Cellular response to stimulus
- AAAS: achalasia, adrenocortical insufficiency, alacrimia
- ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
- ABCA4: ATP-binding cassette, sub-family A (ABC1), member 4
- ACADVL: acyl-CoA dehydrogenase, very long chain
- ACTB: actin, beta
- ACTG1: actin, gamma 1
- ACVR1: activin A receptor, type I
- ACVRL1: activin A receptor type II-like 1
- ADA: adenosine deaminase
- ADAMTS13: ADAM metallopeptidase with thrombospondin type 1 motif, 13
- ADAMTSL2: ADAMTS-like 2
- AGPAT2: 1-acylglycerol-3-phosphate O-acyltransferase 2
- AHCY: adenosylhomocysteinase
- AKT1: v-akt murine thymoma viral oncogene homolog 1
- ALK: anaplastic lymphoma receptor tyrosine kinase
- ALS2: amyotrophic lateral sclerosis 2 (juvenile)
- AMELX: amelogenin, X-linked
- AMHR2: anti-Mullerian hormone receptor, type II
- ANK2: ankyrin 2, neuronal
- APC: adenomatous polyposis coli
- APOA1: apolipoprotein A-I
- APOB: apolipoprotein B (including Ag(x) antigen)
- APOE: apolipoprotein E
- APP: amyloid beta (A4) precursor protein
- APTX: aprataxin
- AQP2: aquaporin 2 (collecting duct)
- AR: androgen receptor
- ARFGEF2: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
- ARID1A: AT rich interactive domain 1A (SWI-like)
- ATG16L1: autophagy related 16-like 1 (S. cerevisiae)
- ATM: ataxia telangiectasia mutated
- ATP2A1: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
- ATP6V0A2: ATPase, H+ transporting, lysosomal V0 subunit a2
- ATP7A: ATPase, Cu++ transporting, alpha polypeptide
- ATXN3: ataxin 3
- AVP: arginine vasopressin
- AVPR2: arginine vasopressin receptor 2
- BARD1: BRCA1 associated RING domain 1
- BLM: Bloom syndrome, RecQ helicase-like
- BMPR1A: bone morphogenetic protein receptor, type IA
- BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
- BRAF: v-raf murine sarcoma viral oncogene homolog B1
- BRCA1: breast cancer 1, early onset
- BRCA2: breast cancer 2, early onset
- BRIP1: BRCA1 interacting protein C-terminal helicase 1
- BTK: Bruton agammaglobulinemia tyrosine kinase
- C3: complement component 3
- CACNA1C: calcium channel, voltage-dependent, L type, alpha 1C subunit
- CAPN3: calpain 3, (p94)
- CARD14: caspase recruitment domain family, member 14
- CASQ2: calsequestrin 2 (cardiac muscle)
- CASR: calcium-sensing receptor
- CAV3: caveolin 3
- CCM2: cerebral cavernous malformation 2
- CDC73: cell division cycle 73
- CDH1: cadherin 1, type 1, E-cadherin (epithelial)
- CDKL5: cyclin-dependent kinase-like 5
- CDKN1C: cyclin-dependent kinase inhibitor 1C (p57, Kip2)
- CEBPA: CCAAT/enhancer binding protein (C/EBP), alpha
- CHEK2: checkpoint kinase 2
- CHN1: chimerin 1
- CHRNA2: cholinergic receptor, nicotinic, alpha 2 (neuronal)
- CHRNA4: cholinergic receptor, nicotinic, alpha 4 (neuronal)
- CHRNB2: cholinergic receptor, nicotinic, beta 2 (neuronal)
- CHRNE: cholinergic receptor, nicotinic, epsilon (muscle)
- CHRNG: cholinergic receptor, nicotinic, gamma (muscle)
- CLCF1: cardiotrophin-like cytokine factor 1
- CLN3: ceroid-lipofuscinosis, neuronal 3
- CNGA3: cyclic nucleotide gated channel alpha 3
- CNGB3: cyclic nucleotide gated channel beta 3
- COL1A1: collagen, type I, alpha 1
- COL1A2: collagen, type I, alpha 2
- COL3A1: collagen, type III, alpha 1
- COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen)
- COMT: catechol-O-methyltransferase
- CREBBP: CREB binding protein
- CRLF1: cytokine receptor-like factor 1
- CSF1R: colony stimulating factor 1 receptor
- CTNNB1: catenin (cadherin-associated protein), beta 1, 88kDa
- CTNND2: catenin (cadherin-associated protein), delta 2
- CUL7: cullin 7
- CYLD: cylindromatosis (turban tumor syndrome)
- CYP11B1: cytochrome P450, family 11, subfamily B, polypeptide 1
- CYP11B2: cytochrome P450, family 11, subfamily B, polypeptide 2
- CYP1B1: cytochrome P450, family 1, subfamily B, polypeptide 1
- CYP21A2: cytochrome P450, family 21, subfamily A, polypeptide 2
- CYP27A1: cytochrome P450, family 27, subfamily A, polypeptide 1
- DCTN1: dynactin 1
- DICER1: dicer 1, ribonuclease type III
- DMD: dystrophin
- DNM2: dynamin 2
- DRD3: dopamine receptor D3
- DRD5: dopamine receptor D5
- DUOX2: dual oxidase 2
- EDA: ectodysplasin A
- EDN3: endothelin 3
- EDNRB: endothelin receptor type B
- EGLN1: egl nine homolog 1 (C. elegans)
- EIF2B1: eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
- EIF2B2: eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
- EIF2B3: eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
- EIF2B4: eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
- EIF2B5: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
- ELANE: elastase, neutrophil expressed
- EMD: emerin
- ENG: endoglin
- EP300: E1A binding protein p300
- EPAS1: endothelial PAS domain protein 1
- EPOR: erythropoietin receptor
- ERBB2: v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
- ERCC2: excision repair cross-complementing rodent repair deficiency, complementation group 2
- ERCC3: excision repair cross-complementing rodent repair deficiency, complementation group 3
- ERCC6: excision repair cross-complementing rodent repair deficiency, complementation group 6
- ERCC8: excision repair cross-complementing rodent repair deficiency, complementation group 8
- EVC: Ellis van Creveld syndrome
- EVC2: Ellis van Creveld syndrome 2
- EXT1: exostosin glycosyltransferase 1
- EXT2: exostosin glycosyltransferase 2
- EYA1: eyes absent homolog 1 (Drosophila)
- F2: coagulation factor II (thrombin)
- FAM126A: family with sequence similarity 126, member A
- FANCA: Fanconi anemia, complementation group A
- FANCC: Fanconi anemia, complementation group C
- FANCG: Fanconi anemia, complementation group G
- FAS: Fas (TNF receptor superfamily, member 6)
- FBLN5: fibulin 5
- FBN1: fibrillin 1
- FBN2: fibrillin 2
- FGD1: FYVE, RhoGEF and PH domain containing 1
- FGD4: FYVE, RhoGEF and PH domain containing 4
- FGF23: fibroblast growth factor 23
- FGF3: fibroblast growth factor 3
- FGFR1: fibroblast growth factor receptor 1
- FGFR2: fibroblast growth factor receptor 2
- FGFR3: fibroblast growth factor receptor 3
- FGFR4: fibroblast growth factor receptor 4
- FGFRL1: fibroblast growth factor receptor-like 1
- FKTN: fukutin
- FLCN: folliculin
- FLNA: filamin A, alpha
- FLNB: filamin B, beta
- FLT4: fms-related tyrosine kinase 4
- FMO3: flavin containing monooxygenase 3
- FOXC1: forkhead box C1
- FOXC2: forkhead box C2 (MFH-1, mesenchyme forkhead 1)
- FOXP3: forkhead box P3
- FXN: frataxin
- FZD4: frizzled family receptor 4
- G6PD: glucose-6-phosphate dehydrogenase
- GATA1: GATA binding protein 1 (globin transcription factor 1)
- GBA: glucosidase, beta, acid
- GDF6: growth differentiation factor 6
- GH1: growth hormone 1
- GHRHR: growth hormone releasing hormone receptor
- GJA1: gap junction protein, alpha 1, 43kDa
- GLI3: GLI family zinc finger 3
- GLRA1: glycine receptor, alpha 1
- GNAI3: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
- GNAS: GNAS complex locus
- GNAT2: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
- GPC3: glypican 3
- GPR143: G protein-coupled receptor 143
- GPR56: G protein-coupled receptor 56
- GPR98: G protein-coupled receptor 98
- GRN: granulin
- GSS: glutathione synthetase
- GTF2I: general transcription factor IIi
- GUCY2D: guanylate cyclase 2D, membrane (retina-specific)
- HAX1: HCLS1 associated protein X-1
- HBA2: hemoglobin, alpha 2
- HBB: hemoglobin, beta
- HLA-B: major histocompatibility complex, class I, B
- HLA-DQA1: major histocompatibility complex, class II, DQ alpha 1
- HLA-DQB1: major histocompatibility complex, class II, DQ beta 1
- HLA-DRB1: major histocompatibility complex, class II, DR beta 1
- HRAS: v-Ha-ras Harvey rat sarcoma viral oncogene homolog
- HSPB1: heat shock 27kDa protein 1
- HTT: huntingtin
- IGF2: insulin-like growth factor 2 (somatomedin A)
- IGHMBP2: immunoglobulin mu binding protein 2
- IKBKAP: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
- IKBKG: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
- IL1A: interleukin 1, alpha
- IL23R: interleukin 23 receptor
- IL2RG: interleukin 2 receptor, gamma
- IL7R: interleukin 7 receptor
- INS: insulin
- IRAK4: interleukin-1 receptor-associated kinase 4
- IRF5: interferon regulatory factor 5
- IRF6: interferon regulatory factor 6
- JAG1: jagged 1
- JAK2: Janus kinase 2
- KIT: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
- KL: klotho
- KMT2D: myeloid/lymphoid or mixed-lineage leukemia 2
- KRAS: v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
- KRIT1: KRIT1, ankyrin repeat containing
- KRT17: keratin 17
- LDLR: low density lipoprotein receptor
- LDLRAP1: low density lipoprotein receptor adaptor protein 1
- LFNG: LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
- LHCGR: luteinizing hormone/choriogonadotropin receptor
- LIMK1: LIM domain kinase 1
- LITAF: lipopolysaccharide-induced TNF factor
- LMNA: lamin A/C
- LPAR6: lysophosphatidic acid receptor 6
- LPL: lipoprotein lipase
- LRP2: low density lipoprotein receptor-related protein 2
- LRP5: low density lipoprotein receptor-related protein 5
- LRRK2: leucine-rich repeat kinase 2
- LYST: lysosomal trafficking regulator
- MAP2K1: mitogen-activated protein kinase kinase 1
- MAP2K2: mitogen-activated protein kinase kinase 2
- MAT1A: methionine adenosyltransferase I, alpha
- MC1R: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
- MED12: mediator complex subunit 12
- MEFV: Mediterranean fever
- MEN1: multiple endocrine neoplasia I
- MFN2: mitofusin 2
- MID1: midline 1 (Opitz/BBB syndrome)
- MKKS: McKusick-Kaufman syndrome
- MLC1: megalencephalic leukoencephalopathy with subcortical cysts 1
- MLH1: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
- MPL: myeloproliferative leukemia virus oncogene
- MPV17: MpV17 mitochondrial inner membrane protein
- MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
- MSH6: mutS homolog 6 (E. coli)
- MSX1: msh homeobox 1
- MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase
- MTRR: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
- MUTYH: mutY homolog (E. coli)
- MYH9: myosin, heavy chain 9, non-muscle
- MYO6: myosin VI
- NBN: nibrin
- NDP: Norrie disease (pseudoglioma)
- NDRG1: N-myc downstream regulated 1
- NF1: neurofibromin 1
- NF2: neurofibromin 2 (merlin)
- NGF: nerve growth factor (beta polypeptide)
- NIPBL: Nipped-B homolog (Drosophila)
- NLRP1: NLR family, pyrin domain containing 1
- NLRP12: NLR family, pyrin domain containing 12
- NLRP3: NLR family, pyrin domain containing 3
- NOD2: nucleotide-binding oligomerization domain containing 2
- NOG: noggin
- NOTCH2: notch 2
- NOTCH3: notch 3
- NR0B1: nuclear receptor subfamily 0, group B, member 1
- NR3C2: nuclear receptor subfamily 3, group C, member 2
- NR4A2: nuclear receptor subfamily 4, group A, member 2
- NR5A1: nuclear receptor subfamily 5, group A, member 1
- NRAS: neuroblastoma RAS viral (v-ras) oncogene homolog
- NTRK1: neurotrophic tyrosine kinase, receptor, type 1
- OCRL: oculocerebrorenal syndrome of Lowe
- OPA1: optic atrophy 1 (autosomal dominant)
- OPN1LW: opsin 1 (cone pigments), long-wave-sensitive
- OPN1MW: opsin 1 (cone pigments), medium-wave-sensitive
- OPN1SW: opsin 1 (cone pigments), short-wave-sensitive
- OTX2: orthodenticle homeobox 2
- PAFAH1B1: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
- PALB2: partner and localizer of BRCA2
- PARK2: parkinson protein 2, E3 ubiquitin protein ligase (parkin)
- PARK7: parkinson protein 7
- PAX2: paired box 2
- PAX8: paired box 8
- PCSK9: proprotein convertase subtilisin/kexin type 9
- PDCD10: programmed cell death 10
- PDGFB: platelet-derived growth factor beta polypeptide
- PDGFRA: platelet-derived growth factor receptor, alpha polypeptide
- PDGFRB: platelet-derived growth factor receptor, beta polypeptide
- PHOX2B: paired-like homeobox 2b
- PINK1: PTEN induced putative kinase 1
- PKD1: polycystic kidney disease 1 (autosomal dominant)
- PKD2: polycystic kidney disease 2 (autosomal dominant)
- PLA2G6: phospholipase A2, group VI (cytosolic, calcium-independent)
- PML: promyelocytic leukemia
- PMS2: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
- POLG: polymerase (DNA directed), gamma
- POLH: polymerase (DNA directed), eta
- PPP1R12A: protein phosphatase 1, regulatory subunit 12A
- PRICKLE1: prickle homolog 1 (Drosophila)
- PRKAG2: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
- PRKAR1A: protein kinase, cAMP-dependent, regulatory, type I, alpha
- PRNP: prion protein
- PRODH: proline dehydrogenase (oxidase) 1
- PROK2: prokineticin 2
- PSEN2: presenilin 2 (Alzheimer disease 4)
- PTCH1: patched 1
- PTEN: phosphatase and tensin homolog
- PTPN11: protein tyrosine phosphatase, non-receptor type 11
- PTPN22: protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
- RAB23: RAB23, member RAS oncogene family
- RAB7A: RAB7A, member RAS oncogene family
- RAD50: RAD50 homolog (S. cerevisiae)
- RAD51: RAD51 homolog (S. cerevisiae)
- RAF1: v-raf-1 murine leukemia viral oncogene homolog 1
- RARA: retinoic acid receptor, alpha
- RASA1: RAS p21 protein activator (GTPase activating protein) 1
- RB1: retinoblastoma 1
- RECQL4: RecQ protein-like 4
- REN: renin
- RET: ret proto-oncogene
- RHO: rhodopsin
- ROR2: receptor tyrosine kinase-like orphan receptor 2
- RPE65: retinal pigment epithelium-specific protein 65kDa
- RPS19: ribosomal protein S19
- RPS6KA3: ribosomal protein S6 kinase, 90kDa, polypeptide 3
- RUNX2: runt-related transcription factor 2
- RYR1: ryanodine receptor 1 (skeletal)
- RYR2: ryanodine receptor 2 (cardiac)
- SAA1: serum amyloid A1
- SALL1: sal-like 1 (Drosophila)
- SBDS: Shwachman-Bodian-Diamond syndrome
- SCN5A: sodium channel, voltage-gated, type V, alpha subunit
- SETX: senataxin
- SH3BP2: SH3-domain binding protein 2
- SHANK3: SH3 and multiple ankyrin repeat domains 3
- SHH: sonic hedgehog
- SKI: v-ski sarcoma viral oncogene homolog (avian)
- SLC12A6: solute carrier family 12 (potassium/chloride transporters), member 6
- SLC5A5: solute carrier family 5 (sodium iodide symporter), member 5
- SMAD3: SMAD family member 3
- SMAD4: SMAD family member 4
- SMARCA4: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
- SMARCB1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
- SMC1A: structural maintenance of chromosomes 1A
- SMC3: structural maintenance of chromosomes 3
- SMPD1: sphingomyelin phosphodiesterase 1, acid lysosomal
- SNAI2: snail homolog 2 (Drosophila)
- SNCA: synuclein, alpha (non A4 component of amyloid precursor)
- SOD1: superoxide dismutase 1, soluble
- SOS1: son of sevenless homolog 1 (Drosophila)
- SOST: sclerostin
- SOX2: SRY (sex determining region Y)-box 2
- SOX9: SRY (sex determining region Y)-box 9
- SP110: SP110 nuclear body protein
- SPRED1: sprouty-related, EVH1 domain containing 1
- SQSTM1: sequestosome 1
- STAT3: signal transducer and activator of transcription 3 (acute-phase response factor)
- STAT4: signal transducer and activator of transcription 4
- STK11: serine/threonine kinase 11
- T: T, brachyury homolog (mouse)
- TAF1: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
- TBX1: T-box 1
- TCIRG1: T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
- TEK: TEK tyrosine kinase, endothelial
- TFAP2A: transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
- TFAP2B: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
- TG: thyroglobulin
- TGFB1: transforming growth factor, beta 1
- TGFBR1: transforming growth factor, beta receptor 1
- TGFBR2: transforming growth factor, beta receptor II (70/80kDa)
- TGIF1: TGFB-induced factor homeobox 1
- TMEM127: transmembrane protein 127
- TNFRSF11A: tumor necrosis factor receptor superfamily, member 11a, NFKB activator
- TNFRSF13B: tumor necrosis factor receptor superfamily, member 13B
- TNFRSF1A: tumor necrosis factor receptor superfamily, member 1A
- TP53: tumor protein p53
- TP63: tumor protein p63
- TREX1: three prime repair exonuclease 1
- TRPV4: transient receptor potential cation channel, subfamily V, member 4
- TSC1: tuberous sclerosis 1
- TSC2: tuberous sclerosis 2
- TSHB: thyroid stimulating hormone, beta
- TSHR: thyroid stimulating hormone receptor
- TTR: transthyretin
- TWIST1: twist basic helix-loop-helix transcription factor 1
- TYROBP: TYRO protein tyrosine kinase binding protein
- UBE3A: ubiquitin protein ligase E3A
- UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
- UGT1A1: UDP glucuronosyltransferase 1 family, polypeptide A1
- USP9Y: ubiquitin specific peptidase 9, Y-linked
- UVSSA: UV-stimulated scaffold protein A
- VAPB: VAMP (vesicle-associated membrane protein)-associated protein B and C
- VCP: valosin containing protein
- VHL: von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
- VLDLR: very low density lipoprotein receptor
- WAS: Wiskott-Aldrich syndrome
- WFS1: Wolfram syndrome 1 (wolframin)
- WISP3: WNT1 inducible signaling pathway protein 3
- WNK1: WNK lysine deficient protein kinase 1
- WNK4: WNK lysine deficient protein kinase 4
- WNT3: wingless-type MMTV integration site family, member 3
- WNT4: wingless-type MMTV integration site family, member 4
- WRN: Werner syndrome, RecQ helicase-like
- WT1: Wilms tumor 1
- XIAP: X-linked inhibitor of apoptosis
- XPA: xeroderma pigmentosum, complementation group A
- XPC: xeroderma pigmentosum, complementation group C
- YARS: tyrosyl-tRNA synthetase
- YWHAE: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
- ZAP70: zeta-chain (TCR) associated protein kinase 70kDa
Source: Gene Ontology Consortium
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