructokinase phosphofructokinase superfamily atp-dependent 6-phosphofructokinase, vertebrate-type polysaccharide catabolic process regulation of peptide secretion positive regulation of peptide secretion carbohydrate metabolic process polysaccharide metabolic process glycogen metabolic process glycogen catabolic process monosaccharide metabolic process fructose 6-phosphate metabolic process glucose metabolic process glucose catabolic process cellular glucan metabolic process organic acid metabolic process pyruvate metabolic process generation of precursor metabolites and energy glycolytic process energy reserve metabolic process nucleobase-containing compound metabolic process purine nucleotide metabolic process nucleoside diphosphate phosphorylation regulation of transcription, dna-templated regulation of transcription by rna polymerase ii cellular aromatic compound metabolic process nadh metabolic process nadh regeneration nucleoside phosphate metabolic process atp generation from adp phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process metabolic process catabolic process macromolecule catabolic process nucleotide metabolic process nucleoside diphosphate metabolic process purine nucleoside diphosphate metabolic process nucleoside triphosphate metabolic process purine nucleoside triphosphate metabolic process purine ribonucleotide metabolic process purine ribonucleoside diphosphate metabolic process ribonucleoside diphosphate metabolic process ribonucleoside triphosphate metabolic process purine ribonucleoside triphosphate metabolic process glucan catabolic process ribonucleotide metabolic process regulation of biosynthetic process positive regulation of biosynthetic process positive regulation of metabolic process cellular process regulation of gene expression regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process positive regulation of macromolecule metabolic process regulation of cell communication positive regulation of cell communication regulation of hormone levels energy derivation by oxidation of organic compounds carbohydrate catabolic process phosphorylation regulation of nucleobase-containing compound metabolic process regulation of metabolic process hexose metabolic process hexose catabolic process organophosphate metabolic process nad metabolic process ribose phosphate metabolic process cellular homeostasis carboxylic acid metabolic process regulation of signaling positive regulation of signaling fructose 1,6-bisphosphate metabolic process regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process positive regulation of insulin secretion monocarboxylic acid metabolic process regulation of localization regulation of protein localization carbohydrate homeostasis cellular nitrogen compound metabolic process homeostatic process glucose homeostasis macromolecule metabolic process oxoacid metabolic process glucan metabolic process cellular metabolic process primary metabolic process cellular polysaccharide catabolic process cellular catabolic process cellular macromolecule metabolic process cellular carbohydrate metabolic process cellular polysaccharide metabolic process cellular carbohydrate catabolic process small molecule metabolic process small molecule catabolic process positive regulation of transcription, dna-templated positive regulation of nucleobase-containing compound metabolic process positive regulation of transcription by rna polymerase ii adp metabolic process atp metabolic process monosaccharide catabolic process heterocycle metabolic process muscle cell cellular homeostasis carbohydrate phosphorylation regulation of hormone secretion positive regulation of hormone secretion nucleotide phosphorylation positive regulation of biological process positive regulation of cellular process chemical homeostasis regulation of protein secretion positive regulation of protein secretion regulation of biological process regulation of cellular process regulation of insulin secretion regulation of secretion positive regulation of secretion regulation of transport positive regulation of transport regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process positive regulation of protein transport regulation of protein transport regulation of rna metabolic process positive regulation of rna metabolic process nucleobase-containing small molecule metabolic process anatomical structure homeostasis regulation of macromolecule metabolic process regulation of cellular localization glycolytic process through fructose-6-phosphate glycolytic process through glucose-6-phosphate canonical glycolysis glycolytic process through glucose-1-phosphate glucose catabolic process to pyruvate biological regulation regulation of biological quality regulation of establishment of protein localization organic substance metabolic process purine-containing compound metabolic process regulation of primary metabolic process regulation of peptide transport regulation of peptide hormone secretion positive regulation of peptide hormone secretion glycolysis from storage polysaccharide through glucose-1-phosphate carbohydrate derivative metabolic process organic cyclic compound metabolic process organonitrogen compound metabolic process organic substance catabolic process positive regulation of rna biosynthetic process regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription regulation of secretion by cell positive regulation of secretion by cell positive regulation of protein localization positive regulation of establishment of protein localization regulation of rna biosynthetic process nucleotide binding catalytic activity 6-phosphofructokinase activity binding protein binding atp binding protein c-terminus binding phosphofructokinase activity amp binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding carbohydrate kinase activity enzyme binding kinase binding carbohydrate binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding identical protein binding ion binding anion binding cation binding metal ion binding monosaccharide binding fructose binding fructose-6-phosphate binding organic cyclic compound binding carbohydrate derivative binding nucleoside phosphate binding heterocyclic compound binding intracellular anatomical structure nucleus cytoplasm cytosol plasma membrane cilium 6-phosphofructokinase complex membrane apical plasma membrane motile cilium protein-containing complex sperm flagellum cell projection organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle apical part of cell transferase complex, transferring phosphorus-containing groups cell periphery sperm principal piece 9+2 motile cilium plasma membrane region cellular anatomical entity plasma membrane bounded cell projection catalytic complex transferase complex carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism glycolysis, and pentose-phosphate shunt glycolysis, and sugar-phosphatase activity fructose and mannose metabolism fructose 2,6-bisphosphate metabolic process, and glycogen storage disease vii glycolysis / gluconeogenesis pentose phosphate pathway fructose and mannose metabolism galactose metabolism metabolic pathways carbon metabolism biosynthesis of amino acids rna degradation hif-1 signaling pathway ampk signaling pathway thyroid hormone signaling pathway glucagon signaling pathway central carbon metabolism in cancer metabolism glycolysis glucose metabolism metabolism of carbohydrates clear cell renal cell carcinoma pathways aerobic glycolysis insulin signaling glycolysis and gluconeogenesis disease of metabolism glycogen metabolism disorder glycogen storage disease vii glycogen storage disease carbohydrate metabolic disorder disease genetic disease inherited metabolic disorder tissues, cell types and enzyme sources animal male reproductive gland reproductive system male reproductive system female reproductive system cardiovascular system brain central nervous system female reproductive gland head gland heart hematopoietic system hepatoma cell line blood cancer cell lymphoid tissue heart ventricle muscle leukemia cell thorax thymus nervous system muscular system endocrine gland whole body trunk left ventricle as-30d cell urogenital system immune system intracellular cytoplasm cytosol plasma membrane 6-phosphofructokinase complex pyrophosphate-dependent phosphofructokinase complex membrane apical plasma membrane protein-containing complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle apical part of cell transferase complex, transferring phosphorus-containing groups cell periphery plasma membrane region cellular anatomical entity catalytic complex transferase complex temporal measurement cognition cardiovascular measurement longevity erythrocyte count erythrocyte indices mental process hematocrit glucose measurement hematological measurement hemoglobin measurement mean corpuscular volume mean corpuscular hemoglobin concentration hba1c measurement glycoprotein measurement complete blood cell count protein measurement mathematical ability erythrocyte measurement amino acid measurement cardiovascular disease biomarker measurement smoking behaviour measurement pulse pressure measurement smoking status measurement diabetes mellitus biomarker red blood cell density measurement reticulocyte count histidine measurement reticulocyte measurement abnormality of the urinary system phenotypic abnormality abnormality of the genitourinary system abnormality of the skeletal system abnormality of the skin jaundice dermatological manifestations of systemic disorders cholelithiasis muscle weakness abnormal joint morphology arthritis abnormality of the liver cholestasis abnormality of the integument abnormality of blood and blood-forming tissues abnormal erythrocyte morphology hemolytic anemia anemia reticulocytosis abnormality of metabolism/homeostasis gout abnormality of the abdominal organs hyperuricemia azotemia myotonia hyperbilirubinemia myoglobinuria abnormality of the musculature abnormality of urine homeostasis skeletal muscle atrophy muscle spasm exercise intolerance increased total bilirubin exercise-induced muscle cramps abnormality of the biliary system abnormal reticulocyte morphology abnormal circulating carboxylic acid concentration abnormal circulating nitrogen compound concentration abnormality of the gallbladder exercise-induced myoglobinuria increased muscle glycogen content abnormal circulating nucleobase concentration abnormal circulating dicarboxylic acid concentration abnormality of skin morphology abnormality of the urinary system physiology generalized abnormality of skin abnormal muscle physiology abnormal skeletal muscle morphology abnormal skeletal morphology anemia due to reduced life span of red cells abnormal muscle glycogen content abnormal gallbladder morphology abnormality of the digestive system constitutional symptom abnormality of muscle size reduced erythrocyte 2,3-diphosphoglycerate concentration abnormal circulating metabolite concentration abnormal tissue metabolite concentration abnormality of the musculoskeletal system abnormal urine metabolite level abnormal circulating bilirubin concentration abnormal muscle tissue metabolite concentration acetylation allosteric enzyme alternative splicing atp-binding glycogen storage disease glycolysis glycoprotein hydroxylation kinase magnesium metal-binding nucleotide-binding phosphoprotein transferase cytoplasm phosphofructokinase phosphofructokinase domain atp-dependent 6-phosphofructokinase, eukaryotic-type phosphofructokinase, conserved site atp-dependent 6-phosphofructokinase phosphofructokinase superfamily atp-dependent 6-phosphofructokinase, vertebrate-type carbohydrate metabolic process monosaccharide metabolic process fructose 6-phosphate metabolic process glucose metabolic process glucose catabolic process organic acid metabolic process pyruvate metabolic process generation of precursor metabolites and energy glycolytic process nucleobase-containing compound metabolic process purine nucleotide metabolic process nucleoside diphosphate phosphorylation cellular aromatic compound metabolic process nadh metabolic process nadh regeneration nucleoside phosphate metabolic process atp generation from adp phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process metabolic process catabolic process nucleotide metabolic process nucleoside diphosphate metabolic process purine nucleoside diphosphate metabolic process nucleoside triphosphate metabolic process purine nucleoside triphosphate metabolic process purine ribonucleotide metabolic process purine ribonucleoside diphosphate metabolic process ribonucleoside diphosphate metabolic process ribonucleoside triphosphate metabolic process purine ribonucleoside triphosphate metabolic process ribonucleotide metabolic process cellular process response to organic substance carbohydrate catabolic process phosphorylation hexose metabolic process hexose catabolic process organophosphate metabolic process nad metabolic process ribose phosphate metabolic process carboxylic acid metabolic process fructose 1,6-bisphosphate metabolic process monocarboxylic acid metabolic process response to cytokine cellular nitrogen compound metabolic process response to chemical oxoacid metabolic process cellular metabolic process primary metabolic process cellular carbohydrate metabolic process small molecule metabolic process small molecule catabolic process adp metabolic process atp metabolic process monosaccharide catabolic process heterocycle metabolic process carbohydrate phosphorylation nucleotide phosphorylation response to stimulus cellular response to stimulus nucleobase-containing small molecule metabolic process glycolytic process through fructose-6-phosphate glycolytic process through glucose-6-phosphate canonical glycolysis glucose catabolic process to pyruvate cellular response to chemical stimulus cellular response to organic substance cellular response to cytokine stimulus organic substance metabolic process purine-containing compound metabolic process carbohydrate derivative metabolic process organic cyclic compound metabolic process organonitrogen compound metabolic process organic substance catabolic process response to leukemia inhibitory factor cellular response to leukemia inhibitory factor nucleotide binding catalytic activity 6-phosphofructokinase activity binding protein binding atp binding phosphofructokinase activity amp binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding carbohydrate kinase activity carbohydrate binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding identical protein binding ion binding anion binding cation binding protein-containing complex binding cadherin binding metal ion binding monosaccharide binding cell adhesion molecule binding fructose-6-phosphate binding organic cyclic compound binding carbohydrate derivative binding nucleoside phosphate binding heterocyclic compound binding extracellular region extracellular space intracellular anatomical structure nucleus cytoplasm cytosol 6-phosphofructokinase complex membrane vesicle protein-containing complex organelle membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle transferase complex, transferring phosphorus-containing groups extracellular membrane-bounded organelle extracellular exosome cellular anatomical entity catalytic complex extracellular vesicle transferase complex carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism glycolysis, and pentose-phosphate shunt glycolysis, and sugar-phosphatase activity fructose and mannose metabolism glycolysis / gluconeogenesis pentose phosphate pathway fructose and mannose metabolism galactose metabolism metabolic pathways carbon metabolism biosynthesis of amino acids rna degradation hif-1 signaling pathway ampk signaling pathway thyroid hormone signaling pathway glucagon signaling pathway central carbon metabolism in cancer metabolism glycolysis glucose metabolism metabolism of carbohydrates cori cycle clear cell renal cell carcinoma pathways glucose metabolism in triple-negative breast cancer cells glycolysis and gluconeogenesis disease of metabolism glycogen metabolism disorder glycogen storage disease vii glycogen storage disease carbohydrate metabolic disorder disease genetic disease inherited metabolic disorder tissues, cell types and enzyme sources animal male reproductive gland reproductive system male reproductive system female reproductive system blood brain embryonic structure central nervous system female reproductive gland head organism form digestive gland epithelium fetus gland gonad hematopoietic system hematopoietic cell blood cancer cell integument endocrine pancreas leukocyte lymphoid tissue lymphoblast lymphocyte pancreas pancreatic islet placenta lymphoid cell prostate gland leukemia cell testis nervous system endocrine gland whole body viscus urogenital system internal male genital organ internal female genital organ immune system intracellular cytoplasm cytosol 6-phosphofructokinase complex protein-containing complex transferase complex, transferring phosphorus-containing groups cellular anatomical entity catalytic complex transferase complex glucose measurement hematological measurement hemoglobin measurement hba1c measurement glycoprotein measurement mean platelet volume eye measurement protein measurement platelet measurement respiratory disease biomarker diabetes mellitus biomarker autoimmune disease biomarker airway imaging measurement facial morphology measurement eye morphology measurement upper face morphology measurement acetylation allosteric enzyme alternative splicing atp-binding glycolysis glycoprotein kinase magnesium metal-binding nucleotide-binding phosphoprotein transferase cytoplasm phosphofructokinase phosphofructokinase domain atp-dependent 6-phosphofructokinase, eukaryotic-type phosphofructokinase, conserved site atp-dependent 6-phosphofructokinase phosphofructokinase superfamily atp-dependent 6-phosphofructokinase, vertebrate-type carbohydrate metabolic process organic acid metabolic process pyruvate metabolic process generation of precursor metabolites and energy glycolytic process regulation of carbohydrate metabolic process regulation of glycolytic process nucleobase-containing compound metabolic process regulation of nucleotide metabolic process purine nucleotide metabolic process nucleoside diphosphate phosphorylation cellular aromatic compound metabolic process nucleoside phosphate metabolic process atp generation from adp phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process metabolic process catabolic process nucleotide metabolic process nucleoside diphosphate metabolic process purine nucleoside diphosphate metabolic process nucleoside triphosphate metabolic process purine nucleoside triphosphate metabolic process purine ribonucleotide metabolic process purine ribonucleoside diphosphate metabolic process ribonucleoside diphosphate metabolic process ribonucleoside triphosphate metabolic process purine ribonucleoside triphosphate metabolic process ribonucleotide metabolic process regulation of catabolic process cellular process regulation of cellular carbohydrate metabolic process carbohydrate catabolic process phosphorylation regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process organophosphate metabolic process ribose phosphate metabolic process carboxylic acid metabolic process regulation of cellular metabolic process regulation of cellular catabolic process monocarboxylic acid metabolic process regulation of cellular amide metabolic process cellular nitrogen compound metabolic process regulation of phosphorylation oxoacid metabolic process regulation of pentose-phosphate shunt regulation of generation of precursor metabolites and energy regulation of carbohydrate catabolic process regulation of cellular carbohydrate catabolic process cellular metabolic process primary metabolic process small molecule metabolic process respiratory burst adp metabolic process atp metabolic process heterocycle metabolic process nucleotide phosphorylation regulation of biological process regulation of cellular process regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process nucleobase-containing small molecule metabolic process regulation of macromolecule metabolic process regulation of small molecule metabolic process biological regulation organic substance metabolic process purine-containing compound metabolic process regulation of primary metabolic process regulation of purine nucleotide metabolic process carbohydrate derivative metabolic process organic cyclic compound metabolic process organonitrogen compound metabolic process organic substance catabolic process regulation of nadp metabolic process regulation of atp metabolic process catalytic activity bisphosphoglycerate mutase activity phosphoglycerate mutase activity binding protein binding hydrolase activity isomerase activity intramolecular transferase activity intramolecular transferase activity, phosphotransferases enzyme binding kinase binding protein kinase binding 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity extracellular region extracellular space intracellular anatomical structure cytoplasm cytosol endomembrane system membrane secretory granule cytoplasmic vesicle membrane-enclosed lumen vesicle vesicle lumen secretory granule lumen organelle membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle organelle lumen cytoplasmic vesicle lumen extracellular membrane-bounded organelle intracellular organelle lumen extracellular exosome intracellular vesicle secretory vesicle ficolin-1-rich granule cellular anatomical entity extracellular vesicle ficolin-1-rich granule lumen carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism glycolysis, and pentose-phosphate shunt glycolysis, and sugar-phosphatase activity phosphoglycerate mutase 1, and enolase, conserved site phosphoglycerate kinase, and aerobic glycolysis glycolysis / gluconeogenesis glycine, serine and threonine metabolism metabolic pathways carbon metabolism biosynthesis of amino acids glucagon signaling pathway central carbon metabolism in cancer metabolism innate immune system immune system neutrophil degranulation glycolysis gluconeogenesis glucose metabolism metabolism of carbohydrates cori cycle metabolic reprogramming in colon cancer glycolysis and gluconeogenesis tissues, cell types and enzyme sources animal alimentary canal male reproductive gland reproductive system male reproductive system female reproductive system blood brain breast cancer cell embryonic structure carcinoma cell sense organ respiratory system central nervous system female reproductive gland brain cell line head organism form digestive gland epithelioma cell connective tissue excretory gland eye fetus gastrointestinal tract gland hematopoietic system blood cancer cell adenocarcinoma cell integument intestine kidney liver lung lymph pancreas placenta prostate gland urinary tract skin leukemia cell uterus nervous system endocrine gland whole body viscus urogenital system urinary system internal male genital organ internal female genital organ interstitial cell of cajal interstitial cell intracellular cytoplasm cytosol endomembrane system secretory granule cytoplasmic vesicle membrane-enclosed lumen vesicle organelle membrane-bounded organelle intracellular organelle organelle lumen intracellular organelle lumen intracellular vesicle secretory vesicle ficolin-1-rich granule cellular anatomical entity ficolin-1-rich granule lumen acetylation glycolysis hydrolase isomerase phosphoprotein phosphoglycerate/bisphosphoglycerate mutase, active site phosphoglycerate mutase 1 histidine phosphatase superfamily, clade-1 histidine phosphatase superfamily phosphoglycerate mutase family reproduction developmental process involved in reproduction system process muscle system process carbohydrate metabolic process monosaccharide metabolic process glucose metabolic process glucose catabolic process organic acid metabolic process pyruvate metabolic process generation of precursor metabolites and energy gluconeogenesis glycolytic process nucleobase-containing compound metabolic process purine nucleotide metabolic process nucleoside diphosphate phosphorylation cellular aromatic compound metabolic process nadh metabolic process nadh regeneration nucleoside phosphate metabolic process atp generation from adp phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process muscle contraction striated muscle contraction cell communication signal transduction cell surface receptor signaling pathway notch signaling pathway gamete generation spermatogenesis metabolic process catabolic process biosynthetic process nucleotide metabolic process nucleoside diphosphate metabolic process purine nucleoside diphosphate metabolic process nucleoside triphosphate metabolic process purine nucleoside triphosphate metabolic process purine ribonucleotide metabolic process purine ribonucleoside diphosphate metabolic process ribonucleoside diphosphate metabolic process ribonucleoside triphosphate metabolic process purine ribonucleoside triphosphate metabolic process ribonucleotide metabolic process cellular process response to inorganic substance response to metal ion carbohydrate biosynthetic process carbohydrate catabolic process phosphorylation hexose metabolic process hexose biosynthetic process hexose catabolic process organophosphate metabolic process nad metabolic process ribose phosphate metabolic process carboxylic acid metabolic process sexual reproduction reproductive process signaling multicellular organismal process developmental process multicellular organism reproduction monocarboxylic acid metabolic process cellular nitrogen compound metabolic process response to chemical oxoacid metabolic process cellular metabolic process primary metabolic process small molecule metabolic process small molecule catabolic process small molecule biosynthetic process adp metabolic process atp metabolic process monosaccharide biosynthetic process monosaccharide catabolic process heterocycle metabolic process response to mercury ion nucleotide phosphorylation male gamete generation multicellular organismal reproductive process regulation of biological process regulation of cellular process response to stimulus cellular response to stimulus nucleobase-containing small molecule metabolic process glycolytic process through fructose-6-phosphate glycolytic process through glucose-6-phosphate canonical glycolysis glucose catabolic process to pyruvate biological regulation organic substance metabolic process purine-containing compound metabolic process carbohydrate derivative metabolic process organic cyclic compound metabolic process organonitrogen compound metabolic process organic substance catabolic process organic substance biosynthetic process catalytic activity bisphosphoglycerate mutase activity phosphoglycerate mutase activity binding protein binding hydrolase activity isomerase activity intramolecular transferase activity intramolecular transferase activity, phosphotransferases identical protein binding 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity extracellular region extracellular space intracellular anatomical structure nucleus cytoplasm cytosol vesicle organelle membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle extracellular membrane-bounded organelle extracellular exosome cellular anatomical entity extracellular vesicle carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism glycolysis, and pentose-phosphate shunt glycolysis, and sugar-phosphatase activity phosphoglycerate mutase 1, and enolase, conserved site glycolysis / gluconeogenesis glycine, serine and threonine metabolism metabolic pathways carbon metabolism biosynthesis of amino acids glucagon signaling pathway central carbon metabolism in cancer metabolism glycolysis gluconeogenesis glucose metabolism metabolism of carbohydrates aerobic glycolysis glycolysis and gluconeogenesis disease of metabolism glycogen metabolism disorder glycogen storage disease carbohydrate metabolic disorder disease genetic disease inherited metabolic disorder tissues, cell types and enzyme sources animal cardiovascular system heart heart ventricle muscle atrium skeletal muscle vertebrate muscular system muscular system skeletal system whole body left ventricle left atrium right atrium intracellular cytoplasm cytosol cellular anatomical entity abnormality of the kidney abnormality of the urinary system renal insufficiency phenotypic abnormality abnormality of the genitourinary system abnormality of metabolism/homeostasis myoglobinuria abnormality of the musculature abnormality of urine homeostasis myopathy rhabdomyolysis elevated circulating creatine kinase concentration myalgia muscle spasm exercise intolerance exercise-induced muscle cramps exercise-induced myalgia abnormal circulating nitrogen compound concentration abnormal circulating protein concentration abnormality of the upper urinary tract abnormality of circulating enzyme level abnormality of the urinary system physiology abnormal muscle physiology abnormal skeletal muscle morphology abnormal renal physiology pain constitutional symptom abnormal circulating metabolite concentration abnormality of the musculoskeletal system abnormal urine metabolite level abnormal circulating creatine kinase concentration glycogen storage disease glycolysis hydrolase isomerase phosphoprotein phosphoglycerate/bisphosphoglycerate mutase, active site phosphoglycerate mutase 1 histidine phosphatase superfamily, clade-1 histidine phosphatase superfamily phosphoglycerate mutase family regulation of cilium movement positive regulation of cilium movement carbohydrate metabolic process organic acid metabolic process pyruvate metabolic process generation of precursor metabolites and energy glycolytic process nucleobase-containing compound metabolic process purine nucleotide metabolic process nucleoside diphosphate phosphorylation cellular aromatic compound metabolic process nucleoside phosphate metabolic process atp generation from adp phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process metabolic process catabolic process nucleotide metabolic process nucleoside diphosphate metabolic process purine nucleoside diphosphate metabolic process nucleoside triphosphate metabolic process purine nucleoside triphosphate metabolic process purine ribonucleotide metabolic process purine ribonucleoside diphosphate metabolic process ribonucleoside diphosphate metabolic process ribonucleoside triphosphate metabolic process purine ribonucleoside triphosphate metabolic process ribonucleotide metabolic process cellular process carbohydrate catabolic process phosphorylation organophosphate metabolic process ribose phosphate metabolic process carboxylic acid metabolic process monocarboxylic acid metabolic process regulation of microtubule-based process cellular nitrogen compound metabolic process regulation of locomotion positive regulation of locomotion oxoacid metabolic process cellular metabolic process primary metabolic process small molecule metabolic process adp metabolic process atp metabolic process heterocycle metabolic process nucleotide phosphorylation positive regulation of biological process positive regulation of cellular process regulation of biological process regulation of cellular process nucleobase-containing small molecule metabolic process regulation of cilium movement involved in cell motility regulation of microtubule-based movement biological regulation organic substance metabolic process purine-containing compound metabolic process carbohydrate derivative metabolic process regulation of flagellated sperm motility organic cyclic compound metabolic process organonitrogen compound metabolic process organic substance catabolic process regulation of cilium-dependent cell motility positive regulation of flagellated sperm motility regulation of cell motility positive regulation of cell motility positive regulation of cilium-dependent cell motility regulation of reproductive process positive regulation of reproductive process catalytic activity bisphosphoglycerate mutase activity phosphoglycerate mutase activity hydrolase activity isomerase activity intramolecular transferase activity intramolecular transferase activity, phosphotransferases extracellular region extracellular space cilium motile cilium vesicle sperm flagellum cell projection organelle membrane-bounded organelle extracellular organelle extracellular membrane-bounded organelle extracellular exosome sperm principal piece 9+2 motile cilium cellular anatomical entity plasma membrane bounded cell projection extracellular vesicle carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism glycolysis, and pentose-phosphate shunt glycolysis, and sugar-phosphatase activity phosphoglycerate mutase 1, and enolase, conserved site glycolysis / gluconeogenesis glycine, serine and threonine metabolism metabolic pathways carbon metabolism biosynthesis of amino acids glucagon signaling pathway central carbon metabolism in cancer cilium motile cilium sperm flagellum cell projection organelle membrane-bounded organelle sperm principal piece 9+2 motile cilium cellular anatomical entity plasma membrane bounded cell projection acetylation glycolysis hydrolase isomerase phosphoprotein phosphoglycerate/bisphosphoglycerate mutase, active site phosphoglycerate mutase 1 histidine phosphatase superfamily, clade-1 histidine phosphatase superfamily phosphoglycerate mutase family response to acid chemical angiogenesis blood vessel development ameboidal-type cell migration cellular glucose homeostasis cell activation liver development regulation of protein phosphorylation positive regulation of protein phosphorylation vasculature development activation of immune response immune system process immune response-activating cell surface receptor signaling pathway regulation of immune system process positive regulation of immune system process regulation of leukocyte activation positive regulation of leukocyte activation immune response-activating signal transduction immune response-regulating signaling pathway immune response-regulating cell surface receptor signaling pathway system process muscle system process circulatory system process heart process carbohydrate metabolic process monosaccharide metabolic process glucose metabolic process lipid metabolic process phospholipid metabolic process glycerophospholipid metabolic process phosphatidylinositol biosynthetic process phosphorus metabolic process phosphate-containing compound metabolic process transport phagocytosis apoptotic process muscle contraction striated muscle contraction response to stress organelle organization cytoskeleton organization cell communication signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway epidermal growth factor receptor signaling pathway multicellular organism development blood coagulation hemostasis blood circulation regulation of actin polymerization or depolymerization metabolic process cell death positive regulation of cell population proliferation insulin receptor signaling pathway lipid biosynthetic process phospholipid biosynthetic process biosynthetic process response to water response to external stimulus response to wounding response to mechanical stimulus response to abiotic stimulus anatomical structure morphogenesis response to endogenous stimulus response to hormone response to carbohydrate response to hexose response to glucose tissue development negative regulation of metabolic process positive regulation of metabolic process regulation of catabolic process negative regulation of catabolic process regulation of signal transduction positive regulation of signal transduction cellular process response to organic substance response to inorganic substance response to organonitrogen compound regulation of gene expression regulation of autophagy negative regulation of autophagy positive regulation of phosphorus metabolic process regulation of lamellipodium assembly positive regulation of lamellipodium assembly positive regulation of macromolecule metabolic process negative regulation of macromolecule metabolic process negative regulation of gene expression epithelial cell migration negative regulation of organelle organization regulation of cell communication positive regulation of cell communication regulation of chromatin assembly regulation of cell death programmed cell death phosphatidylinositol 3-kinase signaling response to organic cyclic compound response to activity response to inactivity response to muscle inactivity cellular component organization vesicle-mediated transport regulation of macroautophagy negative regulation of macroautophagy phosphorylation cell migration regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process hexose metabolic process organophosphate metabolic process cellular homeostasis regulation of cell-cell adhesion positive regulation of cell-cell adhesion regulation of signaling signaling positive regulation of signaling actin filament-based process actin cytoskeleton organization actin filament-based movement regulation of cell adhesion platelet activation regulation of actin filament length regulation of actin filament depolymerization negative regulation of actin filament depolymerization lymphocyte costimulation t cell costimulation regulation of cellular metabolic process negative regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular catabolic process negative regulation of cellular catabolic process regulation of cell projection organization positive regulation of cell projection organization regulation of protein modification process positive regulation of protein modification process regulation of heterochromatin assembly response to corticosteroid regulation of tor signaling positive regulation of tor signaling activation of protein kinase activity multicellular organismal process developmental process regulation of cellular component size response to insulin cellular response to insulin stimulus cellular response to hormone stimulus regulation of actin cytoskeleton organization regulation of actin filament-based process regulation of organelle organization regulation of peptidyl-serine phosphorylation positive regulation of peptidyl-serine phosphorylation carbohydrate homeostasis cellular response to stress positive regulation of kinase activity response to lipid response to monosaccharide tube morphogenesis tube development intracellular signal transduction cellular response to vascular endothelial growth factor stimulus response to muscle stretch phosphatidylinositol-3-phosphate biosynthetic process insulin receptor signaling pathway via phosphatidylinositol 3-kinase vascular endothelial growth factor signaling pathway erbb signaling pathway regulation of growth regulation of multicellular organism growth wound healing regulation of cell population proliferation response to chemical regulation of phosphorylation positive regulation of phosphorylation homeostatic process glucose homeostasis regulation of apoptotic process negative regulation of apoptotic process regulation of programmed cell death negative regulation of programmed cell death positive regulation of catalytic activity response to amino acid response to leucine negative regulation of protein-containing complex disassembly regulation of protein-containing complex disassembly anoikis response to peptide hormone regulation of cellular respiration regulation of generation of precursor metabolites and energy protein kinase b signaling regulation of neuron apoptotic process negative regulation of neuron apoptotic process endothelial cell migration regulation of kinase activity dna hypomethylation hypomethylation of cpg island regulation of dna methylation regulation of cellular component biogenesis positive regulation of cellular component biogenesis positive regulation of molecular function cellular metabolic process primary metabolic process cellular biosynthetic process cellular lipid metabolic process small molecule metabolic process glycerolipid biosynthetic process positive regulation of cell adhesion regulation of protein kinase activity positive regulation of protein kinase activity positive regulation of phosphate metabolic process glycerophospholipid biosynthetic process glycerolipid metabolic process phosphatidylinositol metabolic process phosphatidylinositol phosphate biosynthetic process phosphatidylinositol-mediated signaling inositol lipid-mediated signaling animal organ development blood vessel morphogenesis positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process response to steroid hormone regulation of response to stimulus positive regulation of response to stimulus regulation of developmental growth anatomical structure formation involved in morphogenesis regulation of smooth muscle cell proliferation positive regulation of smooth muscle cell proliferation system development gland development anatomical structure development cell motility multicellular organismal homeostasis chemical homeostasis regulation of immune response positive regulation of immune response regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process coagulation antigen receptor-mediated signaling pathway t cell receptor signaling pathway regulation of t cell activation regulation of cell activation positive regulation of cell activation positive regulation of t cell activation regulation of body fluid levels response to stimulus regulation of dna metabolic process regulation of cellular component organization negative regulation of cellular component organization positive regulation of cellular component organization regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process localization establishment of localization regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process regulation of lymphocyte activation positive regulation of lymphocyte activation regulation of transferase activity positive regulation of transferase activity response to glucocorticoid regulation of cytoskeleton organization negative regulation of cytoskeleton organization response to hydrostatic pressure cellular response to stimulus regulation of protein kinase b signaling positive regulation of protein kinase b signaling cellular chemical homeostasis relaxation of cardiac muscle heart contraction cardiac muscle contraction regulation of macromolecule metabolic process regulation of cell projection assembly negative regulation of cell death adipose tissue development hepaticobiliary system development connective tissue development cellular response to chemical stress biological regulation regulation of biological quality regulation of molecular function actin-mediated cell contraction response to fatty acid response to growth factor cellular response to chemical stimulus cellular response to abiotic stimulus cellular response to acid chemical cellular response to organic substance cellular response to carbohydrate stimulus cellular response to monosaccharide stimulus cellular response to hexose stimulus cellular response to glucose stimulus cellular response to growth factor stimulus cellular response to peptide hormone stimulus cellular response to organonitrogen compound cellular response to water stimulus cellular response to hydrostatic pressure cellular response to endogenous stimulus response to dexamethasone organic substance metabolic process cellular component organization or biogenesis circulatory system development regulation of primary metabolic process cardiac muscle cell contraction regulation of anatomical structure size relaxation of muscle tissue migration epithelium migration organophosphate biosynthetic process energy homeostasis cellular response to environmental stimulus regulation of actin filament organization regulation of plasma membrane bounded cell projection assembly positive regulation of plasma membrane bounded cell projection assembly regulation of plasma membrane bounded cell projection organization regulation of heterochromatin organization regulation of neuron death negative regulation of neuron death organic substance biosynthetic process response to peptide cellular response to peptide response to ketone response to nitrogen compound cellular response to nitrogen compound response to oxygen-containing compound cellular response to oxygen-containing compound regulation of protein depolymerization negative regulation of protein depolymerization regulation of chromatin organization regulation of intracellular signal transduction positive regulation of intracellular signal transduction regulation of lamellipodium organization positive regulation of lamellipodium organization regulation of supramolecular fiber organization negative regulation of supramolecular fiber organization regulation of leukocyte cell-cell adhesion positive regulation of leukocyte cell-cell adhesion response to butyrate regulation of anoikis regulation of fibroblast apoptotic process negative regulation of fibroblast apoptotic process regulation of genetic imprinting negative regulation of anoikis nucleotide binding catalytic activity protein kinase activity protein serine/threonine kinase activity binding protein binding atp binding enzyme activator activity kinase activity 1-phosphatidylinositol-3-kinase activity phosphatidylinositol phosphate kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding kinase regulator activity kinase activator activity protein kinase regulator activity enzyme regulator activity protein kinase activator activity adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding phosphatidylinositol 3-kinase activity 1-phosphatidylinositol-4-phosphate 3-kinase activity purine ribonucleoside triphosphate binding small molecule binding ion binding anion binding insulin receptor substrate binding phosphatidylinositol-4,5-bisphosphate 3-kinase activity phosphatidylinositol kinase activity phosphatidylinositol-3,4-bisphosphate 5-kinase activity phosphatidylinositol bisphosphate kinase activity organic cyclic compound binding carbohydrate derivative binding molecular function regulator activity protein serine kinase activity catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding intracellular anatomical structure cytoplasm cytosol plasma membrane cell-cell junction phosphatidylinositol 3-kinase complex phosphatidylinositol 3-kinase complex, class ia phosphatidylinositol 3-kinase complex, class ib intercalated disc membrane extrinsic component of membrane lamellipodium cell junction cell leading edge protein-containing complex cell projection cell-cell contact zone perinuclear region of cytoplasm transferase complex, transferring phosphorus-containing groups anchoring junction cell periphery phosphatidylinositol 3-kinase complex, class i membrane protein complex cellular anatomical entity plasma membrane bounded cell projection catalytic complex transferase complex mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and tyrosine-protein kinase, catalytic domain mixed, incl. constitutive signaling by aberrant pi3k in cancer, and fceri mediated ca+2 mobilization gpvi-mediated activation cascade, and sh2 domain superfamily mixed, incl. gpvi-mediated activation cascade, and insulin receptor binding mixed, incl. signaling by erythropoietin, and insulin receptor complex phosphatidylinositol 3-kinase complex, class i, and insulin receptor complex phosphatidylinositol 3-kinase complex, class i, and insulin receptor substrate pi3k/akt activation inositol phosphate metabolism metabolic pathways egfr tyrosine kinase inhibitor resistance endocrine resistance platinum drug resistance erbb signaling pathway ras signaling pathway rap1 signaling pathway camp signaling pathway chemokine signaling pathway hif-1 signaling pathway foxo signaling pathway phosphatidylinositol signaling system sphingolipid signaling pathway phospholipase d signaling pathway autophagy - animal mtor signaling pathway pi3k-akt signaling pathway ampk signaling pathway apoptosis longevity regulating pathway longevity regulating pathway - multiple species cellular senescence axon guidance vegf signaling pathway osteoclast differentiation focal adhesion signaling pathways regulating pluripotency of stem cells platelet activation toll-like receptor signaling pathway c-type lectin receptor signaling pathway jak-stat signaling pathway natural killer cell mediated cytotoxicity t cell receptor signaling pathway b cell receptor signaling pathway fc epsilon ri signaling pathway fc gamma r-mediated phagocytosis tnf signaling pathway leukocyte transendothelial migration neurotrophin signaling pathway cholinergic synapse inflammatory mediator regulation of trp channels regulation of actin cytoskeleton insulin signaling pathway progesterone-mediated oocyte maturation estrogen signaling pathway prolactin signaling pathway thyroid hormone signaling pathway regulation of lipolysis in adipocytes relaxin signaling pathway gnrh secretion type ii diabetes mellitus insulin resistance non-alcoholic fatty liver disease age-rage signaling pathway in diabetic complications growth hormone synthesis, secretion and action aldosterone-regulated sodium reabsorption carbohydrate digestion and absorption alzheimer disease spinocerebellar ataxia prion disease bacterial invasion of epithelial cells shigellosis salmonella infection yersinia infection chagas disease amoebiasis hepatitis c hepatitis b measles human cytomegalovirus infection influenza a human papillomavirus infection human t-cell leukemia virus 1 infection kaposi sarcoma-associated herpesvirus infection herpes simplex virus 1 infection epstein-barr virus infection human immunodeficiency virus 1 infection pathways in cancer viral carcinogenesis proteoglycans in cancer micrornas in cancer colorectal cancer renal cell carcinoma pancreatic cancer endometrial cancer glioma prostate cancer melanoma chronic myeloid leukemia acute myeloid leukemia small cell lung cancer non-small cell lung cancer breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer choline metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer fluid shear stress and atherosclerosis hemostasis pi3k cascade irs-mediated signalling gpvi-mediated activation cascade signaling by fgfr in disease signaling by erbb2 signaling by erbb2 in cancer constitutive signaling by ligand-responsive egfr cancer variants signaling by erbb4 pi3k events in erbb4 signaling pip3 activates akt signaling developmental biology cytokine signaling in immune system adaptive immune system metabolism signaling by scf-kit pi metabolism phospholipid metabolism cell-cell communication signal transduction disease signaling by egfr in cancer synthesis of pips at the plasma membrane signaling by ntrks innate immune system immune system signaling by egfr gab1 signalosome signaling by cytosolic fgfr1 fusion mutants fgfr1 mutant receptor activation downstream signal transduction signaling by pdgf signaling by ntrk1 (trka) signaling by fgfr signaling by vegf signaling by rho gtpases pi3k events in erbb2 signaling pi3k/akt activation negative regulation of the pi3k/akt network signaling by alk tcr signaling downstream tcr signaling cell surface interactions at the vascular wall fcgamma receptor (fcgr) dependent phagocytosis role of phospholipids in phagocytosis tie2 signaling dap12 interactions pi3k/akt signaling in cancer constitutive signaling by aberrant pi3k in cancer signaling by type 1 insulin-like growth factor 1 receptor (igf1r) dap12 signaling igf1r signaling cascade irs-related events triggered by igf1r fc epsilon receptor (fceri) signaling role of lat2/ntal/lab on calcium mobilization signaling by gpcr nephrin family interactions gpcr downstream signalling costimulation by the cd28 family cd28 co-stimulation cd28 dependent pi3k/akt signaling g alpha (q) signalling events axon guidance vegfa-vegfr2 pathway signaling by interleukins interleukin-2 family signaling interleukin-3, interleukin-5 and gm-csf signaling metabolism of lipids constitutive signaling by egfrviii signaling by egfrviii in cancer signaling by ligand-responsive egfr variants in cancer downstream signaling of activated fgfr1 pi-3k cascade:fgfr1 pi-3k cascade:fgfr2 downstream signaling of activated fgfr2 downstream signaling of activated fgfr3 pi-3k cascade:fgfr3 downstream signaling of activated fgfr4 pi-3k cascade:fgfr4 signaling by fgfr1 signaling by fgfr2 signaling by fgfr3 signaling by fgfr4 signaling by fgfr2 in disease signaling by fgfr4 in disease signaling by fgfr1 in disease signaling by fgfr3 in disease diseases of signal transduction by growth factor receptors and second messengers raf/map kinase cascade mapk family signaling cascades mapk1/mapk3 signaling signaling by met pi5p, pp2a and ier3 regulate pi3k/akt signaling insulin receptor signalling cascade signaling by insulin receptor platelet activation, signaling and aggregation met activates pi3k/akt signaling ret signaling esr-mediated signaling signaling by ntrk2 (trkb) signaling by erythropoietin intracellular signaling by second messengers signaling by nuclear receptors signaling by receptor tyrosine kinases extra-nuclear estrogen signaling rho gtpase cycle rac1 gtpase cycle rac2 gtpase cycle erythropoietin activates phosphoinositide-3-kinase (pi3k) activated ntrk2 signals through pi3k signaling by ntrk3 (trkc) interleukin receptor shc signaling regulation of signaling by cbl activated ntrk3 signals through pi3k flt3 signaling signaling by erbb2 kd mutants signaling by erbb2 ecd mutants signaling by kit in disease signaling by phosphorylated juxtamembrane, extracellular and kinase domain kit mutants signaling by pdgfr in disease signaling by pdgfra transmembrane, juxtamembrane and kinase domain mutants signaling by pdgfra extracellular domain mutants nervous system development signaling by csf1 (m-csf) in myeloid cells flt3 signaling in disease signaling by alk in cancer signaling by flt3 fusion proteins signaling by flt3 itd and tkd mutants signaling by rho gtpases, miro gtpases and rhobtb3 signaling by alk fusions and activated point mutants amp-activated protein kinase signaling angiogenesis micrornas in cardiomyocyte hypertrophy sterol regulatory element-binding proteins (srebp) signaling thyroid stimulating hormone (tsh) signaling pathway prolactin signaling pathway microtubule cytoskeleton regulation alzheimers disease and mirna effects il-17 signaling pathway thymic stromal lymphopoietin (tslp) signaling pathway glioblastoma signaling pathways androgen receptor network in prostate cancer glycerophospholipid biosynthetic pathway il1 and megakaryocytes in obesity transcriptional activation by nrf2 in response to phytochemicals focal adhesion hepatocyte growth factor receptor signaling copper homeostasis rac1/pak1/p38/mmp2 pathway pathways affected in adenoid cystic carcinoma pi3k-akt-mtor signaling pathway and therapeutic opportunities t-cell antigen receptor (tcr) pathway during staphylococcus aureus infection vegfa-vegfr2 signaling angiopoietin-like protein 8 regulatory pathway chemokine signaling pathway focal adhesion: pi3k-akt-mtor-signaling pathway microglia pathogen phagocytosis pathway il-4 signaling pathway pdgfr-beta pathway mirna regulation of prostate cancer signaling pathways fibrin complement receptor 3 signaling pathway pi3k/akt/mtor - vitamin d3 signaling endometrial cancer pi3k-akt signaling pathway met in type 1 papillary renal cell carcinoma ebola virus infection in host ras signaling epithelial to mesenchymal transition in colorectal cancer non-small cell lung cancer breast cancer pathway pancreatic adenocarcinoma pathway nrf2-are regulation nonalcoholic fatty liver disease resistin as a regulator of inflammation relationship between inflammation, cox-2 and egfr synaptic signaling pathways associated with autism spectrum disorder overview of interferons-mediated signaling pathway neural crest cell migration during development neural crest cell migration in cancer translation inhibitors in chronically activated pdgfra cells cancer immunotherapy by ctla4 blockade measles virus infection small cell lung cancer gastrin signaling pathway hepatitis b infection head and neck squamous cell carcinoma melanoma thyroid hormones production and peripheral downstream signaling effects netrin-unc5b signaling pathway osteoblast differentiation and related diseases egfr tyrosine kinase inhibitor resistance insulin signaling mbdnf and probdnf regulation of gaba neurotransmission regucalcin in proximal tubule epithelial kidney cells kisspeptin/kisspeptin receptor system in the ovary phosphoinositides metabolism kallmann syndrome malignant pleural mesothelioma regulation of actin cytoskeleton congenital generalized lipodystrophy familial partial lipodystrophy alzheimers disease resolvin e1 and resolvin d1 signaling pathways promoting inflammation resolution modulation of pi3k-akt-mtor signaling by bioactive sphingolipids dravet syndrome g13 signaling pathway ckap4 signaling pathway map erbb signaling pathway dna damage response (only atm dependent) estrogen signaling pathway serotonin htr1 group and fos pathway toll-like receptor signaling pathway lower respiratory tract disease respiratory system cancer organ system cancer cell type cancer ovarian clear cell carcinoma pten hamartoma tumor syndrome cloves syndrome hepatobiliary system cancer epidermal nevus ovarian disease urinary bladder cancer head and neck cancer female reproductive organ cancer lung cancer proteus syndrome disease of cellular proliferation reproductive system disease head and neck carcinoma respiratory system disease integumentary system disease cancer squamous cell carcinoma urinary system disease reproductive organ cancer malignant ovarian surface epithelial-stromal neoplasm ovary epithelial cancer syndrome gonadal disease female reproductive system disease ovarian cancer endocrine system disease klippel-trenaunay syndrome adenocarcinoma carcinoma hepatobiliary disease gastrointestinal system cancer bladder disease skin disease urinary system cancer disease ovarian carcinoma bile duct disease bile duct cancer biliary tract cancer bile duct adenocarcinoma bile duct carcinoma cholangiocarcinoma head and neck squamous cell carcinoma cowden syndrome disease of anatomical entity gastrointestinal system disease lung disease biliary tract disease tissues, cell types and enzyme sources animal reproductive system female reproductive system bulb respiratory system clove gland plant form lung whole plant plant endocrine gland whole body urogenital system intracellular cytoplasm cytosol phosphatidylinositol 3-kinase complex phosphatidylinositol 3-kinase complex, class ia phosphatidylinositol 3-kinase complex, class ib membrane extrinsic component of membrane protein-containing complex tor complex transferase complex, transferring phosphorus-containing groups phosphatidylinositol 3-kinase complex, class i membrane protein complex cellular anatomical entity catalytic complex phosphatase complex phosphatidylinositol phosphate phosphatase complex transferase complex pten phosphatase complex ischemia sign or symptom pain erythrocyte count erythrocyte indices hematological measurement hemoglobin measurement mean corpuscular volume mean corpuscular hemoglobin mean corpuscular hemoglobin concentration complete blood cell count protein measurement erythrocyte measurement red blood cell density measurement reticulocyte measurement mean reticulocyte volume abnormality of body height abnormal morphology of female internal genitalia functional abnormality of the bladder abnormality of the bladder urinary incontinence abnormality of male external genitalia hydrocele testis abnormal testis morphology abnormal penis morphology hypogonadotropic hypogonadism abnormality of the kidney abnormality of the genital system abnormality of the urinary system abnormality of reproductive system physiology tall stature enlarged kidney phenotypic abnormality abnormality of the genitourinary system abnormality of the uterus hypogonadism abnormality of the ovary ovarian cyst abnormality of the menstrual cycle amenorrhea polycystic ovaries abnormality of head or neck abnormality of the mouth wide mouth abnormality of the tongue macroglossia abnormal lip morphology narrow mouth abnormal oral cavity morphology abnormal palate morphology abnormal upper lip morphology high palate furrowed tongue abnormality of the head hydrocephalus abnormality of skull size macrocephaly cranial asymmetry abnormality of the face abnormal mandible morphology epicanthus abnormality of the philtrum abnormality of the forehead full cheeks abnormality of facial musculature abnormal midface morphology abnormality of the orbital region hypertelorism smooth philtrum facial asymmetry abnormality of the maxilla hypoplasia of the maxilla broad forehead micrognathia high forehead abnormality of the outer ear tinnitus abnormal earlobe morphology hearing abnormality hearing impairment abnormality of the nose abnormal pinna morphology abnormal nasal bridge morphology abnormality of the eye abnormal retinal morphology deeply set eye abnormal eyelid morphology downslanted palpebral fissures abnormality of eye movement abnormal conjunctiva morphology abnormality of vision visual impairment abnormal lens morphology cataract proptosis progressive visual loss abnormality of refraction myopia microphthalmia visual loss abnormality of the optic nerve ophthalmoparesis abnormality of the ear ophthalmoplegia blindness optic atrophy abnormality of the nervous system behavioral abnormality emotional lability autism autistic behavior abnormal peripheral nervous system morphology abnormal thorax morphology abnormal sternum morphology pectus excavatum abnormality of the breast gynecomastia narrow chest impotence abnormal external genitalia abnormal internal genitalia abnormality of the endocrine system diabetes mellitus abnormality of the thyroid gland hypothyroidism decreased response to growth hormone stimulation test anterior hypopituitarism abnormality of the adrenal glands hyperthyroidism adrenal insufficiency goiter thyroid adenoma abnormality of the hypothalamus-pituitary axis increased circulating prolactin concentration abnormality of the skeletal system abnormality of the vertebral column abnormal skull morphology abnormality of the skin jaundice hyperpigmentation of the skin cafe-au-lait spot hyperkeratosis eczema cutis marmorata edema palmoplantar hyperkeratosis palmoplantar keratoderma melanocytic nevus abnormality of skin pigmentation abnormality of subcutaneous fat tissue lymphedema dermatological manifestations of systemic disorders telangiectasia hypopigmentation of the skin multiple lipomas hemangioma subcutaneous lipoma hypermelanotic macule parakeratosis cavernous hemangioma seborrheic dermatitis nevus flammeus hypopigmented skin patches numerous nevi neurofibromas thickened skin biliary tract abnormality papilledema abnormal fundus morphology angioid streaks of the fundus visual field defect abnormality of the hand brachydactyly syndactyly hand polydactyly abnormality of finger intellectual disability seizure ataxia hypotonia intellectual disability, mild excessive daytime somnolence global developmental delay hemiparesis syncope gait disturbance generalized hypotonia abnormal cranial nerve morphology encephalopathy pachygyria abnormal nervous system electrophysiology abnormal cerebellum morphology muscle weakness myoclonus tremor lissencephaly cerebral hemorrhage megalencephaly joint hypermobility joint laxity abnormality of the liver cirrhosis cholestasis hepatocellular carcinoma portal hypertension micronodular cirrhosis abnormal abdomen morphology subcutaneous nodule growth abnormality failure to thrive growth delay obesity hemihypertrophy ascites overgrowth abnormality of the integument abnormality of the cardiovascular system abnormal heart morphology ventricular septal defect abnormal cardiac septum morphology abnormal cardiac ventricle morphology abnormality of the spleen splenomegaly abnormal foot morphology toe syndactyly abnormality of toe weight loss foot polydactyly sandal gap abnormality of blood and blood-forming tissues abnormality of thrombocytes thrombocytopenia abnormal erythrocyte morphology abnormal leukocyte morphology abnormal bleeding thrombocytosis polycythemia anemia leukemia abnormality of metabolism/homeostasis hypoglycemia fever alkalosis glucose intolerance abnormal facial shape frontal bossing morphological central nervous system abnormality abnormality of the abdominal organs diarrhea nausea and vomiting abdominal pain abnormal esophagus morphology abnormal rectum morphology anorexia esophageal varix abnormal cerebral morphology intention tremor abnormality of the respiratory system abnormal lung morphology dyspnea abnormal cerebral ventricle morphology ventriculomegaly polymicrogyria status epilepticus abnormality of the spinal cord tethered cord neurological speech impairment intracranial hemorrhage gliosis hepatomegaly abnormal intestine morphology abnormal large intestine morphology colonic diverticula abnormality of neuronal migration gray matter heterotopia chiari malformation headache action tremor eeg abnormality memory impairment difficulty walking sleep disturbance abnormal brainstem morphology cavum septum pellucidum eeg with polyspike wave complexes cerebellar malformation hepatic encephalopathy upper motor neuron dysfunction abnormal cerebral white matter morphology brain stem compression increased intracranial pressure abnormal cortical gyration abnormal cerebral cortex morphology cortical dysplasia abnormal stomach morphology abnormality of the vasculature hepatic necrosis hypotension varicose veins abnormal venous morphology cerebral ischemia budd-chiari syndrome scoliosis bone pain neoplasm nephroblastoma gastrointestinal carcinoma abnormal calvaria morphology abnormality of the immune system immunodeficiency abnormal pattern of respiration abnormal respiratory system physiology kyphosis abnormality of limb bone morphology abnormality of the lower limb abnormality of the upper limb meningioma melanoma bladder carcinoma thyroid carcinoma uterine leiomyosarcoma neoplasm of the liver embryonal neoplasm hypokalemia hyponatremia hyperbilirubinemia elevated hepatic transaminase decreased circulating acth level abnormal cerebrospinal fluid morphology abnormality of thyroid physiology aplasia/hypoplasia involving the central nervous system breast carcinoma ganglioneuroma abnormality of the musculature hypercalcemia hypoalbuminemia abnormality of urine homeostasis abnormal blood ion concentration abnormal circulating hormone concentration abnormality of chromosome stability abdominal distention visceromegaly abnormal bone structure back pain upper limb muscle weakness abnormality of connective tissue limb muscle weakness skeletal muscle hypertrophy myoclonic spasms nevus abnormal muscle tone macrodactyly duplication of hand bones abnormality of the biliary system functional motor deficit involuntary movements short stature abnormality of body weight increased body weight decreased body weight abnormal anterior eye segment morphology abnormal posterior eye segment morphology abnormal circulating carboxylic acid concentration abnormality of acid-base homeostasis abnormal circulating calcium concentration abnormal circulating nitrogen compound concentration abnormality of temperature regulation reduced consciousness/confusion hemiplegia/hemiparesis neoplasm of the nervous system hematological neoplasm hamartomatous polyposis poor appetite abnormality of the sense of smell abnormal cheek morphology cranial hyperostosis progressive macrocephaly abnormal nasal morphology bowel diverticulosis thoracic hypoplasia intestinal polyp depressed nasal bridge venous insufficiency capillary hemangioma cellular immunodeficiency renal cell carcinoma generalized hyperkeratosis abnormal tracheobronchial morphology joint hyperflexibility abnormal finger phalanx morphology abnormal hand morphology type ii diabetes mellitus finger syndactyly alveolar cell carcinoma progressive pulmonary function impairment viral hepatitis subacute progressive viral hepatitis abnormality of the hepatic vasculature hereditary nonpolyposis colorectal carcinoma follicular thyroid carcinoma transitional cell carcinoma of the bladder malignant gastrointestinal tract tumors neoplasm of the stomach ovarian papillary adenocarcinoma cranial nerve paralysis hemimegalencephaly lower limb muscle weakness focal-onset seizure aplasia/hypoplasia of the cerebellum abnormal septum pellucidum morphology neoplasm of the gastrointestinal tract neoplasm of the genitourinary tract irregular hyperpigmentation generalized edema hemangiomatosis plantar hyperkeratosis multiple cafe-au-lait spots reduced visual acuity weak extraocular muscles slow decrease in visual acuity abnormality of the palpebral fissures aplasia/hypoplasia affecting the eye neoplasm of the skin decreased circulating cortisol level reduced circulating prolactin concentration primary adrenal insufficiency decreased serum estradiol hypothalamic hypothyroidism secondary growth hormone deficiency pituitary hypothyroidism puberty and gonadal disorders microtia enlarged polycystic ovaries renal hypoplasia/aplasia aplasia/hypoplasia of the ear aplasia/hypoplasia of the external ear aplasia/hypoplasia involving the skeleton aplasia/hypoplasia involving bones of the skull aplasia/hypoplasia of the mandible abnormal axial skeleton morphology aplasia/hypoplasia affecting bones of the axial skeleton abnormal adipose tissue morphology lipodystrophy abnormality of the musculature of the limbs duplication involving bones of the feet duplication of bones involving the upper extremities adenoma sebaceum bladder neoplasm renal neoplasm large earlobe duplication of phalanx of hand spinal dysraphism abnormal ventricular septum morphology polydactyly abnormality of the female genitalia abnormality of the male genitalia hypertrophy of the upper limb hypertrophy of the lower limb hyperpituitarism transient global amnesia weakness due to upper motor neuron dysfunction hamartoma hamartoma of the eye skin tags fibroma angiofibromas facial palsy abnormal meningeal morphology abnormality of the diencephalon abnormality of thalamus morphology abnormality of the curvature of the vertebral column 2-4 toe syndactyly pedal edema palmar hyperkeratosis uterine neoplasm gonadal neoplasm urinary tract neoplasm genital neoplasm epidermal nevus atonic seizure abnormality of the seventh cranial nerve hemifacial spasm eeg with spike-wave complexes eeg with burst suppression intellectual disability, severe abnormal circulating protein concentration abnormal blood inorganic cation concentration abnormal blood cation concentration abnormal blood monovalent inorganic cation concentration abnormal blood sodium concentration abnormality of the upper urinary tract abnormality of the lower urinary tract abnormality of immune system physiology abnormal cellular immune system morphology abnormal cerebral subcortex morphology abnormal circulating dicarboxylic acid concentration chromosomal breakage induced by ionizing radiation abnormal glucose homeostasis abnormal blood glucose concentration abnormal cellular physiology abnormality of the gastrointestinal tract abnormal cardiovascular system physiology abnormality of blood circulation internal hemorrhage abnormality of fluid regulation abnormal blood potassium concentration abnormal circulating adrenocorticotropin concentration epileptic spasm abnormality of skin morphology abnormality of skin physiology inflammatory abnormality of the skin increased sensitivity to ionizing radiation focal motor seizure focal tonic seizure interictal epileptiform activity eeg with focal epileptiform discharges eeg with focal spikes eeg with focal sharp slow waves eeg with generalized epileptiform discharges hemihypsarrhythmia abnormal shape of the frontal region vascular skin abnormality abnormality of the urinary system physiology abnormal hindbrain morphology abnormal metencephalon morphology abnormal digit morphology abnormality of mouth size generalized abnormality of skin localized skin lesion regional abnormality of skin epidermal thickening abnormal central motor function abnormality of coordination abnormality of higher mental function abdominal symptom arrhythmia abnormality of joint mobility abnormal central sensory function abnormality of circulating cortisol level abnormality of adrenal physiology abnormality of the anterior pituitary neoplasm of the anterior pituitary abnormality of the posterior pituitary neoplasm of the posterior pituitary abnormal thyroid morphology central hypothyroidism neoplasm by histology neoplasm by anatomical site embryonal renal neoplasm abnormality of facial soft tissue abnormal muscle physiology abnormal skeletal muscle morphology abnormal facial skeleton morphology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology abnormal platelet count abnormal platelet morphology short digit lipomatous tumor lipoma anasarca bone cyst abnormality of circulating glucocorticoid level endometrial carcinoma hepatitis abnormal circulating albumin concentration stomach cancer abnormal renal morphology abnormal reproductive system morphology oculomotor nerve palsy abnormal respiratory system morphology abnormal hypothalamus physiology fibrous tissue neoplasm abnormal homeostasis abnormal eye morphology abnormal eye physiology hemianopia fatigue abnormal enzyme/coenzyme activity abnormal biliary tract physiology abnormality of brain morphology abnormality of the pituitary gland abnormal size of pituitary gland enlarged pituitary gland pain abnormal nervous system physiology abnormal nervous system morphology abnormality of intracranial pressure abnormal inflammatory response increased inflammatory response abnormal brain positron emission tomography abnormal brain fdg positron emission tomography focal t2 hypointense thalamic lesion abnormal thalamic mri signal intensity morphological abnormality of the gastrointestinal tract venous malformation anorectal anomaly macule papilloma abnormal neuron morphology neurodevelopmental delay neurodevelopmental abnormality abnormal optic disc morphology abnormal male reproductive system physiology ovarian serous cystadenoma motor seizure abnormal vascular morphology abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology capillary malformation abnormal circulating estrogen level abnormal serum estradiol constitutional symptom abnormal arterial physiology abnormal cellular phenotype obsolete psychomotor retardation interictal eeg abnormality abnormal spleen morphology abscess abnormal female reproductive system physiology lung adenocarcinoma abnormal circulating testosterone concentration abnormal endometrium morphology abnormal vascular physiology abnormality of central nervous system electrophysiology kinetic tremor abnormality of muscle size large intestinal polyposis weakness of facial musculature abnormal circulating gonadotropin concentration decreased circulating gonadotropin concentration decreased circulating follicle stimulating hormone concentration decreased circulating luteinizing hormone level abnormal circulating luteinizing hormone concentration abnormal circulating follicle-stimulating hormone concentration abnormal circulating androgen level decreased circulating androgen concentration non-small cell lung carcinoma soft tissue sarcoma neoplasm of the autonomic nervous system heteronymous hemianopia bitemporal hemianopia visual acuity test abnormality abnormal visual field test abnormal kinetic perimetry test abnormal ocular adnexa morphology hamartoma of the orbital region abnormality of cardiovascular system morphology ear pain abnormal jaw morphology abnormal tongue morphology abnormality of venous physiology abnormality on pulmonary function testing hyperintensity of cerebral white matter on mri abnormality of cardiovascular system electrophysiology abnormal systemic blood pressure impairment of activities of daily living impaired continence abnormal ovarian morphology abnormal endocrine physiology abnormal response to endocrine stimulation test abnormal breast morphology abnormal uterus morphology seborrheic keratosis impairment in personality functioning vascular malformation of the lip capillary malformation of the lip abnormal ear morphology abnormal ear physiology abnormal oral morphology abnormal cranial nerve physiology abnormal fifth cranial nerve physiology abnormal conus terminalis morphology abnormal urine carbohydrate level abnormality of the ocular adnexa focal cortical dysplasia abnormal circulating metabolite concentration abnormal immune system morphology increased blood pressure tonic seizure female reproductive system neoplasm abnormality of the musculoskeletal system neuralgia abnormal blood vessel morphology abnormal urine metabolite level tissue ischemia abnormal circulating bilirubin concentration abnormal circulating sex hormone concentration abnormal joint physiology hyperparakeratosis chromosome breakage abnormality of limbs abnormality of limb bone abnormal lower limb bone morphology hypopituitarism abnormal prolactin level decreased serum testosterone concentration increased head circumference abnormal skin morphology of the palm neoplasm of the pituitary gland male sexual dysfunction neural tube defect abnormal mediastinum morphology abnormality of the thoracic cavity pain in head and neck region neoplasm of the central nervous system neoplasm of the peripheral nervous system intracranial meningioma spinal meningioma neoplasm of the eye neoplasm of the breast abnormality of movement arteriovenous malformation neoplasm of the thyroid gland sarcoma leiomyosarcoma liver abscess neoplasm of the lung cognitive impairment abnormal forebrain morphology neoplasm of the tracheobronchial system hemihypertrophy of lower limb hemihypertrophy of upper limb asymmetric growth lower limb asymmetry upper limb asymmetry neoplasm of the endocrine system lipoatrophy mucosal telangiectasiae telangiectasia of the skin neoplasm of the respiratory system ovarian neoplasm germinoma dysgerminoma erectile dysfunction thyroiditis neoplasm of the tongue neoplasm of the oral cavity abnormal cerebral vascular morphology trigeminal neuralgia abnormal glial cell morphology germ cell neoplasia vascular neoplasm neoplasm of the rectum visceral angiomatosis hemobilia abnormality of the lymphatic system lymphangioma hyperostosis conjunctival hamartoma hernia neoplasm of the large intestine benign neoplasm of the central nervous system abnormal emotion/affect behavior abnormal palm morphology abnormality of the plantar skin of foot enlarged ovaries abnormality of globe location abnormality of globe size slanting of the palpebral fissure intestinal polyposis neoplasm of fatty tissue papule skin nodule colorectal polyposis metabolic alkalosis epigastric pain abnormal liver morphology abnormal neural tube morphology increased level of l-fucose in urine brain imaging abnormality abnormal frontal bone morphology angiogenesis atp-binding kinase nucleotide-binding phagocytosis proto-oncogene serine/threonine-protein kinase transferase phosphatidylinositol 3-kinase ras-binding (pi3k rbd) domain phosphatidylinositol 3-/4-kinase, catalytic domain phosphoinositide 3-kinase, accessory (pik) domain c2 phosphatidylinositol 3-kinase-type domain phosphatidylinositol 3-kinase, adaptor-binding domain protein kinase-like domain superfamily phosphatidylinositol kinase armadillo-type fold phosphatidylinositol 3/4-kinase, conserved site ubiquitin-like domain superfamily c2 domain superfamily phosphatidylinositol 3-/4-kinase, catalytic domain superfamily pi3kalpha, catalytic domain phosphoinositide 3-kinase, accessory (pik) domain superfamily pi3-kinase family, p85-binding domain pi3-kinase family, ras-binding domain phosphoinositide 3-kinase family, accessory domain (pik domain) phosphoinositide 3-kinase, catalytic domain protein kinase c conserved region 2 (calb) angiogenesis blood vessel development cell activation regulation of protein phosphorylation negative regulation of protein phosphorylation endothelial cell proliferation vasculature development regulation of cell-matrix adhesion regulation of immune system process positive regulation of immune system process response to ischemia sphingosine-1-phosphate receptor signaling pathway negative regulation of protein kinase activity lipid metabolic process phospholipid metabolic process glycerophospholipid metabolic process phosphatidylinositol biosynthetic process phosphorus metabolic process phosphate-containing compound metabolic process transport cellular ion homeostasis cellular calcium ion homeostasis cellular metal ion homeostasis endocytosis autophagy chemotaxis response to stress cell communication cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway g protein-coupled receptor signaling pathway multicellular organism development blood coagulation hemostasis metabolic process cell population proliferation lipid biosynthetic process phospholipid biosynthetic process catabolic process biosynthetic process response to external stimulus response to wounding anatomical structure morphogenesis embryo development negative regulation of metabolic process positive regulation of metabolic process regulation of catabolic process positive regulation of catabolic process regulation of signal transduction positive regulation of signal transduction negative regulation of signal transduction cellular process regulation of gene expression regulation of autophagy positive regulation of autophagy negative regulation of phosphorus metabolic process regulation of endothelial cell migration positive regulation of endothelial cell migration positive regulation of macromolecule metabolic process negative regulation of macromolecule metabolic process positive regulation of gene expression regulation of epithelial cell migration positive regulation of epithelial cell migration regulation of cell communication positive regulation of cell communication negative regulation of cell communication regulation of cell-substrate adhesion regulation of cell death positive regulation of cell death phosphatidylinositol 3-kinase signaling vesicle-mediated transport phosphorylation cell migration negative regulation of angiogenesis regulation of phosphate metabolic process regulation of metabolic process organophosphate metabolic process cellular homeostasis regulation of anatomical structure morphogenesis regulation of signaling signaling positive regulation of signaling negative regulation of signaling cellular cation homeostasis regulation of endocytosis regulation of cell adhesion platelet activation regulation of cell migration positive regulation of cell migration regulation of cellular metabolic process negative regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular catabolic process positive regulation of cellular catabolic process regulation of protein modification process negative regulation of protein modification process multicellular organismal process developmental process regulation of monooxygenase activity positive regulation of monooxygenase activity regulation of localization regulation of neutrophil apoptotic process positive regulation of neutrophil apoptotic process regulation of myeloid cell apoptotic process positive regulation of myeloid cell apoptotic process negative regulation of kinase activity homotypic cell-cell adhesion regulation of rac protein signal transduction positive regulation of rac protein signal transduction tube morphogenesis tube development intracellular signal transduction phosphatidylinositol-3-phosphate biosynthetic process locomotion regulation of locomotion embryonic cleavage positive regulation of locomotion wound healing response to chemical regulation of phosphorylation negative regulation of phosphorylation taxis homeostatic process regulation of apoptotic process positive regulation of apoptotic process negative regulation of apoptotic process regulation of programmed cell death positive regulation of programmed cell death negative regulation of programmed cell death positive regulation of catalytic activity negative regulation of catalytic activity regulation of map kinase activity negative regulation of map kinase activity regulation of mapk cascade negative regulation of mapk cascade regulation of kinase activity negative regulation of molecular function positive regulation of molecular function cellular metabolic process primary metabolic process cellular catabolic process cellular biosynthetic process cellular lipid metabolic process glycerolipid biosynthetic process regulation of angiogenesis regulation of protein kinase activity negative regulation of phosphate metabolic process glycerophospholipid biosynthetic process glycerolipid metabolic process phosphatidylinositol metabolic process regulation of ras protein signal transduction positive regulation of ras protein signal transduction phosphatidylinositol phosphate biosynthetic process phosphatidylinositol-mediated signaling inositol lipid-mediated signaling regulation of receptor-mediated endocytosis blood vessel morphogenesis positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process regulation of response to stimulus positive regulation of response to stimulus negative regulation of response to stimulus anatomical structure formation involved in morphogenesis system development anatomical structure development cell motility chemical homeostasis epithelial cell proliferation regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process ion homeostasis coagulation regulation of body fluid levels response to stimulus regulation of nitric-oxide synthase activity positive regulation of nitric-oxide synthase activity regulation of transport regulation of small gtpase mediated signal transduction positive regulation of small gtpase mediated signal transduction negative regulation of developmental process regulation of cellular component organization regulation of nitrogen compound metabolic process negative regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process localization establishment of localization regulation of multicellular organismal process negative regulation of multicellular organismal process regulation of protein metabolic process negative regulation of protein metabolic process cell division regulation of transferase activity regulation of oxidoreductase activity negative regulation of transferase activity positive regulation of oxidoreductase activity cellular response to stimulus regulation of protein kinase b signaling positive regulation of protein kinase b signaling negative regulation of protein kinase b signaling metal ion homeostasis calcium ion homeostasis cation homeostasis cellular chemical homeostasis angiogenesis involved in wound healing regulation of macromolecule metabolic process negative regulation of cell death regulation of vesicle-mediated transport process utilizing autophagic mechanism biological regulation regulation of biological quality regulation of molecular function platelet aggregation organic substance metabolic process regulation of protein serine/threonine kinase activity negative regulation of protein serine/threonine kinase activity circulatory system development cellular divalent inorganic cation homeostasis divalent inorganic cation homeostasis regulation of primary metabolic process regulation of response to stress regulation of cellular response to stress regulation of cellular response to growth factor stimulus negative regulation of cellular response to growth factor stimulus organophosphate biosynthetic process sphingolipid mediated signaling pathway cell-cell adhesion cell-cell adhesion via plasma-membrane adhesion molecules inorganic ion homeostasis regulation of cellular response to hypoxia negative regulation of cellular response to hypoxia regulation of vascular endothelial growth factor signaling pathway negative regulation of vascular endothelial growth factor signaling pathway regulation of vasculature development negative regulation of vasculature development organic substance biosynthetic process regulation of intracellular signal transduction negative regulation of intracellular signal transduction positive regulation of intracellular signal transduction regulation of cellular response to vascular endothelial growth factor stimulus negative regulation of cellular response to vascular endothelial growth factor stimulus regulation of hypoxia-induced intrinsic apoptotic signaling pathway negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway regulation of sprouting angiogenesis negative regulation of sprouting angiogenesis regulation of multicellular organismal development regulation of leukocyte apoptotic process positive regulation of leukocyte apoptotic process regulation of cell motility positive regulation of cell motility negative regulation of blood vessel morphogenesis regulation of clathrin-dependent endocytosis regulation of apoptotic signaling pathway negative regulation of apoptotic signaling pathway regulation of intrinsic apoptotic signaling pathway negative regulation of intrinsic apoptotic signaling pathway nucleotide binding catalytic activity protein kinase activity binding protein binding atp binding kinase activity 1-phosphatidylinositol-3-kinase activity phosphatidylinositol phosphate kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding phosphatidylinositol 3-kinase activity 1-phosphatidylinositol-4-phosphate 3-kinase activity purine ribonucleoside triphosphate binding small molecule binding ion binding anion binding insulin receptor substrate binding phosphatidylinositol-4,5-bisphosphate 3-kinase activity phosphatidylinositol kinase activity phosphatidylinositol-3,4-bisphosphate 5-kinase activity phosphatidylinositol bisphosphate kinase activity organic cyclic compound binding carbohydrate derivative binding protein serine kinase activity catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding intracellular anatomical structure nucleus nucleoplasm nucleolus cytoplasm cytosol plasma membrane phosphatidylinositol 3-kinase complex phosphatidylinositol 3-kinase complex, class ia membrane extrinsic component of membrane midbody membrane-enclosed lumen nuclear lumen protein-containing complex organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen transferase complex, transferring phosphorus-containing groups intracellular organelle lumen cell periphery phosphatidylinositol 3-kinase complex, class i membrane protein complex cellular anatomical entity catalytic complex transferase complex mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and tyrosine-protein kinase, catalytic domain mixed, incl. constitutive signaling by aberrant pi3k in cancer, and fceri mediated ca+2 mobilization gpvi-mediated activation cascade, and sh2 domain superfamily mixed, incl. gpvi-mediated activation cascade, and insulin receptor binding mixed, incl. signaling by erythropoietin, and insulin receptor complex phosphatidylinositol 3-kinase complex, class i, and insulin receptor complex phosphatidylinositol 3-kinase complex, class i, and insulin receptor substrate pi3k/akt activation inositol phosphate metabolism metabolic pathways egfr tyrosine kinase inhibitor resistance endocrine resistance platinum drug resistance erbb signaling pathway ras signaling pathway rap1 signaling pathway camp signaling pathway chemokine signaling pathway hif-1 signaling pathway foxo signaling pathway phosphatidylinositol signaling system sphingolipid signaling pathway phospholipase d signaling pathway autophagy - animal mtor signaling pathway pi3k-akt signaling pathway ampk signaling pathway apoptosis longevity regulating pathway longevity regulating pathway - multiple species cellular senescence axon guidance vegf signaling pathway osteoclast differentiation focal adhesion signaling pathways regulating pluripotency of stem cells platelet activation toll-like receptor signaling pathway c-type lectin receptor signaling pathway jak-stat signaling pathway natural killer cell mediated cytotoxicity t cell receptor signaling pathway b cell receptor signaling pathway fc epsilon ri signaling pathway fc gamma r-mediated phagocytosis tnf signaling pathway leukocyte transendothelial migration neurotrophin signaling pathway cholinergic synapse inflammatory mediator regulation of trp channels regulation of actin cytoskeleton insulin signaling pathway progesterone-mediated oocyte maturation estrogen signaling pathway prolactin signaling pathway thyroid hormone signaling pathway regulation of lipolysis in adipocytes relaxin signaling pathway gnrh secretion type ii diabetes mellitus insulin resistance non-alcoholic fatty liver disease age-rage signaling pathway in diabetic complications growth hormone synthesis, secretion and action aldosterone-regulated sodium reabsorption carbohydrate digestion and absorption alzheimer disease spinocerebellar ataxia prion disease bacterial invasion of epithelial cells shigellosis salmonella infection yersinia infection chagas disease amoebiasis hepatitis c hepatitis b measles human cytomegalovirus infection influenza a human papillomavirus infection human t-cell leukemia virus 1 infection kaposi sarcoma-associated herpesvirus infection herpes simplex virus 1 infection epstein-barr virus infection human immunodeficiency virus 1 infection pathways in cancer viral carcinogenesis proteoglycans in cancer micrornas in cancer colorectal cancer renal cell carcinoma pancreatic cancer endometrial cancer glioma prostate cancer melanoma chronic myeloid leukemia acute myeloid leukemia small cell lung cancer non-small cell lung cancer breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer choline metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer fluid shear stress and atherosclerosis hemostasis pi3k cascade irs-mediated signalling gpvi-mediated activation cascade pip3 activates akt signaling developmental biology cytokine signaling in immune system adaptive immune system metabolism pi metabolism phospholipid metabolism cell-cell communication signal transduction disease synthesis of pips at the plasma membrane signaling by ntrks innate immune system immune system downstream signal transduction signaling by pdgf signaling by ntrk1 (trka) signaling by vegf pi3k/akt activation negative regulation of the pi3k/akt network signaling by alk tcr signaling downstream tcr signaling cell surface interactions at the vascular wall fcgamma receptor (fcgr) dependent phagocytosis role of phospholipids in phagocytosis tie2 signaling dap12 interactions pi3k/akt signaling in cancer constitutive signaling by aberrant pi3k in cancer signaling by type 1 insulin-like growth factor 1 receptor (igf1r) dap12 signaling igf1r signaling cascade irs-related events triggered by igf1r fc epsilon receptor (fceri) signaling role of lat2/ntal/lab on calcium mobilization nephrin family interactions axon guidance vegfa-vegfr2 pathway signaling by interleukins interleukin-2 family signaling interleukin-3, interleukin-5 and gm-csf signaling metabolism of lipids diseases of signal transduction by growth factor receptors and second messengers raf/map kinase cascade mapk family signaling cascades mapk1/mapk3 signaling pi5p, pp2a and ier3 regulate pi3k/akt signaling insulin receptor signalling cascade signaling by insulin receptor platelet activation, signaling and aggregation ret signaling signaling by erythropoietin intracellular signaling by second messengers signaling by receptor tyrosine kinases erythropoietin activates phosphoinositide-3-kinase (pi3k) interleukin receptor shc signaling regulation of signaling by cbl signaling by pdgfr in disease signaling by pdgfra transmembrane, juxtamembrane and kinase domain mutants signaling by pdgfra extracellular domain mutants nervous system development signaling by csf1 (m-csf) in myeloid cells amp-activated protein kinase signaling micrornas in cardiomyocyte hypertrophy prolactin signaling pathway alzheimers disease and mirna effects glioblastoma signaling pathways glycerophospholipid biosynthetic pathway focal adhesion pi3k-akt-mtor signaling pathway and therapeutic opportunities angiopoietin-like protein 8 regulatory pathway chemokine signaling pathway focal adhesion: pi3k-akt-mtor-signaling pathway microglia pathogen phagocytosis pathway endometrial cancer pi3k-akt signaling pathway met in type 1 papillary renal cell carcinoma ebola virus infection in host ras signaling epithelial to mesenchymal transition in colorectal cancer non-small cell lung cancer pancreatic adenocarcinoma pathway nonalcoholic fatty liver disease resistin as a regulator of inflammation relationship between inflammation, cox-2 and egfr synaptic signaling pathways associated with autism spectrum disorder fragile x syndrome neural crest cell migration during development neural crest cell migration in cancer translation inhibitors in chronically activated pdgfra cells cancer immunotherapy by ctla4 blockade measles virus infection small cell lung cancer hepatitis b infection head and neck squamous cell carcinoma melanoma osteoblast differentiation and related diseases egfr tyrosine kinase inhibitor resistance insulin signaling mbdnf and probdnf regulation of gaba neurotransmission kisspeptin/kisspeptin receptor system in the ovary phosphoinositides metabolism malignant pleural mesothelioma regulation of actin cytoskeleton alzheimers disease resolvin e1 and resolvin d1 signaling pathways promoting inflammation resolution g13 signaling pathway fatty acids and lipoproteins transport in hepatocytes erbb signaling pathway dna damage response (only atm dependent) toll-like receptor signaling pathway tissues, cell types and enzyme sources animal phosphatidylinositol 3-kinase complex phosphatidylinositol 3-kinase complex, class ia phosphatidylinositol 3-kinase complex, class ib membrane extrinsic component of membrane protein-containing complex transferase complex, transferring phosphorus-containing groups phosphatidylinositol 3-kinase complex, class i membrane protein complex cellular anatomical entity catalytic complex transferase complex anthropometric measurement body weights and measures waist circumference hematological measurement mean platelet volume metabolite measurement platelet measurement urinary metabolite measurement autoimmune disease biomarker 3-hydroxypropylmercapturic acid measurement bmi-adjusted waist circumference atp-binding autophagy cell adhesion endocytosis kinase nucleus nucleotide-binding phosphoprotein transferase cytoplasm phosphatidylinositol 3-kinase ras-binding (pi3k rbd) domain phosphatidylinositol 3-/4-kinase, catalytic domain phosphoinositide 3-kinase, accessory (pik) domain c2 phosphatidylinositol 3-kinase-type domain phosphatidylinositol 3-kinase, adaptor-binding domain protein kinase-like domain superfamily phosphatidylinositol kinase armadillo-type fold phosphatidylinositol 3/4-kinase, conserved site ubiquitin-like domain superfamily c2 domain superfamily phosphatidylinositol 3-/4-kinase, catalytic domain superfamily pi3kbeta, catalytic domain phosphoinositide 3-kinase, accessory (pik) domain superfamily phosphoinositide 3-kinase, region postulated to contain c2 domain pi3-kinase family, p85-binding domain pi3-kinase family, ras-binding domain phosphoinositide 3-kinase family, accessory domain (pik domain) phosphoinositide 3-kinase, catalytic domain cell activation natural killer cell differentiation regulation of cytokine production positive regulation of cytokine production regulation of endothelial cell proliferation positive regulation of endothelial cell proliferation adaptive immune response immune effector process activation of immune response cell activation involved in immune response myeloid leukocyte activation myeloid cell activation involved in immune response mast cell activation involved in immune response leukocyte activation involved in immune response immune system process immune response-activating cell surface receptor signaling pathway leukocyte mediated immunity myeloid leukocyte mediated immunity mast cell mediated immunity immune system development leukocyte differentiation mast cell chemotaxis myeloid leukocyte differentiation respiratory burst involved in defense response regulation of immune system process positive regulation of immune system process immune response-activating signal transduction immune response-regulating signaling pathway immune response-regulating cell surface receptor signaling pathway protein phosphorylation lipid metabolic process phospholipid metabolic process glycerophospholipid metabolic process phosphatidylinositol biosynthetic process phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process transport exocytosis chemotaxis response to stress defense response inflammatory response immune response cell communication signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway multicellular organism development metabolic process positive regulation of cell population proliferation lipid biosynthetic process phospholipid biosynthetic process biosynthetic process response to external stimulus response to biotic stimulus positive regulation of metabolic process regulation of signal transduction positive regulation of signal transduction cellular process response to organic substance regulation of gene expression regulation of endothelial cell migration positive regulation of endothelial cell migration positive regulation of macromolecule metabolic process positive regulation of gene expression regulation of epithelial cell migration positive regulation of epithelial cell migration regulation of cell communication positive regulation of cell communication t cell chemotaxis regulation of cell death positive regulation of cell death phosphatidylinositol 3-kinase signaling vesicle-mediated transport phosphorylation cell migration regulation of metabolic process protein metabolic process organophosphate metabolic process regulation of anatomical structure morphogenesis regulation of signaling signaling positive regulation of signaling hemopoiesis lymphocyte differentiation myeloid cell differentiation natural killer cell activation cell differentiation b cell differentiation t cell differentiation regulation of cell migration positive regulation of cell migration neutrophil chemotaxis leukocyte chemotaxis lysosome localization multicellular organismal process developmental process secretion by cell regulation of neutrophil apoptotic process positive regulation of neutrophil apoptotic process regulation of myeloid cell apoptotic process positive regulation of myeloid cell apoptotic process intracellular signal transduction natural killer cell chemotaxis b cell chemotaxis cellular response to vascular endothelial growth factor stimulus phosphatidylinositol-3-phosphate biosynthetic process protein modification process vascular endothelial growth factor signaling pathway positive regulation of cell migration by vascular endothelial growth factor signaling pathway locomotion regulation of locomotion positive regulation of locomotion t cell activation b cell activation regulation of cell population proliferation response to chemical taxis regulation of apoptotic process positive regulation of apoptotic process regulation of programmed cell death positive regulation of programmed cell death macromolecule metabolic process response to external biotic stimulus leukocyte degranulation mast cell degranulation macromolecule modification cellular metabolic process primary metabolic process cellular biosynthetic process cellular lipid metabolic process biological process involved in interspecies interaction between organisms glycerolipid biosynthetic process regulated exocytosis innate immune response cellular extravasation leukocyte activation mast cell activation respiratory burst regulation of angiogenesis positive regulation of angiogenesis glycerophospholipid biosynthetic process glycerolipid metabolic process phosphatidylinositol metabolic process lymphocyte activation phosphatidylinositol phosphate biosynthetic process secretion phosphatidylinositol-mediated signaling inositol lipid-mediated signaling lymphocyte chemotaxis animal organ development positive regulation of biological process positive regulation of cellular process hematopoietic or lymphoid organ development regulation of response to stimulus positive regulation of response to stimulus system development anatomical structure development cellular developmental process cell motility regulation of epithelial cell proliferation positive regulation of epithelial cell proliferation regulation of immune response positive regulation of immune response regulation of biological process regulation of developmental process regulation of cellular process antigen receptor-mediated signaling pathway t cell receptor signaling pathway b cell receptor signaling pathway response to stimulus leukocyte migration positive regulation of developmental process localization establishment of localization regulation of multicellular organismal process positive regulation of multicellular organismal process organelle localization cellular localization establishment of localization in cell establishment of organelle localization response to other organism cellular response to stimulus regulation of protein kinase b signaling positive regulation of protein kinase b signaling regulation of macromolecule metabolic process cell chemotaxis mast cell differentiation biological regulation response to growth factor cellular response to chemical stimulus cellular response to organic substance cellular response to growth factor stimulus granulocyte chemotaxis mononuclear cell migration organic substance metabolic process neutrophil extravasation lymphocyte migration t cell migration organophosphate biosynthetic process myeloid leukocyte migration granulocyte migration mast cell migration defense response to other organism export from cell regulation of vasculature development organonitrogen compound metabolic process organic substance biosynthetic process regulation of intracellular signal transduction positive regulation of intracellular signal transduction mononuclear cell differentiation positive regulation of vasculature development regulation of epithelial tube formation positive regulation of epithelial tube formation regulation of morphogenesis of an epithelium positive regulation of morphogenesis of an epithelium neutrophil migration vacuolar localization regulation of multicellular organismal development regulation of leukocyte apoptotic process positive regulation of leukocyte apoptotic process regulation of cell motility positive regulation of cell motility nucleotide binding catalytic activity binding atp binding kinase activity 1-phosphatidylinositol-3-kinase activity phosphatidylinositol phosphate kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding phosphatidylinositol 3-kinase activity 1-phosphatidylinositol-4-phosphate 3-kinase activity purine ribonucleoside triphosphate binding small molecule binding ion binding anion binding phosphatidylinositol-4,5-bisphosphate 3-kinase activity phosphatidylinositol kinase activity phosphatidylinositol-3,4-bisphosphate 5-kinase activity phosphatidylinositol bisphosphate kinase activity organic cyclic compound binding carbohydrate derivative binding nucleoside phosphate binding heterocyclic compound binding intracellular anatomical structure cytoplasm cytosol plasma membrane phosphatidylinositol 3-kinase complex phosphatidylinositol 3-kinase complex, class ia membrane extrinsic component of membrane protein-containing complex transferase complex, transferring phosphorus-containing groups cell periphery phosphatidylinositol 3-kinase complex, class i membrane protein complex cellular anatomical entity catalytic complex transferase complex mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and tyrosine-protein kinase, catalytic domain mixed, incl. constitutive signaling by aberrant pi3k in cancer, and fceri mediated ca+2 mobilization gpvi-mediated activation cascade, and sh2 domain superfamily mixed, incl. gpvi-mediated activation cascade, and insulin receptor binding mixed, incl. signaling by erythropoietin, and insulin receptor complex phosphatidylinositol 3-kinase complex, class i, and insulin receptor complex phosphatidylinositol 3-kinase complex, class i, and insulin receptor substrate inositol phosphate metabolism metabolic pathways egfr tyrosine kinase inhibitor resistance endocrine resistance platinum drug resistance erbb signaling pathway ras signaling pathway rap1 signaling pathway camp signaling pathway chemokine signaling pathway hif-1 signaling pathway foxo signaling pathway phosphatidylinositol signaling system sphingolipid signaling pathway phospholipase d signaling pathway autophagy - animal mtor signaling pathway pi3k-akt signaling pathway ampk signaling pathway apoptosis longevity regulating pathway longevity regulating pathway - multiple species cellular senescence axon guidance vegf signaling pathway osteoclast differentiation focal adhesion signaling pathways regulating pluripotency of stem cells platelet activation toll-like receptor signaling pathway c-type lectin receptor signaling pathway jak-stat signaling pathway natural killer cell mediated cytotoxicity t cell receptor signaling pathway b cell receptor signaling pathway fc epsilon ri signaling pathway fc gamma r-mediated phagocytosis tnf signaling pathway leukocyte transendothelial migration neurotrophin signaling pathway cholinergic synapse inflammatory mediator regulation of trp channels regulation of actin cytoskeleton insulin signaling pathway progesterone-mediated oocyte maturation estrogen signaling pathway prolactin signaling pathway thyroid hormone signaling pathway regulation of lipolysis in adipocytes relaxin signaling pathway gnrh secretion type ii diabetes mellitus insulin resistance non-alcoholic fatty liver disease age-rage signaling pathway in diabetic complications growth hormone synthesis, secretion and action aldosterone-regulated sodium reabsorption carbohydrate digestion and absorption alzheimer disease spinocerebellar ataxia prion disease bacterial invasion of epithelial cells shigellosis salmonella infection yersinia infection chagas disease amoebiasis hepatitis c hepatitis b measles human cytomegalovirus infection influenza a human papillomavirus infection human t-cell leukemia virus 1 infection kaposi sarcoma-associated herpesvirus infection herpes simplex virus 1 infection epstein-barr virus infection human immunodeficiency virus 1 infection pathways in cancer viral carcinogenesis proteoglycans in cancer micrornas in cancer colorectal cancer renal cell carcinoma pancreatic cancer endometrial cancer glioma prostate cancer melanoma chronic myeloid leukemia acute myeloid leukemia small cell lung cancer non-small cell lung cancer breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer choline metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer fluid shear stress and atherosclerosis pip3 activates akt signaling developmental biology cytokine signaling in immune system adaptive immune system metabolism pi metabolism phospholipid metabolism signal transduction disease synthesis of pips at the plasma membrane immune system negative regulation of the pi3k/akt network pi3k/akt signaling in cancer constitutive signaling by aberrant pi3k in cancer axon guidance signaling by interleukins interleukin-2 family signaling interleukin-3, interleukin-5 and gm-csf signaling metabolism of lipids diseases of signal transduction by growth factor receptors and second messengers pi5p, pp2a and ier3 regulate pi3k/akt signaling ret signaling signaling by erythropoietin intracellular signaling by second messengers erythropoietin activates phosphoinositide-3-kinase (pi3k) interleukin receptor shc signaling regulation of signaling by cbl nervous system development antigen activates b cell receptor (bcr) leading to generation of second messengers signaling by the b cell receptor (bcr) amp-activated protein kinase signaling micrornas in cardiomyocyte hypertrophy alzheimers disease and mirna effects glioblastoma signaling pathways glycerophospholipid biosynthetic pathway nanoparticle-mediated activation of receptor signaling il-3 signaling pathway focal adhesion overview of nanoparticle effects angiopoietin-like protein 8 regulatory pathway chemokine signaling pathway embryonic stem cell pluripotency pathways focal adhesion: pi3k-akt-mtor-signaling pathway microglia pathogen phagocytosis pathway il-4 signaling pathway endometrial cancer pi3k-akt signaling pathway met in type 1 papillary renal cell carcinoma ebola virus infection in host ras signaling epithelial to mesenchymal transition in colorectal cancer non-small cell lung cancer breast cancer pathway pancreatic adenocarcinoma pathway nonalcoholic fatty liver disease resistin as a regulator of inflammation relationship between inflammation, cox-2 and egfr synaptic signaling pathways associated with autism spectrum disorder neural crest cell migration during development neural crest cell migration in cancer cancer immunotherapy by ctla4 blockade measles virus infection small cell lung cancer hepatitis b infection melanoma osteoblast differentiation and related diseases egfr tyrosine kinase inhibitor resistance insulin signaling kisspeptin/kisspeptin receptor system in the ovary phosphoinositides metabolism malignant pleural mesothelioma t-cell activation sars-cov-2 regulation of actin cytoskeleton alzheimers disease resolvin e1 and resolvin d1 signaling pathways promoting inflammation resolution g13 signaling pathway interferon type i signaling pathways erbb signaling pathway dna damage response (only atm dependent) toll-like receptor signaling pathway monogenic disease autosomal dominant disease autosomal genetic disease hypersensitivity reaction disease immunodeficiency 14 combined immunodeficiency immune system disease hypersensitivity reaction type iv disease disease primary immunodeficiency disease combined t cell and b cell immunodeficiency genetic disease autoimmune lymphoproliferative syndrome disease of anatomical entity tissues, cell types and enzyme sources animal blood hematopoietic system hematopoietic cell blood cancer cell bone marrow cancer cell leukocyte leukemia cell whole body intracellular cytoplasm cytosol phosphatidylinositol 3-kinase complex phosphatidylinositol 3-kinase complex, class ia membrane extrinsic component of membrane protein-containing complex transferase complex, transferring phosphorus-containing groups phosphatidylinositol 3-kinase complex, class i membrane protein complex cellular anatomical entity catalytic complex transferase complex leukocyte count hematological measurement complete blood cell count monocyte count mental or behavioural disorder biomarker response to diisocyanate personality trait measurement systemising measurement recurrent urinary tract infections abnormality of the kidney abnormality of the urinary system ectopic kidney renal agenesis phenotypic abnormality abnormality of the genitourinary system unilateral renal agenesis abnormality of head or neck abnormality of the mouth abnormal lip morphology abnormal oral cavity morphology abnormal lower lip morphology thin vermilion border abnormality of the head abnormality of the face facial edema abnormality of the forehead abnormality of the chin abnormality of the orbital region hypertelorism high forehead abnormality of the outer ear abnormality of the nose abnormal pinna morphology protruding ear abnormal nasal bridge morphology abnormal morphology of the nasal alae wide nasal bridge abnormal nasal tip morphology broad nasal tip anteverted nares abnormality of the neck short neck abnormality of the eye deeply set eye abnormal eyelid morphology nasolacrimal duct obstruction abnormality of the optic nerve abnormality of the ear abnormality of the periorbital region optic nerve hypoplasia abnormal nasolacrimal system morphology optic atrophy abnormality of the nervous system abnormality of the breast abnormality of the skeletal system abnormality of the vertebral column abnormal skull morphology osteopenia abnormality of the skin hyperpigmentation of the skin edema hypertrichosis abnormality of skin pigmentation abnormal fundus morphology abnormality of the hand abnormality of finger abnormal thumb morphology intellectual disability seizure ataxia hypotonia global developmental delay neonatal hypotonia tremor abnormal joint morphology arthritis abnormal abdomen morphology broad finger umbilical hernia abnormal umbilicus morphology abnormality of the integument recurrent skin infections abnormal hair morphology abnormality of the cardiovascular system abnormality of the spleen splenomegaly abnormal foot morphology pes cavus abnormal metatarsal morphology abnormality of blood and blood-forming tissues abnormal leukocyte morphology lymphopenia abnormality of metabolism/homeostasis aplasia/hypoplasia of metatarsal bones abnormal scalp morphology abnormal facial shape frontal bossing morphological central nervous system abnormality abnormality of the abdominal organs diarrhea gastroesophageal reflux myopathic facies intention tremor abnormality of the respiratory system abnormal lung morphology pneumonia respiratory insufficiency recurrent aspiration pneumonia bronchiectasis abnormal cerebral ventricle morphology ventriculomegaly generalized myoclonic seizure low posterior hairline generalized-onset seizure recurrent respiratory infections action tremor positive romberg sign abnormality of the vasculature neonatal respiratory distress abnormal calvaria morphology abnormality of the immune system lymphadenopathy recurrent bacterial infections recurrent infections decreased circulating iga level immunodeficiency chronic mucocutaneous candidiasis abnormal lymph node morphology abnormal respiratory system physiology abnormality of limb bone morphology abnormality of the lower limb abnormality of the upper limb recurrent fungal infections abnormal t cell morphology abnormal b cell morphology decreased circulating total igm aplasia/hypoplasia involving the central nervous system abnormality of the musculature short long bone visceromegaly hyperlordosis abnormality of the cervical spine abnormal bone structure decreased circulating total iga somatic sensory dysfunction increased circulating igm level abnormality of connective tissue psoriasiform dermatitis abnormal muscle tone deviation of finger abnormal 2nd finger morphology abnormal 3rd finger morphology abnormal 4th finger morphology abnormality of the abdominal wall hernia of the abdominal wall involuntary movements decreased circulating antibody level decreased circulating igg level abnormal posterior eye segment morphology abnormal lymphocyte morphology abnormality of bone mineral density reduced bone mineral density abnormal nipple morphology flat forehead recurrent viral infections decreased facial expression abnormal nasal morphology depressed nasal bridge abnormal nostril morphology abnormal facial expression abnormality of humoral immunity abnormality of b cell physiology combined immunodeficiency t lymphocytopenia decreased proportion of cd4-positive helper t cells recurrent sinopulmonary infections abnormal tracheobronchial morphology broad long bones aplasia/hypoplasia involving the metacarpal bones abnormal metacarpal morphology abnormal finger phalanx morphology abnormal hand morphology aplasia/hypoplasia involving bones of the hand abnormal epiphysis morphology broad phalanx aplasia/hypoplasia of fingers aplasia/hypoplasia involving bones of the lower limbs aplasia/hypoplasia involving bones of the feet aplasia/hypoplasia involving bones of the upper limbs wide intermamillary distance lacrimal duct stenosis aplasia/hypoplasia affecting the eye aplasia/hypoplasia affecting the fundus aplasia/hypoplasia of the optic nerve decreased circulating igg2 level renal hypoplasia/aplasia chronic oral candidiasis aplasia/hypoplasia involving the skeleton abnormal axial skeleton morphology deviation of the 4th finger deviation of the 3rd finger short finger deviation of the 2nd finger deviation of the hand or of fingers of the hand abnormality of the hairline aplasia/hypoplasia of the thumb abnormality of thumb phalanx abnormality of the distal phalanx of the thumb aplasia/hypoplasia of the distal phalanx of the thumb short distal phalanx of the thumb aplasia/hypoplasia of the phalanges of the thumb short phalanx of the thumb aplasia/hypoplasia of the phalanges of the hand broad phalanges of the hand short thumb short phalanx of finger aplasia/hypoplasia of the extremities abnormal distal phalanx morphology of finger abnormal middle phalanx morphology of the hand aplasia/hypoplasia of the distal phalanges of the hand broad middle phalanx of finger short distal phalanx of finger underdeveloped supraorbital ridges short metacarpal thin lower lip vermilion cone-shaped epiphysis abnormality of the curvature of the vertebral column abnormal immunoglobulin level increased circulating antibody level abnormal hair pattern short metatarsal dermatochalasis impaired proprioception abdominal wall defect abnormality of the upper urinary tract abnormal external nose morphology abnormal b cell count b lymphocytopenia abnormality of immune system physiology abnormal cellular immune system morphology abnormal systemic arterial morphology abnormal cellular physiology abnormality of the gastrointestinal tract abnormality of fluid regulation abnormality of skin morphology abnormality of skin physiology inflammatory abnormality of the skin abnormality of skin adnexa morphology abnormal shape of the frontal region abnormality of the urinary system physiology abnormal digit morphology abnormal long bone morphology congenital abnormal hair pattern abnormal hair quantity recurrent cutaneous fungal infections abnormal central motor function abnormality of coordination abnormality of higher mental function abdominal symptom abnormal lacrimal duct morphology abnormality of facial soft tissue abnormal muscle physiology abnormal t cell count abnormal skeletal morphology abnormal appendicular skeleton morphology abnormal bone ossification abnormal leukocyte count short digit respiratory tract infection aspiration pneumonia feeding difficulties abnormal natural killer cell morphology abnormal renal morphology abnormal respiratory system morphology abnormal homeostasis abnormal eye morphology abnormality of brain morphology decreased circulating level of specific antibody decreased specific pneumococcal antibody level abnormal nervous system physiology abnormal nervous system morphology abnormal inflammatory response increased inflammatory response functional abnormality of the gastrointestinal tract neurodevelopmental delay neurodevelopmental abnormality abnormal optic disc morphology unusual fungal infection motor seizure abnormal vascular morphology abnormality of the digestive system abnormality of digestive system physiology abnormal esophagus physiology abnormal cellular phenotype abnormal spleen morphology abnormal bronchus morphology abnormal b cell subset distribution abnormal t cell subset distribution abnormal neck morphology clinodactyly abnormality of the posterior hairline kinetic tremor abnormal proportion of memory b cells decreased proportion of memory b cells abnormal proportion of transitional b cells increased proportion of transitional b cells abnormal proportion of class-switched memory b cells decreased proportion of class-switched memory b cells abnormal ocular adnexa morphology abnormality of cardiovascular system morphology arteria lusoria abnormal breast morphology abnormal subclavian artery morphology abnormal cell proliferation abnormal lymphocyte proliferation decreased lymphocyte proliferation in response to mitogen decreased lymphocyte proliferation in response to anti-cd3 abnormal proportion of cd4-positive t cells impaired antigen-specific response abnormal lymphocyte physiology abnormal ear morphology abnormal oral morphology abnormality of the ocular adnexa unusual infection decreased circulating total igg decreased circulating igg subclass level decreased specific antibody response to vaccination decreased proportion of cd4-positive t cells abnormal immune system morphology generalized-onset motor seizure myoclonic seizure abnormality of the musculoskeletal system abnormal blood vessel morphology tube feeding abnormal leukocyte physiology finger clinodactyly clinodactyly of the 2nd finger clinodactyly of the 3rd finger clinodactyly of the 4th finger abnormality of limbs abnormality of limb bone abnormal lower limb bone morphology abnormal upper limb bone morphology abnormal lymphocyte count abnormal natural killer cell count abnormal intermamillary distance reduced natural killer cell count nasogastric tube feeding aplasia/hypoplasia involving bones of the extremities abnormality of movement abnormality of the scalp hair abnormality of the supraorbital ridges periorbital edema palpebral edema abnormal localization of kidney cognitive impairment cellulitis dyskinesia abnormality of the lymphatic system hernia abnormality of globe location recurrent ear infections abnormal circulating iga level abnormal circulating igg level abnormal circulating igm level abnormal frontal bone morphology abnormal proportion of cd4-positive helper t cells alternative splicing atp-binding chemotaxis differentiation immunity inflammatory response innate immunity kinase nucleotide-binding phosphoprotein transferase cytoplasm adaptive immunity phosphatidylinositol 3-kinase ras-binding (pi3k rbd) domain phosphatidylinositol 3-/4-kinase, catalytic domain phosphoinositide 3-kinase, accessory (pik) domain c2 phosphatidylinositol 3-kinase-type domain phosphatidylinositol 3-kinase, adaptor-binding domain protein kinase-like domain superfamily phosphatidylinositol kinase armadillo-type fold phosphatidylinositol 3/4-kinase, conserved site ubiquitin-like domain superfamily c2 domain superfamily phosphatidylinositol 3-/4-kinase, catalytic domain superfamily pi3kdelta, catalytic domain phosphoinositide 3-kinase, accessory (pik) domain superfamily phosphoinositide 3-kinase, region postulated to contain c2 domain pi3-kinase family, p85-binding domain pi3-kinase family, ras-binding domain phosphoinositide 3-kinase family, accessory domain (pik domain) phosphoinositide 3-kinase, catalytic domain cell morphogenesis cell morphogenesis involved in differentiation cellular glucose homeostasis cell activation regulation of cytokine production positive regulation of cytokine production regulation of cell-matrix adhesion negative regulation of cell-matrix adhesion immune system process immune system development leukocyte differentiation myeloid leukocyte differentiation regulation of immune system process negative regulation of immune system process positive regulation of immune system process regulation of leukocyte migration positive regulation of leukocyte migration regulation of myeloid leukocyte differentiation negative regulation of myeloid leukocyte differentiation nucleobase-containing compound metabolic process transcription, dna-templated regulation of transcription, dna-templated regulation of transcription by rna polymerase ii transcription by rna polymerase ii protein phosphorylation protein import into nucleus lipid metabolic process phospholipid metabolic process glycerophospholipid metabolic process phosphatidylinositol biosynthetic process cellular aromatic compound metabolic process phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process transport intracellular protein transport nucleocytoplasmic transport apoptotic process response to stress immune response cellular response to dna damage stimulus cell communication cell adhesion negative regulation of cell adhesion signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway multicellular organism development protein localization metabolic process cell death insulin receptor signaling pathway lipid biosynthetic process extrinsic apoptotic signaling pathway via death domain receptors intrinsic apoptotic signaling pathway in response to dna damage phospholipid biosynthetic process biosynthetic process macromolecule biosynthetic process response to radiation response to uv response to light stimulus response to abiotic stimulus anatomical structure morphogenesis response to endogenous stimulus response to hormone regulation of biosynthetic process positive regulation of biosynthetic process positive regulation of metabolic process regulation of signal transduction positive regulation of signal transduction cellular process response to organic substance response to organonitrogen compound gene expression regulation of gene expression regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process regulation of lamellipodium assembly positive regulation of lamellipodium assembly positive regulation of macromolecule metabolic process positive regulation of gene expression negative regulation of organelle organization regulation of cell communication positive regulation of cell communication regulation of cell-substrate adhesion negative regulation of cell-substrate adhesion regulation of glucose transmembrane transport positive regulation of glucose transmembrane transport regulation of cell death programmed cell death phosphatidylinositol 3-kinase signaling protein transport rna metabolic process phosphorylation cell migration heterocycle biosynthetic process regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process aromatic compound biosynthetic process protein metabolic process organophosphate metabolic process cellular homeostasis regulation of signaling signaling positive regulation of signaling hemopoiesis lymphocyte differentiation myeloid cell differentiation cell differentiation regulation of cell adhesion b cell differentiation t cell differentiation osteoclast differentiation regulation of cell migration positive regulation of cell migration regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process regulation of cell projection organization positive regulation of cell projection organization cell-substrate adhesion regulation of protein stability regulation of actin filament bundle assembly negative regulation of actin filament bundle assembly regulation of intracellular transport positive regulation of intracellular transport multicellular organismal process developmental process regulation of tumor necrosis factor production positive regulation of tumor necrosis factor production rna biosynthetic process response to insulin cellular response to insulin stimulus cellular response to hormone stimulus regulation of localization regulation of protein localization regulation of actin cytoskeleton organization regulation of actin filament-based process macromolecule localization regulation of organelle organization positive regulation of rna splicing regulation of intracellular protein transport protein localization to organelle carbohydrate homeostasis cellular response to stress substrate adhesion-dependent cell spreading protein localization to nucleus cellular nitrogen compound metabolic process cellular response to uv nucleobase-containing compound biosynthetic process regulation of transmembrane transport positive regulation of transmembrane transport response to endoplasmic reticulum stress intracellular signal transduction protein modification process regulation of locomotion positive regulation of locomotion t cell activation b cell activation response to chemical regulation of protein import into nucleus positive regulation of protein import into nucleus regulation of phosphorylation homeostatic process glucose homeostasis regulation of apoptotic process negative regulation of apoptotic process regulation of programmed cell death negative regulation of programmed cell death macromolecule metabolic process macromolecule modification response to peptide hormone regulation of rna splicing regulation of kinase activity regulation of lipid kinase activity regulation of phosphatidylinositol 3-kinase activity regulation of cellular component biogenesis positive regulation of cellular component biogenesis cellular metabolic process primary metabolic process cellular biosynthetic process cellular lipid metabolic process cellular nitrogen compound biosynthetic process glycerolipid biosynthetic process establishment of protein localization leukocyte activation regulation of cell differentiation negative regulation of cell differentiation regulation of myeloid cell differentiation negative regulation of myeloid cell differentiation regulation of osteoclast differentiation negative regulation of osteoclast differentiation positive regulation of transcription, dna-templated positive regulation of nucleobase-containing compound metabolic process positive regulation of transcription by rna polymerase ii regulation of glucose import positive regulation of glucose import glycerophospholipid biosynthetic process heterocycle metabolic process glycerolipid metabolic process phosphatidylinositol metabolic process regulation of insulin receptor signaling pathway lymphocyte activation regulation of nucleocytoplasmic transport positive regulation of nucleocytoplasmic transport phosphatidylinositol phosphate biosynthetic process intracellular transport insulin-like growth factor receptor signaling pathway phosphatidylinositol-mediated signaling inositol lipid-mediated signaling cell development animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process hematopoietic or lymphoid organ development regulation of response to stimulus positive regulation of response to stimulus system development anatomical structure development cellular developmental process cell motility chemical homeostasis regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process protein stabilization response to stimulus leukocyte migration regulation of transport positive regulation of transport negative regulation of developmental process regulation of cellular component organization negative regulation of cellular component organization positive regulation of cellular component organization nuclear transport import into nucleus regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process localization positive regulation of protein transport regulation of protein transport establishment of localization regulation of multicellular organismal process positive regulation of multicellular organismal process negative regulation of multicellular organismal process regulation of rna metabolic process positive regulation of rna metabolic process regulation of transferase activity regulation of filopodium assembly positive regulation of filopodium assembly regulation of stress fiber assembly regulation of cytoskeleton organization negative regulation of cytoskeleton organization negative regulation of stress fiber assembly cellular localization establishment of localization in cell cellular response to stimulus cellular chemical homeostasis regulation of macromolecule metabolic process regulation of cellular localization growth hormone receptor signaling pathway response to growth hormone regulation of cell projection assembly negative regulation of cell death biological regulation regulation of biological quality regulation of molecular function regulation of establishment of protein localization cellular macromolecule localization cellular response to chemical stimulus cellular response to abiotic stimulus cellular response to organic substance cellular response to peptide hormone stimulus cellular response to growth hormone stimulus cellular response to organonitrogen compound cellular response to radiation cellular response to light stimulus cellular response to endogenous stimulus organic substance transport organic substance metabolic process nitrogen compound transport establishment of protein localization to organelle regulation of primary metabolic process regulation of response to stress regulation of cellular response to stress nucleic acid metabolic process positive regulation of intracellular protein transport organophosphate biosynthetic process apoptotic signaling pathway extrinsic apoptotic signaling pathway intrinsic apoptotic signaling pathway myeloid leukocyte migration nucleic acid-templated transcription cellular response to environmental stimulus regulation of actomyosin structure organization regulation of actin filament organization regulation of plasma membrane bounded cell projection assembly positive regulation of plasma membrane bounded cell projection assembly regulation of plasma membrane bounded cell projection organization regulation of focal adhesion disassembly positive regulation of focal adhesion disassembly regulation of cell-substrate junction organization positive regulation of cell-substrate junction organization regulation of endoplasmic reticulum unfolded protein response positive regulation of endoplasmic reticulum unfolded protein response regulation of protein localization to nucleus positive regulation of protein localization to nucleus organic cyclic compound metabolic process organic cyclic compound biosynthetic process organonitrogen compound metabolic process organic substance biosynthetic process response to peptide cellular response to peptide response to nitrogen compound cellular response to nitrogen compound response to oxygen-containing compound cellular response to oxygen-containing compound regulation of leukocyte differentiation negative regulation of leukocyte differentiation positive regulation of rna biosynthetic process regulation of lamellipodium organization positive regulation of lamellipodium organization regulation of supramolecular fiber organization negative regulation of supramolecular fiber organization regulation of protein localization to plasma membrane positive regulation of protein localization to plasma membrane mononuclear cell differentiation regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription regulation of tumor necrosis factor superfamily cytokine production positive regulation of tumor necrosis factor superfamily cytokine production regulation of hemopoiesis negative regulation of hemopoiesis positive regulation of protein localization regulation of protein localization to cell periphery positive regulation of protein localization to cell periphery positive regulation of establishment of protein localization regulation of protein localization to membrane positive regulation of protein localization to membrane regulation of response to endoplasmic reticulum stress positive regulation of response to endoplasmic reticulum stress regulation of multicellular organismal development regulation of cell motility positive regulation of cell motility regulation of rna biosynthetic process phosphotyrosine residue binding transmembrane receptor protein tyrosine kinase adaptor activity signaling receptor binding cytokine receptor binding insulin receptor binding insulin-like growth factor receptor binding neurotrophin receptor binding neurotrophin trk receptor binding neurotrophin trka receptor binding binding protein binding peptide hormone binding kinase regulator activity enzyme binding kinase binding protein kinase binding phosphatase binding protein phosphatase binding signaling receptor complex adaptor activity enzyme regulator activity protein-macromolecule adaptor activity receptor tyrosine kinase binding amide binding phosphatidylinositol 3-kinase regulator activity signaling adaptor activity phosphatidylinositol 3-kinase regulatory subunit binding peptide binding hormone binding erbb-3 class receptor binding phosphatidylinositol 3-kinase binding insulin binding insulin receptor substrate binding protein-containing complex binding protein phosphorylated amino acid binding 1-phosphatidylinositol-3-kinase regulator activity protein heterodimerization activity protein dimerization activity phosphoprotein binding molecular adaptor activity molecular function regulator activity protein tyrosine kinase binding intracellular anatomical structure nucleus cytoplasm endoplasmic reticulum golgi apparatus cis-golgi network cytosol plasma membrane cell-cell junction phosphatidylinositol 3-kinase complex phosphatidylinositol 3-kinase complex, class ia endomembrane system membrane extrinsic component of membrane cell junction organelle membrane protein-containing complex nuclear outer membrane-endoplasmic reticulum membrane network organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle perinuclear region of cytoplasm transferase complex, transferring phosphorus-containing groups anchoring junction cell periphery perinuclear endoplasmic reticulum phosphatidylinositol 3-kinase complex, class i membrane protein complex cellular anatomical entity catalytic complex transferase complex perinuclear endoplasmic reticulum membrane mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and tyrosine-protein kinase, catalytic domain mixed, incl. constitutive signaling by aberrant pi3k in cancer, and fceri mediated ca+2 mobilization gpvi-mediated activation cascade, and sh2 domain superfamily mixed, incl. gpvi-mediated activation cascade, and insulin receptor binding mixed, incl. signaling by erythropoietin, and insulin receptor complex phosphatidylinositol 3-kinase complex, class i, and insulin receptor complex phosphatidylinositol 3-kinase complex, class i, and insulin receptor substrate pi3k/akt activation egfr tyrosine kinase inhibitor resistance endocrine resistance platinum drug resistance erbb signaling pathway ras signaling pathway rap1 signaling pathway camp signaling pathway chemokine signaling pathway hif-1 signaling pathway foxo signaling pathway phosphatidylinositol signaling system sphingolipid signaling pathway phospholipase d signaling pathway autophagy - animal mtor signaling pathway pi3k-akt signaling pathway ampk signaling pathway apoptosis longevity regulating pathway longevity regulating pathway - multiple species cellular senescence axon guidance vegf signaling pathway osteoclast differentiation focal adhesion signaling pathways regulating pluripotency of stem cells platelet activation toll-like receptor signaling pathway c-type lectin receptor signaling pathway jak-stat signaling pathway natural killer cell mediated cytotoxicity t cell receptor signaling pathway b cell receptor signaling pathway fc epsilon ri signaling pathway fc gamma r-mediated phagocytosis tnf signaling pathway leukocyte transendothelial migration neurotrophin signaling pathway cholinergic synapse inflammatory mediator regulation of trp channels regulation of actin cytoskeleton insulin signaling pathway progesterone-mediated oocyte maturation estrogen signaling pathway prolactin signaling pathway thyroid hormone signaling pathway regulation of lipolysis in adipocytes relaxin signaling pathway gnrh secretion type ii diabetes mellitus insulin resistance non-alcoholic fatty liver disease age-rage signaling pathway in diabetic complications growth hormone synthesis, secretion and action aldosterone-regulated sodium reabsorption carbohydrate digestion and absorption alzheimer disease spinocerebellar ataxia prion disease bacterial invasion of epithelial cells shigellosis yersinia infection chagas disease amoebiasis hepatitis c hepatitis b measles human cytomegalovirus infection influenza a human papillomavirus infection human t-cell leukemia virus 1 infection kaposi sarcoma-associated herpesvirus infection herpes simplex virus 1 infection epstein-barr virus infection human immunodeficiency virus 1 infection pathways in cancer viral carcinogenesis proteoglycans in cancer micrornas in cancer colorectal cancer renal cell carcinoma pancreatic cancer endometrial cancer glioma prostate cancer melanoma chronic myeloid leukemia acute myeloid leukemia small cell lung cancer non-small cell lung cancer breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer choline metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer fluid shear stress and atherosclerosis hemostasis pi3k cascade irs-mediated signalling gpvi-mediated activation cascade signaling by fgfr in disease signaling by erbb2 signaling by erbb2 in cancer constitutive signaling by ligand-responsive egfr cancer variants signaling by erbb4 pi3k events in erbb4 signaling pip3 activates akt signaling interleukin-7 signaling developmental biology cytokine signaling in immune system adaptive immune system metabolism signaling by scf-kit pi metabolism phospholipid metabolism cell-cell communication signal transduction disease signaling by egfr in cancer synthesis of pips at the plasma membrane signaling by ntrks innate immune system immune system signaling by egfr gab1 signalosome signaling by cytosolic fgfr1 fusion mutants fgfr1 mutant receptor activation downstream signal transduction signaling by pdgf signaling by ntrk1 (trka) signaling by fgfr signaling by vegf signaling by rho gtpases pi3k events in erbb2 signaling pi3k/akt activation negative regulation of the pi3k/akt network signaling by alk tcr signaling downstream tcr signaling cell surface interactions at the vascular wall fcgamma receptor (fcgr) dependent phagocytosis role of phospholipids in phagocytosis tie2 signaling dap12 interactions pi3k/akt signaling in cancer constitutive signaling by aberrant pi3k in cancer signaling by type 1 insulin-like growth factor 1 receptor (igf1r) dap12 signaling igf1r signaling cascade irs-related events triggered by igf1r fc epsilon receptor (fceri) signaling role of lat2/ntal/lab on calcium mobilization signaling by gpcr nephrin family interactions gpcr downstream signalling costimulation by the cd28 family cd28 co-stimulation cd28 dependent pi3k/akt signaling g alpha (q) signalling events axon guidance gp1b-ix-v activation signalling vegfa-vegfr2 pathway signaling by interleukins interleukin-2 family signaling interleukin-3, interleukin-5 and gm-csf signaling metabolism of lipids constitutive signaling by egfrviii signaling by egfrviii in cancer signaling by ligand-responsive egfr variants in cancer downstream signaling of activated fgfr1 pi-3k cascade:fgfr1 pi-3k cascade:fgfr2 downstream signaling of activated fgfr2 downstream signaling of activated fgfr3 pi-3k cascade:fgfr3 downstream signaling of activated fgfr4 pi-3k cascade:fgfr4 signaling by fgfr1 signaling by fgfr2 signaling by fgfr3 signaling by fgfr4 signaling by fgfr2 in disease signaling by fgfr4 in disease signaling by fgfr1 in disease signaling by fgfr3 in disease diseases of signal transduction by growth factor receptors and second messengers raf/map kinase cascade mapk family signaling cascades mapk1/mapk3 signaling interleukin-4 and interleukin-13 signaling signaling by met pi5p, pp2a and ier3 regulate pi3k/akt signaling insulin receptor signalling cascade signaling by insulin receptor platelet activation, signaling and aggregation met activates pi3k/akt signaling ret signaling esr-mediated signaling rhoa gtpase cycle signaling by ntrk2 (trkb) signaling by erythropoietin intracellular signaling by second messengers signaling by nuclear receptors signaling by receptor tyrosine kinases extra-nuclear estrogen signaling rho gtpase cycle rhob gtpase cycle rhoc gtpase cycle cdc42 gtpase cycle rac1 gtpase cycle rac2 gtpase cycle rhod gtpase cycle rhog gtpase cycle rhoj gtpase cycle rhou gtpase cycle rac3 gtpase cycle rhov gtpase cycle erythropoietin activates phosphoinositide-3-kinase (pi3k) activated ntrk2 signals through pi3k signaling by ntrk3 (trkc) rhof gtpase cycle interleukin receptor shc signaling regulation of signaling by cbl activated ntrk3 signals through pi3k flt3 signaling signaling by erbb2 kd mutants signaling by erbb2 ecd mutants signaling by kit in disease signaling by phosphorylated juxtamembrane, extracellular and kinase domain kit mutants signaling by pdgfr in disease signaling by pdgfra transmembrane, juxtamembrane and kinase domain mutants signaling by pdgfra extracellular domain mutants nervous system development signaling by csf1 (m-csf) in myeloid cells flt3 signaling in disease rnd3 gtpase cycle rnd2 gtpase cycle rnd1 gtpase cycle signaling by alk in cancer signaling by flt3 fusion proteins signaling by flt3 itd and tkd mutants signaling by rho gtpases, miro gtpases and rhobtb3 signaling by alk fusions and activated point mutants antigen activates b cell receptor (bcr) leading to generation of second messengers signaling by the b cell receptor (bcr) il-5 signaling pathway androgen receptor signaling pathway amp-activated protein kinase signaling micrornas in cardiomyocyte hypertrophy il-1 signaling pathway rankl/rank signaling pathway thyroid stimulating hormone (tsh) signaling pathway leptin signaling pathway prolactin signaling pathway il-7 signaling pathway alzheimers disease and mirna effects il-9 signaling pathway metastatic brain tumor glioblastoma signaling pathways b cell receptor signaling pathway interleukin-11 signaling pathway oncostatin m signaling pathway brain-derived neurotrophic factor (bdnf) signaling pathway alpha 6 beta 4 signaling pathway pdgf pathway apoptosis bladder cancer il-3 signaling pathway kit receptor signaling pathway focal adhesion rac1/pak1/p38/mmp2 pathway il6 signaling pathway tgf-beta signaling pathway pi3k-akt-mtor signaling pathway and therapeutic opportunities vegfa-vegfr2 signaling angiopoietin-like protein 8 regulatory pathway chemokine signaling pathway focal adhesion: pi3k-akt-mtor-signaling pathway microglia pathogen phagocytosis pathway il-4 signaling pathway pdgfr-beta pathway endometrial cancer pi3k-akt signaling pathway met in type 1 papillary renal cell carcinoma ebola virus infection in host ras signaling epithelial to mesenchymal transition in colorectal cancer non-small cell lung cancer breast cancer pathway pancreatic adenocarcinoma pathway acute viral myocarditis egf/egfr signaling pathway nonalcoholic fatty liver disease synaptic signaling pathways associated with autism spectrum disorder overview of interferons-mediated signaling pathway translation inhibitors in chronically activated pdgfra cells cancer immunotherapy by ctla4 blockade measles virus infection small cell lung cancer gastrin signaling pathway hepatitis b infection head and neck squamous cell carcinoma melanoma il-18 signaling pathway osteoblast differentiation and related diseases egfr tyrosine kinase inhibitor resistance insulin signaling mbdnf and probdnf regulation of gaba neurotransmission il-2 signaling pathway modulators of tcr signaling and t cell activation t-cell activation sars-cov-2 regulation of actin cytoskeleton alzheimers disease roles of ceramides in development of insulin resistance trop2 regulatory signaling interferon type i signaling pathways notch signaling pathway erbb signaling pathway t-cell receptor signaling pathway dna damage response (only atm dependent) toll-like receptor signaling pathway monogenic disease autosomal dominant disease autosomal genetic disease short syndrome immunodeficiency 14 immunodeficiency 36 combined immunodeficiency syndrome immune system disease disease primary immunodeficiency disease combined t cell and b cell immunodeficiency genetic disease disease of anatomical entity tissues, cell types and enzyme sources animal reproductive system female reproductive system brain embryonic structure central nervous system head organism form fetus blood cancer cell lymphocytic leukemia cell muscle placenta skeletal muscle leukemia cell vertebrate muscular system nervous system muscular system skeletal system whole body chronic lymphocytic leukemia cell urogenital system internal female genital organ intracellular cytoplasm cytosol phosphatidylinositol 3-kinase complex phosphatidylinositol 3-kinase complex, class ia membrane extrinsic component of membrane protein-containing complex transferase complex, transferring phosphorus-containing groups phosphatidylinositol 3-kinase complex, class i membrane protein complex cellular anatomical entity catalytic complex transferase complex sign or symptom anthropometric measurement erythrocyte indices body weights and measures body weight body height waist circumference birth weight hematological measurement hemoglobin measurement mean corpuscular volume mean corpuscular hemoglobin mean corpuscular hemoglobin concentration protein measurement self reported educational attainment lean body mass erythrocyte measurement red blood cell distribution width parental genotype effect measurement bmi-adjusted waist circumference genotype effect measurement reticulocyte measurement mean reticulocyte volume educational attainment abnormality of body height inguinal hernia phenotypic abnormality abnormality of head or neck abnormality of the mouth abnormal oral cavity morphology abnormality of the dentition abnormal palate morphology high palate abnormality of the head abnormal paranasal sinus morphology sinusitis abnormality of the face malar flattening abnormal mandible morphology epicanthus abnormality of the forehead abnormality of the chin abnormal midface morphology abnormality of the orbital region hypertelorism triangular face prominent supraorbital ridges micrognathia abnormality of the outer ear hearing abnormality hearing impairment abnormality of the nose abnormality of the middle ear abnormal pinna morphology otitis media chronic otitis media macrotia sensorineural hearing impairment abnormal nasal bridge morphology abnormal morphology of the nasal alae underdeveloped nasal alae wide nasal bridge abnormality of the eye abnormal cornea morphology megalocornea deeply set eye abnormal eyelid morphology glaucoma abnormal conjunctiva morphology telecanthus conjunctivitis abnormal lens morphology cataract abnormality iris morphology abnormality of refraction myopia abnormal uvea morphology rieger anomaly abnormal anterior chamber morphology abnormality of the ear abnormality of the periorbital region abnormal pupil morphology posterior embryotoxon hypodontia abnormal dental enamel morphology delayed eruption of teeth dental malocclusion microdontia tooth malposition abnormality of the nervous system delayed speech and language development abnormality of the endocrine system diabetes mellitus insulin-resistant diabetes mellitus insulin resistance abnormality of the skeletal system abnormality of skeletal maturation abnormal skull morphology abnormality of the skin thin skin skin rash abnormality of corneal size abnormality of the hand brachydactyly abnormality of finger meningitis abnormal joint morphology arthritis joint hypermobility joint laxity abnormality of the liver abnormal abdomen morphology growth abnormality failure to thrive growth delay intrauterine growth retardation small for gestational age abnormality of the integument recurrent skin infections abnormal hair morphology alopecia abnormality of the cardiovascular system abnormality of the spleen splenomegaly weight loss abnormality of blood and blood-forming tissues abnormality of neutrophils neutropenia abnormal leukocyte morphology lymphopenia leukemia abnormal granulocyte morphology abnormality of metabolism/homeostasis dehydration fever glucose intolerance abnormal facial shape frontal bossing morphological central nervous system abnormality abnormality of the abdominal organs diarrhea malabsorption chronic diarrhea abnormality of the respiratory system abnormality of the upper respiratory tract abnormal lung morphology bronchiectasis neurological speech impairment recurrent respiratory infections abnormal intestine morphology language impairment abnormality of the vasculature neoplasm lymphoma abnormal calvaria morphology downturned corners of mouth abnormality of the immune system recurrent bacterial infections recurrent infections immunodeficiency delayed skeletal maturation osteomyelitis abnormal respiratory system physiology abnormality of limb bone morphology abnormality of the upper limb autoimmunity hyperglycemia visceromegaly proportionate short stature severe short stature abnormality of connective tissue birth length less than 3rd percentile deviation of finger short palm abnormality of the abdominal wall hernia of the abdominal wall decreased circulating antibody level short stature abnormality of body weight decreased body weight abnormal anterior eye segment morphology abnormal lymphocyte morphology abnormality of temperature regulation hematological neoplasm poor appetite agammaglobulinemia abnormal nasal morphology abnormality of humoral immunity abnormality of b cell physiology chronic lymphatic leukemia chronic leukemia abnormal tracheobronchial morphology joint hyperflexibility abnormal hand morphology aplasia/hypoplasia involving bones of the hand abnormal epiphysis morphology abnormality of dental eruption abnormality of dental morphology abnormal number of teeth aplasia/hypoplasia involving bones of the upper limbs excessive wrinkled skin prematurely aged appearance hypoplasia of the iris ocular anterior segment dysgenesis corneal opacity abnormality of the vasculature of the eye abnormal line of schwalbe morphology aplasia/hypoplasia of the iris aplasia/hypoplasia affecting the uvea aplasia/hypoplasia affecting the eye aplasia/hypoplasia affecting the anterior segment of the eye aplasia/hypoplasia of the skin abnormally lax or hyperextensible skin neoplasm of the skin sparse hair external ear malformation aplasia/hypoplasia involving the skeleton aplasia/hypoplasia involving bones of the skull aplasia/hypoplasia of the mandible abnormal axial skeleton morphology aplasia/hypoplasia affecting bones of the axial skeleton abnormal adipose tissue morphology lipodystrophy radial deviation of finger deviation of the hand or of fingers of the hand radial deviation of the hand or of fingers of the hand tooth agenesis aplasia/hypoplasia of the extremities aplasia/hypoplasia involving the nose enlarged epiphyses abnormal elasticity of skin abnormal zygomatic bone morphology abnormal immunoglobulin level dimple chin abdominal wall defect abnormal external nose morphology abnormal myeloid leukocyte morphology abnormality of immune system physiology abnormal cellular immune system morphology abnormal glucose homeostasis abnormal blood glucose concentration abnormal cellular physiology abnormality of the gastrointestinal tract abnormality of fluid regulation abnormality of dental structure abnormality of skin morphology abnormality of skin physiology inflammatory abnormality of the skin abnormality of skin adnexa morphology abnormal shape of the frontal region prominent forehead abnormal digit morphology abnormal long bone morphology abnormality of mouth shape generalized abnormality of skin localized skin lesion abnormal hair quantity functional abnormality of the inner ear abnormality of higher mental function unusual cns infection abdominal symptom abnormality of joint mobility neoplasm by anatomical site midface retrusion abnormal facial skeleton morphology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology abnormal leukocyte count short digit respiratory tract infection abnormal neutrophil count hepatitis b-cell lymphoma abnormal respiratory system morphology abnormal homeostasis abnormal eye morphology abnormal eye physiology fatigue non-hodgkin lymphoma abnormal nervous system physiology abnormal nervous system morphology abnormal inflammatory response increased inflammatory response morphological abnormality of the gastrointestinal tract cough papilloma neurodevelopmental delay neurodevelopmental abnormality abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology constitutional symptom red eye abnormal cellular phenotype abnormal spleen morphology abnormal bronchus morphology clinodactyly abnormal ocular adnexa morphology abnormal jaw morphology abnormal lymphocyte physiology abnormal ear morphology abnormal ear physiology abnormal oral morphology abnormality of the ocular adnexa unusual infection unusual infection by anatomical site abnormal immune system morphology abnormal granulocyte count abnormality of the musculoskeletal system abnormal leukocyte physiology abnormal joint physiology abnormality of limbs abnormality of limb bone abnormal lymphocyte count aplasia/hypoplasia involving bones of the extremities inflammatory abnormality of the eye abnormality of the supraorbital ridges lipoatrophy cellulitis premature skin wrinkling abnormality of the lymphatic system hernia sepsis abnormal palm morphology abnormality of globe location verrucae abnormal liver morphology abnormal frontal bone morphology abnormal odontoid tissue morphology acetylation alternative splicing dwarfism stress response phosphoprotein protein transport repeat sh2 domain sh3 domain transport ubl conjugation host-virus interaction phosphatidylinositol 3-kinase regulatory subunit p85 inter-sh2 domain rho gtpase-activating protein domain sh2 domain sh3 domain rho gtpase activation protein pi3k regulatory subunit p85-related , inter-sh2 domain pi3k p85 subunit, c-terminal sh2 domain pi3k p85 subunit, n-terminal sh2 domain phosphatidylinositol 3-kinase regulatory subunit alpha, sh3 domain sh3-like domain superfamily sh2 domain superfamily pik3r1, inter-sh2 domain src homology 2 domains gtpase-activator protein for rho-like gtpases src homology 3 domains cellular glucose homeostasis cell activation immune system process immune system development leukocyte differentiation regulation of transcription, dna-templated regulation of transcription by rna polymerase ii lipid metabolic process phospholipid metabolic process glycerophospholipid metabolic process phosphatidylinositol biosynthetic process phosphorus metabolic process phosphate-containing compound metabolic process transport response to stress immune response cell communication signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway multicellular organism development regulation of actin polymerization or depolymerization protein localization metabolic process insulin receptor signaling pathway lipid biosynthetic process phospholipid biosynthetic process biosynthetic process response to endogenous stimulus response to hormone regulation of biosynthetic process positive regulation of biosynthetic process positive regulation of metabolic process regulation of catabolic process regulation of signal transduction negative regulation of signal transduction cellular process response to organic substance response to organonitrogen compound regulation of gene expression regulation of autophagy regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process positive regulation of macromolecule metabolic process regulation of cell communication negative regulation of cell communication phosphatidylinositol 3-kinase signaling protein transport cellular component organization regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process organophosphate metabolic process cellular homeostasis regulation of signaling signaling negative regulation of signaling hemopoiesis lymphocyte differentiation cell differentiation regulation of cell adhesion b cell differentiation t cell differentiation regulation of actin filament length regulation of actin filament polymerization regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process regulation of cellular catabolic process regulation of actin filament bundle assembly regulation of protein polymerization regulation of intracellular transport positive regulation of intracellular transport multicellular organismal process developmental process regulation of cellular component size response to insulin cellular response to insulin stimulus cellular response to hormone stimulus regulation of localization regulation of protein localization regulation of actin cytoskeleton organization regulation of actin filament-based process macromolecule localization regulation of organelle organization regulation of intracellular protein transport carbohydrate homeostasis cellular response to stress response to endoplasmic reticulum stress intracellular signal transduction t cell activation b cell activation response to chemical regulation of protein import into nucleus positive regulation of protein import into nucleus regulation of phosphorylation homeostatic process glucose homeostasis regulation of protein-containing complex assembly regulation of mapk cascade negative regulation of mapk cascade response to peptide hormone regulation of kinase activity regulation of lipid kinase activity regulation of phosphatidylinositol 3-kinase activity regulation of cellular component biogenesis cellular metabolic process primary metabolic process cellular biosynthetic process cellular lipid metabolic process glycerolipid biosynthetic process establishment of protein localization leukocyte activation positive regulation of cell adhesion positive regulation of transcription, dna-templated positive regulation of nucleobase-containing compound metabolic process positive regulation of transcription by rna polymerase ii glycerophospholipid biosynthetic process glycerolipid metabolic process phosphatidylinositol metabolic process lymphocyte activation regulation of nucleocytoplasmic transport positive regulation of nucleocytoplasmic transport phosphatidylinositol phosphate biosynthetic process phosphatidylinositol-mediated signaling inositol lipid-mediated signaling animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process hematopoietic or lymphoid organ development regulation of response to stimulus negative regulation of response to stimulus system development anatomical structure development cellular developmental process chemical homeostasis regulation of biological process regulation of catalytic activity regulation of cellular process response to stimulus regulation of transport positive regulation of transport regulation of cellular component organization regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process localization positive regulation of protein transport regulation of protein transport establishment of localization regulation of rna metabolic process positive regulation of rna metabolic process regulation of transferase activity regulation of stress fiber assembly regulation of cytoskeleton organization cellular localization cellular response to stimulus cellular chemical homeostasis regulation of macromolecule metabolic process regulation of cellular localization biological regulation regulation of biological quality regulation of molecular function regulation of establishment of protein localization cellular macromolecule localization cellular response to chemical stimulus cellular response to organic substance cellular response to peptide hormone stimulus cellular response to organonitrogen compound cellular response to endogenous stimulus organic substance transport organic substance metabolic process nitrogen compound transport cellular component organization or biogenesis regulation of primary metabolic process regulation of anatomical structure size positive regulation of intracellular protein transport organophosphate biosynthetic process regulation of actomyosin structure organization regulation of actin filament organization regulation of protein localization to nucleus positive regulation of protein localization to nucleus organic substance biosynthetic process response to peptide cellular response to peptide response to nitrogen compound cellular response to nitrogen compound response to oxygen-containing compound cellular response to oxygen-containing compound regulation of intracellular signal transduction negative regulation of intracellular signal transduction positive regulation of rna biosynthetic process regulation of supramolecular fiber organization regulation of protein localization to plasma membrane mononuclear cell differentiation regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription positive regulation of protein localization regulation of protein localization to cell periphery positive regulation of establishment of protein localization regulation of protein localization to membrane regulation of rna biosynthetic process phosphotyrosine residue binding signaling receptor binding binding protein binding kinase regulator activity enzyme binding kinase binding protein kinase binding phosphatase binding protein phosphatase binding enzyme regulator activity receptor tyrosine kinase binding phosphatidylinositol 3-kinase regulator activity phosphatidylinositol 3-kinase regulatory subunit binding phosphatidylinositol 3-kinase binding protein phosphorylated amino acid binding 1-phosphatidylinositol-3-kinase regulator activity protein heterodimerization activity protein dimerization activity phosphoprotein binding molecular function regulator activity protein tyrosine kinase binding intracellular anatomical structure nucleus cytoplasm cytosol focal adhesion phosphatidylinositol 3-kinase complex phosphatidylinositol 3-kinase complex, class ia membrane extrinsic component of membrane cell junction cell-substrate junction protein-containing complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle transferase complex, transferring phosphorus-containing groups anchoring junction phosphatidylinositol 3-kinase complex, class i membrane protein complex cellular anatomical entity catalytic complex transferase complex mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and tyrosine-protein kinase, catalytic domain mixed, incl. constitutive signaling by aberrant pi3k in cancer, and fceri mediated ca+2 mobilization gpvi-mediated activation cascade, and sh2 domain superfamily mixed, incl. gpvi-mediated activation cascade, and insulin receptor binding mixed, incl. signaling by erythropoietin, and insulin receptor complex phosphatidylinositol 3-kinase complex, class i, and insulin receptor complex phosphatidylinositol 3-kinase complex, class i, and insulin receptor substrate pi3k/akt activation egfr tyrosine kinase inhibitor resistance endocrine resistance platinum drug resistance erbb signaling pathway ras signaling pathway rap1 signaling pathway camp signaling pathway chemokine signaling pathway hif-1 signaling pathway foxo signaling pathway phosphatidylinositol signaling system sphingolipid signaling pathway phospholipase d signaling pathway autophagy - animal mtor signaling pathway pi3k-akt signaling pathway ampk signaling pathway apoptosis longevity regulating pathway longevity regulating pathway - multiple species cellular senescence axon guidance vegf signaling pathway osteoclast differentiation focal adhesion signaling pathways regulating pluripotency of stem cells platelet activation toll-like receptor signaling pathway c-type lectin receptor signaling pathway jak-stat signaling pathway natural killer cell mediated cytotoxicity t cell receptor signaling pathway b cell receptor signaling pathway fc epsilon ri signaling pathway fc gamma r-mediated phagocytosis tnf signaling pathway leukocyte transendothelial migration neurotrophin signaling pathway cholinergic synapse inflammatory mediator regulation of trp channels regulation of actin cytoskeleton insulin signaling pathway progesterone-mediated oocyte maturation estrogen signaling pathway prolactin signaling pathway thyroid hormone signaling pathway regulation of lipolysis in adipocytes relaxin signaling pathway gnrh secretion type ii diabetes mellitus insulin resistance non-alcoholic fatty liver disease age-rage signaling pathway in diabetic complications growth hormone synthesis, secretion and action aldosterone-regulated sodium reabsorption carbohydrate digestion and absorption alzheimer disease spinocerebellar ataxia prion disease bacterial invasion of epithelial cells shigellosis yersinia infection chagas disease amoebiasis hepatitis c hepatitis b measles human cytomegalovirus infection influenza a human papillomavirus infection human t-cell leukemia virus 1 infection kaposi sarcoma-associated herpesvirus infection herpes simplex virus 1 infection epstein-barr virus infection human immunodeficiency virus 1 infection pathways in cancer viral carcinogenesis proteoglycans in cancer micrornas in cancer colorectal cancer renal cell carcinoma pancreatic cancer endometrial cancer glioma prostate cancer melanoma chronic myeloid leukemia acute myeloid leukemia small cell lung cancer non-small cell lung cancer breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer choline metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer fluid shear stress and atherosclerosis hemostasis pi3k cascade irs-mediated signalling gpvi-mediated activation cascade pip3 activates akt signaling interleukin-7 signaling developmental biology cytokine signaling in immune system adaptive immune system metabolism signaling by scf-kit pi metabolism phospholipid metabolism cell-cell communication signal transduction disease synthesis of pips at the plasma membrane signaling by ntrks innate immune system immune system downstream signal transduction signaling by pdgf signaling by ntrk1 (trka) signaling by vegf signaling by rho gtpases pi3k/akt activation negative regulation of the pi3k/akt network signaling by alk tcr signaling downstream tcr signaling cell surface interactions at the vascular wall fcgamma receptor (fcgr) dependent phagocytosis role of phospholipids in phagocytosis tie2 signaling dap12 interactions pi3k/akt signaling in cancer constitutive signaling by aberrant pi3k in cancer signaling by type 1 insulin-like growth factor 1 receptor (igf1r) dap12 signaling igf1r signaling cascade irs-related events triggered by igf1r fc epsilon receptor (fceri) signaling role of lat2/ntal/lab on calcium mobilization signaling by gpcr nephrin family interactions gpcr downstream signalling costimulation by the cd28 family cd28 co-stimulation cd28 dependent pi3k/akt signaling g alpha (q) signalling events axon guidance vegfa-vegfr2 pathway signaling by interleukins interleukin-2 family signaling interleukin-3, interleukin-5 and gm-csf signaling metabolism of lipids diseases of signal transduction by growth factor receptors and second messengers raf/map kinase cascade mapk family signaling cascades mapk1/mapk3 signaling pi5p, pp2a and ier3 regulate pi3k/akt signaling insulin receptor signalling cascade signaling by insulin receptor platelet activation, signaling and aggregation ret signaling esr-mediated signaling rhoa gtpase cycle intracellular signaling by second messengers signaling by nuclear receptors signaling by receptor tyrosine kinases extra-nuclear estrogen signaling rho gtpase cycle rhob gtpase cycle cdc42 gtpase cycle rac1 gtpase cycle rac2 gtpase cycle rhod gtpase cycle rhoj gtpase cycle rhou gtpase cycle rac3 gtpase cycle rhof gtpase cycle interleukin receptor shc signaling regulation of signaling by cbl signaling by kit in disease signaling by phosphorylated juxtamembrane, extracellular and kinase domain kit mutants signaling by pdgfr in disease signaling by pdgfra transmembrane, juxtamembrane and kinase domain mutants signaling by pdgfra extracellular domain mutants nervous system development rnd3 gtpase cycle rnd2 gtpase cycle rnd1 gtpase cycle signaling by rho gtpases, miro gtpases and rhobtb3 il-5 signaling pathway androgen receptor signaling pathway amp-activated protein kinase signaling micrornas in cardiomyocyte hypertrophy integrin-mediated cell adhesion il-1 signaling pathway rankl/rank signaling pathway thyroid stimulating hormone (tsh) signaling pathway leptin signaling pathway prolactin signaling pathway il-7 signaling pathway alzheimers disease and mirna effects il-9 signaling pathway glioblastoma signaling pathways b cell receptor signaling pathway interleukin-11 signaling pathway brain-derived neurotrophic factor (bdnf) signaling pathway alpha 6 beta 4 signaling pathway bladder cancer il-3 signaling pathway kit receptor signaling pathway focal adhesion il6 signaling pathway tgf-beta signaling pathway pi3k-akt-mtor signaling pathway and therapeutic opportunities vegfa-vegfr2 signaling angiopoietin-like protein 8 regulatory pathway chemokine signaling pathway embryonic stem cell pluripotency pathways focal adhesion: pi3k-akt-mtor-signaling pathway microglia pathogen phagocytosis pathway il-4 signaling pathway endometrial cancer pi3k-akt signaling pathway met in type 1 papillary renal cell carcinoma ebola virus infection in host ras signaling epithelial to mesenchymal transition in colorectal cancer non-small cell lung cancer breast cancer pathway pancreatic adenocarcinoma pathway egf/egfr signaling pathway nonalcoholic fatty liver disease synaptic signaling pathways associated with autism spectrum disorder translation inhibitors in chronically activated pdgfra cells cancer immunotherapy by ctla4 blockade measles virus infection small cell lung cancer gastrin signaling pathway hepatitis b infection head and neck squamous cell carcinoma melanoma osteoblast differentiation and related diseases egfr tyrosine kinase inhibitor resistance insulin signaling mbdnf and probdnf regulation of gaba neurotransmission modulators of tcr signaling and t cell activation regulation of actin cytoskeleton alzheimers disease g13 signaling pathway interferon type i signaling pathways notch signaling pathway erbb signaling pathway t-cell receptor signaling pathway dna damage response (only atm dependent) toll-like receptor signaling pathway tissues, cell types and enzyme sources animal reproductive system female reproductive system brain embryonic structure central nervous system head organism form blood cancer cell lymphocytic leukemia cell leukemia cell nervous system whole body chronic lymphocytic leukemia cell urogenital system internal female genital organ intracellular cytoplasm cytosol phosphatidylinositol 3-kinase complex phosphatidylinositol 3-kinase complex, class ia membrane extrinsic component of membrane protein-containing complex transferase complex, transferring phosphorus-containing groups phosphatidylinositol 3-kinase complex, class i membrane protein complex cellular anatomical entity catalytic complex transferase complex cognition mental process intelligence health study participation abnormality of the kidney abnormality of the urinary system phenotypic abnormality abnormality of the genitourinary system abnormality of head or neck abnormality of the mouth narrow mouth abnormal oral cavity morphology abnormality of the head hydrocephalus abnormality of skull size macrocephaly abnormality of the face abnormality of the forehead abnormality of the orbital region hypertelorism high forehead abnormality of the nose abnormal nasal bridge morphology abnormality of the eye abnormal eyelid morphology abnormality of vision visual impairment telecanthus ptosis blindness long palpebral fissure abnormality of the nervous system abnormal thorax morphology abnormality of the skeletal system abnormality of the vertebral column abnormal skull morphology abnormally large globe abnormality of the hand hand polydactyly postaxial hand polydactyly abnormality of finger intellectual disability seizure hypotonia global developmental delay abnormal corpus callosum morphology pachygyria lissencephaly megalencephaly abnormal joint morphology flexion contracture abnormality of the cardiovascular system abnormal heart morphology ventricular septal defect atrial septal defect mitral regurgitation abnormal cardiac septum morphology abnormal aortic morphology abnormal cardiac ventricle morphology frontal bossing morphological central nervous system abnormality abnormal cerebral morphology hypoplasia of the corpus callosum abnormal cerebral ventricle morphology polymicrogyria intellectual disability, profound abnormality of neuronal migration abnormal cerebral white matter morphology abnormal cortical gyration abnormal cerebral cortex morphology abnormality of the vasculature scoliosis abnormal calvaria morphology kyphosis abnormality of limb bone morphology abnormality of the lower limb abnormality of the knee abnormality of the upper limb abnormal cerebrospinal fluid morphology thoracic scoliosis aplasia/hypoplasia involving the central nervous system abnormality of the musculature limb joint contracture skeletal muscle atrophy abnormality of connective tissue abnormal muscle tone abnormal 5th finger morphology duplication of hand bones abnormal nasal morphology abnormal cardiac atrium morphology depressed nasal bridge lower-limb joint contracture abnormal finger phalanx morphology abnormal hand morphology knee flexion contracture thick corpus callosum aplasia/hypoplasia of the cerebrum aplasia/hypoplasia of the corpus callosum reduced visual acuity abnormality of the palpebral fissures axial hypotonia abnormal axial skeleton morphology duplication of bones involving the upper extremities duplication of phalanx of hand abnormal ventricular septum morphology polydactyly abnormality of the curvature of the vertebral column vascular ring abnormality of the upper urinary tract abnormal cerebral subcortex morphology abnormal systemic arterial morphology abnormal cardiovascular system physiology abnormal shape of the frontal region abnormal digit morphology abnormality of mouth size abnormality of higher mental function abnormal branching pattern of the aortic arch abnormality of joint mobility abnormal muscle physiology abnormal skeletal muscle morphology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology abnormal atrial septum morphology abnormal renal morphology abnormal aortic arch morphology abnormal eye morphology abnormal eye physiology abnormality of brain morphology abnormal nervous system physiology abnormal nervous system morphology neurodevelopmental delay neurodevelopmental abnormality abnormal vascular morphology abnormality of muscle size abnormal ocular adnexa morphology abnormality of cardiovascular system morphology abnormal morphology of the great vessels abnormal mitral valve physiology abnormal atrioventricular valve physiology abnormal heart valve physiology abnormal oral morphology abnormality of the ocular adnexa abnormality of the musculoskeletal system abnormal blood vessel morphology thin corpus callosum atrioventricular valve regurgitation joint contracture abnormal joint physiology abnormality of limbs abnormality of limb bone increased head circumference postaxial polydactyly abnormal tendon morphology abnormality of lower limb joint abnormal localization of kidney cognitive impairment abnormal forebrain morphology abnormal thoracic spine morphology abnormality of globe location abnormality of globe size abnormal size of the palpebral fissures abnormal frontal bone morphology stress response phosphoprotein protein transport repeat sh2 domain sh3 domain transport ubl conjugation phosphatidylinositol 3-kinase regulatory subunit p85 inter-sh2 domain rho gtpase-activating protein domain sh2 domain sh3 domain rho gtpase activation protein pi3k regulatory subunit p85-related , inter-sh2 domain pi3k p85 subunit, c-terminal sh2 domain pi3k p85 subunit, n-terminal sh2 domain phosphatidylinositol 3-kinase regulatory subunit beta, sh3 domain sh3-like domain superfamily sh2 domain superfamily src homology 2 domains gtpase-activator protein for rho-like gtpases src homology 3 domains angiogenesis blood vessel development ameboidal-type cell migration cell activation regulation of protein phosphorylation positive regulation of protein phosphorylation vasculature development sprouting angiogenesis cell migration involved in sprouting angiogenesis immune system process immune system development leukocyte differentiation lipid metabolic process phospholipid metabolic process glycerophospholipid metabolic process phosphatidylinositol biosynthetic process phosphorus metabolic process phosphate-containing compound metabolic process immune response cell communication signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway multicellular organism development metabolic process insulin receptor signaling pathway lipid biosynthetic process phospholipid biosynthetic process biosynthetic process anatomical structure morphogenesis response to endogenous stimulus response to hormone positive regulation of metabolic process cellular process response to organic substance response to organonitrogen compound regulation of gene expression positive regulation of phosphorus metabolic process positive regulation of macromolecule metabolic process positive regulation of gene expression epithelial cell migration regulation of cell death cell migration regulation of phosphate metabolic process regulation of metabolic process organophosphate metabolic process signaling hemopoiesis lymphocyte differentiation cell differentiation b cell differentiation t cell differentiation regulation of cell migration positive regulation of cell migration regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of protein modification process positive regulation of protein modification process multicellular organismal process developmental process response to insulin cellular response to insulin stimulus cellular response to hormone stimulus tube morphogenesis tube development intracellular signal transduction phosphatidylinositol-3-phosphate biosynthetic process regulation of locomotion positive regulation of locomotion t cell activation b cell activation response to chemical regulation of phosphorylation positive regulation of phosphorylation regulation of apoptotic process negative regulation of apoptotic process regulation of programmed cell death negative regulation of programmed cell death response to peptide hormone protein kinase b signaling blood vessel endothelial cell migration endothelial cell migration regulation of kinase activity regulation of lipid kinase activity regulation of phosphatidylinositol 3-kinase activity cellular metabolic process primary metabolic process cellular biosynthetic process cellular lipid metabolic process glycerolipid biosynthetic process leukocyte activation positive regulation of phosphate metabolic process glycerophospholipid biosynthetic process glycerolipid metabolic process phosphatidylinositol metabolic process lymphocyte activation phosphatidylinositol phosphate biosynthetic process animal organ development blood vessel morphogenesis positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process hematopoietic or lymphoid organ development anatomical structure formation involved in morphogenesis system development anatomical structure development cellular developmental process cell motility regulation of biological process regulation of catalytic activity regulation of cellular process response to stimulus regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process regulation of protein metabolic process positive regulation of protein metabolic process regulation of transferase activity cellular response to stimulus regulation of macromolecule metabolic process negative regulation of cell death biological regulation regulation of molecular function cellular response to chemical stimulus cellular response to organic substance cellular response to peptide hormone stimulus cellular response to organonitrogen compound cellular response to endogenous stimulus organic substance metabolic process circulatory system development regulation of primary metabolic process tissue migration epithelium migration organophosphate biosynthetic process organic substance biosynthetic process response to peptide cellular response to peptide response to nitrogen compound cellular response to nitrogen compound response to oxygen-containing compound cellular response to oxygen-containing compound mononuclear cell differentiation regulation of cell motility positive regulation of cell motility regulation of anoikis negative regulation of anoikis phosphotyrosine residue binding catalytic activity binding protein binding kinase activity 1-phosphatidylinositol-3-kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor kinase regulator activity enzyme regulator activity phosphatidylinositol 3-kinase activity phosphatidylinositol 3-kinase regulator activity protein phosphorylated amino acid binding 1-phosphatidylinositol-3-kinase regulator activity phosphoprotein binding phosphatidylinositol kinase activity molecular function regulator activity intracellular anatomical structure cytoplasm cytosol phosphatidylinositol 3-kinase complex phosphatidylinositol 3-kinase complex, class ia membrane extrinsic component of membrane protein-containing complex transferase complex, transferring phosphorus-containing groups phosphatidylinositol 3-kinase complex, class i membrane protein complex cellular anatomical entity catalytic complex transferase complex mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and tyrosine-protein kinase, catalytic domain mixed, incl. constitutive signaling by aberrant pi3k in cancer, and fceri mediated ca+2 mobilization gpvi-mediated activation cascade, and sh2 domain superfamily mixed, incl. gpvi-mediated activation cascade, and insulin receptor binding mixed, incl. signaling by erythropoietin, and insulin receptor complex phosphatidylinositol 3-kinase complex, class i, and insulin receptor complex phosphatidylinositol 3-kinase complex, class i, and insulin receptor substrate pi3k/akt activation egfr tyrosine kinase inhibitor resistance endocrine resistance platinum drug resistance erbb signaling pathway ras signaling pathway rap1 signaling pathway camp signaling pathway chemokine signaling pathway hif-1 signaling pathway foxo signaling pathway phosphatidylinositol signaling system sphingolipid signaling pathway phospholipase d signaling pathway autophagy - animal mtor signaling pathway pi3k-akt signaling pathway ampk signaling pathway apoptosis longevity regulating pathway longevity regulating pathway - multiple species cellular senescence axon guidance vegf signaling pathway osteoclast differentiation focal adhesion signaling pathways regulating pluripotency of stem cells platelet activation toll-like receptor signaling pathway c-type lectin receptor signaling pathway jak-stat signaling pathway natural killer cell mediated cytotoxicity t cell receptor signaling pathway b cell receptor signaling pathway fc epsilon ri signaling pathway fc gamma r-mediated phagocytosis tnf signaling pathway leukocyte transendothelial migration neurotrophin signaling pathway cholinergic synapse inflammatory mediator regulation of trp channels regulation of actin cytoskeleton insulin signaling pathway progesterone-mediated oocyte maturation estrogen signaling pathway prolactin signaling pathway thyroid hormone signaling pathway regulation of lipolysis in adipocytes relaxin signaling pathway gnrh secretion type ii diabetes mellitus insulin resistance non-alcoholic fatty liver disease age-rage signaling pathway in diabetic complications growth hormone synthesis, secretion and action aldosterone-regulated sodium reabsorption carbohydrate digestion and absorption alzheimer disease spinocerebellar ataxia prion disease bacterial invasion of epithelial cells shigellosis yersinia infection chagas disease amoebiasis hepatitis c hepatitis b measles human cytomegalovirus infection influenza a human papillomavirus infection human t-cell leukemia virus 1 infection kaposi sarcoma-associated herpesvirus infection herpes simplex virus 1 infection epstein-barr virus infection human immunodeficiency virus 1 infection pathways in cancer viral carcinogenesis proteoglycans in cancer micrornas in cancer colorectal cancer renal cell carcinoma pancreatic cancer endometrial cancer glioma prostate cancer melanoma chronic myeloid leukemia acute myeloid leukemia small cell lung cancer non-small cell lung cancer breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer choline metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer fluid shear stress and atherosclerosis hemostasis gpvi-mediated activation cascade pip3 activates akt signaling interleukin-7 signaling developmental biology cytokine signaling in immune system adaptive immune system metabolism signaling by scf-kit pi metabolism phospholipid metabolism signal transduction disease synthesis of pips at the plasma membrane immune system signaling by rho gtpases negative regulation of the pi3k/akt network pi3k/akt signaling in cancer constitutive signaling by aberrant pi3k in cancer signaling by gpcr gpcr downstream signalling costimulation by the cd28 family cd28 co-stimulation cd28 dependent pi3k/akt signaling g alpha (q) signalling events axon guidance signaling by interleukins interleukin-2 family signaling interleukin-3, interleukin-5 and gm-csf signaling metabolism of lipids diseases of signal transduction by growth factor receptors and second messengers pi5p, pp2a and ier3 regulate pi3k/akt signaling platelet activation, signaling and aggregation ret signaling esr-mediated signaling intracellular signaling by second messengers signaling by nuclear receptors signaling by receptor tyrosine kinases extra-nuclear estrogen signaling rho gtpase cycle rac1 gtpase cycle rac2 gtpase cycle interleukin receptor shc signaling regulation of signaling by cbl signaling by kit in disease signaling by phosphorylated juxtamembrane, extracellular and kinase domain kit mutants nervous system development signaling by rho gtpases, miro gtpases and rhobtb3 amp-activated protein kinase signaling micrornas in cardiomyocyte hypertrophy alzheimers disease and mirna effects focal adhesion pi3k-akt-mtor signaling pathway and therapeutic opportunities angiopoietin-like protein 8 regulatory pathway chemokine signaling pathway leptin-insulin signaling overlap microglia pathogen phagocytosis pathway endometrial cancer pi3k-akt signaling pathway met in type 1 papillary renal cell carcinoma ebola virus infection in host ras signaling epithelial to mesenchymal transition in colorectal cancer non-small cell lung cancer breast cancer pathway pancreatic adenocarcinoma pathway nonalcoholic fatty liver disease synaptic signaling pathways associated with autism spectrum disorder neural crest cell migration during development neural crest cell migration in cancer translation inhibitors in chronically activated pdgfra cells cancer immunotherapy by ctla4 blockade measles virus infection small cell lung cancer gastrin signaling pathway hepatitis b infection melanoma osteoblast differentiation and related diseases egfr tyrosine kinase inhibitor resistance insulin signaling mbdnf and probdnf regulation of gaba neurotransmission 3q29 copy number variation syndrome regulation of actin cytoskeleton alzheimers disease erbb signaling pathway dna damage response (only atm dependent) toll-like receptor signaling pathway tissues, cell types and enzyme sources animal brain central nervous system head nervous system whole body intracellular cytoplasm cytosol phosphatidylinositol 3-kinase complex phosphatidylinositol 3-kinase complex, class ia membrane extrinsic component of membrane protein-containing complex transferase complex, transferring phosphorus-containing groups phosphatidylinositol 3-kinase complex, class i membrane protein complex cellular anatomical entity catalytic complex transferase complex vital signs erythrocyte indices leukocyte count blood pressure neuroimaging measurement brain measurement hematological measurement hemoglobin measurement mean corpuscular hemoglobin mean corpuscular hemoglobin concentration serum gamma-glutamyl transferase measurement liver enzyme measurement complete blood cell count lymphocyte count metabolite measurement renal system measurement protein measurement neutrophil count eosinophil count erythrocyte measurement nervous system measurement glomerular filtration rate serum metabolite measurement diastolic blood pressure infectious disease biomarker brain volume measurement granulocyte count myeloid white cell count neutrophil percentage of leukocytes lymphocyte percentage of leukocytes alternative splicing phosphoprotein repeat sh2 domain phosphatidylinositol 3-kinase regulatory subunit p85 inter-sh2 domain sh2 domain pi3k regulatory subunit p85-related , inter-sh2 domain pi3k p85 subunit, c-terminal sh2 domain pi3k p85 subunit, n-terminal sh2 domain sh2 domain superfamily src homology 2 domains carbohydrate metabolic process monosaccharide metabolic process glucose metabolic process glucose catabolic process organic acid metabolic process pyruvate metabolic process generation of precursor metabolites and energy glycolytic process nucleobase-containing compound metabolic process purine nucleotide metabolic process nucleoside diphosphate phosphorylation regulation of transcription, dna-templated regulation of transcription by rna polymerase ii regulation of translation protein phosphorylation cellular aromatic compound metabolic process nadh metabolic process nadh regeneration nucleoside phosphate metabolic process atp generation from adp phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process metabolic process cell death catabolic process nucleotide metabolic process nucleoside diphosphate metabolic process purine nucleoside diphosphate metabolic process nucleoside triphosphate metabolic process purine nucleoside triphosphate metabolic process purine ribonucleotide metabolic process purine ribonucleoside diphosphate metabolic process ribonucleoside diphosphate metabolic process ribonucleoside triphosphate metabolic process purine ribonucleoside triphosphate metabolic process ribonucleotide metabolic process response to endogenous stimulus response to hormone regulation of biosynthetic process positive regulation of biosynthetic process positive regulation of metabolic process cellular process response to organic substance response to organonitrogen compound regulation of gene expression regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process positive regulation of macromolecule metabolic process post-transcriptional regulation of gene expression positive regulation of gene expression programmed cell death carbohydrate catabolic process phosphorylation histone modification histone phosphorylation peptidyl-threonine phosphorylation peptidyl-tyrosine phosphorylation peptidyl-amino acid modification peptidyl-threonine modification peptidyl-tyrosine modification regulation of nucleobase-containing compound metabolic process regulation of metabolic process hexose metabolic process hexose catabolic process protein metabolic process organophosphate metabolic process nad metabolic process ribose phosphate metabolic process carboxylic acid metabolic process regulation of anatomical structure morphogenesis regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process monocarboxylic acid metabolic process response to insulin cellular response to insulin stimulus cellular response to hormone stimulus regulation of cellular amide metabolic process positive regulation of cellular amide metabolic process cellular nitrogen compound metabolic process histone-threonine phosphorylation histone h3-t11 phosphorylation protein modification process response to chemical macromolecule metabolic process macromolecule modification response to peptide hormone oxoacid metabolic process cellular metabolic process primary metabolic process small molecule metabolic process small molecule catabolic process positive regulation of translation regulation of angiogenesis positive regulation of angiogenesis positive regulation of transcription, dna-templated positive regulation of nucleobase-containing compound metabolic process positive regulation of transcription by rna polymerase ii adp metabolic process atp metabolic process monosaccharide catabolic process heterocycle metabolic process nucleotide phosphorylation positive regulation of biological process positive regulation of cellular process regulation of biological process regulation of developmental process regulation of cellular process response to stimulus positive regulation of developmental process regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of multicellular organismal process positive regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process regulation of rna metabolic process positive regulation of rna metabolic process cellular response to stimulus nucleobase-containing small molecule metabolic process regulation of macromolecule metabolic process glycolytic process through fructose-6-phosphate glycolytic process through glucose-6-phosphate canonical glycolysis glucose catabolic process to pyruvate biological regulation cellular response to chemical stimulus cellular response to organic substance cellular response to peptide hormone stimulus cellular response to organonitrogen compound cellular response to endogenous stimulus organic substance metabolic process purine-containing compound metabolic process regulation of primary metabolic process carbohydrate derivative metabolic process regulation of vasculature development organic cyclic compound metabolic process organonitrogen compound metabolic process organic substance catabolic process response to peptide cellular response to peptide response to nitrogen compound cellular response to nitrogen compound response to oxygen-containing compound cellular response to oxygen-containing compound positive regulation of rna biosynthetic process regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription regulation of sprouting angiogenesis positive regulation of sprouting angiogenesis positive regulation of vasculature development regulation of multicellular organismal development regulation of cellular macromolecule biosynthetic process regulation of cytoplasmic translation positive regulation of cytoplasmic translation regulation of rna biosynthetic process nucleotide binding magnesium ion binding nucleic acid binding transcription coregulator activity transcription coactivator activity rna binding mrna binding catalytic activity protein kinase activity protein serine/threonine kinase activity protein tyrosine kinase activity pyruvate kinase activity binding protein binding atp binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding mhc protein complex binding mhc class ii protein complex binding adenyl nucleotide binding potassium ion binding alkali metal ion binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding histone kinase activity histone threonine kinase activity histone kinase activity (h3-t11 specific) purine ribonucleoside triphosphate binding small molecule binding identical protein binding protein homodimerization activity ion binding anion binding cation binding protein-containing complex binding cadherin binding metal ion binding protein dimerization activity cell adhesion molecule binding organic cyclic compound binding carbohydrate derivative binding catalytic activity, acting on a protein transcription regulator activity nucleoside phosphate binding heterocyclic compound binding extracellular region extracellular space intracellular anatomical structure nucleus cytoplasm mitochondrion endoplasmic reticulum rough endoplasmic reticulum cytosol cilium endomembrane system secretory granule external encapsulating structure extracellular matrix cytoplasmic vesicle membrane-enclosed lumen vesicle vesicle lumen secretory granule lumen cell projection organelle membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle organelle lumen cytoplasmic vesicle lumen collagen-containing extracellular matrix extracellular membrane-bounded organelle intracellular organelle lumen extracellular exosome cell periphery intracellular vesicle secretory vesicle ficolin-1-rich granule cellular anatomical entity plasma membrane bounded cell projection extracellular vesicle ficolin-1-rich granule lumen carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism citrate cycle (tca cycle), and pyruvate metabolism citrate cycle (tca cycle), and lactate dehydrogenase activity pyruvate metabolism, and aspartate biosynthetic process lactate dehydrogenase activity, and malic oxidoreductase l-lactate dehydrogenase, and pyruvate kinase glycolysis / gluconeogenesis purine metabolism pyruvate metabolism metabolic pathways carbon metabolism biosynthesis of amino acids glucagon signaling pathway type ii diabetes mellitus human papillomavirus infection viral carcinogenesis central carbon metabolism in cancer metabolism innate immune system immune system neutrophil degranulation glycolysis glucose metabolism metabolism of carbohydrates photodynamic therapy-induced hif-1 survival signaling amino acid metabolism clear cell renal cell carcinoma pathways metabolic reprogramming in colon cancer aerobic glycolysis glycolysis in senescence glucose metabolism in triple-negative breast cancer cells metabolic reprogramming in pancreatic cancer glycolysis and gluconeogenesis tissues, cell types and enzyme sources abdomen animal alimentary canal male reproductive gland reproductive system male reproductive system female reproductive system cardiovascular system blood ascites astrocyte blood plasma blood platelet bone brain embryonic structure cervical carcinoma cell sense organ respiratory system central nervous system female reproductive gland head organism form digestive gland bone cancer cell neck connective tissue excretory gland eye fetus gastrointestinal tract gland glia gonad lung cancer cell heart hematopoietic system hematopoietic cell blood cancer cell bone marrow cancer cell colonic cancer cell integument intestine kidney lymphocytic leukemia cell leukocyte lymphoid tissue liver lung macroglia lymphoblast lymphocyte lymphoma cell throat lymph heart ventricle muscle atrium ovary pancreas placenta vascular system lymphoid cell prostate gland retina sarcoma cell urinary tract skin leukemia cell spinal cord spleen stomach testis thorax thymus thyroid gland uterine cervix uterus nervous system muscular system skeletal system endocrine gland whole body viscus trunk gastrointestinal cancer cell chronic lymphocytic leukemia cell left ventricle b-cell lymphoma cell left atrium right atrium skeletal muscle cancer cell rhabdomyosarcoma cell glial cell astroglial cell urogenital system urinary system internal male genital organ internal female genital organ astroglia interstitial cell of cajal interstitial cell immune system extracellular region extracellular space intracellular nucleus cytoplasm mitochondrion endoplasmic reticulum rough endoplasmic reticulum cytosol pyrophosphate-dependent phosphofructokinase complex endomembrane system secretory granule external encapsulating structure extracellular matrix cytoplasmic vesicle membrane-enclosed lumen vesicle protein-containing complex organelle membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle organelle lumen transferase complex, transferring phosphorus-containing groups collagen-containing extracellular matrix extracellular membrane-bounded organelle intracellular organelle lumen extracellular exosome cell periphery intracellular vesicle secretory vesicle ficolin-1-rich granule cellular anatomical entity catalytic complex protein kinase complex pyruvate kinase complex extracellular vesicle ficolin-1-rich granule lumen transferase complex pkm2 protein kinase complex pkm2 pyruvate kinase complex liver enzyme measurement metabolite measurement aspartate aminotransferase measurement protein measurement sleep measurement urinary metabolite measurement 3-hydroxypropylmercapturic acid measurement chronotype measurement acetylation allosteric enzyme alternative splicing atp-binding glycolysis hydroxylation kinase magnesium metal-binding methylation nucleus nucleotide-binding phosphoprotein potassium pyruvate transferase ubl conjugation cytoplasm isopeptide bond pyruvate kinase, barrel domain pyruvate kinase, alpha/beta domain pyruvate kinase pyruvate kinase-like, insert domain superfamily pyruvate kinase, barrel pyruvate kinase, c-terminal pyruvate kinase, insert domain superfamily pyruvate/phosphoenolpyruvate kinase-like domain superfamily pyruvate kinase, active site pyruvate kinase, c-terminal domain superfamily pyruvate kinase-like domain superfamily reproduction regulation of cyclin-dependent protein serine/threonine kinase activity cell morphogenesis cell morphogenesis involved in differentiation angiogenesis blood vessel development urogenital system development response to hypoxia ameboidal-type cell migration cell activation regulation of protein phosphorylation negative regulation of protein phosphorylation vasculature development regulation of cell-matrix adhesion negative regulation of cell-matrix adhesion startle response immune system process regulation of immune system process negative regulation of immune system process regulation of leukocyte activation negative regulation of leukocyte activation regulation of b cell apoptotic process developmental process involved in reproduction system process carbohydrate metabolic process alcohol metabolic process regulation of transcription, dna-templated negative regulation of protein kinase activity protein dephosphorylation lipid metabolic process phospholipid metabolic process glycerophospholipid metabolic process phosphatidylinositol biosynthetic process phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process apoptotic process response to stress organelle organization plasma membrane organization cell communication negative regulation of cell adhesion signal transduction cell surface receptor signaling pathway cell-cell signaling chemical synaptic transmission neuron-neuron synaptic transmission ensheathment of neurons multicellular organism development regulation of mitotic cell cycle nervous system development axonogenesis synapse assembly central nervous system development brain development heart development behavior learning or memory mating behavior rhythmic behavior circadian rhythm locomotory behavior metabolic process cell death cell population proliferation positive regulation of cell population proliferation negative regulation of cell population proliferation regulation of cell size axon ensheathment lipid biosynthetic process phospholipid biosynthetic process catabolic process biosynthetic process response to external stimulus response to abiotic stimulus anatomical structure morphogenesis animal organ morphogenesis tissue development regulation of biosynthetic process negative regulation of metabolic process positive regulation of metabolic process regulation of catabolic process positive regulation of catabolic process regulation of signal transduction positive regulation of signal transduction negative regulation of signal transduction cellular process glial cell differentiation endomembrane system organization regulation of gene expression regulation of macromolecule biosynthetic process negative regulation of phosphorus metabolic process regulation of cell cycle process positive regulation of macromolecule metabolic process negative regulation of macromolecule metabolic process epithelial cell migration regulation of epithelial cell migration negative regulation of epithelial cell migration regulation of cell communication positive regulation of cell communication negative regulation of cell communication regulation of epithelial to mesenchymal transition negative regulation of epithelial to mesenchymal transition negative regulation of cell development regulation of cell-substrate adhesion negative regulation of cell-substrate adhesion regulation of cell death positive regulation of cell death negative regulation of cell cycle process regulation of neuron projection development negative regulation of neuron projection development programmed cell death oligodendrocyte development phosphatidylinositol 3-kinase signaling regulation of phosphatidylinositol 3-kinase signaling negative regulation of phosphatidylinositol 3-kinase signaling striated muscle tissue development cellular component organization wnt signaling pathway dephosphorylation dendrite development cell migration reproductive behavior regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process protein metabolic process organophosphate metabolic process polyol metabolic process telencephalon development dentate gyrus development pallium development developmental maturation limbic system development hippocampus development glial cell development central nervous system neuron differentiation central nervous system neuron development central nervous system neuron axonogenesis neurogenesis central nervous system myelination regulation of cell-cell adhesion negative regulation of cell-cell adhesion reproductive process regulation of anatomical structure morphogenesis cellular component assembly regulation of signaling signaling positive regulation of signaling negative regulation of signaling cell projection organization cell differentiation regulation of cell adhesion regulation of proteolysis neuron differentiation lipid modification regulation of cell migration negative regulation of cell migration adult behavior prostate gland development regulation of b cell proliferation negative regulation of b cell proliferation forebrain development neuron projection development regulation of cellular metabolic process negative regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process regulation of cellular catabolic process positive regulation of cellular catabolic process regulation of cell projection organization negative regulation of cell projection organization regulation of protein ubiquitination positive regulation of protein ubiquitination regulation of protein modification process negative regulation of protein modification process positive regulation of protein modification process regulation of myelination negative regulation of myelination regulation of nervous system process negative regulation of nervous system process regulation of protein stability regulation of response to external stimulus negative regulation of response to external stimulus regulation of synaptic transmission, gabaergic central nervous system myelin maintenance axon ensheathment in central nervous system multicellular organismal process developmental process multicellular organism reproduction regulation of cellular component size regulation of localization mononuclear cell proliferation regulation of mononuclear cell proliferation negative regulation of mononuclear cell proliferation cellular component morphogenesis cell part morphogenesis regulation of myeloid cell apoptotic process regulation of peptidyl-serine phosphorylation negative regulation of peptidyl-serine phosphorylation cellular response to stress multicellular organismal response to stress negative regulation of kinase activity cell junction assembly cell junction organization social behavior tube morphogenesis organ growth tube development intracellular signal transduction protein modification process response to decreased oxygen levels cellular response to decreased oxygen levels growth regulation of growth regulation of locomotion negative regulation of locomotion gliogenesis t cell proliferation b cell proliferation t cell activation b cell activation regulation of cell population proliferation regulation of t cell proliferation negative regulation of t cell proliferation response to chemical regulation of phosphorylation negative regulation of phosphorylation regulation of membrane potential myelination maternal behavior regulation of apoptotic process positive regulation of apoptotic process negative regulation of apoptotic process regulation of programmed cell death positive regulation of programmed cell death negative regulation of programmed cell death positive regulation of catalytic activity negative regulation of catalytic activity macromolecule metabolic process myelin maintenance regulation of mapk cascade negative regulation of mapk cascade positive regulation of mapk cascade macromolecule modification protein kinase b signaling endothelial cell migration regulation of kinase activity inositol phosphate metabolic process regulation of system process cellular component biogenesis regulation of cellular component biogenesis membrane biogenesis negative regulation of molecular function positive regulation of molecular function cellular metabolic process primary metabolic process cellular biosynthetic process cellular lipid metabolic process cellular carbohydrate metabolic process small molecule metabolic process small molecule catabolic process glycerolipid biosynthetic process leukocyte activation locomotor rhythm regulation of cell differentiation negative regulation of cell differentiation negative regulation of cyclin-dependent protein serine/threonine kinase activity negative regulation of cell cycle negative regulation of cell size regulation of protein kinase activity positive regulation of proteolysis negative regulation of growth negative regulation of mitotic cell cycle negative regulation of phosphate metabolic process alcohol catabolic process polyol catabolic process organophosphate catabolic process glycerophospholipid biosynthetic process glycerolipid metabolic process phosphatidylinositol metabolic process regulation of organ growth negative regulation of organ growth lymphocyte activation lymphocyte proliferation phosphorylated carbohydrate dephosphorylation phospholipid dephosphorylation inositol phosphate dephosphorylation phosphatidylinositol dephosphorylation phosphatidylinositol-mediated signaling inositol lipid-mediated signaling regulation of synaptic plasticity cell development rhythmic process circadian behavior animal organ development blood vessel morphogenesis positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process regulation of response to stimulus positive regulation of response to stimulus negative regulation of response to stimulus developmental growth reproductive structure development multicellular organismal reproductive process regulation of developmental growth negative regulation of developmental growth anatomical structure formation involved in morphogenesis regulation of smooth muscle cell proliferation negative regulation of smooth muscle cell proliferation neuron development cell morphogenesis involved in neuron differentiation regulation of axon regeneration negative regulation of axon regeneration generation of neurons oligodendrocyte differentiation system development gland development cardiac muscle tissue development neuron projection morphogenesis dendrite morphogenesis forebrain morphogenesis brain morphogenesis anatomical structure development cell projection morphogenesis cellular developmental process cell motility regulation of lymphocyte proliferation negative regulation of lymphocyte proliferation regulation of epithelial cell proliferation negative regulation of epithelial cell proliferation regulation of neurogenesis negative regulation of neurogenesis regulation of axonogenesis negative regulation of axonogenesis regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process regulation of synapse structure or activity modulation of chemical synaptic transmission negative regulation of synaptic transmission positive regulation of synaptic transmission regulation of synapse organization synapse organization protein stabilization regulation of t cell activation regulation of b cell activation regulation of cell activation negative regulation of cell activation negative regulation of t cell activation negative regulation of b cell activation nervous system process cognition response to stimulus neuromuscular process regulation of transport negative regulation of transport regulation of dna-binding transcription factor activity positive regulation of dna-binding transcription factor activity negative regulation of developmental process regulation of cellular component organization negative regulation of cellular component organization regulation of nitrogen compound metabolic process negative regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process regulation of multicellular organismal process negative regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process negative regulation of protein metabolic process regulation of lymphocyte activation negative regulation of lymphocyte activation regulation of rna metabolic process regulation of transferase activity positive regulation of transferase activity negative regulation of transferase activity regulation of ubiquitin-protein transferase activity positive regulation of ubiquitin-protein transferase activity regulation of keratinocyte migration negative regulation of keratinocyte migration response to electrical stimulus biological process involved in intraspecies interaction between organisms cellular response to stimulus regulation of cell cycle regulation of focal adhesion assembly negative regulation of focal adhesion assembly regulation of protein kinase b signaling negative regulation of protein kinase b signaling regulation of nervous system development negative regulation of nervous system development regulation of cardiac muscle tissue growth negative regulation of cardiac muscle tissue growth rhythmic synaptic transmission regulation of cardiac muscle cell proliferation negative regulation of cardiac muscle cell proliferation canonical wnt signaling pathway synapse maturation prepulse inhibition male mating behavior regulation of macromolecule metabolic process regulation of cell development long-term synaptic potentiation head development regulation of cellular localization regulation of heart growth muscle tissue development negative regulation of cell death prostate gland growth parental behavior dendritic spine development dendritic spine morphogenesis regulation of dendritic spine development negative regulation of dendritic spine development regulation of dendritic spine morphogenesis negative regulation of dendritic spine morphogenesis membrane organization regulation of wound healing negative regulation of wound healing negative regulation of heart growth reproductive system development axon development biological regulation regulation of biological quality regulation of molecular function regulation of lymphocyte apoptotic process regulation of erk1 and erk2 cascade negative regulation of erk1 and erk2 cascade positive regulation of erk1 and erk2 cascade response to oxygen levels regulation of neuron projection regeneration negative regulation of neuron projection regeneration leukocyte proliferation regulation of leukocyte proliferation negative regulation of leukocyte proliferation cellular response to chemical stimulus organelle assembly cellular response to abiotic stimulus cellular response to electrical stimulus cellular response to oxygen levels cellular response to hypoxia inositol phosphate catabolic process organic substance metabolic process membrane assembly cellular component organization or biogenesis regulation of protein serine/threonine kinase activity negative regulation of protein serine/threonine kinase activity circulatory system development regulation of primary metabolic process regulation of response to stress regulation of cellular response to stress regulation of anatomical structure size regulation of ribosome biogenesis negative regulation of ribosome biogenesis regulation of cell-substrate junction assembly tissue migration epithelium migration negative regulation of excitatory postsynaptic potential organophosphate biosynthetic process dendritic spine organization presynaptic membrane organization presynaptic membrane assembly postsynaptic density organization postsynaptic density assembly postsynaptic specialization assembly modulation of excitatory postsynaptic potential anterograde trans-synaptic signaling presynapse assembly postsynapse assembly postsynaptic specialization organization presynapse organization postsynapse organization regulation of postsynapse organization regulation of trans-synaptic signaling synaptic signaling trans-synaptic signaling cellular response to environmental stimulus neuron projection organization regulation of plasma membrane bounded cell projection organization plasma membrane bounded cell projection organization plasma membrane bounded cell projection morphogenesis regulation of cell-substrate junction organization negative regulation of cell-substrate junction organization cell-cell signaling by wnt organonitrogen compound metabolic process organic substance catabolic process organic substance biosynthetic process organic hydroxy compound metabolic process organic hydroxy compound catabolic process regulation of cell junction assembly negative regulation of cell junction assembly regulation of cell cycle phase transition negative regulation of cell cycle phase transition regulation of mitotic cell cycle phase transition negative regulation of mitotic cell cycle phase transition regulation of extrinsic apoptotic signaling pathway via death domain receptors positive regulation of extrinsic apoptotic signaling pathway via death domain receptors regulation of intracellular signal transduction negative regulation of intracellular signal transduction positive regulation of intracellular signal transduction regulation of cell cycle g1/s phase transition negative regulation of cell cycle g1/s phase transition regulation of response to wounding negative regulation of response to wounding regulation of leukocyte cell-cell adhesion negative regulation of leukocyte cell-cell adhesion regulation of proteolysis involved in protein catabolic process positive regulation of proteolysis involved in protein catabolic process regulation of trail-activated apoptotic signaling pathway regulation of protein modification by small protein conjugation or removal positive regulation of protein modification by small protein conjugation or removal regulation of nucleic acid-templated transcription regulation of wound healing, spreading of epidermal cells negative regulation of wound healing, spreading of epidermal cells positive regulation of trail-activated apoptotic signaling pathway regulation of cyclin-dependent protein kinase activity negative regulation of cyclin-dependent protein kinase activity regulation of ubiquitin protein ligase activity positive regulation of ubiquitin protein ligase activity regulation of vascular associated smooth muscle cell proliferation negative regulation of vascular associated smooth muscle cell proliferation excitatory synapse assembly cell surface receptor signaling pathway involved in cell-cell signaling regulation of multicellular organismal development regulation of g1/s transition of mitotic cell cycle regulation of ubiquitin-dependent protein catabolic process positive regulation of ubiquitin-dependent protein catabolic process regulation of leukocyte apoptotic process regulation of macrophage apoptotic process negative regulation of g1/s transition of mitotic cell cycle regulation of cell motility negative regulation of cell motility positive regulation of excitatory postsynaptic potential regulation of cellular senescence negative regulation of cellular senescence regulation of synaptic vesicle clustering negative regulation of synaptic vesicle clustering regulation of rna biosynthetic process regulation of apoptotic signaling pathway positive regulation of apoptotic signaling pathway regulation of extrinsic apoptotic signaling pathway positive regulation of extrinsic apoptotic signaling pathway protease binding catalytic activity phosphatidylinositol-3-phosphatase activity phosphoprotein phosphatase activity protein serine/threonine phosphatase activity protein tyrosine phosphatase activity binding protein binding lipid binding anaphase-promoting complex binding phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity hydrolase activity hydrolase activity, acting on ester bonds phosphatase activity myosin phosphatase activity enzyme binding kinase binding protein kinase binding protein domain specific binding pdz domain binding phosphatidylinositol bisphosphate phosphatase activity phosphatidylinositol trisphosphate phosphatase activity phosphoric ester hydrolase activity identical protein binding protein-containing complex binding inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity inositol tetrakisphosphate phosphatase activity phosphatidylinositol monophosphate phosphatase activity inositol phosphate phosphatase activity phosphatidylinositol phosphate phosphatase activity phosphatidylinositol-3,4-bisphosphate phosphatase activity catalytic activity, acting on a protein ubiquitin-specific protease binding extracellular region intracellular anatomical structure nucleus nucleoplasm cytoplasm cytosol plasma membrane cytoplasmic side of plasma membrane membrane apical plasma membrane nuclear body pml body cell junction membrane-enclosed lumen nuclear lumen myelin sheath adaxonal region cell projection neuron projection myelin sheath compact myelin schmidt-lanterman incisure organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen apical part of cell synapse intracellular organelle lumen cell periphery side of membrane cytoplasmic side of membrane plasma membrane region cellular anatomical entity plasma membrane bounded cell projection mixed, incl. apical junction complex, and hippo signaling pathway - multiple species mixed, incl. cell-cell junction organization, and bicellular tight junction tight junction, and guanylate kinase-like domain mixed, incl. establishment or maintenance of epithelial cell apical/basal polarity, and guanylate kinase, conserved site mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, and gangliocytoma inositol phosphate metabolism metabolic pathways egfr tyrosine kinase inhibitor resistance foxo signaling pathway phosphatidylinositol signaling system sphingolipid signaling pathway p53 signaling pathway autophagy - animal mtor signaling pathway pi3k-akt signaling pathway cellular senescence focal adhesion insulin resistance human papillomavirus infection human t-cell leukemia virus 1 infection pathways in cancer micrornas in cancer endometrial cancer glioma prostate cancer melanoma small cell lung cancer breast cancer hepatocellular carcinoma central carbon metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer pip3 activates akt signaling adaptive immune system metabolism inositol phosphate metabolism pi metabolism phospholipid metabolism signal transduction disease synthesis of pips at the plasma membrane immune system synthesis of ip3 and ip4 in the cytosol negative regulation of the pi3k/akt network tcr signaling downstream tcr signaling generic transcription pathway pi3k/akt signaling in cancer transcriptional regulation by tp53 metabolism of proteins metabolism of lipids tp53 regulates metabolic genes diseases of signal transduction by growth factor receptors and second messengers pten loss of function in cancer deubiquitination ub-specific processing proteases ovarian tumor domain proteases post-translational protein modification pten regulation rna polymerase ii transcription gene expression (transcription) regulation of pten mrna translation regulation of pten localization regulation of pten stability and activity transcriptional regulation by mecp2 intracellular signaling by second messengers androgen receptor signaling pathway integrated cancer pathway leptin signaling pathway microtubule cytoskeleton regulation glioblastoma signaling pathways androgen receptor network in prostate cancer t cell receptor and co-stimulatory signaling focal adhesion hepatocyte growth factor receptor signaling copper homeostasis mecp2 and associated rett syndrome circadian rhythm genes pathways affected in adenoid cystic carcinoma hematopoietic stem cell gene regulation by gabp alpha/beta complex pi3k-akt-mtor signaling pathway and therapeutic opportunities factors and pathways affecting insulin-like growth factor (igf1)-akt signaling embryonic stem cell pluripotency pathways focal adhesion: pi3k-akt-mtor-signaling pathway mirna regulation of p53 pathway in prostate cancer clear cell renal cell carcinoma pathways endometrial cancer pi3k-akt signaling pathway somatroph axis (gh) and its relationship to dietary restriction and aging breast cancer pathway extracellular vesicles in the crosstalk of cardiac cells egf/egfr signaling pathway synaptic signaling pathways associated with autism spectrum disorder fragile x syndrome small cell lung cancer head and neck squamous cell carcinoma melanoma il-18 signaling pathway egfr tyrosine kinase inhibitor resistance insulin signaling mbdnf and probdnf regulation of gaba neurotransmission 16p11.2 proximal deletion syndrome p53 transcriptional gene network phosphoinositides metabolism malignant pleural mesothelioma ccl18 signaling pathway t-cell activation sars-cov-2 trop2 regulatory signaling primary ovarian insufficiency ckap4 signaling pathway map dna damage response (only atm dependent) lower respiratory tract disease monogenic disease respiratory system cancer reproductive organ benign neoplasm bannayan-riley-ruvalcaba syndrome organ system cancer cell type cancer autosomal dominant disease autosomal genetic disease developmental disorder of mental health pervasive developmental disorder autism spectrum disorder benign neoplasm organ system benign neoplasm female reproductive organ benign neoplasm central nervous system benign neoplasm uterine benign neoplasm nervous system benign neoplasm thoracic disease pten hamartoma tumor syndrome hepatobiliary system cancer endometrial hyperplasia prostate cancer urinary bladder cancer head and neck cancer female reproductive organ cancer lung cancer proteus syndrome endometrial cancer disease of cellular proliferation reproductive system disease disease of mental health head and neck carcinoma respiratory system disease breast cancer cancer squamous cell carcinoma urinary system disease reproductive organ cancer syndrome female reproductive system disease gangliocytoma endometrial carcinoma endometriosis adenocarcinoma carcinoma glioblastoma multiforme astrocytoma malignant glioma nervous system cancer hepatobiliary disease gastrointestinal system cancer central nervous system disease uterine disease breast disease central nervous system cancer uterine cancer bladder disease male reproductive organ cancer urinary system cancer disease bile duct disease bile duct cancer biliary tract cancer prostate disease male reproductive system disease bile duct adenocarcinoma bile duct carcinoma cholangiocarcinoma thoracic cancer head and neck squamous cell carcinoma genetic disease cowden syndrome disease of anatomical entity gastrointestinal system disease lung disease nervous system disease biliary tract disease tissues, cell types and enzyme sources animal respiratory system digestive gland epithelium gland hematopoietic system integument lymphoid tissue liver lung prostate gland cancer cell spleen endocrine gland whole body viscus immune system intracellular nucleus nucleoplasm cytoplasm cytosol plasma membrane phosphatidylinositol 3-kinase complex cytoplasmic side of plasma membrane membrane apical plasma membrane extrinsic component of membrane membrane-enclosed lumen nuclear lumen protein-containing complex myelin sheath adaxonal region tor complex cell projection myelin sheath compact myelin schmidt-lanterman incisure organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen apical part of cell transferase complex, transferring phosphorus-containing groups intracellular organelle lumen cell periphery side of membrane cytoplasmic side of membrane plasma membrane region membrane protein complex cellular anatomical entity catalytic complex phosphatase complex phosphatidylinositol phosphate phosphatase complex transferase complex pten phosphatase complex functional laterality anthropometric measurement vital signs erythrocyte count erythrocyte indices leukocyte count platelet count body weights and measures blood pressure waist-hip ratio insulin measurement glucose measurement hematological measurement hemoglobin measurement mean corpuscular volume mean corpuscular hemoglobin mean corpuscular hemoglobin concentration hba1c measurement glycoprotein measurement complete blood cell count lymphocyte count sex hormone-binding globulin measurement hormone measurement protein measurement neutrophil count eosinophil count inflammatory biomarker measurement platelet measurement erythrocyte measurement basophil count systolic blood pressure diastolic blood pressure diabetes mellitus biomarker infectious disease biomarker bmi-adjusted waist-hip ratio body ratio measurement platelet crit granulocyte count myeloid white cell count neutrophil percentage of leukocytes eosinophil percentage of leukocytes lymphocyte percentage of leukocytes neutrophil percentage of granulocytes eosinophil percentage of granulocytes handedness reticulocyte measurement mean reticulocyte volume sex hormone measurement abnormality of body height abnormal morphology of female internal genitalia abnormal male internal genitalia morphology abnormality of male external genitalia hydrocele testis abnormal testis morphology abnormal penis morphology long penis abnormality of the scrotum macroorchidism abnormality of the kidney abnormality of the genital system abnormality of the urinary system tall stature renal cyst phenotypic abnormality abnormality of the genitourinary system abnormality of the uterus abnormality of the ovary ovarian cyst polycystic ovaries abnormality of head or neck abnormality of the mouth abnormality of the tongue macroglossia abnormal lip morphology narrow mouth abnormal oral cavity morphology abnormality of the dentition abnormal palate morphology abnormal upper lip morphology narrow palate open mouth high palate furrowed tongue abnormality of the head abnormality of the fontanelles or cranial sutures hydrocephalus abnormality of skull size microcephaly macrocephaly dolichocephaly abnormality of the face long face abnormal mandible morphology abnormality of the philtrum abnormality of the forehead mandibular prognathia abnormality of the chin round face abnormality of the orbital region hypertelorism facial asymmetry abnormality of the maxilla hypoplasia of the maxilla broad forehead long philtrum micrognathia abnormality of the outer ear abnormal location of ears abnormality of the inner ear hearing abnormality hearing impairment abnormality of the nose low-set ears abnormal pinna morphology macrotia abnormal nasal bridge morphology abnormal morphology of the nasal alae wide nose anteverted nares abnormality of the neck abnormality of the eye abnormal retinal morphology abnormal cornea morphology strabismus abnormal eyelid morphology downslanted palpebral fissures abnormality of eye movement glaucoma abnormal conjunctiva morphology abnormality of vision visual impairment ptosis abnormal lens morphology cataract proptosis abnormality iris morphology abnormal chorioretinal morphology pseudopapilledema abnormality of refraction retinal detachment myopia abnormal conjugate eye movement abnormal uvea morphology buphthalmos esotropia chorioretinal coloboma exotropia abnormality of the optic nerve coloboma abnormal sclera morphology abnormality of the ear abnormal choroid morphology abnormal pupil morphology nystagmus amblyopia carious teeth abnormal dental enamel morphology tooth malposition abnormality of the nervous system behavioral abnormality autism autistic behavior delayed speech and language development abnormal thorax morphology abnormal sternum morphology pectus excavatum abnormality of the breast gynecomastia abnormality of the thymus abnormal external genitalia abnormal internal genitalia abnormality of the endocrine system abnormality of the thyroid gland hypothyroidism abnormality of the parathyroid gland abnormality of the adrenal glands hyperthyroidism goiter thyroid adenoma hashimoto thyroiditis diabetes insipidus abnormality of the skeletal system abnormality of the vertebral column abnormality of skeletal maturation abnormal skull morphology abnormality of the skin hyperpigmentation of the skin acanthosis nigricans cafe-au-lait spot hyperkeratosis cutis marmorata edema palmoplantar hyperkeratosis palmoplantar keratoderma melanocytic nevus abnormality of skin pigmentation abnormality of subcutaneous fat tissue lymphedema hirsutism telangiectasia hypopigmentation of the skin multiple lipomas angiokeratoma hemangioma subcutaneous lipoma hypermelanotic macule cavernous hemangioma hypopigmented skin patches thickened skin developmental glaucoma abnormally large globe abnormal fundus morphology heterochromia iridis angioid streaks of the fundus limbal dermoid abnormality of the hand brachydactyly syndactyly hand polydactyly abnormality of the metacarpal bones abnormality of finger abnormal thumb morphology intellectual disability seizure ataxia hypotonia intellectual disability, mild spasticity global developmental delay motor delay abnormal corpus callosum morphology hypertonia gait disturbance generalized hypotonia dysmetria abnormal cerebellum morphology cerebellar vermis hypoplasia cerebellar hypoplasia muscle weakness communicating hydrocephalus tremor hyperreflexia megalencephaly craniosynostosis abnormal joint morphology joint dislocation limitation of joint mobility joint hypermobility abnormal hip joint morphology joint stiffness abnormality of the liver abnormal abdomen morphology subcutaneous nodule broad finger growth abnormality failure to thrive growth delay obesity disproportionate tall stature hemihypertrophy abnormal rib cage morphology asymmetry of the thorax abnormality of the integument abnormal hair morphology abnormality of the nail abnormality of the cardiovascular system congestive heart failure sudden cardiac death abnormal aortic morphology angina pectoris cardiac arrest sudden death abnormality of the spleen splenomegaly abnormal foot morphology abnormality of toe hallux valgus weight loss abnormal metatarsal morphology abnormality of the hallux abnormality of blood and blood-forming tissues abnormal leukocyte morphology talipes lymphopenia abnormal bleeding subcutaneous hemorrhage abnormality of metabolism/homeostasis hypoglycemia abnormal thrombosis abnormal facial shape frontal bossing morphological central nervous system abnormality abnormality of the abdominal organs diarrhea nausea and vomiting abnormal rectum morphology abnormal cerebral morphology bilateral tonic-clonic seizure truncal ataxia intention tremor abnormality of the respiratory system abnormal lung morphology abnormal lung lobation abnormal cerebral ventricle morphology ventriculomegaly generalized non-motor (absence) seizure generalized myoclonic seizure polymicrogyria broad-based gait gait imbalance abnormality of the spinal cord neurological speech impairment clonus intracranial hemorrhage spinal cord compression delayed gross motor development generalized-onset seizure pulmonary embolism generalized hirsutism gastrointestinal hemorrhage hepatomegaly abnormal intestine morphology abnormal large intestine morphology colonic diverticula abnormality of neuronal migration gray matter heterotopia headache abnormal cerebellar vermis morphology intellectual disability, moderate action tremor abnormal brainstem morphology hypoplasia of the brainstem language impairment upper motor neuron dysfunction abnormal cerebral white matter morphology increased intracranial pressure abnormal cortical gyration abnormal cerebral cortex morphology cortical dysplasia supernumerary nipple hematochezia intussusception abnormality of the vasculature vascular dilatation abnormal venous morphology deep venous thrombosis abnormal pelvic girdle bone morphology scoliosis skeletal dysplasia increased susceptibility to fractures neoplasm lymphoma abnormal calvaria morphology abnormality of the immune system recurrent infections immunodeficiency delayed skeletal maturation kyphoscoliosis thin bony cortex recurrent fractures abnormal respiratory system physiology kyphosis abnormality of limb bone morphology abnormality of the lower limb abnormality of the knee genu recurvatum abnormality of the upper limb hip dislocation meningioma melanoma bladder carcinoma thyroid carcinoma abnormal cerebrospinal fluid morphology abnormality of thyroid physiology autoimmunity aplasia/hypoplasia involving the central nervous system breast carcinoma abnormality of the musculature abnormality of the wrist abnormality of the ankles abnormal cortical bone morphology short nose myopathy decreased muscle mass skeletal muscle atrophy visceromegaly abnormal hip bone morphology abnormal form of the vertebral bodies abnormal bone structure spinal canal stenosis abnormal vertebral morphology babinski sign birth length greater than 97th percentile abnormality of connective tissue skeletal muscle hypertrophy myofibrillar myopathy nevus abnormal muscle tone deviation of finger macrodactyly abnormal 5th finger morphology clinodactyly of the 5th finger duplication of hand bones involuntary movements decreased circulating antibody level short stature abnormality of body weight increased body weight decreased body weight cachexia abnormal anterior eye segment morphology abnormal posterior eye segment morphology abnormal lymphocyte morphology abnormality of bone mineral density reduced bone mineral density hemiplegia/hemiparesis neoplasm of the nervous system hematological neoplasm hamartomatous polyposis abnormal nipple morphology thrombophlebitis arterial thrombosis biparietal narrowing cranial hyperostosis mandibular hyperostosis progressive macrocephaly calvarial hyperostosis craniofacial hyperostosis venous thrombosis aortic aneurysm abnormal nasal morphology bowel diverticulosis abnormality of the synovia intestinal polyp depressed nasal bridge abnormal nostril morphology venous insufficiency capillary hemangioma abnormality of humoral immunity abnormality of b cell physiology cellular immunodeficiency facial hyperostosis postnatal macrocephaly renal cell carcinoma generalized hyperkeratosis broad long bones positional foot deformity joint hyperflexibility abnormal finger phalanx morphology abnormal hand morphology broad phalanx finger syndactyly abnormal number of teeth follicular thyroid carcinoma transitional cell carcinoma of the bladder aplasia/hypoplasia of the cerebellar vermis frontal polymicrogyria cranial nerve paralysis cerebellar dysplasia thick corpus callosum hemimegalencephaly abnormal pyramidal sign cerebral dysmyelination aplasia/hypoplasia of the cerebellum abnormal pons morphology aplasia/hypoplasia of the brainstem aplasia/hypoplasia of the cerebrum neoplasm of the gastrointestinal tract neoplasm of the genitourinary tract excessive wrinkled skin irregular hyperpigmentation hypertrophy of skin of soles generalized hyperpigmentation hemangiomatosis depigmentation/hyperpigmentation of skin prematurely aged appearance abnormal subcutaneous fat tissue distribution plantar hyperkeratosis multiple cafe-au-lait spots reduced visual acuity ocular anterior segment dysgenesis abnormality of retinal pigmentation central heterochromia abnormally prominent line of schwalbe retinal nonattachment abnormal iris pigmentation abnormal line of schwalbe morphology abnormality of the palpebral fissures abnormally lax or hyperextensible skin neoplasm of the skin enlarged polycystic ovaries abnormal prostate morphology abdominal wall muscle weakness aplasia/hypoplasia involving the skeleton aplasia/hypoplasia involving bones of the skull aplasia/hypoplasia of the mandible abnormal axial skeleton morphology aplasia/hypoplasia affecting bones of the axial skeleton abnormal adipose tissue morphology duplication of bones involving the upper extremities deviation of the 5th finger deviation of the hand or of fingers of the hand retinal hamartoma abnormality of thumb phalanx adenoma sebaceum shagreen patch bladder neoplasm renal neoplasm broad phalanges of the hand tooth agenesis abnormality of upper limb joint thick nasal alae duplication of phalanx of hand deviation of the hallux polydactyly abnormality of the female genitalia abnormality of the male genitalia sirenomelia hyperextensibility of the knee metatarsus valgus thymus hyperplasia weakness due to upper motor neuron dysfunction hamartoma hamartoma of the eye skin tags fibroma angiofibromas fibroadenoma of the breast neoplasm of the skeletal system abnormal elasticity of skin abnormal meningeal morphology abnormality of the curvature of the vertebral column abnormal immunoglobulin level palmar hyperkeratosis uterine neoplasm gonadal neoplasm urinary tract neoplasm genital neoplasm testicular neoplasm open bite epidermal nevus atonic seizure intellectual disability, severe abnormality of the upper urinary tract abnormal external nose morphology abnormality of immune system physiology abnormal cellular immune system morphology abnormal cerebral subcortex morphology abnormal systemic arterial morphology abnormal glucose homeostasis abnormal blood glucose concentration abnormal cellular physiology abnormality of the gastrointestinal tract abnormal cardiovascular system physiology abnormality of blood circulation internal hemorrhage abnormality of fluid regulation abnormality of dental structure abnormality of skin morphology abnormal epidermal morphology abnormality of skin adnexa morphology dialeptic seizure typical absence seizure abnormal shape of the frontal region vascular skin abnormality abnormal hindbrain morphology abnormal metencephalon morphology abnormal digit morphology broad thumb abnormal long bone morphology abnormality of cranial sutures abnormality of mouth size abnormality of mouth shape generalized abnormality of skin localized skin lesion regional abnormality of skin abnormal hair quantity epidermal thickening abnormality of the internal auditory canal narrow internal auditory canal morphological abnormality of the inner ear abnormal cns myelination abnormal central motor function abnormality of coordination abnormality of higher mental function ankle clonus abdominal symptom arrhythmia abnormality of joint mobility abnormality of adrenal morphology abnormal thyroid morphology neoplasm by histology neoplasm by anatomical site abnormality of facial soft tissue abnormal muscle physiology abnormal skeletal muscle morphology abnormal facial skeleton morphology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology abnormal bone ossification abnormal leukocyte count short digit lipomatous tumor lipoma bone cyst enlarged cerebellum hypoplasia of the pons endometrial carcinoma prostate cancer abnormal renal morphology abnormal reproductive system morphology abnormal respiratory system morphology fibrous tissue neoplasm abnormal homeostasis abnormal eye morphology abnormal eye physiology abnormality of brain morphology abnormal myelination abnormal involuntary eye movements abnormal nervous system physiology abnormal nervous system morphology abnormality of intracranial pressure abnormal inflammatory response increased inflammatory response perisylvian polymicrogyria morphological abnormality of the gastrointestinal tract functional abnormality of the gastrointestinal tract venous malformation anorectal anomaly macule papilloma neurodevelopmental delay neurodevelopmental abnormality abnormal optic disc morphology skin appendage neoplasm hair follicle neoplasm trichilemmoma varicocele esodeviation exodeviation motor seizure abnormal vascular morphology abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology bloody diarrhea epidermal acanthosis constitutional symptom bilateral tonic-clonic seizure with generalized onset ovarian carcinoma abnormal cellular phenotype abnormal spleen morphology clinodactyly abnormal endometrium morphology abnormal vascular physiology kinetic tremor abnormality of muscle size large intestinal polyposis lower extremity joint dislocation soft tissue sarcoma abnormal ocular adnexa morphology hamartoma of the orbital region abnormality of cardiovascular system morphology carcinoma abnormal jaw morphology abnormal tongue morphology abnormality of pulmonary circulation abnormality of cardiovascular system electrophysiology abnormal morphology of the great vessels abnormal ovarian morphology abnormal endocrine morphology abnormal breast morphology abnormal uterus morphology abnormal lymphocyte physiology epithelial neoplasm abnormal ear morphology abnormal ear physiology abnormal oral morphology abnormal reflex abnormal superficial reflex abnormal cranial nerve physiology heterotropia abnormality of the ocular adnexa unusual infection abnormal immune system morphology pulmonary cyst generalized-onset motor seizure myoclonic seizure male reproductive system neoplasm female reproductive system neoplasm abnormality of the musculoskeletal system non-motor seizure abnormal blood vessel morphology abnormal leukocyte physiology abnormal joint physiology finger clinodactyly abnormality of limbs abnormality of limb bone abnormal lower limb bone morphology abnormal upper limb bone morphology abnormal lymphocyte count increased head circumference decreased head circumference abnormal skin morphology of the palm abnormality of the testis size neoplasm of the central nervous system neoplasm of the eye neoplasm of the breast abnormality of movement arteriovenous malformation neoplasm of the thyroid gland sarcoma abnormality of lower limb joint deviation of toes neoplasm of the thymus neoplasm of the lung cognitive impairment abnormal forebrain morphology asymmetric growth lower limb asymmetry upper limb asymmetry neoplasm of the endocrine system mucosal telangiectasiae neoplasm of the respiratory system ovarian neoplasm neoplasm of the adrenal gland neoplasm of the adrenal cortex thyroiditis abnormal cerebral vascular morphology premature skin wrinkling large face bronchogenic cyst vascular neoplasm neoplasm of the rectum visceral angiomatosis abnormality of the lymphatic system lymphangioma hyperostosis exostoses conjunctival hamartoma prostate neoplasm neoplasm of the large intestine benign neoplasm of the central nervous system neoplasm of the male external genitalia abnormal palm morphology abnormality of the plantar skin of foot enlarged ovaries abnormality of globe location abnormality of globe size connective tissue nevi slanting of the palpebral fissure intestinal polyposis neoplasm of fatty tissue acrokeratosis papule skin nodule colorectal polyposis asymmetry of iris pigmentation abnormal liver morphology abnormal frontal bone morphology dysplastic gangliocytoma of the cerebellum abnormal odontoid tissue morphology abnormal lung development acetylation alternative initiation alternative splicing tumor suppressor apoptosis hydrolase lipid metabolism lipid-binding neurogenesis nucleus phosphoprotein ubl conjugation protein phosphatase cytoplasm secreted isopeptide bond autism spectrum disorder dual specificity phosphatase, catalytic domain tyrosine-specific protein phosphatases domain protein-tyrosine phosphatase, catalytic tensin phosphatase, c2 domain protein-tyrosine phosphatase, active site bifunctional phosphatidylinositol trisphosphate phosphatase/dual specificity phosphatase pten protein-tyrosine phosphatase-like tensin-type phosphatase domain c2 domain superfamily pten, phosphatase domain c2 domain of pten tumour-suppressor protein mapk cascade cellular glucose homeostasis regulation of protein phosphorylation positive regulation of protein phosphorylation immune system process immune system development peptide secretion regulation of transcription, dna-templated regulation of transcription by rna polymerase ii protein phosphorylation phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process transport apoptotic process response to stress organelle organization cytoskeleton organization cell communication signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway activation of adenylate cyclase activity cell-cell signaling multicellular organism development protein localization metabolic process cell death negative regulation of cell population proliferation extrinsic apoptotic signaling pathway via death domain receptors protein secretion response to external stimulus response to wounding response to mechanical stimulus response to abiotic stimulus response to carbohydrate response to hexose response to glucose regulation of biosynthetic process positive regulation of biosynthetic process negative regulation of metabolic process positive regulation of metabolic process hormone transport regulation of signal transduction positive regulation of signal transduction negative regulation of signal transduction cellular process response to organic substance negative regulation of peptidase activity regulation of gene expression regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process positive regulation of phosphorus metabolic process positive regulation of macromolecule metabolic process negative regulation of macromolecule metabolic process regulation of cell communication positive regulation of cell communication negative regulation of cell communication regulation of hormone levels regulation of cell death negative regulation of endopeptidase activity programmed cell death protein transport peptide transport cellular component organization phosphorylation regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process protein metabolic process cellular homeostasis stem cell population maintenance cellular component assembly regulation of signaling signaling positive regulation of signaling negative regulation of signaling signal release peptide hormone secretion insulin secretion cell differentiation regulation of proteolysis thyroid gland development regulation of cyclase activity positive regulation of cyclase activity regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process negative regulation of protein-containing complex assembly regulation of protein modification process positive regulation of protein modification process multicellular organismal process developmental process secretion by cell macromolecule localization regulation of peptidyl-serine phosphorylation positive regulation of peptidyl-serine phosphorylation carbohydrate homeostasis response to monosaccharide somatic stem cell population maintenance regulation of rho protein signal transduction endocrine system development intracellular signal transduction establishment of protein localization to extracellular region insulin secretion involved in cellular response to glucose stimulus response to muscle stretch protein modification process neurotrophin signaling pathway regulation of locomotion wound healing regulation of cell population proliferation response to chemical regulation of phosphorylation positive regulation of phosphorylation homeostatic process glucose homeostasis amide transport regulation of apoptotic process negative regulation of apoptotic process regulation of programmed cell death negative regulation of programmed cell death positive regulation of catalytic activity negative regulation of catalytic activity negative regulation of cysteine-type endopeptidase activity involved in apoptotic process macromolecule metabolic process regulation of protein-containing complex assembly regulation of cysteine-type endopeptidase activity involved in apoptotic process regulation of mapk cascade positive regulation of mapk cascade macromolecule modification protein-containing complex organization cellular component biogenesis regulation of cellular component biogenesis negative regulation of molecular function positive regulation of molecular function cellular metabolic process primary metabolic process intermediate filament-based process intermediate filament cytoskeleton organization establishment of protein localization regulation of cell differentiation regulation of adenylate cyclase activity positive regulation of adenylate cyclase activity negative regulation of proteolysis positive regulation of transcription, dna-templated positive regulation of nucleobase-containing compound metabolic process positive regulation of phosphate metabolic process positive regulation of transcription by rna polymerase ii regulation of ras protein signal transduction hormone secretion secretion neurotrophin trk receptor signaling pathway animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process hematopoietic or lymphoid organ development thymus development regulation of response to stimulus positive regulation of response to stimulus negative regulation of response to stimulus system development gland development anatomical structure development cellular developmental process chemical homeostasis regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process response to stimulus regulation of small gtpase mediated signal transduction regulation of cellular component organization negative regulation of cellular component organization regulation of nitrogen compound metabolic process negative regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process localization establishment of localization regulation of protein metabolic process positive regulation of protein metabolic process negative regulation of protein metabolic process regulation of rna metabolic process positive regulation of rna metabolic process regulation of hydrolase activity regulation of lyase activity negative regulation of hydrolase activity positive regulation of lyase activity cellular localization establishment of localization in cell cellular response to stimulus regulation of peptidase activity regulation of endopeptidase activity cellular chemical homeostasis regulation of macromolecule metabolic process head development face development negative regulation of cell death protein-containing complex assembly biological regulation regulation of biological quality regulation of molecular function cellular macromolecule localization response to growth factor cellular response to chemical stimulus cellular response to organic substance cellular response to carbohydrate stimulus cellular response to monosaccharide stimulus cellular response to hexose stimulus cellular response to glucose stimulus cellular response to growth factor stimulus death-inducing signaling complex assembly protein localization to extracellular region organic substance transport organic substance metabolic process nitrogen compound transport cellular component organization or biogenesis regulation of primary metabolic process apoptotic signaling pathway extrinsic apoptotic signaling pathway maintenance of cell number export from cell organonitrogen compound metabolic process response to oxygen-containing compound cellular response to oxygen-containing compound regulation of extrinsic apoptotic signaling pathway via death domain receptors negative regulation of extrinsic apoptotic signaling pathway via death domain receptors regulation of intracellular signal transduction positive regulation of intracellular signal transduction positive regulation of rna biosynthetic process regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription regulation of cysteine-type endopeptidase activity negative regulation of cysteine-type endopeptidase activity regulation of cell motility regulation of rna biosynthetic process regulation of apoptotic signaling pathway negative regulation of apoptotic signaling pathway regulation of extrinsic apoptotic signaling pathway negative regulation of extrinsic apoptotic signaling pathway nucleotide binding catalytic activity protein kinase activity protein serine/threonine kinase activity map kinase kinase kinase activity binding protein binding atp binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding enzyme binding adenyl nucleotide binding small gtpase binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding identical protein binding ion binding anion binding cation binding metal ion binding gtpase binding organic cyclic compound binding carbohydrate derivative binding protein serine kinase activity catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding intracellular anatomical structure nucleus cytoplasm mitochondrion mitochondrial envelope mitochondrial outer membrane golgi apparatus cytosol plasma membrane endomembrane system membrane outer membrane organelle membrane pseudopodium mitochondrial membrane organelle envelope organelle outer membrane envelope cell projection organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle cell periphery bounding membrane of organelle cellular anatomical entity plasma membrane bounded cell projection mixed, incl. small gtpase, ras-type, and ras-like guanine nucleotide exchange factor, n-terminal mixed, incl. signalling to erks, and ras gtpase-activating protein mixed, incl. inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and ras gtpase-activating protein mixed, incl. inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and cardiofaciocutaneous syndrome inhibition of exosome biogenesis and secretion by manumycin a in crpc cells, and cardiofaciocutaneous syndrome negative feedback regulation of mapk pathway, and ras gtpase cycle mutants keratoacanthoma, and vulvar melanoma egfr tyrosine kinase inhibitor resistance endocrine resistance mapk signaling pathway erbb signaling pathway ras signaling pathway rap1 signaling pathway cgmp-pkg signaling pathway camp signaling pathway chemokine signaling pathway foxo signaling pathway sphingolipid signaling pathway phospholipase d signaling pathway autophagy - animal mtor signaling pathway pi3k-akt signaling pathway apoptosis cellular senescence vascular smooth muscle contraction axon guidance vegf signaling pathway apelin signaling pathway focal adhesion gap junction signaling pathways regulating pluripotency of stem cells c-type lectin receptor signaling pathway jak-stat signaling pathway natural killer cell mediated cytotoxicity t cell receptor signaling pathway b cell receptor signaling pathway fc epsilon ri signaling pathway fc gamma r-mediated phagocytosis long-term potentiation neurotrophin signaling pathway serotonergic synapse long-term depression regulation of actin cytoskeleton insulin signaling pathway gnrh signaling pathway progesterone-mediated oocyte maturation estrogen signaling pathway melanogenesis prolactin signaling pathway thyroid hormone signaling pathway oxytocin signaling pathway relaxin signaling pathway parathyroid hormone synthesis, secretion and action gnrh secretion growth hormone synthesis, secretion and action alzheimer disease alcoholism salmonella infection tuberculosis hepatitis c hepatitis b human cytomegalovirus infection influenza a human papillomavirus infection kaposi sarcoma-associated herpesvirus infection human immunodeficiency virus 1 infection pathways in cancer proteoglycans in cancer micrornas in cancer colorectal cancer renal cell carcinoma pancreatic cancer endometrial cancer glioma prostate cancer melanoma bladder cancer chronic myeloid leukemia acute myeloid leukemia non-small cell lung cancer breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer choline metabolism in cancer pd-l1 expression and pd-1 checkpoint pathway in cancer hemostasis adaptive immune system signal transduction disease innate immune system immune system stimuli-sensing channels transport of small molecules rap1 signalling gp1b-ix-v activation signalling c-type lectin receptors (clrs) cd209 (dc-sign) signaling diseases of signal transduction by growth factor receptors and second messengers raf activation raf/map kinase cascade map2k and mapk activation negative feedback regulation of mapk pathway negative regulation of mapk pathway mapk family signaling cascades mapk1/mapk3 signaling signaling by moderate kinase activity braf mutants signaling by high-kinase activity braf mutants signaling by ras mutants signaling by braf and raf1 fusions paradoxical activation of raf signaling by kinase inactive braf oncogenic mapk signaling platelet activation, signaling and aggregation signaling downstream of ras mutants signaling by raf1 mutants signaling by mras-complex mutants shoc2 m1731 mutant abolishes mras complex function gain-of-function mras complexes activate raf signaling ion channel transport il-5 signaling pathway micrornas in cardiomyocyte hypertrophy integrin-mediated cell adhesion thyroxine (thyroid hormone) production thyroid stimulating hormone (tsh) signaling pathway leptin signaling pathway follicle stimulating hormone (fsh) signaling pathway tnf-related weak inducer of apoptosis (tweak) signaling pathway prolactin signaling pathway alzheimers disease and mirna effects endothelin pathways pilocytic astrocytoma glioblastoma signaling pathways androgen receptor network in prostate cancer b cell receptor signaling pathway tnf-alpha signaling pathway age/rage pathway interleukin-11 signaling pathway corticotropin-releasing hormone signaling pathway oncostatin m signaling pathway brain-derived neurotrophic factor (bdnf) signaling pathway retinoblastoma gene in cancer pdgf pathway aryl hydrocarbon receptor pathway common pathways underlying drug addiction nanoparticle-mediated activation of receptor signaling cardiac hypertrophic response bladder cancer il-3 signaling pathway extracellular vesicle-mediated signaling in recipient cells kit receptor signaling pathway focal adhesion hepatocyte growth factor receptor signaling pathways affected in adenoid cystic carcinoma tgf-beta signaling pathway physico-chemical features and toxicity-associated pathways mapk signaling pathway mapk and nfkb signaling pathways inhibited by yersinia yopj erk pathway in huntingtons disease t-cell antigen receptor (tcr) pathway during staphylococcus aureus infection 4-hydroxytamoxifen, dexamethasone, and retinoic acids regulation of p27 expression vegfa-vegfr2 signaling angiopoietin-like protein 8 regulatory pathway chemokine signaling pathway embryonic stem cell pluripotency pathways focal adhesion: pi3k-akt-mtor-signaling pathway pdgfr-beta pathway mirna regulation of prostate cancer signaling pathways endometrial cancer pi3k-akt signaling pathway met in type 1 papillary renal cell carcinoma chromosomal and microsatellite instability in colorectal cancer  mapk cascade ras signaling epithelial to mesenchymal transition in colorectal cancer non-small cell lung cancer breast cancer pathway pancreatic adenocarcinoma pathway inhibition of exosome biogenesis and secretion by manumycin a in crpc cells egf/egfr signaling pathway fragile x syndrome 22q11.2 copy number variation syndrome gastrin signaling pathway hepatitis b infection melanoma thyroid hormones production and peripheral downstream signaling effects netrin-unc5b signaling pathway fgfr3 signaling in chondrocyte proliferation and terminal differentiation egfr tyrosine kinase inhibitor resistance insulin signaling regucalcin in proximal tubule epithelial kidney cells kisspeptin/kisspeptin receptor system in the ovary camkk2 pathway host-pathogen interaction of human coronaviruses - mapk signaling il-2 signaling pathway mapk pathway in congenital thyroid cancer angiotensin ii receptor type 1 pathway malignant pleural mesothelioma t-cell activation sars-cov-2 regulation of actin cytoskeleton alzheimers disease epo receptor signaling erbb signaling pathway t-cell receptor signaling pathway serotonin receptor 2 and elk-srf/gata4 signaling monogenic disease organ system cancer cell type cancer cardiomyopathy autosomal dominant disease autosomal genetic disease integumentary system cancer rasopathy urinary bladder cancer heart disease cardiovascular system disease noonan syndrome with multiple lentigines disease of cellular proliferation integumentary system disease cancer squamous cell carcinoma urinary system disease syndrome carcinoma keratoacanthoma skin squamous cell carcinoma skin carcinoma noonan syndrome bladder disease skin disease urinary system cancer disease skin cancer genetic disease disease of anatomical entity tissues, cell types and enzyme sources animal reproductive system female reproductive system brain embryonic structure cervical carcinoma cell central nervous system head organism form digestive gland embryo erythroleukemia cell fetus gland blood cancer cell bone marrow cancer cell lymphocytic leukemia cell liver pancreas placenta leukemia cell nervous system endocrine gland whole body viscus pronephros chronic lymphocytic leukemia cell urogenital system internal female genital organ intracellular nucleus cytoplasm mitochondrion mitochondrial envelope mitochondrial outer membrane cytosol plasma membrane membrane outer membrane organelle membrane mitochondrial membrane organelle envelope organelle outer membrane envelope organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle cell periphery bounding membrane of organelle cellular anatomical entity cardiovascular disease disease hypertrophy cardiac hypertrophy heart disease cardiovascular measurement anthropometric measurement erythrocyte count erythrocyte indices heart function measurement body weights and measures electrocardiography body height waist circumference waist-hip ratio glucose measurement hematological measurement hemoglobin measurement bone measurement lipid measurement hba1c measurement glycoprotein measurement total cholesterol measurement complete blood cell count low density lipoprotein cholesterol measurement apolipoprotein b measurement sex hormone-binding globulin measurement hormone measurement lipoprotein measurement protein measurement testosterone measurement erythrocyte measurement hip circumference lipid or lipoprotein measurement cardiovascular disease biomarker measurement diabetes mellitus biomarker bmi-adjusted waist-hip ratio bmi-adjusted waist circumference hair morphology measurement hair colour measurement body ratio measurement heart valve disease mitral valve disease sex hormone measurement abnormality of body height cryptorchidism abnormality of male external genitalia abnormal testis morphology abnormal penis morphology hypogonadotropic hypogonadism hypospadias abnormality of the kidney abnormality of the genital system abnormality of the urinary system abnormality of reproductive system physiology phenotypic abnormality abnormality of the genitourinary system hypogonadism decreased fertility abnormality of head or neck abnormality of the mouth wide mouth abnormal lip morphology abnormal oral cavity morphology abnormal palate morphology abnormal lower lip morphology thick lower lip vermilion high palate abnormality of the head abnormality of skull size brachycephaly macrocephaly dolichocephaly abnormality of the face abnormal mandible morphology epicanthus abnormality of the forehead mandibular prognathia abnormality of the chin abnormal midface morphology abnormality of the orbital region hypertelorism triangular face micrognathia high forehead abnormality of the outer ear abnormal location of ears posteriorly rotated ears abnormality of the inner ear hearing abnormality hearing impairment abnormality of the nose low-set, posteriorly rotated ears low-set ears abnormal pinna morphology thickened helices sensorineural hearing impairment abnormal nasal bridge morphology wide nasal bridge abnormality of the neck webbed neck short neck thickened nuchal skin fold cystic hygroma abnormality of the eye strabismus abnormal eyelid morphology downslanted palpebral fissures abnormality of eye movement ptosis proptosis abnormal eyebrow morphology abnormal conjugate eye movement abnormality of the ear nystagmus abnormality of the nervous system abnormal thorax morphology abnormal sternum morphology pectus excavatum pectus carinatum abnormality of the breast abnormal scapula morphology abnormality of the urethra abnormal external genitalia abnormality of the endocrine system sprengel anomaly abnormality of the skeletal system abnormality of the vertebral column abnormality of skeletal maturation abnormal skull morphology abnormality of the skin hyperpigmentation of the skin cafe-au-lait spot dry skin hyperkeratosis edema palmoplantar hyperkeratosis hyperextensible skin palmoplantar keratoderma melanocytic nevus abnormality of skin pigmentation multiple lentigines lymphedema hypermelanotic macule thickened skin abnormality of the hand brachydactyly abnormality of finger abnormality of prenatal development or birth intellectual disability hypotonia intellectual disability, mild dysarthria global developmental delay muscle weakness abnormal joint morphology joint hypermobility abnormality of the liver abnormality of the shoulder girdle musculature abnormal abdomen morphology abnormality of the musculature of the upper limbs freckling subcutaneous nodule growth abnormality growth delay intrauterine growth retardation large for gestational age abnormal rib cage morphology abnormality of the amniotic fluid polyhydramnios abnormality of the integument abnormal hair morphology abnormality of the nail abnormality of the larynx laryngomalacia abnormality of the voice abnormality of the cardiovascular system abnormal heart morphology atrial septal defect abnormal mitral valve morphology mitral valve prolapse abnormal myocardium morphology cardiomyopathy hypertrophic cardiomyopathy abnormal pulmonary valve morphology pulmonic stenosis dilated cardiomyopathy mitral regurgitation abnormal heart valve morphology myocardial infarction abnormal cardiac septum morphology abnormality of the spleen abnormal foot morphology small nail abnormality of blood and blood-forming tissues abnormality of thrombocytes abnormality of neutrophils abnormal leukocyte morphology abnormal bleeding abnormal granulocyte morphology abnormality of coagulation abnormality of metabolism/homeostasis abnormal scalp morphology abnormal facial shape morphological central nervous system abnormality abnormality of the abdominal organs abnormality of the respiratory system abnormality of the upper respiratory tract abnormal lung morphology abnormality of the spinal cord low posterior hairline neurological speech impairment coarse hair curly hair fine hair hepatomegaly spina bifida abnormality of the vasculature vascular dilatation scoliosis neoplasm abnormal calvaria morphology abnormality of the immune system delayed skeletal maturation abnormality of limb bone morphology abnormality of the lower limb abnormality of the upper limb abnormal morphology of the radius melanoma myelodysplasia cubitus valgus abnormal forearm morphology radioulnar synostosis neuroblastoma abnormality of the musculature myopathy elevated circulating creatine kinase concentration visceromegaly spina bifida occulta abnormality of the cervical spine emg abnormality abnormality of connective tissue scapular winging nevus abnormal muscle tone deviation of finger abnormal 5th finger morphology clinodactyly of the 5th finger abnormality of the abdominal wall abnormal endocardium morphology ventricular arrhythmia short stature abnormality of body weight increased body weight abnormal circulating nitrogen compound concentration neoplasm of the nervous system neuroblastic tumor hematological neoplasm abnormal nipple morphology abnormality of the pulmonary artery pulmonary artery stenosis abnormality of the pulmonary vasculature abnormal nasal morphology abnormal cardiac atrium morphology depressed nasal bridge joint hyperflexibility abnormal hand morphology wide intermamillary distance atrioventricular canal defect abnormal atrioventricular valve morphology excessive wrinkled skin irregular hyperpigmentation abnormal dermatoglyphics prematurely aged appearance plantar hyperkeratosis abnormality of the palpebral fissures abnormally lax or hyperextensible skin puberty and gonadal disorders aplasia/hypoplasia of the nails severe sensorineural hearing impairment feeding difficulties in infancy aplasia/hypoplasia involving the skeleton aplasia/hypoplasia involving bones of the skull aplasia/hypoplasia of the mandible abnormal axial skeleton morphology aplasia/hypoplasia affecting bones of the axial skeleton abnormal adipose tissue morphology lipodystrophy abnormality of the musculature of the limbs deviation of the 5th finger deviation of the hand or of fingers of the hand abnormality of the hairline abnormality of upper limb joint abnormality of the elbow spinal dysraphism aplasia/hypoplasia of the abdominal wall musculature abnormality of the male genitalia abnormal elasticity of skin abnormality of the curvature of the vertebral column abnormality of hair texture abnormal hair pattern palmar hyperkeratosis abnormal circulating protein concentration abnormality of the upper urinary tract abnormality of the lower urinary tract abnormal myeloid leukocyte morphology abnormal cellular immune system morphology abnormal morphology of the abdominal musculature abnormality of circulating enzyme level abnormal cardiovascular system physiology abnormality of fluid regulation abnormal helix morphology abnormality of skin morphology abnormality of skin adnexa morphology prominent forehead abnormal digit morphology abnormal long bone morphology abnormality of mouth size generalized abnormality of skin localized skin lesion regional abnormality of skin congenital abnormal hair pattern abnormal hair quantity epidermal thickening morphological abnormality of the vestibule of the inner ear morphological abnormality of the semicircular canal aplasia of the semicircular canal functional abnormality of the inner ear morphological abnormality of the inner ear fetal ultrasound soft marker abnormality of higher mental function abdominal symptom arrhythmia bundle branch block abnormality of joint mobility neoplasm by histology neoplasm by anatomical site midface retrusion abnormal muscle physiology abnormal skeletal muscle morphology abnormal facial skeleton morphology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology abnormal platelet function short digit feeding difficulties abnormal atrial septum morphology abnormal renal morphology abnormal reproductive system morphology abnormal respiratory system morphology abnormal homeostasis abnormal eye morphology abnormal eye physiology thick vermilion border abnormal involuntary eye movements abnormal nervous system physiology abnormal nervous system morphology severe hearing impairment heart block macule neurodevelopmental delay neurodevelopmental abnormality abnormal vascular morphology abnormality of the digestive system abnormality of digestive system physiology abnormal larynx morphology fetal neck anomaly abnormal neck morphology nervous tissue neoplasm neuroectodermal neoplasm neuroepithelial neoplasm primitive neuroectodermal tumor peripheral primitive neuroectodermal neoplasm clinodactyly abnormality of the posterior hairline abnormal ocular adnexa morphology abnormality of cardiovascular system morphology abnormal jaw morphology abnormality of cardiovascular system electrophysiology abnormal morphology of the great vessels abnormal pulmonary artery morphology abnormal breast morphology abnormal mitral valve physiology cardiac conduction abnormality abnormal atrioventricular valve physiology abnormal heart valve physiology abnormal pulmonary valve physiology abnormal ear morphology abnormal ear physiology abnormal oral morphology abnormality of the ocular adnexa abnormal male urethral meatus morphology keratosis pilaris abnormal circulating metabolite concentration abnormal immune system morphology abnormality of the musculoskeletal system abnormal blood vessel morphology acute coronary syndrome fetal anomaly abnormal fetal morphology atrioventricular valve regurgitation abnormal joint physiology finger clinodactyly abnormality of limbs abnormality of limb bone abnormal upper limb bone morphology abnormal morphology of ulna abnormal forearm bone morphology abnormal circulating creatine kinase concentration abnormal intermamillary distance increased head circumference abnormal skin morphology of the palm neural tube defect sparse eyebrow neoplasm of the central nervous system abnormality of the scalp hair synostosis involving bones of the upper limbs synostosis of joints abnormal localization of kidney cognitive impairment lipoatrophy enlarged thorax displacement of the urethral meatus premature skin wrinkling abnormality of the lymphatic system malignant neoplasm of the central nervous system aplasia/hypoplasia of the eyebrow abnormal palm morphology abnormality of the plantar skin of foot abnormality of globe location slanting of the palpebral fissure skin nodule abnormal liver morphology abnormal neural tube morphology alternative splicing atp-binding cardiomyopathy deafness kinase membrane metal-binding methylation mitochondrion nucleus nucleotide-binding phosphoprotein proto-oncogene serine/threonine-protein kinase transferase zinc zinc-finger cytoplasm cell membrane protein kinase domain serine-threonine/tyrosine-protein kinase, catalytic domain protein kinase c-like, phorbol ester/diacylglycerol-binding domain raf-like ras-binding serine/threonine-protein kinase, active site protein kinase-like domain superfamily protein kinase, atp binding site diacylglycerol/phorbol-ester binding ubiquitin-like domain superfamily c1-like domain superfamily protein kinase c conserved region 1 (c1) domains (cysteine-rich domains) raf-like ras-binding domain mapk cascade cell morphogenesis cell morphogenesis involved in differentiation eye development urogenital system development metanephros development ureteric bud development ameboidal-type cell migration neural crest cell migration kidney development mesonephros development embryonic epithelial tube formation regulation of protein phosphorylation positive regulation of protein phosphorylation morphogenesis of an epithelium immune system process immune system development regulation of transcription, dna-templated protein phosphorylation proteolysis phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process activation of cysteine-type endopeptidase activity involved in apoptotic process chemotaxis response to stress cell communication cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules neuron cell-cell adhesion signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway multicellular organism development nervous system development axonogenesis axon guidance sensory organ development midgut development posterior midgut development metabolic process regulation of cell size response to xenobiotic stimulus response to external stimulus anatomical structure morphogenesis embryo development tissue development regulation of biosynthetic process positive regulation of biosynthetic process positive regulation of metabolic process regulation of signal transduction positive regulation of signal transduction cellular process response to organic substance regulation of gene expression regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process positive regulation of phosphorus metabolic process positive regulation of macromolecule metabolic process positive regulation of gene expression regulation of cell communication positive regulation of cell communication positive regulation of cell development regulation of cell death positive regulation of cell death positive regulation of endopeptidase activity positive regulation of peptidase activity regulation of neuron projection development positive regulation of neuron projection development neural crest cell development neural crest cell differentiation regulation of neuron maturation positive regulation of neuron maturation cellular component organization phosphorylation morphogenesis of embryonic epithelium cell migration peptidyl-tyrosine phosphorylation peptidyl-amino acid modification peptidyl-tyrosine modification regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process protein metabolic process nerve development developmental maturation neurogenesis regulation of anatomical structure morphogenesis regulation of signaling signaling positive regulation of signaling cell projection organization cell differentiation regulation of cell adhesion regulation of proteolysis neuron differentiation regulation of cell migration positive regulation of cell migration neuron projection development regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process regulation of cell projection organization positive regulation of cell projection organization regulation of protein modification process positive regulation of protein modification process multicellular organismal process developmental process response to retinoic acid regulation of cellular component size cellular component morphogenesis cell part morphogenesis regulation of peptidyl-serine phosphorylation positive regulation of peptidyl-serine phosphorylation regulation of peptidyl-serine phosphorylation of stat protein positive regulation of peptidyl-serine phosphorylation of stat protein multicellular organismal response to stress membrane protein proteolysis regulation of cell adhesion mediated by integrin positive regulation of cell adhesion mediated by integrin positive regulation of kinase activity response to lipid tube formation tube morphogenesis tube development intracellular signal transduction ureter maturation glial cell-derived neurotrophic factor receptor signaling pathway protein modification process locomotion regulation of locomotion positive regulation of locomotion response to chemical regulation of phosphorylation positive regulation of phosphorylation taxis neuron maturation regulation of apoptotic process camera-type eye development positive regulation of apoptotic process regulation of programmed cell death positive regulation of programmed cell death positive regulation of catalytic activity macromolecule metabolic process positive regulation of cysteine-type endopeptidase activity involved in apoptotic process regulation of cysteine-type endopeptidase activity involved in apoptotic process regulation of mapk cascade positive regulation of mapk cascade macromolecule modification regulation of kinase activity positive regulation of molecular function cellular metabolic process primary metabolic process regulation of cell differentiation positive regulation of cell differentiation regulation of neuron differentiation positive regulation of cell adhesion positive regulation of cell size positive regulation of proteolysis positive regulation of transcription, dna-templated positive regulation of nucleobase-containing compound metabolic process positive regulation of phosphate metabolic process response to pain cell development cell maturation autonomic nervous system development enteric nervous system development animal organ development positive regulation of biological process positive regulation of cellular process hematopoietic or lymphoid organ development mucosa-associated lymphoid tissue development peyers patch development digestive tract development regulation of response to stimulus positive regulation of response to stimulus embryonic morphogenesis anatomical structure formation involved in morphogenesis neuron development cell morphogenesis involved in neuron differentiation generation of neurons tissue morphogenesis system development mesenchymal cell differentiation animal organ maturation neuron projection morphogenesis anatomical structure development cell projection morphogenesis stem cell differentiation stem cell development cellular developmental process cell motility sensory system development regulation of axonogenesis regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process response to stimulus leukocyte migration positive regulation of developmental process regulation of cellular component organization positive regulation of cellular component organization regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process regulation of multicellular organismal process positive regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process regulation of rna metabolic process positive regulation of rna metabolic process regulation of hydrolase activity regulation of transferase activity positive regulation of hydrolase activity positive regulation of transferase activity cellular response to stimulus regulation of protein kinase b signaling positive regulation of protein kinase b signaling regulation of peptidase activity regulation of endopeptidase activity digestive system development retina development in camera-type eye regulation of macromolecule metabolic process regulation of cell development innervation epithelium development mesenchyme development epithelial tube morphogenesis peyers patch morphogenesis axon development biological regulation regulation of biological quality regulation of molecular function cellular response to chemical stimulus cellular response to retinoic acid cellular response to organic substance cellular response to lipid mononuclear cell migration anatomical structure maturation organic substance metabolic process cellular component organization or biogenesis renal system development kidney epithelium development mesonephric epithelium development mesonephric tubule development epithelial tube formation ureter development regulation of metanephros development positive regulation of metanephros development regulation of metanephric glomerulus development positive regulation of metanephric glomerulus development lymphocyte migration regulation of primary metabolic process regulation of anatomical structure size regulation of kidney development positive regulation of kidney development regulation of glomerulus development positive regulation of glomerulus development mesenchymal cell migration lymphocyte migration into lymphoid organs neuron projection guidance cell-cell adhesion cell-cell adhesion via plasma-membrane adhesion molecules regulation of plasma membrane bounded cell projection organization plasma membrane bounded cell projection organization plasma membrane bounded cell projection morphogenesis visual system development organonitrogen compound metabolic process response to oxygen-containing compound cellular response to oxygen-containing compound regulation of intracellular signal transduction positive regulation of intracellular signal transduction positive regulation of rna biosynthetic process regulation of cell maturation positive regulation of cell maturation regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription regulation of cysteine-type endopeptidase activity regulation of cell motility positive regulation of cell motility positive regulation of cysteine-type endopeptidase activity regulation of rna biosynthetic process regulation of apoptotic signaling pathway positive regulation of apoptotic signaling pathway regulation of extrinsic apoptotic signaling pathway positive regulation of extrinsic apoptotic signaling pathway regulation of extrinsic apoptotic signaling pathway in absence of ligand positive regulation of extrinsic apoptotic signaling pathway in absence of ligand nucleotide binding catalytic activity protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity transmembrane signaling receptor activity binding calcium ion binding atp binding kinase activity transferase activity transferase activity, transferring phosphorus-containing groups phosphotransferase activity, alcohol group as acceptor purine nucleotide binding transmembrane receptor protein kinase activity adenyl nucleotide binding ribonucleotide binding purine ribonucleotide binding adenyl ribonucleotide binding purine ribonucleoside triphosphate binding small molecule binding signaling receptor activity ion binding anion binding cation binding metal ion binding molecular transducer activity organic cyclic compound binding carbohydrate derivative binding catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding intracellular anatomical structure cytoplasm endosome early endosome plasma membrane integral component of plasma membrane endosome membrane endomembrane system vesicle membrane membrane integral component of membrane axon dendrite cytoplasmic vesicle membrane organelle membrane intrinsic component of membrane intrinsic component of plasma membrane cytoplasmic vesicle vesicle protein-containing complex somatodendritic compartment cell projection neuron projection neuronal cell body organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle receptor complex cell body membrane raft cell periphery dendritic tree intracellular vesicle bounding membrane of organelle membrane protein complex plasma membrane protein complex membrane microdomain cellular anatomical entity plasma membrane bounded cell projection mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and sh2 domain superfamily mixed, incl. constitutive signaling by aberrant pi3k in cancer, and tyrosine-protein kinase, catalytic domain mixed, incl. nerve growth factor signaling pathway, and glial cell line-derived neurotrophic factor family glial cell line-derived neurotrophic factor family, and gdnf receptor alpha peyers patch morphogenesis, and gdnf receptor alpha pathways in cancer thyroid cancer central carbon metabolism in cancer developmental biology signal transduction generic transcription pathway axon guidance raf/map kinase cascade mapk family signaling cascades mapk1/mapk3 signaling rna polymerase ii transcription gene expression (transcription) ret signaling transcriptional regulation by npas4 nervous system development npas4 regulates expression of target genes aryl hydrocarbon receptor pathway dopaminergic neurogenesis genes controlling nephrogenesis gdnf/ret signaling axis development of ureteric collection system neurogenesis regulation in the olfactory epithelium sudden infant death syndrome (sids) susceptibility pathways lower respiratory tract disease monogenic disease multiple endocrine neoplasia type 2a familial medullary thyroid carcinoma respiratory system cancer organ system cancer cell type cancer autosomal dominant disease autosomal genetic disease pheochromocytoma paraganglioma benign neoplasm cell type benign neoplasm organ system benign neoplasm endocrine organ benign neoplasm nervous system benign neoplasm thyroid gland adenocarcinoma differentiated thyroid gland carcinoma multiple endocrine neoplasia type 2b hirschsprungs disease megacolon lung cancer disease of cellular proliferation respiratory system disease cancer endocrine gland cancer thyroid gland cancer neuroma syndrome endocrine system disease thyroid adenoma adenocarcinoma carcinoma papillary carcinoma multiple endocrine neoplasia thyroid gland follicular carcinoma thyroid gland carcinoma thyroid gland medullary carcinoma disease thyroid gland disease multiple mucosal neuroma intestinal disease colonic disease follicular adenoma genetic disease adenoma disease of anatomical entity gastrointestinal system disease lung disease nervous system disease tissues, cell types and enzyme sources animal alimentary canal male reproductive gland reproductive system male reproductive system blood brain embryonic structure carcinoma cell medullary thyroid carcinoma cell medullary carcinoma cell thyroid cancer cell central nervous system head organism form embryo epithelioma cell epithelium connective tissue fibroblast gland gut gut wall hematopoietic system hematopoietic cell integument leukocyte prostate gland nervous system endocrine gland whole body viscus thyroid cancer cell line thyroid cell line prostate gland epithelium enteric nervous system autonomic nervous system thyroid nodule medullary thyroid carcinoma cell line tt cell urogenital system internal male genital organ papillary thyroid cancer cell intracellular cytoplasm endosome plasma membrane integral component of plasma membrane endosome membrane endomembrane system vesicle membrane membrane integral component of membrane cytoplasmic vesicle membrane organelle membrane intrinsic component of membrane intrinsic component of plasma membrane cytoplasmic vesicle vesicle protein-containing complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle receptor complex cell periphery intracellular vesicle bounding membrane of organelle membrane protein complex plasma membrane protein complex cellular anatomical entity sign or symptom pain cleft lip protein measurement smoking behaviour measurement cigarettes per day measurement mental or behavioural disorder biomarker blood protein measurement proto-oncogene tyrosine-protein kinase receptor ret measurement cannabis dependence measurement abnormality of body height abnormal morphology of female internal genitalia abnormality of the kidney abnormality of the genital system abnormality of the urinary system proteinuria tall stature renal agenesis phenotypic abnormality abnormality of the genitourinary system abnormality of the uterus abnormality of head or neck abnormality of the mouth abnormality of the tongue abnormal lip morphology abnormal oral cavity morphology abnormal palate morphology cleft palate abnormal upper lip morphology abnormal lower lip morphology thick lower lip vermilion narrow palate oral cleft cleft upper lip high palate abnormality of the head abnormality of the face epicanthus abnormality of the orbital region hypertelorism abnormality of the outer ear abnormal location of ears posteriorly rotated ears hearing abnormality hearing impairment abnormality of the nose low-set ears abnormal pinna morphology sensorineural hearing impairment depressed nasal ridge abnormality of the eye abnormal retinal morphology abnormal cornea morphology strabismus abnormal eyelid morphology downslanted palpebral fissures abnormality of eye movement abnormal lens morphology cataract developmental cataract abnormal eyebrow morphology abnormal conjugate eye movement thick eyebrow abnormality of the ear abnormality of the nervous system behavioral abnormality anxiety abnormal peripheral nervous system morphology abnormal thorax morphology abnormal sternum morphology pectus excavatum nephrolithiasis abnormal internal genitalia abnormality of the endocrine system abnormality of the thyroid gland hypertension abnormality of the parathyroid gland abnormality of the adrenal glands hyperparathyroidism goiter episodic hypertension abnormality of the skeletal system abnormality of the vertebral column abnormality of the skin hyperpigmentation of the skin cafe-au-lait spot hyperhidrosis pallor abnormality of skin pigmentation abnormality of subcutaneous fat tissue hemangioma hypermelanotic macule hypertensive retinopathy abnormal fundus morphology abnormality of the hand abnormality of finger abnormal thumb morphology adducted thumb abnormality of prenatal development or birth intellectual disability seizure hypotonia global developmental delay generalized hypotonia muscle weakness cerebral hemorrhage joint laxity abnormality of the liver growth abnormality failure to thrive growth delay small for gestational age disproportionate tall stature failure to thrive in infancy prenatal movement abnormality decreased fetal movement abnormality of the amniotic fluid polyhydramnios oligohydramnios fetal polyuria abnormality of the integument abnormal hair morphology abnormality of the cardiovascular system congestive heart failure tachycardia abnormal foot morphology pes cavus weight loss abnormality of blood and blood-forming tissues abnormal bleeding renal artery stenosis abnormality of metabolism/homeostasis hypoglycemia nonketotic hypoglycemia palpitations organic aciduria morphological central nervous system abnormality abnormality of the abdominal organs diarrhea nausea and vomiting constipation gastroesophageal reflux abdominal pain abnormal esophagus morphology abnormality of the respiratory system abnormal lung morphology pulmonary hypoplasia respiratory insufficiency apnea hypercalciuria intracranial hemorrhage abnormal intestine morphology abnormal large intestine morphology aganglionic megacolon colonic diverticula abnormality of the autonomic nervous system headache sleep disturbance tracheoesophageal fistula abnormality of the vasculature hypertension associated with pheochromocytoma scoliosis neoplasm pheochromocytoma paraganglioma high, narrow palate abnormality of the immune system lymphadenopathy adrenal overactivity abnormal lymph node morphology kyphoscoliosis abnormal tracheal morphology hypoventilation abnormal pattern of respiration abnormal respiratory system physiology kyphosis abnormality of limb bone morphology abnormality of the lower limb abnormality of the upper limb abnormality of femur morphology paraganglioma of head and neck medullary thyroid carcinoma thyroid carcinoma neoplasm of the liver parathyroid adenoma ganglioneuroma neuroblastoma abnormality of the musculature hypercalcemia abnormality of urine homeostasis abnormal blood ion concentration abnormal circulating hormone concentration increased circulating cortisol level elevated circulating parathyroid hormone level myopathy skeletal muscle atrophy abdominal distention hyperlordosis elevated urinary norepinephrine abnormal femoral neck/head morphology abnormal femoral head morphology elevated calcitonin abnormality of connective tissue positive regitine blocking test elevated urinary epinephrine reduced subcutaneous adipose tissue abnormal muscle tone ventricular arrhythmia short stature abnormality of body weight decreased body weight abnormal anterior eye segment morphology abnormal posterior eye segment morphology abnormality of enteric ganglion morphology abnormal circulating calcium concentration abnormality of temperature regulation neoplasm of the nervous system neuroblastic tumor gastrointestinal obstruction abnormal nasal morphology abnormal sacrum morphology intestinal obstruction bowel diverticulosis intestinal polyp abnormal tracheobronchial morphology abnormal epiphysis morphology breathing dysregulation nodular goiter proximal femoral epiphysiolysis abnormality of femoral epiphysis abnormality of lower limb epiphysis morphology abnormal limb epiphysis morphology aplasia/hypoplasia of the lungs ganglioneuroblastoma central hypoventilation proximal amyotrophy neoplasm of the gastrointestinal tract neoplasm of the genitourinary tract irregular hyperpigmentation hypohidrosis or hyperhidrosis ocular anterior segment dysgenesis abnormal retinal vascular morphology abnormality of the vasculature of the eye abnormality of the palpebral fissures primary hyperparathyroidism parathyroid hyperplasia thyroid hyperplasia renal hypoplasia/aplasia abnormal renal artery morphology abnormal axial skeleton morphology abnormal adipose tissue morphology abnormality of the female genitalia sirenomelia sleep apnea central sleep apnea abnormality of the epiphysis of the femoral head neoplasm of the skeletal system abnormality of the curvature of the vertebral column prominent corneal nerve fibers abnormal blood inorganic cation concentration abnormal blood cation concentration abnormality of the upper urinary tract abnormal external nose morphology abnormality of immune system physiology abnormal systemic arterial morphology abnormal glucose homeostasis abnormal blood glucose concentration abnormality of the gastrointestinal tract abnormal cardiovascular system physiology abnormality of blood circulation internal hemorrhage amyloidosis abnormal nasal dorsum morphology abnormality of skin morphology abnormality of skin adnexa morphology abnormality of the urinary system physiology abnormality of urine calcium concentration abnormality of urine catecholamine level abnormal digit morphology abnormal long bone morphology generalized abnormality of skin localized skin lesion functional abnormality of the inner ear abnormality of higher mental function abdominal symptom abnormal corneal stroma morphology arrhythmia abnormality of joint mobility abnormality of circulating cortisol level abnormality of adrenal physiology abnormality of the parathyroid morphology abnormality of the parathyroid physiology abnormal thyroid morphology thyroid c cell hyperplasia neoplasm by histology neoplasm by anatomical site abnormal muscle physiology abnormal skeletal muscle morphology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology feeding difficulties elevated urinary catecholamines elevated urinary vanillylmandelic acid elevated urinary dopamine aciduria abnormality of circulating glucocorticoid level abnormal renal morphology abnormal reproductive system morphology abnormal respiratory system morphology cutaneous amyloidosis abnormal autonomic nervous system morphology abnormal autonomic nervous system physiology abnormal homeostasis abnormal eye morphology abnormal eye physiology abnormal blood gas level hypercapnia hypoxemia abnormality of brain morphology thick vermilion border pain abnormal urinary electrolyte concentration abnormal nervous system physiology abnormal nervous system morphology morphological abnormality of the gastrointestinal tract functional abnormality of the gastrointestinal tract macule neurodevelopmental delay neurodevelopmental abnormality abnormal uterine cervix morphology abnormal urine protein level abnormal vascular morphology abnormality of enteric nervous system morphology abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology constitutional symptom ganglioneuromatosis abnormal esophagus physiology abnormality of skin adnexa physiology cervical lymphadenopathy thyroid nodule nervous tissue neoplasm neuroectodermal neoplasm neuroepithelial neoplasm primitive neuroectodermal tumor peripheral primitive neuroectodermal neoplasm abnormality of muscle size neuroma neoplasm of the autonomic nervous system abnormal ocular adnexa morphology abnormality of cardiovascular system morphology abnormal tongue morphology neck pain abnormality of cardiovascular system electrophysiology abnormal systemic blood pressure multiple mucosal neuromas flushing impairment in personality functioning abnormal ear morphology abnormal ear physiology abnormal oral morphology abnormal urine carboxylic acid level abnormality of the ocular adnexa abnormal circulating metabolite concentration cervical neoplasm increased blood pressure cutaneous lichen amyloidosis abnormal urine ph abnormality of the musculoskeletal system acute phase response abnormal blood vessel morphology abnormal urine metabolite level abnormal renal vascular morphology abnormal intrarenal artery morphology fetal anomaly abnormal fetal physiology abnormal joint physiology decreased adipose tissue abnormality of limbs abnormality of limb bone abnormal lower limb bone morphology elevated urinary carboxylic acid pain in head and neck region neoplasm of the central nervous system neoplasm of the peripheral nervous system neoplasm of the thyroid gland non-midline cleft lip neoplasm of the lung abnormal calcium-phosphate regulating hormone level cognitive impairment arterial stenosis neoplasm of the endocrine system urogenital fistula neoplasm of the respiratory system neuroendocrine neoplasm abnormal cerebral vascular morphology neoplasm of the parathyroid gland hypertensive crisis vascular neoplasm chest pain abnormality of the lymphatic system sepsis malignant neoplasm of the central nervous system abnormal fear/anxiety-related behavior abnormality of globe location slanting of the palpebral fissure intestinal polyposis abnormality of the peripheral nervous system cleft lip abnormal blood carbon dioxide level abnormal blood oxygen level abnormal lung development alternative splicing atp-binding cell adhesion chromosomal rearrangement glycoprotein hirschsprung disease kinase membrane nucleotide-binding phosphoprotein proto-oncogene signal transferase transmembrane tyrosine-protein kinase endosome cell membrane disulfide bond transmembrane helix protein kinase domain serine-threonine/tyrosine-protein kinase, catalytic domain cadherin-like tyrosine-protein kinase, active site protein kinase-like domain superfamily cadherin-like superfamily tyrosine-protein kinase, ret receptor protein kinase, atp binding site tyrosine-protein kinase, catalytic domain tyrosine-protein kinase receptor ret, cadherin like domain 3 ret, cadherin like domain 1 ret, cadherin-like domain 4 cadherin repeats. tyrosine kinase, catalytic domain eye development in utero embryonic development system process muscle system process generation of precursor metabolites and energy cellular ion homeostasis cellular metal ion homeostasis cellular copper ion homeostasis organelle organization mitochondrion organization multicellular organism development sensory organ development metabolic process respiratory chain complex iv assembly embryo development embryo development ending in birth or egg hatching cellular process response to activity energy derivation by oxidation of organic compounds cellular component organization cytochrome complex assembly cellular homeostasis cellular component assembly electron transport chain respiratory electron transport chain cellular cation homeostasis multicellular organismal process developmental process mitochondrial respiratory chain complex assembly mitochondrial cytochrome c oxidase assembly homeostatic process chordate embryonic development protein-containing complex organization cellular component biogenesis cellular metabolic process cellular respiration cellular transition metal ion homeostasis animal organ development system development anatomical structure development chemical homeostasis sensory system development ion homeostasis response to stimulus metal ion homeostasis copper ion homeostasis transition metal ion homeostasis cation homeostasis cellular chemical homeostasis protein-containing complex assembly biological regulation regulation of biological quality cellular component organization or biogenesis inorganic ion homeostasis visual system development catalytic activity binding copper ion binding protein-disulfide reductase activity disulfide oxidoreductase activity oxidoreductase activity metallochaperone activity copper chaperone activity oxidoreductase activity, acting on a sulfur group of donors ion binding cation binding metal ion binding transition metal ion binding catalytic activity, acting on a protein molecular carrier activity intracellular anatomical structure cytoplasm mitochondrion mitochondrial envelope mitochondrial inner membrane mitochondrial matrix cytosol membrane integral component of membrane organelle inner membrane myofibril organelle membrane intrinsic component of membrane intrinsic component of organelle membrane integral component of organelle membrane intrinsic component of mitochondrial inner membrane integral component of mitochondrial inner membrane mitochondrial membrane organelle envelope membrane-enclosed lumen envelope integral component of mitochondrial membrane organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen contractile fiber intracellular organelle lumen intrinsic component of mitochondrial membrane supramolecular complex supramolecular polymer supramolecular fiber cellular anatomical entity respiratory electron transport, atp synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., and cytochrome complex respiratory electron transport, atp synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., and cytochrome complex respiratory electron transport, atp synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., and cytochrome complex respiratory chain complex iv assembly, and mitochondrial splicing suppressor 51-like, c-terminal domain respiratory chain complex iv assembly respiratory chain complex iv assembly heme a metabolic process, and narp syndrome central carbon metabolism in cancer the citric acid (tca) cycle and respiratory electron transport metabolism respiratory electron transport, atp synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. generic transcription pathway cellular responses to stress transcriptional regulation by tp53 tp53 regulates metabolic genes respiratory electron transport rna polymerase ii transcription gene expression (transcription) cellular responses to stimuli cytoprotection by hmox1 cellular response to chemical stress p53 transcriptional gene network disease of metabolism sensory system disease cardiomyopathy charcot-marie-tooth disease heart disease myopia cardiovascular system disease musculoskeletal system disease leigh disease cytochrome-c oxidase deficiency disease disease neuromuscular disease eye disease peripheral nervous system disease genetic disease inherited metabolic disorder disease of anatomical entity mitochondrial metabolism disease nervous system disease neuropathy refractive error tissues, cell types and enzyme sources animal blood hematopoietic system hematopoietic cell leukocyte monocyte mononuclear cell phagocyte mononuclear phagocyte marrow cell whole body intracellular cytoplasm mitochondrion mitochondrial envelope mitochondrial inner membrane mitochondrial matrix membrane integral component of membrane organelle inner membrane myofibril organelle membrane intrinsic component of membrane intrinsic component of organelle membrane integral component of organelle membrane intrinsic component of mitochondrial inner membrane integral component of mitochondrial inner membrane mitochondrial membrane organelle envelope membrane-enclosed lumen envelope integral component of mitochondrial membrane protein-containing complex organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen contractile fiber intracellular organelle lumen intrinsic component of mitochondrial membrane supramolecular complex supramolecular polymer supramolecular fiber cellular anatomical entity metallochaperone complex erythrocyte indices leukocyte count hematological measurement mean corpuscular volume mean corpuscular hemoglobin complete blood cell count metabolite measurement erythrocyte measurement red blood cell distribution width serum metabolite measurement granulocyte count myeloid white cell count granulocyte percentage of myeloid white cells reticulocyte measurement mean reticulocyte volume phenotypic abnormality abnormality of head or neck abnormality of the head abnormality of the face abnormality of facial musculature abnormality of the eye strabismus abnormality of eye movement ptosis abnormality of refraction myopia abnormal conjugate eye movement exotropia abnormality of the nervous system abnormal peripheral nervous system morphology hypotonia dysarthria global developmental delay motor delay areflexia gait disturbance generalized hypotonia abnormal cranial nerve morphology reduced tendon reflexes muscle weakness facial diplegia abnormality of the cardiovascular system abnormal heart morphology abnormal myocardium morphology cardiomyopathy hypertrophic cardiomyopathy abnormal foot morphology pes planus abnormality of metabolism/homeostasis acidosis morphological central nervous system abnormality abnormal cerebral morphology abnormality of the respiratory system dyspnea respiratory distress abnormal basal ganglia morphology increased serum lactate impaired vibration sensation in the lower limbs neurological speech impairment gliosis incoordination clumsiness frequent falls fasciculations increased csf lactate impaired vibratory sensation neuronal loss in central nervous system abnormal pattern of respiration abnormal respiratory system physiology abnormality of the lower limb abnormal cerebrospinal fluid morphology abnormality of the musculature abnormal blood ion concentration lactic acidosis skeletal muscle atrophy steppage gait emg: chronic denervation signs emg: neuropathic changes emg abnormality somatic sensory dysfunction limb muscle weakness generalized amyotrophy abnormal muscle tone functional motor deficit involuntary movements abnormality of acid-base homeostasis cranial nerve paralysis basal ganglia gliosis motor polyneuropathy lower limb muscle weakness atrophy/degeneration affecting the central nervous system limited extraocular movements feeding difficulties in infancy foot dorsiflexor weakness generalized limb muscle atrophy abnormality of the musculature of the limbs peripheral neuropathy facial palsy abnormality of the seventh cranial nerve impaired proprioception abnormal circulating copper concentration abnormal blood cation concentration abnormal cerebral subcortex morphology abnormal blood transition element cation concentration abnormal central motor function abnormality of coordination abnormality of higher mental function abdominal symptom abnormality of facial soft tissue abnormal muscle physiology abnormal skeletal muscle morphology feeding difficulties abnormal homeostasis abnormal eye physiology abnormality of brain morphology abnormal nervous system physiology abnormal nervous system morphology neurodevelopmental delay neurodevelopmental abnormality exodeviation abnormality of the digestive system abnormality of digestive system physiology abnormal csf metabolite concentration abnormal csf lactate concentration abnormality of muscle size weakness of facial musculature abnormality of cardiovascular system morphology abnormal reflex abnormal cranial nerve physiology heterotropia abnormal circulating metabolite concentration abnormality of the musculoskeletal system abnormality of limbs abnormality of movement abnormal forebrain morphology abnormal glial cell morphology neuronal loss in basal ganglia cardiomyopathy chaperone copper leigh syndrome membrane metal-binding mitochondrion transit peptide transmembrane mitochondrion inner membrane disulfide bond transmembrane helix primary mitochondrial disease sco1/senc copper chaperone sco1/senc thioredoxin domain synthesis of cytochrome c oxidase, sco1/sco2 thioredoxin-like superfamily generation of precursor metabolites and energy protein adp-ribosylation protein deacetylation nitrogen compound metabolic process metabolic process aerobic respiration regulation of biosynthetic process positive regulation of biosynthetic process positive regulation of metabolic process cellular process regulation of macromolecule biosynthetic process energy derivation by oxidation of organic compounds peptidyl-amino acid modification peptidyl-lysine modification regulation of lipid metabolic process regulation of metabolic process protein metabolic process regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process regulation of cellular amide metabolic process positive regulation of cellular amide metabolic process peptidyl-lysine deacetylation protein deacylation protein modification process positive regulation of catalytic activity macromolecule metabolic process macromolecule modification regulation of cellular component biogenesis positive regulation of molecular function cellular metabolic process primary metabolic process cellular respiration positive regulation of lipid metabolic process positive regulation of lipid biosynthetic process regulation of lipid biosynthetic process positive regulation of biological process positive regulation of cellular process regulation of biological process regulation of catalytic activity regulation of cellular process regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of oxidoreductase activity positive regulation of oxidoreductase activity regulation of macromolecule metabolic process biological regulation regulation of molecular function organic substance metabolic process regulation of primary metabolic process regulation of sphingolipid biosynthetic process positive regulation of sphingolipid biosynthetic process macromolecule deacylation organonitrogen compound metabolic process regulation of superoxide dismutase activity positive regulation of superoxide dismutase activity regulation of catalase activity positive regulation of catalase activity regulation of membrane lipid metabolic process regulation of ceramide biosynthetic process positive regulation of ceramide biosynthetic process regulation of peroxidase activity positive regulation of peroxidase activity nucleotide binding nucleic acid binding dna binding catalytic activity nad+ adp-ribosyltransferase activity histone deacetylase activity binding zinc ion binding transferase activity glycosyltransferase activity pentosyltransferase activity hydrolase activity hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides nad-dependent histone deacetylase activity deacetylase activity protein lysine deacetylase activity nad-dependent protein deacetylase activity small molecule binding ion binding anion binding cation binding sequence-specific dna binding metal ion binding transition metal ion binding nad binding nad+ binding organic cyclic compound binding catalytic activity, acting on a protein nucleoside phosphate binding heterocyclic compound binding intracellular anatomical structure nucleus nucleoplasm cytoplasm mitochondrion mitochondrial matrix membrane-enclosed lumen nuclear lumen protein-containing complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen intracellular organelle lumen cellular anatomical entity mixed, incl. fatty acid beta-oxidation, and amp-binding, conserved site acylphosphatase, and acetate-coa ligase nicotinate and nicotinamide metabolism metabolic pathways central carbon metabolism in cancer mitochondrial biogenesis organelle biogenesis and maintenance generic transcription pathway transcriptional activation of mitochondrial biogenesis rna polymerase ii transcription gene expression (transcription) foxo-mediated transcription foxo-mediated transcription of oxidative stress, metabolic and neuronal genes regulation of foxo transcriptional activity by acetylation energy metabolism nad metabolism, sirtuins and aging nad+ metabolism nad+ biosynthetic pathways nad metabolism in oncogene-induced senescence and mitochondrial dysfunction-associated senescence tissues, cell types and enzyme sources animal male reproductive gland reproductive system male reproductive system female reproductive system sense organ respiratory system female reproductive gland head digestive gland epididymis gland gonad blood cancer cell lymphocytic leukemia cell liver lung mouth leukemia cell testis tongue endocrine gland whole body viscus urogenital system internal male genital organ intracellular nucleus nucleoplasm cytoplasm mitochondrion mitochondrial matrix membrane-enclosed lumen nuclear lumen protein-containing complex organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle organelle lumen intracellular organelle lumen cellular anatomical entity age temporal measurement erythrocyte indices leukocyte count glucose measurement hematological measurement hemoglobin measurement mean corpuscular volume mean corpuscular hemoglobin concentration hba1c measurement glycoprotein measurement mean platelet volume complete blood cell count lymphocyte count age at menarche protein measurement platelet measurement erythrocyte measurement diabetes mellitus biomarker infectious disease biomarker autoimmune disease biomarker mental or behavioural disorder biomarker wellbeing measurement lymphocyte percentage of leukocytes reticulocyte measurement mean reticulocyte volume abnormality of the genital system abnormality of reproductive system physiology phenotypic abnormality abnormality of the genitourinary system menorrhagia abnormality of the menstrual cycle abnormality of blood and blood-forming tissues abnormal bleeding abnormal female reproductive system physiology alternative splicing metal-binding mitochondrion nad transferase transit peptide zinc sir2 family sirtuin family sirtuin family, catalytic core domain sirtuin, catalytic core small domain superfamily dhs-like nad/fad-binding domain superfamily regulation of dna recombination negative regulation of transcription by rna polymerase ii regulation of endothelial cell proliferation positive regulation of endothelial cell proliferation regulation of peptide secretion positive regulation of peptide secretion regulation of carbohydrate metabolic process regulation of glycolytic process regulation of gluconeogenesis nucleobase-containing compound metabolic process regulation of nucleotide metabolic process dna metabolic process dna repair regulation of dna repair base-excision repair double-strand break repair chromatin organization chromatin remodeling regulation of transcription, dna-templated regulation of transcription by rna polymerase ii protein adp-ribosylation protein deacetylation cellular aromatic compound metabolic process nitrogen compound metabolic process response to stress cellular response to dna damage stimulus organelle organization multicellular organism development heart development circadian rhythm metabolic process positive regulation of cell population proliferation negative regulation of cell population proliferation determination of adult lifespan biosynthetic process response to radiation response to uv response to light stimulus response to abiotic stimulus tissue development regulation of biosynthetic process negative regulation of biosynthetic process negative regulation of metabolic process positive regulation of metabolic process regulation of catabolic process negative regulation of catabolic process positive regulation of catabolic process cellular process regulation of gene expression regulation of transposition negative regulation of transposition regulation of macromolecule biosynthetic process negative regulation of macromolecule biosynthetic process negative regulation of phosphorus metabolic process regulation of double-strand break repair via homologous recombination positive regulation of macromolecule metabolic process negative regulation of macromolecule metabolic process negative regulation of gene expression positive regulation of organelle organization regulation of cell communication positive regulation of cell communication regulation of cellular carbohydrate metabolic process negative regulation of cellular carbohydrate metabolic process regulation of hormone levels regulation of glucose transmembrane transport negative regulation of glucose transmembrane transport regulation of glucose metabolic process striated muscle tissue development cellular component organization histone modification histone deacetylation regulation of lipid metabolic process regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process protein metabolic process regulation of anatomical structure morphogenesis cellular component assembly regulation of signaling positive regulation of signaling cell differentiation regulation of proteolysis chromatin remodeling at centromere regulation of cellular metabolic process negative regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process negative regulation of cellular biosynthetic process regulation of cellular catabolic process positive regulation of cellular catabolic process chromatin assembly heterochromatin assembly pericentric heterochromatin assembly subtelomeric heterochromatin assembly regulation of protein stability protein destabilization positive regulation of insulin secretion telomere organization regulation of telomere maintenance positive regulation of telomere maintenance regulation of intracellular transport negative regulation of intracellular transport positive regulation of intracellular transport regulation of proteasomal ubiquitin-dependent protein catabolic process positive regulation of proteasomal ubiquitin-dependent protein catabolic process multicellular organismal process developmental process regulation of dna-templated transcription, elongation negative regulation of dna-templated transcription, elongation regulation of localization regulation of protein localization circadian regulation of gene expression regulation of organelle organization regulation of chromosome organization regulation of intracellular protein transport carbohydrate homeostasis cellular response to stress regulation of transcription elongation from rna polymerase ii promoter negative regulation of transcription elongation from rna polymerase ii promoter centromere complex assembly cellular nitrogen compound metabolic process regulation of transmembrane transport negative regulation of transmembrane transport cardiocyte differentiation protein deacylation protein modification process regulation of gene expression, epigenetic regulation of cell population proliferation regulation of protein catabolic process cellular ketone metabolic process ketone biosynthetic process regulation of protein import into nucleus negative regulation of protein import into nucleus regulation of phosphorylation negative regulation of phosphorylation homeostatic process glucose homeostasis muscle cell differentiation regulation of circadian rhythm macromolecule metabolic process regulation of carbohydrate biosynthetic process macromolecule modification regulation of generation of precursor metabolites and energy regulation of carbohydrate catabolic process post-translational protein modification protein-containing complex organization cellular component biogenesis cellular metabolic process primary metabolic process cellular biosynthetic process cellular macromolecule metabolic process small molecule metabolic process small molecule biosynthetic process regulation of cell differentiation positive regulation of cell differentiation regulation of fat cell differentiation positive regulation of fat cell differentiation negative regulation of gluconeogenesis positive regulation of protein catabolic process positive regulation of dna repair regulation of angiogenesis positive regulation of angiogenesis negative regulation of gene expression, epigenetic negative regulation of glycolytic process positive regulation of proteolysis negative regulation of transcription, dna-templated negative regulation of carbohydrate metabolic process negative regulation of nucleobase-containing compound metabolic process positive regulation of nucleobase-containing compound metabolic process negative regulation of phosphate metabolic process negative regulation of nucleotide metabolic process regulation of glucose import negative regulation of glucose import heterocycle metabolic process regulation of nucleocytoplasmic transport negative regulation of nucleocytoplasmic transport positive regulation of nucleocytoplasmic transport regulation of protein export from nucleus positive regulation of protein export from nucleus regulation of hormone secretion positive regulation of hormone secretion regulation of fibroblast proliferation positive regulation of fibroblast proliferation rhythmic process animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process regulation of response to stimulus positive regulation of response to stimulus system development cardiac muscle tissue development anatomical structure development cellular developmental process chemical homeostasis regulation of epithelial cell proliferation positive regulation of epithelial cell proliferation regulation of protein secretion positive regulation of protein secretion regulation of biological process regulation of developmental process regulation of cellular process regulation of insulin secretion response to stimulus regulation of lipid catabolic process regulation of secretion positive regulation of secretion regulation of transport positive regulation of transport negative regulation of transport regulation of dna metabolic process positive regulation of dna metabolic process positive regulation of developmental process regulation of cellular component organization positive regulation of cellular component organization striated muscle cell differentiation regulation of nitrogen compound metabolic process negative regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process positive regulation of protein transport regulation of protein transport negative regulation of protein transport regulation of multicellular organismal process positive regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process regulation of rna metabolic process negative regulation of rna metabolic process chromosome organization protein delipidation cellular response to stimulus cardiac muscle cell differentiation regulation of macromolecule metabolic process regulation of cellular localization muscle tissue development regulation of morphogenesis of a branching structure muscle structure development regulation of proteasomal protein catabolic process regulation of small molecule metabolic process negative regulation of small molecule metabolic process protein-containing complex assembly protein-dna complex assembly biological regulation regulation of biological quality regulation of establishment of protein localization heterochromatin organization histone h3 deacetylation organic substance metabolic process protein-dna complex subunit organization cellular component organization or biogenesis regulation of stem cell proliferation circulatory system development regulation of primary metabolic process regulation of response to stress regulation of cellular response to stress regulation of peptide transport regulation of peptide hormone secretion positive regulation of peptide hormone secretion nucleic acid metabolic process positive regulation of intracellular protein transport negative regulation of intracellular protein transport macromolecule deacylation regulation of cold-induced thermogenesis positive regulation of cold-induced thermogenesis positive regulation of protein localization to chromatin pericentric heterochromatin organization constitutive heterochromatin assembly regulation of protein localization to nucleus negative regulation of protein localization to nucleus regulation of purine nucleotide metabolic process negative regulation of purine nucleotide metabolic process regulation of vasculature development organic cyclic compound metabolic process regulation of transcription factor catabolic process positive regulation of transcription factor catabolic process organonitrogen compound metabolic process organic substance biosynthetic process positive regulation of proteasomal protein catabolic process negative regulation of rna biosynthetic process positive regulation of chondrocyte proliferation regulation of proteolysis involved in protein catabolic process positive regulation of proteolysis involved in protein catabolic process regulation of nucleic acid-templated transcription negative regulation of nucleic acid-templated transcription regulation of secretion by cell positive regulation of secretion by cell regulation of atp metabolic process negative regulation of atp metabolic process negative regulation of protein localization positive regulation of protein localization positive regulation of vasculature development negative regulation of establishment of protein localization positive regulation of establishment of protein localization regulation of morphogenesis of an epithelium positive regulation of morphogenesis of an epithelium regulation of blood vessel branching positive regulation of blood vessel branching regulation of vascular endothelial cell proliferation positive regulation of vascular endothelial cell proliferation regulation of protein localization to chromatin regulation of multicellular organismal development regulation of ubiquitin-dependent protein catabolic process positive regulation of ubiquitin-dependent protein catabolic process positive regulation of stem cell proliferation regulation of stem cell differentiation positive regulation of stem cell differentiation regulation of cellular senescence negative regulation of cellular senescence regulation of double-strand break repair positive regulation of double-strand break repair regulation of response to dna damage stimulus positive regulation of response to dna damage stimulus regulation of rna biosynthetic process positive regulation of chromosome organization nucleotide binding nucleic acid binding dna binding chromatin binding damaged dna binding transcription coregulator activity transcription corepressor activity rna binding catalytic activity nad+ adp-ribosyltransferase activity histone deacetylase activity binding protein binding zinc ion binding transferase activity acyltransferase activity acyltransferase activity, transferring groups other than amino-acyl groups glycosyltransferase activity pentosyltransferase activity hydrolase activity hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides nad-dependent histone deacetylase activity deacetylase activity chromatin dna binding nucleosome binding histone deacetylase activity (h3-k9 specific) protein lysine deacetylase activity histone deacetylase activity (h4-k16 specific) nad-dependent protein deacetylase activity small molecule binding identical protein binding protein homodimerization activity ion binding anion binding cation binding protein-containing complex binding metal ion binding transition metal ion binding nad-dependent histone deacetylase activity (h3-k9 specific) protein dimerization activity nad binding nad+ binding organic cyclic compound binding nad-dependent histone deacetylase activity (h3-k18 specific) lncrna binding nad+-protein-arginine adp-ribosyltransferase activity catalytic activity, acting on a protein transcription regulator activity small molecule sensor activity dna damage sensor activity nad-dependent histone deacetylase activity (h3-k56 specific) nad-dependent protein demyristoylase activity nad-dependent protein depalmitoylase activity nucleoside phosphate binding heterocyclic compound binding torc2 complex binding nad+-protein adp-ribosyltransferase activity chromosome, centromeric region chromosome, telomeric region chromatin heterochromatin intracellular anatomical structure nucleus nucleoplasm chromosome pericentric heterochromatin cytoplasm endoplasmic reticulum endomembrane system membrane-enclosed lumen nuclear lumen site of double-strand break organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen intracellular organelle lumen site of dna damage chromosomal region chromosome, subtelomeric region cellular anatomical entity mixed, incl. pyridine-containing compound metabolic process, and nudix hydrolase domain nicotinate and nicotinamide metabolism, and vitamin b6 metabolism nicotinate and nicotinamide metabolism, and nad kinase nicotinate and nicotinamide metabolism nicotinate and nicotinamide metabolism metabolic pathways thermogenesis central carbon metabolism in cancer signaling by notch signal transduction pre-notch transcription and translation pre-notch expression and processing dna double-strand break repair homology directed repair hdr through homologous recombination (hrr) or single strand annealing (ssa) processing of dna double-strand break ends dna repair srebf and mir33 in cholesterol and lipid homeostasis nad+ metabolism nad+ biosynthetic pathways thermogenesis thyroid hormones production and peripheral downstream signaling effects sars-cov-2 mitochondrial chronic oxidative stress and endothelial dysfunction disease of cellular proliferation cancer disease tissues, cell types and enzyme sources animal cardiovascular system blood respiratory system testicular cancer cell head digestive gland erythroleukemia cell gland heart hematopoietic system blood cancer cell bone marrow cancer cell lymphoid tissue liver lung leukemia cell spleen endocrine gland whole body viscus immune system chromosome, centromeric region chromosome, telomeric region chromatin heterochromatin intracellular nucleus nucleoplasm chromosome pericentric heterochromatin cytoplasm endoplasmic reticulum endomembrane system membrane-enclosed lumen nuclear lumen site of double-strand break organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen intracellular organelle lumen site of dna damage chromosomal region chromosome, subtelomeric region cellular anatomical entity acetylation alternative splicing metal-binding nad nucleus phosphoprotein transferase zinc sir2 family sirtuin family sirtuin family, catalytic core domain dhs-like nad/fad-binding domain superfamily transport ion transport anion transport cellular process organic anion transport monocarboxylic acid transport lactate transport organic acid transport organic hydroxy compound transport ion transmembrane transport lactate transmembrane transport plasma membrane lactate transport carboxylic acid transport localization establishment of localization transmembrane transport organic substance transport anion transmembrane transport organic acid transmembrane transport carboxylic acid transmembrane transport nucleic acid binding rna binding transporter activity organic acid transmembrane transporter activity binding monocarboxylic acid transmembrane transporter activity anion transmembrane transporter activity organic anion transmembrane transporter activity ion transmembrane transporter activity lactate transmembrane transporter activity secondary active transmembrane transporter activity symporter activity active transmembrane transporter activity transmembrane transporter activity carboxylic acid transmembrane transporter activity organic cyclic compound binding heterocyclic compound binding organic hydroxy compound transmembrane transporter activity intracellular anatomical structure nucleus nuclear envelope plasma membrane integral component of plasma membrane basal plasma membrane endomembrane system postsynaptic density membrane integral component of membrane basolateral plasma membrane apical plasma membrane lateral plasma membrane cell junction organelle membrane intrinsic component of membrane intrinsic component of plasma membrane nuclear membrane organelle envelope envelope asymmetric synapse organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle apical part of cell basal part of cell synapse postsynaptic membrane excitatory synapse cell periphery synaptic membrane plasma membrane region parallel fiber to purkinje cell synapse postsynapse postsynaptic density membrane intrinsic component of postsynaptic membrane intrinsic component of postsynaptic specialization membrane neuron to neuron synapse integral component of postsynaptic membrane integral component of postsynaptic specialization membrane integral component of postsynaptic density membrane intrinsic component of postsynaptic density membrane intrinsic component of synaptic membrane postsynaptic specialization postsynaptic specialization membrane integral component of synaptic membrane cellular anatomical entity mixed, incl. transport of inorganic cations/anions and amino acids/oligopeptides, and carbonate dehydratase activity mixed, incl. carbonate dehydratase activity, and proton-coupled monocarboxylate transport carbonate dehydratase activity, and proton-coupled monocarboxylate transport proton-coupled monocarboxylate transport central carbon metabolism in cancer hemostasis the citric acid (tca) cycle and respiratory electron transport metabolism cell surface interactions at the vascular wall basigin interactions transport of small molecules transport of bile salts and organic acids, metal ions and amine compounds slc-mediated transmembrane transport proton-coupled monocarboxylate transport pyruvate metabolism pyruvate metabolism and citric acid (tca) cycle metabolic reprogramming in colon cancer lactate shuttle in glial cells tissues, cell types and enzyme sources animal reproductive system female reproductive system blood brain brain stem central nervous system cerebral hemisphere cerebellum cerebral cortex telencephalon head cerebral lobe forebrain hematopoietic system hippocampus hindbrain metencephalon limbic system temporal lobe nervous system whole body urogenital system intracellular nucleus nuclear envelope plasma membrane basal plasma membrane endomembrane system membrane basolateral plasma membrane apical plasma membrane lateral plasma membrane organelle membrane nuclear membrane organelle envelope envelope organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle apical part of cell basal part of cell cell periphery plasma membrane region cellular anatomical entity anthropometric measurement body weights and measures body mass index hematological measurement hemoglobin measurement renal system measurement protein measurement traffic air pollution measurement environmental exposure measurement serum urea measurement abnormality of the urinary system proteinuria phenotypic abnormality abnormality of the genitourinary system abnormality of head or neck abnormality of the mouth abnormal oral cavity morphology abnormal palate morphology cleft palate oral cleft abnormality of the head abnormality of the face abnormality of metabolism/homeostasis abnormality of urine homeostasis abnormality of the urinary system physiology abnormal urine protein level abnormal oral morphology abnormal urine metabolite level membrane phosphoprotein symport transmembrane transport cell membrane transmembrane helix major facilitator superfamily monocarboxylate transporter major facilitator superfamily major facilitator superfamily domain mfs transporter superfamily system process circulatory system process vascular process in circulatory system amino acid transmembrane transport transport ion transport cation transport anion transport dicarboxylic acid transport amino acid transport glutamine transport cellular process vascular transport glutamine secretion organic anion transport c4-dicarboxylate transport acidic amino acid transport neutral amino acid transport l-amino acid transport l-serine transport organic acid transport viral process cellular component organization viral life cycle cellular component assembly serine transport multicellular organismal process secretion by cell ion transmembrane transport protein-containing complex organization movement in host cellular component biogenesis biological process involved in symbiotic interaction entry into host biological process involved in interspecies interaction between organisms viral entry into host cell secretion carboxylic acid transport localization establishment of localization protein complex oligomerization protein homooligomerization biological process involved in interaction with host transmembrane transport protein-containing complex assembly protein trimerization protein homotrimerization l-aspartate transmembrane transport organic substance transport nitrogen compound transport cellular component organization or biogenesis amino acid import across plasma membrane cation transmembrane transport anion transmembrane transport import into cell import across plasma membrane l-aspartate import across plasma membrane export from cell transport across blood-brain barrier l-alpha-amino acid transmembrane transport l-glutamine import across plasma membrane organic acid transmembrane transport carboxylic acid transmembrane transport virus receptor activity transporter activity dicarboxylic acid transmembrane transporter activity organic acid transmembrane transporter activity binding cation transmembrane transporter activity anion transmembrane transporter activity organic anion transmembrane transporter activity ion transmembrane transporter activity amino acid transmembrane transporter activity acidic amino acid transmembrane transporter activity neutral amino acid transmembrane transporter activity l-amino acid transmembrane transporter activity l-aspartate transmembrane transporter activity l-glutamine transmembrane transporter activity l-serine transmembrane transporter activity secondary active transmembrane transporter activity symporter activity c4-dicarboxylate transmembrane transporter activity active transmembrane transporter activity transmembrane transporter activity serine transmembrane transporter activity signaling receptor activity ion binding cation binding metal ion binding carboxylic acid transmembrane transporter activity molecular transducer activity exogenous protein binding extracellular region extracellular space intracellular anatomical structure cytoplasm plasma membrane integral component of plasma membrane basal plasma membrane membrane integral component of membrane intrinsic component of membrane intrinsic component of plasma membrane cytoplasmic vesicle vesicle melanosome organelle membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle basal part of cell pigment granule extracellular membrane-bounded organelle extracellular exosome cell periphery intracellular vesicle plasma membrane region cellular anatomical entity extracellular vesicle slc-mediated transmembrane transport, and monocarboxylic acid transmembrane transporter activity slc-mediated transmembrane transport, and abc transporters slc-mediated transmembrane transport, and abc-type xenobiotic transporter activity amino acid transport across the plasma membrane, and hexose transmembrane transporter activity amino acid transport across the plasma membrane, and hexose transmembrane transporter activity amino acid transport across the plasma membrane amino acid transport across the plasma membrane amino acid transport across the plasma membrane amino acid transport across the plasma membrane protein digestion and absorption central carbon metabolism in cancer signal transduction signaling by rho gtpases amino acid transport across the plasma membrane transport of small molecules transport of inorganic cations/anions and amino acids/oligopeptides slc-mediated transmembrane transport rho gtpase cycle rac1 gtpase cycle rhoq gtpase cycle rhoh gtpase cycle rhoj gtpase cycle rac3 gtpase cycle signaling by rho gtpases, miro gtpases and rhobtb3 tyrobp causal network in microglia mrna, protein, and metabolite inducation pathway by cyclosporin a metabolic reprogramming in colon cancer ferroptosis amino acid metabolism in triple-negative breast cancer cells metabolic reprogramming in pancreatic cancer metabolic pathways of fibroblasts tissues, cell types and enzyme sources animal alimentary canal reproductive system female reproductive system connective tissue excretory gland gastrointestinal tract gland hematopoietic system blood cancer cell bone marrow cancer cell intestine kidney lymphocytic leukemia cell lymphoid tissue melanoma cell line esophagus urinary tract leukemia cell thorax thymus endocrine gland whole body viscus trunk choriocarcinoma cell urogenital system urinary system supportive connective tissue immune system extracellular region extracellular space intracellular nucleus cytoplasm plasma membrane membrane integral component of membrane rna polymerase complex intrinsic component of membrane rna-directed rna polymerase complex nuclear rna-directed rna polymerase complex cytoplasmic vesicle vesicle protein-containing complex melanosome organelle membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle pigment granule transferase complex, transferring phosphorus-containing groups extracellular membrane-bounded organelle extracellular exosome cell periphery intracellular vesicle cellular anatomical entity catalytic complex extracellular vesicle glutaminase complex transferase complex eye measurement environmental exposure measurement sun exposure measurement time spent outdoors measurement acetylation alternative initiation alternative splicing amino-acid transport glycoprotein membrane metal-binding phosphoprotein receptor symport transmembrane transport sodium host-virus interaction cell membrane transmembrane helix host cell receptor for virus entry sodium:dicarboxylate symporter family sodium:dicarboxylate symporter sodium:dicarboxylate symporter, conserved site sodium:dicarboxylate symporter superfamily reproduction response to hypoxia tissue homeostasis retina homeostasis system process circulatory system process vascular process in circulatory system carbohydrate metabolic process monosaccharide metabolic process organic acid metabolic process vitamin metabolic process water-soluble vitamin metabolic process transport ion transport anion transport lipid transport response to stress response to osmotic stress hyperosmotic response cell communication multicellular organism development nervous system development central nervous system development brain development female pregnancy metabolic process carbohydrate transport hexose transmembrane transport cellular response to starvation response to external stimulus response to mechanical stimulus response to abiotic stimulus response to endogenous stimulus response to hormone cellular process response to extracellular stimulus response to organic substance vascular transport response to organonitrogen compound lipid localization organic anion transport monosaccharide transmembrane transport organic acid transport fatty acid transport long-chain fatty acid transport long-chain fatty acid import across plasma membrane cellular component organization carboxylic acid metabolic process l-ascorbic acid metabolic process telencephalon development pallium development cerebral cortex development reproductive process cellular component assembly forebrain development response to nutrient levels cellular response to extracellular stimulus cellular response to nutrient levels multicellular organismal process developmental process response to insulin macromolecule localization cellular response to stress carbohydrate transmembrane transport ion transmembrane transport vitamin transmembrane transport response to decreased oxygen levels cellular response to glucose starvation response to chemical homeostatic process response to starvation xenobiotic transport response to peptide hormone oxoacid metabolic process protein-containing complex organization cellular component biogenesis cellular metabolic process primary metabolic process small molecule metabolic process long-chain fatty acid import into cell multi-organism reproductive process multi-multicellular organism process photoreceptor cell maintenance glucose import heterocycle metabolic process animal organ development system development anatomical structure development multicellular organismal homeostasis response to stimulus localization vitamin transport establishment of localization cellular response to stimulus transmembrane transport anatomical structure homeostasis head development cellular response to chemical stress protein-containing complex assembly biological regulation regulation of biological quality response to oxygen levels dehydroascorbic acid transport cellular response to chemical stimulus cellular response to abiotic stimulus cellular response to mechanical stimulus cellular response to osmotic stress cellular hyperosmotic response cellular response to external stimulus organic substance transport organic substance metabolic process cellular component organization or biogenesis anion transmembrane transport import into cell carbohydrate import across plasma membrane glucose import across plasma membrane import across plasma membrane cellular response to environmental stimulus hexose import across plasma membrane lipid import into cell transport across blood-brain barrier lactone metabolic process organic cyclic compound metabolic process response to peptide response to nitrogen compound response to oxygen-containing compound fatty acid transmembrane transport organic acid transmembrane transport response to thyroglobulin triiodothyronine glucose transmembrane transport carboxylic acid transmembrane transport transporter activity lipid transporter activity long-chain fatty acid transporter activity glucose transmembrane transporter activity binding protein binding anion transmembrane transporter activity organic anion transmembrane transporter activity ion transmembrane transporter activity carbohydrate transmembrane transporter activity monosaccharide transmembrane transporter activity hexose transmembrane transporter activity enzyme binding kinase binding transmembrane transporter activity dehydroascorbic acid transmembrane transporter activity identical protein binding xenobiotic transmembrane transporter activity protein self-association sugar transmembrane transporter activity d-glucose transmembrane transporter activity vitamin transmembrane transporter activity golgi membrane female germ cell nucleus photoreceptor inner segment female pronucleus extracellular region extracellular space intracellular anatomical structure nucleus cytoplasm golgi apparatus cytosol cytoskeleton plasma membrane integral component of plasma membrane caveola cell-cell junction cell cortex basal plasma membrane endomembrane system intercalated disc actin cytoskeleton membrane integral component of membrane basolateral plasma membrane apical plasma membrane myofibril sarcomere z disc cell junction midbody cortical cytoskeleton cortical actin cytoskeleton organelle membrane intrinsic component of membrane intrinsic component of plasma membrane cytoplasmic vesicle i band vesicle sarcolemma melanosome germ cell nucleus organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle contractile fiber cell-cell contact zone plasma membrane raft pronucleus membrane raft apical part of cell basal part of cell synapse pigment granule extracellular membrane-bounded organelle extracellular exosome anchoring junction cell periphery blood microparticle intracellular vesicle bounding membrane of organelle plasma membrane region presynapse membrane microdomain supramolecular complex supramolecular polymer supramolecular fiber cellular anatomical entity extracellular vesicle carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism glycogen storage disease i, and ribokinase-like hif-1 signaling pathway insulin secretion thyroid hormone signaling pathway adipocytokine signaling pathway glucagon signaling pathway insulin resistance bile secretion human t-cell leukemia virus 1 infection pathways in cancer renal cell carcinoma central carbon metabolism in cancer metabolism integration of energy metabolism disease cellular hexose transport vitamin c (ascorbate) metabolism metabolism of water-soluble vitamins and cofactors metabolism of vitamins and cofactors transport of small molecules regulation of insulin secretion slc-mediated transmembrane transport defective slc2a1 causes glut1 deficiency syndrome 1 (glut1ds1) slc transporter disorders disorders of transmembrane transporters lactose synthesis metabolism of carbohydrates cori cycle hif1a and pparg regulation of glycolysis nuclear receptors meta-pathway nrf2 pathway photodynamic therapy-induced hif-1 survival signaling angiopoietin-like protein 8 regulatory pathway focal adhesion: pi3k-akt-mtor-signaling pathway clear cell renal cell carcinoma pathways hereditary leiomyomatosis and renal cell carcinoma pathway type 2 papillary renal cell carcinoma metabolic reprogramming in colon cancer aerobic glycolysis ketogenesis and ketolysis insulin signaling proximal tubule transport p53 transcriptional gene network nad metabolism in oncogene-induced senescence and mitochondrial dysfunction-associated senescence neuroinflammation and glutamatergic signaling malignant pleural mesothelioma ccl18 signaling pathway glucose metabolism in triple-negative breast cancer cells amino acid metabolism in triple-negative breast cancer cells metabolic reprogramming in pancreatic cancer chronic hyperglycemia impairment of neuron function metabolic pathways of fibroblasts lactate shuttle in glial cells glycolysis and gluconeogenesis sensory system disease monogenic disease electroclinical syndrome childhood electroclinical syndrome early onset absence epilepsy autosomal dominant disease autosomal genetic disease benign neoplasm cell type benign neoplasm organ system benign neoplasm cardiovascular organ benign neoplasm bone benign neoplasm musculoskeletal system benign neoplasm connective tissue benign neoplasm absence epilepsy bone disease physical disorder episodic kinesigenic dyskinesia 1 lens disease capillary disease cardiovascular system disease disease of cellular proliferation musculoskeletal system disease vascular disease epilepsy anemia hemangioma capillary hemangioma central nervous system disease disease movement disease dystonia eye disease hemolytic anemia congenital hemolytic anemia genetic disease connective tissue disease disease of anatomical entity normocytic anemia hematopoietic system disease cataract nervous system disease orbital disease brain disease tissues, cell types and enzyme sources animal alimentary canal male reproductive gland reproductive system male reproductive system female reproductive system brain embryonic structure cervical carcinoma cell respiratory system cartilage central nervous system female reproductive gland head organism form digestive gland connective tissue erythroleukemia cell fetus gland gonad blood cancer cell bone marrow cancer cell lymphocytic leukemia cell liver melanoma cell line placenta mouth leukemia cell testis trachea nervous system skeletal system endocrine gland whole body viscus chronic lymphocytic leukemia cell articular cartilage joint urogenital system internal male genital organ internal female genital organ extracellular region extracellular space intracellular cytoplasm cytoskeleton plasma membrane integral component of plasma membrane cell cortex basal plasma membrane actin cytoskeleton membrane integral component of membrane basolateral plasma membrane apical plasma membrane midbody cortical cytoskeleton cortical actin cytoskeleton organelle membrane intrinsic component of membrane intrinsic component of plasma membrane vesicle protein-containing complex organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle apical part of cell basal part of cell extracellular membrane-bounded organelle extracellular exosome cell periphery blood microparticle bounding membrane of organelle plasma membrane region cellular anatomical entity extracellular vesicle glucose transporter complex transporter complex erythrocyte count erythrocyte indices leukocyte count hematological measurement hemoglobin measurement mean corpuscular volume mean corpuscular hemoglobin concentration complete blood cell count lymphocyte count protein measurement plasminogen activator inhibitor 1 measurement neutrophil count calcium measurement erythrocyte measurement monocyte count red blood cell distribution width infectious disease biomarker granulocyte count myeloid white cell count neutrophil percentage of leukocytes lymphocyte percentage of leukocytes reticulocyte measurement mean reticulocyte volume abnormality of body height functional abnormality of the bladder abnormality of the bladder urinary incontinence abnormality of the urinary system phenotypic abnormality abnormality of the genitourinary system abnormality of head or neck abnormality of the mouth wide mouth abnormal lip morphology abnormal oral cavity morphology abnormal upper lip morphology abnormal lower lip morphology thick lower lip vermilion thin upper lip vermilion thin vermilion border abnormality of the head hydrocephalus abnormality of skull size microcephaly progressive microcephaly macrocephaly abnormality of the face abnormality of the philtrum broad philtrum abnormality of the forehead long philtrum abnormality of the outer ear abnormality of the nose abnormal pinna morphology macrotia abnormal nasal bridge morphology abnormal morphology of the nasal alae wide nasal bridge anteverted nares abnormality of the neck short neck broad neck abnormality of the eye strabismus abnormality of eye movement abnormality of vision abnormal lens morphology cataract abnormal conjugate eye movement microphthalmia abnormality of the ear nystagmus diplopia abnormality of the nervous system behavioral abnormality depression aggressive behavior autistic behavior motor stereotypy impaired social interactions short attention span irritability anxiety delayed speech and language development hyperactivity abnormal thorax morphology abnormality of the skeletal system abnormality of the vertebral column abnormal skull morphology abnormality of the skin jaundice cyanosis pallor dermatological manifestations of systemic disorders brachydactyly syndactyly intellectual disability seizure ataxia hypotonia lethargy intellectual disability, mild spasticity spastic paraplegia dysarthria global developmental delay choreoathetosis hemiparesis hypertonia gait disturbance confusion encephalopathy torsion dystonia abnormal nervous system electrophysiology eeg with irregular generalized spike and wave complexes specific learning disability dystonia communicating hydrocephalus myoclonus tremor absent speech hyperreflexia abnormality of the liver cholestasis hepatosplenomegaly abnormal abdomen morphology growth abnormality failure to thrive growth delay abnormality of the integument abnormal hair morphology abnormality of the cardiovascular system abnormality of the spleen splenomegaly abnormality of blood and blood-forming tissues abnormal erythrocyte morphology hemolytic anemia anemia reticulocytosis abnormality of metabolism/homeostasis abnormal facial shape morphological central nervous system abnormality abnormality of the abdominal organs cerebral atrophy abnormal cerebral morphology lower limb spasticity morphological abnormality of the pyramidal tract bilateral tonic-clonic seizure abnormality of extrapyramidal motor function chorea migraine abnormality of the respiratory system apnea abnormal cerebral ventricle morphology generalized non-motor (absence) seizure generalized myoclonic seizure episodic ataxia status epilepticus hyperkalemia neurological speech impairment apraxia generalized-onset seizure hepatomegaly paroxysmal dystonia frontal balding athetosis headache unsteady gait lack of peer relationships eeg abnormality sleep disturbance febrile seizure (within the age range of 3 months to 6 years) eeg with polyspike wave complexes abnormal head movements language impairment upper motor neuron dysfunction abnormal cerebral white matter morphology cerebral calcification abnormal cerebral cortex morphology inability to walk abnormality of the vasculature abnormality of the immune system recurrent infections abnormal pattern of respiration abnormal respiratory system physiology abnormality of limb bone morphology central apnea hyperventilation hyperbilirubinemia conjugated hyperbilirubinemia abnormal cerebrospinal fluid morphology aplasia/hypoplasia involving the central nervous system abnormality of the musculature abnormal blood ion concentration visceromegaly abnormality of the cervical spine paresthesia paralysis somatic sensory dysfunction babinski sign muscle stiffness increased intracellular sodium abnormal muscle tone abnormality of the biliary system involuntary movements abnormal reticulocyte morphology short stature abnormality of body weight decreased body weight abnormal anterior eye segment morphology abnormal circulating carboxylic acid concentration abnormal circulating nitrogen compound concentration reduced consciousness/confusion hemiplegia/hemiparesis stomatocytosis poikilocytosis abnormal nasal morphology abnormal nostril morphology secondary microcephaly spontaneous hemolytic crises hyperactive deep tendon reflexes abnormal aggressive, impulsive or violent behavior jerky head movements attention deficit hyperactivity disorder generalized hyperreflexia paroxysmal dyskinesia intracerebral periventricular calcifications abnormal pyramidal sign extrapyramidal dyskinesia focal-onset seizure aplasia/hypoplasia of the cerebrum atrophy/degeneration affecting the central nervous system atrophy/degeneration affecting the cerebrum prematurely aged appearance paroxysmal involuntary eye movements uncontrolled eye movements aplasia/hypoplasia affecting the eye abnormal axial skeleton morphology thick nasal alae short thorax dyslexia weakness due to upper motor neuron dysfunction paraplegia paraplegia/paraparesis abnormality of the diencephalon abnormality of thalamus morphology abnormal hair pattern ectopic calcification impaired visuospatial constructive cognition atonic seizure eeg with generalized slow activity eeg with spike-wave complexes (2.5-3.5 hz) eeg with spike-wave complexes zonular cataract abnormal blood cation concentration abnormal blood monovalent inorganic cation concentration abnormality of the lower urinary tract abnormal external nose morphology abnormality of immune system physiology abnormal cerebral subcortex morphology abnormal circulating dicarboxylic acid concentration abnormal cellular physiology abnormal blood potassium concentration abnormality of skin morphology abnormality of skin adnexa morphology dialeptic seizure typical absence seizure myoclonic absence seizure generalized myoclonic-atonic seizure simple febrile seizure interictal epileptiform activity eeg with focal epileptiform discharges eeg with focal spike waves eeg with generalized epileptiform discharges eeg with abnormally slow frequencies prominent forehead abnormal digit morphology abnormality of mouth size abnormality of upper lip vermillion generalized abnormality of skin acquired abnormal hair pattern abnormal central motor function abnormality of coordination abnormality of higher mental function abnormality of binocular vision abnormal muscle physiology abnormal skeletal morphology abnormal appendicular skeleton morphology anemia due to reduced life span of red cells short digit hypoglycorrhachia paroxysmal lethargy abnormal eye morphology abnormal eye physiology aplasia/hypoplasia of the cerebral white matter cerebral white matter hypoplasia abnormal social behavior abnormality of brain morphology brain atrophy abnormal myelination delayed myelination thick vermilion border abnormal involuntary eye movements abnormal nervous system physiology abnormal nervous system morphology abnormal thalamic size decreased thalamic volume neurodevelopmental delay neurodevelopmental abnormality motor seizure abnormality of the digestive system constitutional symptom bilateral tonic-clonic seizure with generalized onset abnormal cellular phenotype interictal eeg abnormality abnormal spleen morphology abnormal csf metabolite concentration abnormal neck morphology abnormality of central nervous system electrophysiology punding impairment of activities of daily living impaired continence impairment in personality functioning low self esteem abnormal ear morphology abnormal oral morphology abnormal reflex abnormal superficial reflex abnormal csf glucose concentration unusual infection abnormal circulating metabolite concentration generalized-onset motor seizure myoclonic seizure infection-related seizure seizure precipitated by febrile infection abnormality of the musculoskeletal system non-motor seizure abnormal circulating bilirubin concentration abnormal exteroceptive sensation abnormal temporal lobe morphology appendicular spasticity abnormality of limbs abnormality of limb bone increased head circumference decreased head circumference limb myoclonus abnormality of movement cognitive impairment abnormal forebrain morphology dyskinesia premature skin wrinkling abnormality of the lymphatic system abnormal emotion/affect behavior abnormal fear/anxiety-related behavior abnormality of globe size epileptic encephalopathy abnormal liver morphology brain imaging abnormality acetylation glycoprotein hereditary hemolytic anemia membrane phosphoprotein sugar transport transmembrane transport epilepsy cataract cell membrane dystonia transmembrane helix major facilitator superfamily glucose transporter, type 1 (glut1) sugar/inositol transporter major facilitator, sugar transporter-like sugar transporter, conserved site major facilitator superfamily domain mfs transporter superfamily glucose transporter glut carbohydrate metabolic process transport ion transport anion transport metabolic process carbohydrate transport hexose transmembrane transport cellular process organic anion transport monosaccharide transmembrane transport fructose transmembrane transport galactose transmembrane transport carbohydrate transmembrane transport ion transmembrane transport vitamin transmembrane transport primary metabolic process glucose import localization vitamin transport establishment of localization transmembrane transport dehydroascorbic acid transport organic substance transport organic substance metabolic process anion transmembrane transport glucose transmembrane transport transporter activity fructose transmembrane transporter activity galactose transmembrane transporter activity glucose transmembrane transporter activity anion transmembrane transporter activity organic anion transmembrane transporter activity ion transmembrane transporter activity carbohydrate transmembrane transporter activity monosaccharide transmembrane transporter activity hexose transmembrane transporter activity transmembrane transporter activity dehydroascorbic acid transmembrane transporter activity sugar transmembrane transporter activity d-glucose transmembrane transporter activity vitamin transmembrane transporter activity intracellular anatomical structure cytoplasm plasma membrane integral component of plasma membrane brush border cell-cell junction membrane integral component of membrane apical plasma membrane cell junction intrinsic component of membrane intrinsic component of plasma membrane apical part of cell anchoring junction cell periphery plasma membrane region cluster of actin-based cell projections cellular anatomical entity carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism glycogen storage disease i, and ribokinase-like insulin secretion prolactin signaling pathway glucagon signaling pathway type ii diabetes mellitus insulin resistance maturity onset diabetes of the young carbohydrate digestion and absorption central carbon metabolism in cancer developmental biology metabolism integration of energy metabolism disease regulation of beta-cell development cellular hexose transport regulation of gene expression in beta cells transport of small molecules regulation of insulin secretion slc-mediated transmembrane transport defective slc2a2 causes fanconi-bickel syndrome (fbs) slc transporter disorders disorders of transmembrane transporters intestinal absorption digestion and absorption intestinal hexose absorption type ii diabetes mellitus cori cycle nuclear receptors meta-pathway nrf2 pathway focal adhesion: pi3k-akt-mtor-signaling pathway proximal tubule transport disorders of galactose metabolism  disorders of fructose metabolism glycolysis and gluconeogenesis disease of metabolism carbohydrate metabolic disorder disease glucose metabolism disease hyperglycemia genetic disease inherited metabolic disorder tissues, cell types and enzyme sources animal blood digestive gland excretory gland gland peripheral blood hematopoietic system endocrine pancreas kidney liver pancreatic beta cell pancreas pancreatic islet urinary tract endocrine gland whole body viscus urogenital system urinary system pancreatic islet cell plasma membrane brush border membrane protein-containing complex cell periphery cluster of actin-based cell projections cellular anatomical entity glucose transporter complex transporter complex anthropometric measurement body weights and measures body height body mass index c-reactive protein measurement fasting blood glucose measurement insulin measurement glucose measurement homa-b hematological measurement hemoglobin measurement lipid measurement triglyceride measurement serum gamma-glutamyl transferase measurement hba1c measurement glycoprotein measurement liver enzyme measurement hormone measurement serum alanine aminotransferase measurement protein measurement inflammatory biomarker measurement lipid or lipoprotein measurement diabetes mellitus biomarker abnormality of the kidney abnormality of the urinary system nephropathy phenotypic abnormality abnormality of the genitourinary system nephrocalcinosis renal tubular dysfunction abnormality of head or neck abnormality of the head abnormality of the face doll-like facies abnormality of the nervous system abnormality of the endocrine system diabetes mellitus abnormality of the skeletal system osteopenia abnormal diaphysis morphology abnormality of the skin abnormality of subcutaneous fat tissue global developmental delay abnormality of the liver hepatic failure hepatocellular carcinoma decreased liver function abnormal abdomen morphology growth abnormality failure to thrive growth delay abnormality of the integument abnormality of metabolism/homeostasis acidosis metabolic acidosis hypoglycemia renal tubular acidosis glucose intolerance abnormal facial shape abnormality of the abdominal organs malabsorption hypophosphatemia hypercalciuria hypertriglyceridemia azotemia hepatomegaly abnormal intestine morphology neoplasm rickets osteomalacia abnormality of limb bone morphology neoplasm of the liver hypokalemia generalized aminoaciduria elevated hepatic transaminase hyperglycemia glycosuria hyperlipidemia hyperphosphaturia abnormality of urine homeostasis abnormal blood ion concentration abnormal circulating lipid concentration elevated circulating alkaline phosphatase concentration fasting hypoglycemia abdominal distention visceromegaly abnormal bone structure aminoaciduria hypouricemia abnormality of connective tissue reduced subcutaneous adipose tissue abnormality of body weight decreased body weight abnormality of bone mineral density reduced bone mineral density abnormality of acid-base homeostasis abnormal circulating nitrogen compound concentration abnormality of alkaline phosphatase level poor appetite impairment of galactose metabolism galactose intolerance bowing of the long bones increased hepatic glycogen content neoplasm of the gastrointestinal tract abnormal adipose tissue morphology abnormal blood cation concentration abnormal blood monovalent inorganic cation concentration abnormal circulating nucleobase concentration abnormality of the upper urinary tract abnormal glucose homeostasis abnormal blood glucose concentration abnormality of the gastrointestinal tract abnormal blood potassium concentration abnormality of skin morphology abnormality of the urinary system physiology abnormality of urine calcium concentration abnormal long bone morphology generalized abnormality of skin abdominal symptom neoplasm by anatomical site abnormal skeletal morphology abnormal appendicular skeleton morphology abnormal bone ossification postprandial hyperglycemia abnormal renal morphology abnormal renal physiology abnormal homeostasis abnormal enzyme/coenzyme activity chronic acidosis abnormal urinary electrolyte concentration abnormal urine phosphate concentration abnormal nervous system physiology morphological abnormality of the gastrointestinal tract neurodevelopmental delay neurodevelopmental abnormality bone fracture abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology abnormality of hepatobiliary system physiology elevated circulating aspartate aminotransferase concentration elevated circulating alanine aminotransferase concentration abnormal circulating metabolite concentration abnormal metabolism abnormality of the musculoskeletal system abnormal urine metabolite level decreased adipose tissue abnormality of limbs abnormality of limb bone impaired glucose tolerance abnormal blood phosphate concentration abnormal liver morphology abnormal hepatic glycogen storage alternative splicing glycoprotein membrane phosphoprotein sugar transport transmembrane transport cell membrane transmembrane helix major facilitator superfamily glucose transporter, type 2 (glut2) sugar/inositol transporter major facilitator, sugar transporter-like sugar transporter, conserved site major facilitator superfamily domain mfs transporter superfamily glucose transporter glut response to acid chemical regulation of cytokine production positive regulation of cytokine production liver development response to molecule of bacterial origin regulation of immune system process positive regulation of immune system process regulation of immune effector process positive regulation of immune effector process regulation of production of molecular mediator of immune response positive regulation of production of molecular mediator of immune response regulation of cytokine production involved in immune response positive regulation of cytokine production involved in immune response system process circulatory system process vascular process in circulatory system amino acid transmembrane transport transport ion transport cation transport anion transport amino acid transport response to stress cell communication multicellular organism development positive regulation of cell population proliferation cellular response to starvation response to external stimulus response to biotic stimulus response to bacterium response to abiotic stimulus anatomical structure morphogenesis response to endogenous stimulus animal organ morphogenesis negative regulation of metabolic process positive regulation of metabolic process regulation of catabolic process negative regulation of catabolic process hormone transport cellular process response to extracellular stimulus response to organic substance vascular transport response to organonitrogen compound regulation of gene expression regulation of autophagy negative regulation of autophagy positive regulation of macromolecule metabolic process negative regulation of macromolecule metabolic process positive regulation of gene expression negative regulation of gene expression negative regulation of muscle cell apoptotic process regulation of muscle cell apoptotic process positive regulation of cell development regulation of hormone levels regulation of cell death regulation of amino acid import across plasma membrane regulation of gliogenesis positive regulation of gliogenesis response to activity response to muscle activity organic anion transport aromatic amino acid transport branched-chain amino acid transport neutral amino acid transport l-amino acid transport isoleucine transport leucine transport phenylalanine transport tryptophan transport valine transport organic acid transport regulation of metabolic process regeneration animal organ regeneration regulation of cellular metabolic process negative regulation of cellular metabolic process regulation of cellular catabolic process negative regulation of cellular catabolic process response to nutrient levels cellular response to extracellular stimulus cellular response to nutrient levels response to lipopolysaccharide multicellular organismal process developmental process regulation of interferon-gamma production regulation of interleukin-17 production regulation of interleukin-4 production positive regulation of interferon-gamma production positive regulation of interleukin-17 production positive regulation of interleukin-4 production regulation of localization regulation of organic acid transport positive regulation of organic acid transport cellular response to stress response to lipid ion transmembrane transport regulation of smooth muscle cell apoptotic process negative regulation of smooth muscle cell apoptotic process regulation of transmembrane transport positive regulation of transmembrane transport response to increased oxygen levels regulation of cell population proliferation cellular response to glucose starvation response to chemical odontogenesis response to starvation xenobiotic transport regulation of apoptotic process negative regulation of apoptotic process regulation of programmed cell death negative regulation of programmed cell death response to amino acid response to external biotic stimulus biological process involved in interspecies interaction between organisms regulation of cell differentiation positive regulation of cell differentiation carboxylic acid transport animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process system development gland development anatomical structure development regulation of neurogenesis positive regulation of neurogenesis regulation of biological process regulation of developmental process regulation of cellular process response to stimulus regulation of transport positive regulation of transport positive regulation of developmental process localization establishment of localization regulation of multicellular organismal process positive regulation of multicellular organismal process response to other organism cellular response to stimulus regulation of amine transport positive regulation of amine transport regulation of amino acid transport positive regulation of amino acid transport regulation of nervous system development positive regulation of nervous system development transmembrane transport response to hyperoxia regulation of glial cell proliferation positive regulation of glial cell proliferation regulation of macromolecule metabolic process regulation of cell development negative regulation of cell death hepaticobiliary system development biological regulation regulation of biological quality thyroid hormone transport response to oxygen levels cellular response to chemical stimulus cellular response to biotic stimulus cellular response to molecule of bacterial origin cellular response to lipopolysaccharide cellular response to acid chemical cellular response to amino acid stimulus cellular response to organic substance cellular response to lipid cellular response to organonitrogen compound cellular response to endogenous stimulus cellular response to external stimulus organic substance transport nitrogen compound transport amino acid import across plasma membrane liver regeneration cation transmembrane transport anion transmembrane transport import into cell leucine import across plasma membrane import across plasma membrane transport across blood-brain barrier response to nitrogen compound cellular response to nitrogen compound response to oxygen-containing compound cellular response to oxygen-containing compound l-alpha-amino acid transmembrane transport response to l-arginine cellular response to l-arginine regulation of amino acid transmembrane transport l-leucine import across plasma membrane organic acid transmembrane transport l-tryptophan transmembrane transport carboxylic acid transmembrane transport regulation of vascular associated smooth muscle cell apoptotic process negative regulation of vascular associated smooth muscle cell apoptotic process regulation of leucine import across plasma membrane positive regulation of leucine import across plasma membrane regulation of multicellular organismal development antigen binding transporter activity organic acid transmembrane transporter activity binding cation transmembrane transporter activity anion transmembrane transporter activity organic anion transmembrane transporter activity ion transmembrane transporter activity amino acid transmembrane transporter activity aromatic amino acid transmembrane transporter activity neutral amino acid transmembrane transporter activity l-amino acid transmembrane transporter activity l-leucine transmembrane transporter activity l-tryptophan transmembrane transporter activity secondary active transmembrane transporter activity antiporter activity thyroid hormone transmembrane transporter activity branched-chain amino acid transmembrane transporter activity active transmembrane transporter activity transmembrane transporter activity amide binding peptide binding peptide antigen binding carboxylic acid transmembrane transporter activity lytic vacuole extracellular region extracellular space intracellular anatomical structure cytoplasm lysosome lysosomal membrane vacuole vacuolar membrane cytosol plasma membrane microvillus external side of plasma membrane basal plasma membrane cell surface membrane integral component of membrane basolateral plasma membrane apical plasma membrane organelle membrane intrinsic component of membrane cell projection membrane microvillus membrane vesicle protein-containing complex cell projection organelle membrane-bounded organelle intracellular organelle extracellular organelle intracellular membrane-bounded organelle apical part of cell basal part of cell extracellular membrane-bounded organelle extracellular exosome cell periphery side of membrane bounding membrane of organelle plasma membrane region external side of apical plasma membrane membrane protein complex plasma membrane protein complex lytic vacuole membrane actin-based cell projection cellular anatomical entity plasma membrane bounded cell projection extracellular vesicle amino acid transport complex slc-mediated transmembrane transport, and monocarboxylic acid transmembrane transporter activity slc-mediated transmembrane transport, and abc transporters slc-mediated transmembrane transport, and abc-type xenobiotic transporter activity amino acid transport across the plasma membrane, and hexose transmembrane transporter activity amino acid transport across the plasma membrane, and hexose transmembrane transporter activity amino acid transport across the plasma membrane amino acid transport across the plasma membrane amino acid transport across the plasma membrane amino acid transport across the plasma membrane mtor signaling pathway central carbon metabolism in cancer hemostasis metabolism cell surface interactions at the vascular wall basigin interactions amino acid transport across the plasma membrane transport of small molecules transport of inorganic cations/anions and amino acids/oligopeptides slc-mediated transmembrane transport tryptophan catabolism metabolism of amino acids and derivatives aryl hydrocarbon receptor pathway nuclear receptors meta-pathway mrna, protein, and metabolite inducation pathway by cyclosporin a malignant pleural mesothelioma metabolic reprogramming in pancreatic cancer tissues, cell types and enzyme sources animal alimentary canal reproductive system female reproductive system blood embryonic structure female reproductive gland organism form digestive gland connective tissue fetus gastrointestinal tract gland peripheral blood hematopoietic system hematopoietic cell blood cancer cell bone marrow cancer cell integument intestine leukocyte lymphoid tissue lymphocyte lymph mononuclear cell ovary peripheral blood mononuclear cell placenta lymphoid cell skin leukemia cell endocrine gland whole body viscus urogenital system internal female genital organ supportive connective tissue peripheral blood lymphocyte immune system intracellular cytoplasm cytosol plasma membrane microvillus external side of plasma membrane cell surface membrane integral component of membrane apical plasma membrane intrinsic component of membrane cell projection membrane microvillus membrane vesicle protein-containing complex cell projection organelle membrane-bounded organelle apical part of cell cell periphery side of membrane plasma membrane region external side of apical plasma membrane membrane protein complex plasma membrane protein complex actin-based cell projection cellular anatomical entity plasma membrane bounded cell projection amino acid transport complex disease head and neck disorder nervous system disease retinopathy eye disease erythrocyte indices platelet count hematocrit hematological measurement hemoglobin measurement mean corpuscular volume mean corpuscular hemoglobin mean corpuscular hemoglobin concentration complete blood cell count metabolite measurement protein measurement platelet measurement erythrocyte measurement amino acid measurement red blood cell distribution width serum metabolite measurement blood metabolite measurement platelet crit kynurenine measurement chronic central serous retinopathy disease of orbital region chronic disease central serous retinopathy reticulocyte measurement mean reticulocyte volume disorder of visual system amino-acid transport lysosome membrane phosphoprotein transmembrane transport ubl conjugation cell membrane disulfide bond isopeptide bond transmembrane helix amino acid permease amino acid/polyamine transporter i l-type amino acid transporter autophagy of mitochondrion mitophagy response to hypoxia epithelial cell development columnar/cuboidal epithelial cell differentiation columnar/cuboidal epithelial cell development regulation of response to biotic stimulus response to ischemia carbohydrate metabolic process monosaccharide metabolic process fructose 2,6-bisphosphate metabolic process glucose metabolic process glucose catabolic process organic acid metabolic process lactate metabolic process pyruvate metabolic process generation of precursor metabolites and energy glycolytic process regulation of carbohydrate metabolic process regulation of glycolytic process fermentation nucleobase-containing compound metabolic process regulation of nucleotide metabolic process purine nucleotide metabolic process nucleoside diphosphate phosphorylation regulation of dna repair cellular aromatic compound metabolic process nadh metabolic process nucleoside phosphate metabolic process atp generation from adp phosphorus metabolic process phosphate-containing compound metabolic process nitrogen compound metabolic process autophagy apoptotic process response to stress cellular response to dna damage stimulus organelle organization mitochondrion organization multicellular organism development metabolic process cell death catabolic process nucleotide metabolic process nucleoside diphosphate metabolic process purine nucleoside diphosphate metabolic process nucleoside triphosphate metabolic process purine nucleoside triphosphate metabolic process purine ribonucleotide metabolic process purine ribonucleoside diphosphate metabolic process ribonucleoside diphosphate metabolic process ribonucleoside triphosphate metabolic process purine ribonucleoside triphosphate metabolic process ribonucleotide metabolic process response to radiation response to xenobiotic stimulus response to abiotic stimulus tissue development negative regulation of metabolic process positive regulation of metabolic process regulation of catabolic process negative regulation of catabolic process cellular process response to inorganic substance response to metal ion response to ionizing radiation response to gamma radiation regulation of autophagy negative regulation of autophagy positive regulation of phosphorus metabolic process negative regulation of phosphorus metabolic process positive regulation of macromolecule metabolic process negative regulation of organelle organization muscle cell apoptotic process striated muscle cell apoptotic process cardiac muscle cell apoptotic process regulation of muscle cell apoptotic process positive regulation of muscle cell apoptotic process regulation of striated muscle cell apoptotic process positive regulation of striated muscle cell apoptotic process regulation of cardiac muscle cell apoptotic process positive regulation of cardiac muscle cell apoptotic process regulation of cellular carbohydrate metabolic process negative regulation of cellular carbohydrate metabolic process regulation of mitochondrion organization negative regulation of mitochondrion organization regulation of glucose metabolic process regulation of cell death positive regulation of cell death programmed cell death energy derivation by oxidation of organic compounds cellular component organization carbohydrate catabolic process macroautophagy regulation of macroautophagy negative regulation of macroautophagy phosphorylation regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process regulation of metabolic process hexose metabolic process hexose catabolic process organophosphate metabolic process glucose catabolic process to lactate glycolytic fermentation glucose catabolic process to lactate via pyruvate nad metabolic process ribose phosphate metabolic process carboxylic acid metabolic process cellular component disassembly cell differentiation fructose 1,6-bisphosphate metabolic process epithelial cell differentiation regulation of cellular metabolic process negative regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular catabolic process negative regulation of cellular catabolic process response to cobalt ion multicellular organismal process developmental process monocarboxylic acid metabolic process regulation of organelle organization cellular response to stress positive regulation of kinase activity regulation of cellular amide metabolic process cellular nitrogen compound metabolic process tube development response to decreased oxygen levels cellular response to decreased oxygen levels response to chemical regulation of phosphorylation negative regulation of phosphorylation positive regulation of phosphorylation regulation of apoptotic process positive regulation of apoptotic process regulation of programmed cell death positive regulation of programmed cell death negative regulation of programmed cell death positive regulation of catalytic activity oxoacid metabolic process regulation of pentose-phosphate shunt regulation of fermentation regulation of generation of precursor metabolites and energy regulation of carbohydrate catabolic process regulation of cellular carbohydrate catabolic process regulation of kinase activity positive regulation of molecular function cellular metabolic process primary metabolic process cellular catabolic process small molecule metabolic process small molecule catabolic process positive regulation of dna repair negative regulation of glycolytic process negative regulation of carbohydrate metabolic process negative regulation of nucleobase-containing compound metabolic process positive regulation of nucleobase-containing compound metabolic process negative regulation of phosphate metabolic process positive regulation of phosphate metabolic process negative regulation of nucleotide metabolic process adp metabolic process atp metabolic process monosaccharide catabolic process heterocycle metabolic process nucleotide phosphorylation cell development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process digestive tract development regulation of response to stimulus positive regulation of response to stimulus system development anatomical structure development cellular developmental process regulation of biological process regulation of catalytic activity regulation of cellular process response to stimulus regulation of dna metabolic process positive regulation of dna metabolic process regulation of cellular component organization negative regulation of cellular component organization regulation of nitrogen compound metabolic process negative regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process regulation of transferase activity positive regulation of transferase activity cellular response to stimulus nucleobase-containing small molecule metabolic process digestive system development regulation of macromolecule metabolic process epithelium development negative regulation of cell death intestinal epithelial cell differentiation intestinal epithelial cell development mitochondrion disassembly selective autophagy process utilizing autophagic mechanism regulation of small molecule metabolic process negative regulation of small molecule metabolic process biological regulation regulation of molecular function response to oxygen levels cellular response to chemical stimulus cellular response to inorganic substance cellular response to metal ion cellular response to cobalt ion cellular response to oxygen levels cellular response to hypoxia organic substance metabolic process cellular component organization or biogenesis purine-containing compound metabolic process reactive oxygen species metabolic process regulation of primary metabolic process regulation of response to stress regulation of cellular response to stress regulation of purine nucleotide metabolic process negative regulation of purine nucleotide metabolic process negative regulation of fermentation carbohydrate derivative metabolic process regulation of neuron death negative regulation of neuron death organic cyclic compound metabolic process regulation of mitophagy negative regulation of mitophagy organonitrogen compound metabolic process organic substance catabolic process organic hydroxy compound metabolic process regulation of nadp metabolic process regulation of response to cell cycle checkpoint signaling regulation of response to dna integrity checkpoint signaling regulation of response to dna damage checkpoint signaling regulation of nad metabolic process negative regulation of nad metabolic process organelle disassembly regulation of autophagy of mitochondrion negative regulation of autophagy of mitochondrion regulation of hexokinase activity positive regulation of hexokinase activity regulation of atp metabolic process negative regulation of atp metabolic process regulation of glucose catabolic process to lactate via pyruvate negative regulation of glucose catabolic process to lactate via pyruvate regulation of reactive oxygen species metabolic process negative regulation of reactive oxygen species metabolic process regulation of response to dna damage stimulus positive regulation of response to dna damage stimulus catalytic activity bisphosphoglycerate 2-phosphatase activity fructose-2,6-bisphosphate 2-phosphatase activity hydrolase activity hydrolase activity, acting on ester bonds phosphatase activity carbohydrate phosphatase activity bisphosphoglycerate phosphatase activity phosphoric ester hydrolase activity sugar-phosphatase activity intracellular anatomical structure nucleus cytoplasm mitochondrion mitochondrial envelope mitochondrial outer membrane cytosol membrane outer membrane organelle membrane mitochondrial membrane organelle envelope organelle outer membrane envelope organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle bounding membrane of organelle cellular anatomical entity carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism carbon metabolism, and pyruvate metabolism glycolysis, and pentose-phosphate shunt glycolysis, and sugar-phosphatase activity fructose and mannose metabolism fructose 2,6-bisphosphate metabolic process, and glycogen storage disease vii fructose and mannose metabolism metabolic pathways central carbon metabolism in cancer generic transcription pathway transcriptional regulation by tp53 tp53 regulates metabolic genes rna polymerase ii transcription gene expression (transcription) metabolic reprogramming in colon cancer p53 transcriptional gene network tissues, cell types and enzyme sources animal embryonic structure organism form embryo whole body intracellular nucleus cytoplasm mitochondrion mitochondrial envelope mitochondrial outer membrane cytosol membrane outer membrane organelle membrane mitochondrial membrane organelle envelope organelle outer membrane envelope organelle membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle bounding membrane of organelle cellular anatomical entity blood phosphate measurement acetylation apoptosis autophagy hydrolase mitochondrion nucleus cytoplasm phosphoglycerate/bisphosphoglycerate mutase, active site histidine phosphatase superfamily, clade-1 histidine phosphatase superfamily phosphoglycerate mutase family mitochondrial genome maintenance cell cycle checkpoint signaling dna damage checkpoint signaling negative regulation of transcription by rna polymerase ii mitotic cell cycle autophagy of mitochondrion mitophagy skeletal system development regulation of cell growth response to hypoxia in utero embryonic development somitogenesis cell activation release of cytochrome c from mitochondria regulation of protein phosphorylation positive regulation of protein phosphorylation hematopoietic progenitor cell differentiation immune effector process cell activation involved in immune response lymphocyte activation involved in immune response t cell activation involved in immune response t cell proliferation involved in immune response b cell lineage commitment t cell lineage commitment leukocyte activation involved in immune response immune system process immune system development leukocyte differentiation response to ischemia regionalization heart morphogenesis cardiac chamber development cardiac chamber morphogenesis cardiac septum development carbohydrate metabolic process monosaccharide metabolic process glucose metabolic process glucose catabolic process organic acid metabolic process lactate metabolic process generation of precursor metabolites and energy regulation of carbohydrate metabolic process fermentation nucleobase-containing compound metabolic process dna metabolic process regulation of dna replication dna repair nucleotide-excision repair double-strand break repair chromatin organization transcription, dna-templated regulation of transcription, dna-templated regulation of transcription by rna polymerase ii protein import into nucleus cellular aromatic compound metabolic process nadh metabolic process nitrogen compound metabolic process transport mitochondrial transport intracellular protein transport nucleocytoplasmic transport autophagy apoptotic process response to stress defense response immune response response to osmotic stress cellular response to dna damage stimulus dna damage response, signal transduction by p53 class mediator resulting in cell cycle arrest dna damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator response to oxidative stress er overload response er-nucleus signaling pathway organelle organization mitochondrion organization mitochondrial membrane organization cell cycle mitotic cell cycle checkpoint signaling cell communication signal transduction cell surface receptor signaling pathway enzyme-linked receptor protein signaling pathway transmembrane receptor protein serine/threonine kinase signaling pathway transforming growth factor beta receptor signaling pathway small gtpase mediated signal transduction ras protein signal transduction multicellular organism development regulation of mitotic cell cycle gastrulation pattern specification process nervous system development neuroblast proliferation negative regulation of neuroblast proliferation central nervous system development brain development heart development behavior rhythmic behavior circadian rhythm protein localization metabolic process negative regulation of dna replication cell death cell population proliferation negative regulation of cell population proliferation determination of adult lifespan intrinsic apoptotic signaling pathway in response to dna damage apoptotic mitochondrial changes catabolic process biosynthetic process macromolecule biosynthetic process cellular response to starvation mrna transcription rrna transcription response to radiation response to xenobiotic stimulus response to uv response to light stimulus response to external stimulus response to biotic stimulus response to abiotic stimulus photoperiodism entrainment of circadian clock response to salt stress anatomical structure morphogenesis response to endogenous stimulus embryo development embryo development ending in birth or egg hatching animal organ morphogenesis tissue development regulation of biosynthetic process negative regulation of biosynthetic process positive regulation of biosynthetic process negative regulation of metabolic process positive regulation of metabolic process regulation of catabolic process negative regulation of catabolic process anterior/posterior pattern specification regulation of signal transduction positive regulation of signal transduction negative regulation of signal transduction cellular process response to extracellular stimulus response to organic substance response to x-ray response to ionizing radiation response to uv-c response to organonitrogen compound response to gamma radiation gene expression regulation of gene expression regulation of autophagy negative regulation of autophagy regulation of macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process negative regulation of macromolecule biosynthetic process positive regulation of phosphorus metabolic process negative regulation of phosphorus metabolic process regulation of cell cycle process positive regulation of macromolecule metabolic process negative regulation of macromolecule metabolic process positive regulation of gene expression negative regulation of gene expression positive regulation of organelle organization negative regulation of organelle organization regulation of cell communication positive regulation of cell communication negative regulation of cell communication muscle cell apoptotic process striated muscle cell apoptotic process cardiac muscle cell apoptotic process regulation of muscle cell apoptotic process positive regulation of muscle cell apoptotic process regulation of striated muscle cell apoptotic process positive regulation of striated muscle cell apoptotic process regulation of cardiac muscle cell apoptotic process positive regulation of cardiac muscle cell apoptotic process regulation of cellular carbohydrate metabolic process negative regulation of cell development regulation of mitochondrion organization positive regulation of mitochondrion organization negative regulation of mitochondrion organization regulation of glucose metabolic process regulation of necrotic cell death positive regulation of necrotic cell death regulation of cell death positive regulation of cell death negative regulation of cell cycle process programmed cell death glial cell proliferation regulation of gliogenesis negative regulation of gliogenesis protein transport energy derivation by oxidation of organic compounds viral process cellular component organization carbohydrate catabolic process rna metabolic process mrna metabolic process rrna metabolic process macroautophagy regulation of macroautophagy negative regulation of macroautophagy regulation of transforming growth factor beta receptor signaling pathway heterocycle biosynthetic process regulation of nucleobase-containing compound metabolic process regulation of phosphate metabolic process cytokine-mediated signaling pathway regulation of metabolic process hexose metabolic process hexose catabolic process aromatic compound biosynthetic process glucose catabolic process to lactate glycolytic fermentation glucose catabolic process to lactate via pyruvate nad metabolic process carboxylic acid metabolic process cerebellum development neurogenesis metencephalon development cell cycle process cellular component disassembly cellular component assembly regulation of signaling signaling positive regulation of signaling negative regulation of signaling hemopoiesis lymphocyte differentiation cell differentiation regulation of proteolysis b cell differentiation t cell differentiation negative regulation of cell growth dna damage response, signal transduction by p53 class mediator negative regulation of transforming growth factor beta receptor signaling pathway hindbrain development regulation of histone modification positive regulation of histone modification regulation of histone deacetylation positive regulation of histone deacetylation regulation of cellular metabolic process negative regulation of cellular metabolic process positive regulation of cellular metabolic process regulation of cellular biosynthetic process negative regulation of cellular biosynthetic process positive regulation of cellular biosynthetic process regulation of cellular catabolic process negative regulation of cellular catabolic process positive regulation of protein-containing complex assembly regulation of protein modification process positive regulation of protein modification process chromatin assembly dna integrity checkpoint signaling mitotic g1 dna damage checkpoint signaling regulation of protein stability response to nutrient levels cellular response to extracellular stimulus cellular response to nutrient levels mitochondrial dna metabolic process multicellular organismal process developmental process rna biosynthetic process negative regulation of atp-dependent activity monocarboxylic acid metabolic process mononuclear cell proliferation macromolecule localization regulation of organelle organization t cell differentiation in thymus tumor necrosis factor-mediated signaling pathway protein localization to organelle cellular response to stress response to cytokine regulation of tissue remodeling regulation of cellular amide metabolic process response to interferon-gamma glial cell apoptotic process protein localization to nucleus cellular response to oxidative stress response to tumor necrosis factor cellular nitrogen compound metabolic process cellular response to uv nucleobase-containing compound biosynthetic process ncrna metabolic process response to endoplasmic reticulum stress multicellular organism growth segmentation intracellular signal transduction positive regulation of mitochondrial membrane permeability positive regulation of transcription from rna polymerase ii promoter in response to stress response to decreased oxygen levels cellular response to decreased oxygen levels growth regulation of growth gliogenesis t cell proliferation t cell activation b cell activation regulation of cell population proliferation cellular response to glucose starvation response to chemical regulation of phosphorylation positive regulation of phosphorylation response to starvation regulation of circadian rhythm signal transduction in response to dna damage intrinsic apoptotic signaling pathway in response to dna damage by p53 class mediator dna damage response, signal transduction resulting in transcription regulation of apoptotic process chordate embryonic development positive regulation of apoptotic process negative regulation of apoptotic process regulation of programmed cell death positive regulation of programmed cell death negative regulation of programmed cell death negative regulation of catalytic activity entrainment of circadian clock by photoperiod macromolecule metabolic process response to external biotic stimulus regulation of protein-containing complex assembly oxoacid metabolic process regulation of pentose-phosphate shunt regulation of atp-dependent activity regulation of fermentation regulation of generation of precursor metabolites and energy regulation of carbohydrate catabolic process regulation of cellular carbohydrate catabolic process mitochondrial dna repair regulation of dna damage response, signal transduction by p53 class mediator regulation of neuron apoptotic process positive regulation of neuron apoptotic process regulation of transcription from rna polymerase ii promoter in response to stress regulation of dna-templated transcription in response to stress protein-containing complex organization cellular component biogenesis regulation of cellular component biogenesis positive regulation of cellular component biogenesis negative regulation of molecular function cellular metabolic process primary metabolic process cellular catabolic process cellular biosynthetic process cellular macromolecule metabolic process cellular nitrogen compound biosynthetic process small molecule metabolic process small molecule catabolic process biological process involved in interspecies interaction between organisms mitotic dna damage checkpoint signaling mitotic dna integrity checkpoint signaling mitotic g1/s transition checkpoint signaling innate immune response cell fate commitment establishment of protein localization leukocyte activation regulation of cell differentiation negative regulation of cell differentiation negative regulation of cell cycle negative regulation of proteolysis negative regulation of transcription, dna-templated positive regulation of transcription, dna-templated regulation of rna polymerase ii transcription preinitiation complex assembly positive regulation of rna polymerase ii transcription preinitiation complex assembly negative regulation of carbohydrate metabolic process negative regulation of growth negative regulation of mitotic cell cycle negative regulation of nucleobase-containing compound metabolic process positive regulation of nucleobase-containing compound metabolic process negative regulation of phosphate metabolic process positive regulation of phosphate metabolic process positive regulation of transcription by rna polymerase ii monosaccharide catabolic process heterocycle metabolic process lymphocyte activation lymphocyte proliferation response to antibiotic regulation of mitochondrial membrane permeability intracellular transport fibroblast proliferation regulation of fibroblast proliferation negative regulation of fibroblast proliferation rhythmic process circadian behavior animal organ development positive regulation of biological process negative regulation of biological process positive regulation of cellular process negative regulation of cellular process hematopoietic or lymphoid organ development bone marrow development embryonic organ development regulation of response to stimulus positive regulation of response to stimulus negative regulation of response to stimulus developmental growth embryonic morphogenesis anatomical structure formation involved in morphogenesis generation of neurons system development anatomical structure development stem cell differentiation cellular developmental process regulation of peptidyl-tyrosine phosphorylation positive regulation of peptidyl-tyrosine phosphorylation regulation of neurogenesis negative regulation of neurogenesis regulation of biological process regulation of catalytic activity regulation of developmental process regulation of cellular process protein stabilization response to stimulus regulation of dna metabolic process negative regulation of dna metabolic process negative regulation of developmental process regulation of helicase activity negative regulation of helicase activity regulation of cellular component organization negative regulation of cellular component organization positive regulation of cellular component organization nuclear transport import into nucleus regulation of nitrogen compound metabolic process negative regulation of nitrogen compound metabolic process positive regulation of nitrogen compound metabolic process regulation of phosphorus metabolic process localization establishment of localization regulation of multicellular organismal process negative regulation of multicellular organismal process regulation of protein metabolic process positive regulation of protein metabolic process negative regulation of protein metabolic process regulation of rna metabolic process negative regulation of rna metabolic process positive regulation of rna metabolic process protein complex oligomerization protein tetramerization chromosome organization regulation of transferase activity negative regulation of transferase activity neuron apoptotic process cellular localization establishment of localization in cell response to other organism cellular response to stimulus regulation of cell cycle regulation of nervous system development negative regulation of nervous system development regulation of telomerase activity negative regulation of telomerase activity regulation of post-transcriptional gene silencing positive regulation of post-transcriptional gene silencing negative regulation of post-transcriptional gene silencing hematopoietic stem cell differentiation regulation of glial cell proliferation negative regulation of glial cell proliferation regulation of macromolecule metabolic process regulation of transcription initiation from rna polymerase ii promoter positive regulation of transcription initiation from rna polymerase ii promoter regulation of cell development head development interferon-gamma-mediated signaling pathway bone development cardiac septum morphogenesis epithelium development negative regulation of cell death regulation of mirna-mediated gene silencing negative regulation of mirna-mediated gene silencing regulation of gene silencing by rna negative regulation of gene silencing by rna membrane organization somite development neural precursor cell proliferation regulation of transcription from rna polymerase ii promoter in response to hypoxia positive regulation of transcription from rna polymerase ii promoter in response to hypoxia mitochondrion disassembly selective autophagy process utilizing autophagic mechanism regulation of small molecule metabolic process negative regulation of small molecule metabolic process regulation of programmed necrotic cell death positive regulation of programmed necrotic cell death cellular response to chemical stress protein-containing complex assembly biological regulation regulation of biological quality regulation of molecular function intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress lymphocyte apoptotic process regulation of lymphocyte apoptotic process positive regulation of lymphocyte apoptotic process t cell apoptotic process regulation of t cell apoptotic process positive regulation of t cell apoptotic process thymocyte apoptotic process regulation of thymocyte apoptotic process positive regulation of thymocyte apoptotic process necrotic cell death necroptotic process response to oxygen levels leukocyte proliferation cellular macromolecule localization response to growth factor cellular response to chemical stimulus regulation of production of small rna involved in gene silencing by rna neuron death cellular response to abiotic stimulus cellular response to biotic stimulus cellular response to antibiotic cellular response to organic substance cellular response to cytokine stimulus cellular response to interferon-gamma cellular response to tumor necrosis factor cellular response to growth factor stimulus cellular response to organonitrogen compound cellular response to oxygen levels cellular response to hypoxia cellular response to xenobiotic stimulus cellular response to radiation cellular response to ionizing radiation cellular response to gamma radiation cellular response to light stimulus cellular response to uv-c cellular response to endogenous stimulus cellular response to external stimulus response to transforming growth factor beta cellular response to transforming growth factor beta stimulus organic substance transport organic substance metabolic process nitrogen compound transport cellular component organization or biogenesis leukocyte apoptotic process stem cell proliferation regulation of stem cell proliferation signal transduction by p53 class mediator intrinsic apoptotic signaling pathway by p53 class mediator circulatory system development reactive oxygen species metabolic process establishment of protein localization to organelle response to actinomycin d cellular response to actinomycin d regulation of primary metabolic process regulation of response to stress regulation of cellular response to stress regulation of transmembrane receptor protein serine/threonine kinase signaling pathway negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway regulation of release of cytochrome c from mitochondria positive regulation of release of cytochrome c from mitochondria regulation of cellular response to growth factor stimulus nucleic acid metabolic process regulation of protein deacetylation positive regulation of protein deacetylation cellular senescence replicative senescence stress-induced premature senescence oxidative stress-induced premature senescence regulation of membrane permeability apoptotic signaling pathway intrinsic apoptotic signaling pathway oligodendrocyte apoptotic process programmed necrotic cell death nucleic acid-templated transcription defense response to other organism ncrna transcription cellular response to environmental stimulus regulation of execution phase of apoptosis positive regulation of execution phase of apoptosis regulation of post-transcriptional gene silencing by rna negative regulation of post-transcriptional gene silencing by rna positive regulation of post-transcriptional gene silencing by rna negative regulation of fermentation regulation of neuron death positive regulation of neuron death organic cyclic compound metabolic process organic cyclic compound biosynthetic process positive regulation of transcription from rna polymerase ii promoter involved in cellular response to chemical stimulus regulation of mitophagy negative regulation of mitophagy organic substance catabolic process organic substance biosynthetic process organic hydroxy compound metabolic process response to peptide cellular response to peptide response to nitrogen compound cellular response to nitrogen compound response to oxygen-containing compound cellular response to oxygen-containing compound regulation of signal transduction by p53 class mediator regulation of cell cycle phase transition negative regulation of cell cycle phase transition regulation of mitotic cell cycle phase transition negative regulation of mitotic cell cycle phase transition regulation of nadp metabolic process regulation of mitochondrial membrane permeability involved in apoptotic process regulation of intrinsic apoptotic signaling pathway by p53 class mediator regulation of intracellular signal transduction positive regulation of intracellular signal transduction negative regulation of rna biosynthetic process positive regulation of rna biosynthetic process regulation of nad metabolic process negative regulation of nad metabolic process regulation of neuroblast proliferation regulation of cell cycle g2/m phase transition regulation of cell cycle g1/s phase transition negative regulation of cell cycle g1/s phase transition regulation of mirna transcription positive regulation of mirna transcription organelle disassembly mitotic cell cycle process mononuclear cell differentiation regulation of autophagy of mitochondrion negative regulation of autophagy of mitochondrion regulation of g1 to g0 transition negative regulation of g1 to g0 transition regulation of nucleic acid-templated transcription negative regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription regulation of mirna maturation negative regulation of mirna maturation positive regulation of mirna maturation regulation of cellular response to transforming growth factor beta stimulus regulation of glucose catabolic process to lactate via pyruvate negative regulation of glucose catabolic process to lactate via pyruvate positive regulation of membrane permeability negative regulation of pentose-phosphate shunt intrinsic apoptotic signaling pathway in response to hypoxia regulation of transcription from rna polymerase ii promoter in response to dna damage positive regulation of transcription from rna polymerase ii promoter in response to endoplasmic reticulum stress regulation of multicellular organismal development regulation of g1/s transition of mitotic cell cycle regulation of leukocyte apoptotic process positive regulation of leukocyte apoptotic process negative regulation of g1/s transition of mitotic cell cycle regulation of dna-templated transcription, initiation positive regulation of dna-templated transcription, initiation regulation of neural precursor cell proliferation negative regulation of neural precursor cell proliferation regulation of fibroblast apoptotic process regulation of dna biosynthetic process negative regulation of dna biosynthetic process regulation of reactive oxygen species metabolic process negative regulation of reactive oxygen species metabolic process positive regulation of reactive oxygen species metabolic process regulation of mirna metabolic process positive regulation of mirna metabolic process positive regulation of mirna-mediated gene silencing negative regulation of stem cell proliferation regulation of cellular senescence positive regulation of cellular senescence regulation of response to dna damage stimulus regulation of rna biosynthetic process regulation of apoptotic signaling pathway positive regulation of apoptotic signaling pathway regulation of intrinsic apoptotic signaling pathway positive regulation of intrinsic apoptotic signaling pathway transcription cis-regulatory region binding rna polymerase ii transcription regulatory region sequence-specific dna binding rna polymerase ii cis-regulatory region sequence-specific dna binding dna-binding transcription factor activity, rna polymerase ii-specific cis-regulatory region sequence-specific dna binding core promoter sequence-specific dna binding transcription regulatory region nucleic acid binding rna polymerase ii general transcription initiation factor binding tfiid-class transcription factor complex binding basal transcription machinery binding basal rna polymerase ii transcription machinery binding dna-binding transcription activator activity dna-binding transcription repressor activity dna-binding transcription repressor activity, rna polymerase ii-specific dna-binding transcription activator activity, rna polymerase ii-specific protease binding p53 binding nucleic acid binding dna binding chromatin binding double-stranded dna binding single-stranded dna binding dna-binding transcription factor activity rna binding mrna binding mrna 3-utr binding signaling receptor binding binding copper ion binding protein binding transcription factor binding zinc ion binding enzyme binding kinase binding protein kinase binding phosphatase binding protein phosphatase binding protein domain specific binding enzyme regulator activity receptor tyrosine kinase binding ubiquitin protein ligase binding histone deacetylase regulator activity histone acetyltransferase binding atp-dependent dna/dna annealing activity identical protein binding histone deacetylase binding ion binding cation binding sequence-specific dna binding protein self-association ubiquitin-like protein ligase binding protein-containing complex binding metal ion binding transition metal ion binding protein heterodimerization activity protein dimerization activity protein n-terminus binding chaperone binding protein phosphatase 2a binding rna polymerase ii-specific dna-binding transcription factor binding organic cyclic compound binding mdm2/mdm4 family protein binding disordered domain specific binding molecular function regulator activity transcription regulator activity general transcription initiation factor binding dna-binding transcription factor binding atp-dependent activity annealing activity heterocyclic compound binding protein tyrosine kinase binding dna/dna annealing activity sequence-specific double-stranded dna binding promoter-specific chromatin binding chromatin intracellular anatomical structure nucleus nucleoplasm replication fork transcription regulator complex chromosome nucleolus cytoplasm mitochondrion mitochondrial matrix endoplasmic reticulum centrosome microtubule organizing center cytosol cytoskeleton endomembrane system microtubule cytoskeleton membrane integral component of membrane nuclear matrix nuclear body pml body transcription repressor complex intrinsic component of membrane membrane-enclosed lumen nuclear lumen protein-containing complex nuclear periphery site of double-strand break germ cell nucleus organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen intracellular organelle lumen site of dna damage cellular anatomical entity mixed, incl. g1 phase, and g0 and early g1 mixed, incl. p53 dna-binding domain, and swib/mdm2 domain mixed, incl. p53 dna-binding domain, and swib/mdm2 domain swib/mdm2 domain, and fermentation endocrine resistance platinum drug resistance mapk signaling pathway sphingolipid signaling pathway cell cycle p53 signaling pathway mitophagy - animal pi3k-akt signaling pathway apoptosis longevity regulating pathway ferroptosis cellular senescence wnt signaling pathway neurotrophin signaling pathway thyroid hormone signaling pathway parkinson disease amyotrophic lateral sclerosis huntington disease shigellosis hepatitis c hepatitis b measles human cytomegalovirus infection human papillomavirus infection human t-cell leukemia virus 1 infection kaposi sarcoma-associated herpesvirus infection herpes simplex virus 1 infection epstein-barr virus infection pathways in cancer transcriptional misregulation in cancer viral carcinogenesis proteoglycans in cancer micrornas in cancer colorectal cancer pancreatic cancer endometrial cancer glioma prostate cancer thyroid cancer basal cell carcinoma melanoma bladder cancer chronic myeloid leukemia small cell lung cancer non-small cell lung cancer breast cancer hepatocellular carcinoma gastric cancer central carbon metabolism in cancer fluid shear stress and atherosclerosis apoptosis hemostasis intrinsic pathway for apoptosis activation of noxa and translocation to mitochondria activation of bh3-only proteins pip3 activates akt signaling cytokine signaling in immune system activation of puma and translocation to mitochondria signaling by notch signal transduction cell cycle disease toll like receptor 4 (tlr4) cascade myd88:mal(tirap) cascade initiated on plasma membrane myd88-independent tlr4 cascade toll like receptor 9 (tlr9) cascade toll like receptor 10 (tlr10) cascade toll like receptor 3 (tlr3) cascade toll like receptor 5 (tlr5) cascade toll like receptor tlr1:tlr2 cascade toll like receptor 7/8 (tlr7/8) cascade toll like receptor tlr6:tlr2 cascade innate immune system immune system toll-like receptor cascades toll like receptor 2 (tlr2) cascade pre-notch transcription and translation pre-notch expression and processing generic transcription pathway cellular responses to stress oxidative stress induced senescence cellular senescence formation of senescence-associated heterochromatin foci (sahf) oncogene induced senescence dna damage/telomere stress induced senescence sumoylation sumo e3 ligases sumoylate target proteins sumoylation of transcription factors autodegradation of the e3 ubiquitin ligase cop1 transcriptional regulation by tp53 chaperonin-mediated protein folding association of tric/cct with target proteins during biosynthesis protein folding metabolism of proteins tak1-dependent ikk and nf-kappa-b activation interleukin-1 family signaling signaling by interleukins mitotic g2-g2/m phases regulated necrosis programmed cell death pyroptosis tp53 regulates metabolic genes regulation of tp53 activity tp53 regulates transcription of cell death genes deubiquitination ub-specific processing proteases ovarian tumor domain proteases dna double-strand break repair recruitment and atm-mediated phosphorylation of repair and signaling proteins at dna double strand breaks dna double strand break response post-translational protein modification interleukin-4 and interleukin-13 signaling tp53 regulates transcription of cell cycle genes tp53 regulates transcription of dna repair genes tp53 regulates transcription of genes involved in cytochrome c release tp53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain tp53 regulates transcription of caspase activators and caspases tp53 regulates transcription of death receptors and ligands tp53 regulates transcription of genes involved in g2 cell cycle arrest tp53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain tp53 regulates transcription of genes involved in g1 cell cycle arrest regulation of tp53 expression regulation of tp53 activity through phosphorylation regulation of tp53 degradation regulation of tp53 activity through acetylation regulation of tp53 activity through association with co-factors regulation of tp53 activity through methylation regulation of tp53 expression and degradation pten regulation pi5p regulates tp53 acetylation g2/m transition cell cycle, mitotic g2/m dna damage checkpoint g2/m checkpoints stabilization of p53 transcriptional activation of p53 responsive genes p53-dependent g1 dna damage response p53-dependent g1/s dna damage checkpoint g1/s dna damage checkpoints cell cycle checkpoints transcriptional  activation of  cell cycle inhibitor p21 rna polymerase ii transcription dna repair gene expression (transcription) the role of gtse1 in g2/m progression after g2 checkpoint transcriptional regulation by ventx transcriptional regulation by runx3 runx3 regulates cdkn1a transcription regulation of pten gene transcription cellular responses to stimuli intracellular signaling by second messengers interleukin-1 signaling trif(ticam1)-mediated tlr4 signaling diseases of programmed cell death loss of function of tp53 in cancer due to loss of tetramerization ability loss of function of tp53 in cancer defective intrinsic pathway for apoptosis traf6 mediated induction of nfkb and map kinases upon tlr7/8 or 9 activation myd88 dependent cascade initiated on endosome regulation of nf-kappa b signaling myd88 cascade initiated on plasma membrane factors involved in megakaryocyte development and platelet production amp-activated protein kinase signaling mirna regulation of dna damage response mirnas involved in dna damage response fluoropyrimidine activity tp53 network folate metabolism apoptosis modulation and signaling cell cycle integrated cancer pathway metastatic brain tumor glioblastoma signaling pathways androgen receptor network in prostate cancer gastric cancer network 2 oncostatin m signaling pathway spinal cord injury retinoblastoma gene in cancer amyotrophic lateral sclerosis (als) atm signaling pathway apoptosis mammary gland development pathway - involution (stage 4 of 4) bladder cancer copper homeostasis rac1/pak1/p38/mmp2 pathway circadian rhythm genes photodynamic therapy-induced ap-1 survival signaling photodynamic therapy-induced hif-1 survival signaling hepatitis c and hepatocellular carcinoma pathways affected in adenoid cystic carcinoma tgf-beta signaling pathway lncrna-mediated mechanisms of therapeutic resistance mapk signaling pathway dna ir-double strand breaks and cellular response via atm mirna regulation of prostate cancer signaling pathways mirna regulation of p53 pathway in prostate cancer wnt signaling pathway and pluripotency prader-willi and angelman syndrome dna ir-damage and cellular response via atr endometrial cancer pi3k-akt signaling pathway caloric restriction and aging hereditary leiomyomatosis and renal cell carcinoma pathway chromosomal and microsatellite instability in colorectal cancer  epithelial to mesenchymal transition in colorectal cancer non-small cell lung cancer breast cancer pathway pancreatic adenocarcinoma pathway ultraconserved region 339 modulation of tumor suppressor micrornas in cancer ferroptosis effect of progerin on genes involved in hutchinson-gilford progeria syndrome microrna network associated with chronic lymphocytic leukemia g1 to s cell cycle control measles virus infection 22q11.2 copy number variation syndrome small cell lung cancer head and neck squamous cell carcinoma melanoma thyroid hormones production and peripheral downstream signaling effects netrin-unc5b signaling pathway il-18 signaling pathway unfolded protein response 16p11.2 proximal deletion syndrome pentose phosphate pathway in senescent cells kynurenine pathway and links to cell senescence nad metabolism in oncogene-induced senescence and mitochondrial dysfunction-associated senescence glycolysis in senescence tca cycle in senescence burn wound healing malignant pleural mesothelioma t-cell activation sars-cov-2 lipid metabolism in senescent cells dyrk1a metabolic reprogramming in pancreatic cancer 2q37 copy number variation syndrome ckap4 signaling pathway map erbb signaling pathway dna damage response dna damage response (only atm dependent) disease by infectious agent sensory system disease lower respiratory tract disease monogenic disease respiratory system cancer respiratory system benign neoplasm reproductive organ benign neoplasm organ system cancer cell type cancer autosomal dominant disease autosomal recessive disease autosomal genetic disease cerebellar ataxia colorectal adenocarcinoma oral squamous cell carcinoma ovarian serous carcinoma autosomal recessive cerebellar ataxia hereditary ataxia lymphoma non-hodgkin lymphoma pre-malignant neoplasm benign neoplasm lymphatic system cancer immune system cancer cell type benign neoplasm organ system benign neoplasm female reproductive organ benign neoplasm uterine benign neoplasm musculoskeletal system cancer brain glioma sensory system cancer thoracic disease pharynx cancer integumentary system cancer gallbladder disease bone disease colorectal carcinoma hepatobiliary system cancer malignant adenoma bone sarcoma intestinal cancer stomach cancer ovarian disease urinary bladder cancer esophageal carcinoma sarcoma obsolete papillomavirus infectious disease peripheral nervous system neoplasm head and neck cancer female reproductive organ cancer leukemia ataxia telangiectasia neurodegenerative disease brain cancer uterine fibroid lung cancer endometrial cancer disease of cellular proliferation reproductive system disease colon carcinoma mixed cell type cancer head and neck carcinoma respiratory system disease integumentary system disease breast cancer cancer musculoskeletal system disease endocrine gland cancer squamous cell carcinoma pancreatic cancer tumor of exocrine pancreas urinary system disease bone cancer melanoma reproductive organ cancer connective tissue cancer malignant ovarian surface epithelial-stromal neoplasm ovary epithelial cancer nephroblastoma ocular cancer colon cancer syndrome cervix disease gonadal disease female reproductive system disease colon adenocarcinoma ovarian cancer basal cell carcinoma hematologic cancer larynx cancer pancreas disease laryngeal carcinoma papilloma autonomic nervous system neoplasm kidney cancer papillary serous adenocarcinoma transitional cell carcinoma cerebellar disease endocrine system disease endometrial carcinoma endometriosis cervix carcinoma immune system disease adenocarcinoma breast ductal carcinoma invasive ductal carcinoma li-fraumeni syndrome carcinoma glioblastoma multiforme astrocytoma malignant glioma nervous system cancer cystadenocarcinoma papillary adenocarcinoma serous cystadenocarcinoma hepatobiliary disease gastrointestinal system cancer gallbladder cancer central nervous system disease osteosarcoma uterine disease skin carcinoma breast carcinoma breast disease pancreatic ductal adenocarcinoma liver cancer ovarian cystadenocarcinoma central nervous system cancer uterine cancer bladder disease lung benign neoplasm skin disease ovary adenocarcinoma gastric adenocarcinoma cervical squamous cell carcinoma esophagus squamous cell carcinoma lung carcinoma lung squamous cell carcinoma lung non-small cell carcinoma lung adenocarcinoma adrenocortical carcinoma adrenal cortex disease adrenal gland cancer urinary system cancer disease ovarian carcinoma bladder urothelial carcinoma bladder carcinoma mouth disease pancreatic adenocarcinoma liver disease bile duct disease skin cancer carcinosarcoma cervical cancer bile duct cancer biliary tract cancer retinal cancer infratentorial cancer bile duct adenocarcinoma bile duct carcinoma pancreatic carcinoma cholangiocarcinoma gallbladder carcinoma esophageal cancer thoracic cancer intestinal disease colonic disease lung adenoma stomach carcinoma head and neck squamous cell carcinoma kidney disease eye disease large intestine cancer retinal disease peripheral nervous system disease ovarian serous cystadenocarcinoma endometrial serous adenocarcinoma malignant cystadenoma esophageal disease genetic disease connective tissue disease adenoma adrenal cortex cancer hepatocellular carcinoma liver carcinoma disease of anatomical entity b-cell lymphoma hematopoietic system disease lymphatic system disease stomach disease retinoblastoma neuroblastoma gastrointestinal system disease retinal cell cancer laryngeal disease lung disease oropharynx cancer oral cavity cancer nervous system disease in situ carcinoma actinic keratosis skin melanoma colorectal cancer nasopharynx carcinoma viral infectious disease brain disease uterine corpus cancer adrenal gland disease nasopharyngeal disease upper respiratory tract disease biliary tract disease tissues, cell types and enzyme sources intestinal cell line a-549 cell sw-480 cell animal alimentary canal male reproductive gland reproductive system male reproductive system female reproductive system blood mcf-7 cell astrocytoma cell astrocytoma cell line brain lung fibroblast cell line adenocarcinoma cell line embryonic structure bg-1 cell ht-29 cell colonic cell line central nervous system female reproductive gland brain cell line colon head organism form carcinoma cell line lung cell line breast cancer cell line bone cell line embryo bone cancer cell line dld-1 cell epidermis osteosarcoma cell line epithelium connective tissue excretory gland fibroblast fibroblast cell line wi-38 cell gastrointestinal tract gland glia glioma cell lung cancer cell hela cell hematopoietic system hepatoma cell line blood cancer cell hep-g2 cell integument intestine lovo cell embryonic cell line kidney brain cancer cell line large intestine glioma cell line acute lymphoblastic leukemia cell lymphocytic leukemia cell lymphoid tissue lung cancer cell line lymphoblastoid cell line intestinal epithelium colonic cancer cell line ovary cancer cell line ovcar-3 cell mda-mb-231 cell breast cell line melanoma cell mucosa basal cell nih-3t3 cell saos-2 cell hep-3b cell ovary ovary cell line prostate gland cell line prostate cancer cell line pharynx mouth hct-116 cell epithelial cell line prostate gland cancer cell imr-90 cell fetal cell line urinary tract skin leukemia cell spinal cord skin cancer cell lncap cell du-145 cell uterine endometrium uterus epidermal cell widr cell nervous system endocrine gland whole body viscus rectal cell line glioblastoma cell line rectal cancer cell line pronephros t-98g cell colorectum colorectal cell line colorectal cancer cell colorectal cancer cell line skin fibroblast cell line ovary adenocarcinoma cell line rko cell breast adenocarcinoma cell line colonic adenocarcinoma cell line colorectal adenocarcinoma cell line u2-os cell embryonic fibroblast cell line cervical cell line cervical cancer cell line c-33a cell squamous cell carcinoma cell line u-87mg cell squamous epithelium u-373mg cell hct-15 cell large cell lung cancer cell line nci-h460 cell siha cell cervical squamous cell carcinoma cell line foreskin fibroblast cell line vas efferens non-small cell lung cancer cell line mef cell glial cell urogenital system urinary system internal male genital organ internal female genital organ caski cell m cell ovary epithelium lymphoblastic leukemia cell tk-6 cell bj cell non-small cell lung adenocarcinoma cell line cancer stem cell ovarian surface epithelium stratum basale embryonic fibroblast oropharynx cervical adenocarcinoma cell line immune system head and neck cancer cell glioblastoma multiforme cell line solid cancer cell chromatin intracellular nucleus nucleoplasm chromosome nucleolus cytoplasm mitochondrion centrosome microtubule organizing center cytosol cytoskeleton dna topoisomerase type ii (double strand cut, atp-hydrolyzing) complex beta-galactosidase complex microtubule cytoskeleton nuclear matrix nuclear body pml body membrane-enclosed lumen nuclear lumen protein-containing complex nuclear periphery tor complex organelle membrane-bounded organelle non-membrane-bounded organelle intracellular organelle intracellular membrane-bounded organelle intracellular non-membrane-bounded organelle organelle lumen pcna complex dna polymerase processivity factor complex intracellular organelle lumen nf-kappab complex bcl-2 family protein complex bax complex cellular anatomical entity dna gyrase complex enzyme activator complex catalytic complex phosphatase complex phosphatidylinositol phosphate phosphatase complex pten phosphatase complex survivin complex age astrocytoma carcinoma cardiovascular disease central nervous system cancer disease glioblastoma multiforme neoplasm nervous system disease skin disease temporal measurement sign or symptom pain skin neoplasm vascular disease cardiovascular measurement anthropometric measurement vital signs erythrocyte count erythrocyte indices leukocyte count body weights and measures blood pressure body weight birth weight glucose measurement hematological measurement hemoglobin measurement bone measurement bone fracture related measurement mean corpuscular volume mean corpuscular hemoglobin mean corpuscular hemoglobin concentration lipid measurement triglyceride measurement hba1c measurement genomic measurement glycoprotein measurement serum non-albumin protein measurement total cholesterol measurement liver enzyme measurement complete blood cell count low density lipoprotein cholesterol measurement apolipoprotein b measurement nevus count sex hormone-binding globulin measurement hormone measurement lipoprotein measurement aspartate aminotransferase measurement protein measurement eosinophil count age at onset testosterone measurement appendicular lean mass lean body mass erythrocyte measurement monocyte count lipid or lipoprotein measurement cardiovascular disease biomarker measurement glioma pulse pressure measurement diastolic blood pressure diabetes mellitus biomarker epithelial neoplasm nervous system cancer mosaic loss of chromosome y measurement blood protein measurement granulocyte count myeloid white cell count monocyte percentage of leukocytes skin carcinoma non-melanoma skin carcinoma central nervous system disease hemorrhoid keratinocyte carcinoma integumentary system disease reticulocyte measurement mean reticulocyte volume sex hormone measurement central nervous system neoplasm abnormality of body height abnormal morphology of female internal genitalia abnormal male internal genitalia morphology testicular atrophy abnormality of male external genitalia abnormal testis morphology abnormality of the kidney abnormality of the genital system abnormality of the urinary system abnormality of reproductive system physiology phenotypic abnormality abnormality of the genitourinary system menorrhagia hypogonadism abnormality of the ovary abnormality of the menstrual cycle abnormality of head or neck abnormality of the head hydrocephalus abnormality of skull size microcephaly abnormality of the face abnormality of the nose abnormality of the eye abnormal retinal morphology abnormality of vision visual impairment abnormality of the optic nerve abnormality of the pharynx abnormality of the nervous system behavioral abnormality emotional lability abnormality of the breast abnormal external genitalia abnormal internal genitalia abnormality of the endocrine system diabetes mellitus abnormality of the thyroid gland abnormality of the adrenal glands abnormality of the skeletal system abnormality of skeletal maturation abnormal skull morphology abnormal metaphysis morphology abnormality of the skin jaundice edema dermatological manifestations of systemic disorders biliary tract abnormality papilledema abnormal fundus morphology abnormalities of placenta or umbilical cord abnormality of prenatal development or birth seizure spasticity global developmental delay hypertonia encephalopathy abnormal joint morphology joint swelling abnormality of the liver cirrhosis cholestasis hepatocellular carcinoma portal hypertension micronodular cirrhosis abnormal abdomen morphology growth abnormality growth delay ascites abnormality of the integument abnormality of the larynx abnormality of the cardiovascular system abnormality of the pancreas abnormal nasopharynx morphology weight loss abnormality of blood and blood-forming tissues abnormality of thrombocytes thrombocytopenia abnormal erythrocyte morphology abnormal leukocyte morphology abnormal bleeding thrombocytosis polycythemia anemia leukemia abnormality of metabolism/homeostasis hypoglycemia fever alkalosis glucose intolerance morphological central nervous system abnormality abnormality of the abdominal organs vomiting diarrhea nausea and vomiting nausea abdominal pain abnormal esophagus morphology abnormal rectum morphology anorexia esophageal varix abnormal cerebral morphology abnormality of the respiratory system abnormality of the upper respiratory tract abnormal lung morphology dyspnea abnormal cerebral ventricle morphology hepatomegaly abnormal intestine morphology abnormal large intestine morphology headache hepatic encephalopathy acute leukemia upper motor neuron dysfunction abnormal stomach morphology abnormality of the vasculature hepatic necrosis hypotension abnormal venous morphology budd-chiari syndrome bone pain increased susceptibility to fractures neoplasm lymphoma nephroblastoma osteosarcoma abnormality of the immune system immunodeficiency delayed skeletal maturation pathologic fracture abnormal pattern of respiration abnormal respiratory system physiology osteolysis abnormality of limb bone morphology abnormality of the lower limb abnormality of femur morphology rhabdomyosarcoma melanoma myelodysplasia medulloblastoma ependymoma thyroid carcinoma neoplasm of the pancreas neoplasm of the liver embryonal neoplasm hypokalemia hyponatremia hyperbilirubinemia elevated hepatic transaminase abnormal cerebrospinal fluid morphology aplasia/hypoplasia involving the central nervous system abnormality of the calf abnormality of tibia morphology breast carcinoma colon cancer abnormality of the musculature hypercalcemia hypoalbuminemia abnormal blood ion concentration elevated circulating alkaline phosphatase concentration abdominal distention visceromegaly abnormal bone structure abnormal muscle tone abnormality of the biliary system decreased circulating antibody level short stature abnormality of body weight decreased body weight abnormal posterior eye segment morphology abnormal circulating carboxylic acid concentration abnormality of acid-base homeostasis abnormal circulating calcium concentration abnormal circulating nitrogen compound concentration abnormality of temperature regulation hemiplegia/hemiparesis neoplasm of the nervous system hematological neoplasm abnormality of alkaline phosphatase level poor appetite acute myeloid leukemia intestinal polyp venous insufficiency abnormality of humoral immunity abnormality of b cell physiology cellular immunodeficiency chronic lymphatic leukemia chronic leukemia type ii diabetes mellitus abnormal femoral metaphysis morphology abnormal lower-limb metaphysis morphology abnormal tibial metaphysis morphology viral hepatitis subacute progressive viral hepatitis abnormality of the hepatic vasculature acute lymphoblastic leukemia adrenocortical carcinoma neoplasm of the stomach aplasia/hypoplasia of the cerebrum abnormal choroid plexus morphology neoplasm of the gastrointestinal tract neoplasm of the genitourinary tract generalized edema neoplasm of the skin puberty and gonadal disorders abnormal prostate morphology abnormal axial skeleton morphology astrocytoma renal neoplasm neoplasm of striated muscle glioma retinoblastoma abnormality of the female genitalia abnormality of the male genitalia weakness due to upper motor neuron dysfunction neoplasm of the skeletal system abnormal immunoglobulin level pedal edema gonadal neoplasm urinary tract neoplasm genital neoplasm testicular neoplasm abnormal circulating protein concentration abnormal blood inorganic cation concentration abnormal blood cation concentration abnormal blood monovalent inorganic cation concentration abnormal blood sodium concentration abnormality of the upper urinary tract abnormality of immune system physiology abnormal cellular immune system morphology abnormal circulating dicarboxylic acid concentration abnormal glucose homeostasis abnormal blood glucose concentration abnormal cellular physiology abnormality of the gastrointestinal tract abnormal cardiovascular system physiology abnormality of blood circulation internal hemorrhage abnormality of fluid regulation abnormal blood potassium concentration abnormality of skin morphology abnormal long bone morphology generalized abnormality of skin abnormal central motor function abnormality of higher mental function abdominal symptom abnormality of adrenal morphology abnormal thyroid morphology neoplasm by histology neoplasm by anatomical site embryonal renal neoplasm abnormal muscle physiology abnormal skeletal morphology abnormal musculoskeletal physiology abnormal appendicular skeleton morphology abnormal platelet count abnormal platelet morphology anasarca hepatitis abnormal circulating albumin concentration prostate cancer stomach cancer abnormal number of erythroid precursors glioblastoma multiforme hodgkin lymphoma abnormal reproductive system morphology abnormal respiratory system morphology neoplasm of head and neck abnormal homeostasis abnormal eye morphology abnormal eye physiology fatigue abnormal enzyme/coenzyme activity pure red cell aplasia abnormal biliary tract physiology abnormality of brain morphology pain non-hodgkin lymphoma abnormal nervous system physiology abnormal nervous system morphology abnormal inflammatory response increased inflammatory response morphological abnormality of the gastrointestinal tract anorectal anomaly papilloma neurodevelopmental delay neurodevelopmental abnormality retinal neoplasm abnormal optic disc morphology abnormal vascular morphology abnormality of the digestive system abnormality of digestive system physiology abnormality of digestive system morphology constitutional symptom abnormal cellular phenotype increased circulating lactate dehydrogenase concentration abscess abnormal female reproductive system physiology nervous tissue neoplasm neuroectodermal neoplasm neuroepithelial neoplasm primitive neuroectodermal tumor central primitive neuroectodermal tumor lung adenocarcinoma abnormal vascular physiology large intestinal polyposis non-small cell lung carcinoma choroid plexus carcinoma soft tissue sarcoma abnormality of cardiovascular system morphology abnormality of venous physiology abnormal systemic blood pressure abnormal endocrine morphology abnormal breast morphology abnormal lymphocyte physiology impairment in personality functioning trophoblastic tumor abnormal circulating metabolite concentration abnormal immune system morphology increased blood pressure male reproductive system neoplasm abnormality of the musculoskeletal system abnormal pharynx morphology abnormal blood vessel morphology abnormal circulating bilirubin concentration abnormal leukocyte physiology abnormality of limbs abnormality of limb bone abnormal lower limb bone morphology decreased head circumference abnormal lactate dehydrogenase level neoplasm of the central nervous system neoplasm of the eye neoplasm of the breast neoplasm of the thyroid gland sarcoma neoplasm of the colon liver abscess neoplasm of the lung cognitive impairment abnormal forebrain morphology neoplasm of the endocrine system neoplasm of the larynx neoplasm of the respiratory system ovarian neoplasm neoplasia of the nasopharynx neoplasm of the adrenal gland neoplasm of the adrenal cortex abnormal glial cell morphology abnormal astrocyte morphology germ cell neoplasia neoplasm of the rectum hemobilia abnormal placenta morphology choriocarcinoma prostate neoplasm neoplasm of the large intestine benign neoplasm of the central nervous system malignant neoplasm of the central nervous system neoplasm of the male external genitalia abnormal emotion/affect behavior intestinal polyposis choroid plexus papilloma colorectal polyposis metabolic alkalosis epigastric pain abnormal liver morphology integumentary system cancer skin cancer vein disorder pelvic varices cancer varicose disease high grade astrocytic tumor high grade malignant neoplasm neuroepithelial neoplasm nervous system neoplasm epithelial skin neoplasm astrocytic tumor neoplastic disease or syndrome cancer or benign tumor malignant glioma acetylation activator alternative splicing tumor suppressor apoptosis biological rhythms cell cycle cytoskeleton dna-binding endoplasmic reticulum glycoprotein li-fraumeni syndrome metal-binding methylation mitochondrion nucleus phosphoprotein repressor transcription transcription regulation ubl conjugation zinc alternative promoter usage host-virus interaction cytoplasm isopeptide bond necrosis p53 dna-binding domain p53 tetramerisation motif p53 transactivation motif p53 tumour suppressor family p53-like transcription factor, dna-binding domain superfamily p53, tetramerisation domain p53, dna-binding domain p53/runt-type transcription factor, dna-binding domain superfamily p53 transactivation domain p53-like tetramerisation domain superfamily cellular tumor antigen p53, transactivation domain 2