Cellular developmental process
- ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
- ACTA1: actin, alpha 1, skeletal muscle
- ACTA2: actin, alpha 2, smooth muscle, aorta
- ACTB: actin, beta
- ACTG1: actin, gamma 1
- ACVR1: activin A receptor, type I
- ACVRL1: activin A receptor type II-like 1
- AKT1: v-akt murine thymoma viral oncogene homolog 1
- ALAS2: aminolevulinate, delta-, synthase 2
- ALK: anaplastic lymphoma receptor tyrosine kinase
- ALS2: amyotrophic lateral sclerosis 2 (juvenile)
- AMELX: amelogenin, X-linked
- ANG: angiogenin, ribonuclease, RNase A family, 5
- ANK1: ankyrin 1, erythrocytic
- ANK2: ankyrin 2, neuronal
- APOB: apolipoprotein B (including Ag(x) antigen)
- APOE: apolipoprotein E
- APP: amyloid beta (A4) precursor protein
- ATL1: atlastin GTPase 1
- ATM: ataxia telangiectasia mutated
- ATP2B2: ATPase, Ca++ transporting, plasma membrane 2
- ATP7A: ATPase, Cu++ transporting, alpha polypeptide
- BBS1: Bardet-Biedl syndrome 1
- BBS10: Bardet-Biedl syndrome 10
- BMPR1A: bone morphogenetic protein receptor, type IA
- BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
- BRCA1: breast cancer 1, early onset
- BSCL2: Berardinelli-Seip congenital lipodystrophy 2 (seipin)
- BTK: Bruton agammaglobulinemia tyrosine kinase
- CACNA1C: calcium channel, voltage-dependent, L type, alpha 1C subunit
- CACNA1S: calcium channel, voltage-dependent, L type, alpha 1S subunit
- CACNB4: calcium channel, voltage-dependent, beta 4 subunit
- CAPN3: calpain 3, (p94)
- CAV3: caveolin 3
- CCM2: cerebral cavernous malformation 2
- CDC73: cell division cycle 73
- CDKL5: cyclin-dependent kinase-like 5
- CEBPA: CCAAT/enhancer binding protein (C/EBP), alpha
- CEP290: centrosomal protein 290kDa
- CHD7: chromodomain helicase DNA binding protein 7
- CHN1: chimerin 1
- CHRNB2: cholinergic receptor, nicotinic, beta 2 (neuronal)
- CLCF1: cardiotrophin-like cytokine factor 1
- COCH: cochlin
- COL1A1: collagen, type I, alpha 1
- COL2A1: collagen, type II, alpha 1
- COL3A1: collagen, type III, alpha 1
- COL4A1: collagen, type IV, alpha 1
- COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen)
- COL4A4: collagen, type IV, alpha 4
- COL4A5: collagen, type IV, alpha 5
- COL5A1: collagen, type V, alpha 1
- COL5A2: collagen, type V, alpha 2
- COL6A1: collagen, type VI, alpha 1
- COL6A2: collagen, type VI, alpha 2
- COL6A3: collagen, type VI, alpha 3
- COL9A1: collagen, type IX, alpha 1
- COL9A2: collagen, type IX, alpha 2
- COL9A3: collagen, type IX, alpha 3
- CSF1R: colony stimulating factor 1 receptor
- CTNNB1: catenin (cadherin-associated protein), beta 1, 88kDa
- CUL7: cullin 7
- DCX: doublecortin
- DFNB31: deafness, autosomal recessive 31
- DICER1: dicer 1, ribonuclease type III
- DMD: dystrophin
- DMPK: dystrophia myotonica-protein kinase
- DRD3: dopamine receptor D3
- EDNRB: endothelin receptor type B
- EGR2: early growth response 2
- 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
- ENG: endoglin
- EPAS1: endothelial PAS domain protein 1
- ERAP1: endoplasmic reticulum aminopeptidase 1
- 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
- F2: coagulation factor II (thrombin)
- FBN2: fibrillin 2
- FGD1: FYVE, RhoGEF and PH domain containing 1
- FGD4: FYVE, RhoGEF and PH domain containing 4
- FGF23: fibroblast growth factor 23
- FGFR1: fibroblast growth factor receptor 1
- FGFR2: fibroblast growth factor receptor 2
- FGFR3: fibroblast growth factor receptor 3
- FLCN: folliculin
- FLNA: filamin A, alpha
- FOXC1: forkhead box C1
- FOXC2: forkhead box C2 (MFH-1, mesenchyme forkhead 1)
- FOXG1: forkhead box G1
- FOXL2: forkhead box L2
- FOXP3: forkhead box P3
- FRMD7: FERM domain containing 7
- FZD4: frizzled family receptor 4
- G6PD: glucose-6-phosphate dehydrogenase
- GATA1: GATA binding protein 1 (globin transcription factor 1)
- GLI3: GLI family zinc finger 3
- GPR98: G protein-coupled receptor 98
- GSN: gelsolin
- HAX1: HCLS1 associated protein X-1
- HFE2: hemochromatosis type 2 (juvenile)
- HLA-B: major histocompatibility complex, class I, B
- HRAS: v-Ha-ras Harvey rat sarcoma viral oncogene homolog
- IL23R: interleukin 23 receptor
- INS: insulin
- IRF6: interferon regulatory factor 6
- JAG1: jagged 1
- JAK2: Janus kinase 2
- KAL1: Kallmann syndrome 1 sequence
- KCNQ2: potassium voltage-gated channel, KQT-like subfamily, member 2
- KCNQ3: potassium voltage-gated channel, KQT-like subfamily, member 3
- KIT: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
- KMT2D: myeloid/lymphoid or mixed-lineage leukemia 2
- KRAS: v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
- KRT10: keratin 10
- KRT3: keratin 3
- KRT6A: keratin 6A
- L1CAM: L1 cell adhesion molecule
- LGI1: leucine-rich, glioma inactivated 1
- LIMK1: LIM domain kinase 1
- LMX1B: LIM homeobox transcription factor 1, beta
- LOR: loricrin
- LPL: lipoprotein lipase
- LRP5: low density lipoprotein receptor-related protein 5
- LRRK2: leucine-rich repeat kinase 2
- MAP2K1: mitogen-activated protein kinase kinase 1
- MAP2K2: mitogen-activated protein kinase kinase 2
- MAPT: microtubule-associated protein tau
- MEN1: multiple endocrine neoplasia I
- MITF: microphthalmia-associated transcription factor
- MKKS: McKusick-Kaufman syndrome
- MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
- MSX1: msh homeobox 1
- MSX2: msh homeobox 2
- MTM1: myotubularin 1
- MYH9: myosin, heavy chain 9, non-muscle
- MYO7A: myosin VIIA
- NF1: neurofibromin 1
- NF2: neurofibromin 2 (merlin)
- NGF: nerve growth factor (beta polypeptide)
- NOG: noggin
- NOTCH2: notch 2
- NR4A2: nuclear receptor subfamily 4, group A, member 2
- NRAS: neuroblastoma RAS viral (v-ras) oncogene homolog
- NTRK1: neurotrophic tyrosine kinase, receptor, type 1
- OCRL: oculocerebrorenal syndrome of Lowe
- OFD1: oral-facial-digital syndrome 1
- OTX2: orthodenticle homeobox 2
- PAFAH1B1: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
- PAX2: paired box 2
- PAX6: paired box 6
- PAX8: paired box 8
- PCNT: pericentrin
- PCSK9: proprotein convertase subtilisin/kexin type 9
- PDGFB: platelet-derived growth factor beta polypeptide
- PDGFRA: platelet-derived growth factor receptor, alpha polypeptide
- PDGFRB: platelet-derived growth factor receptor, beta polypeptide
- PHOX2A: paired-like homeobox 2a
- PHOX2B: paired-like homeobox 2b
- PITX2: paired-like homeodomain 2
- PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive)
- PKP2: plakophilin 2
- PLAGL1: pleiomorphic adenoma gene-like 1
- PNP: purine nucleoside phosphorylase
- PPT1: palmitoyl-protein thioesterase 1
- PRICKLE1: prickle homolog 1 (Drosophila)
- PRNP: prion protein
- 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)
- 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
- RET: ret proto-oncogene
- ROBO3: roundabout, axon guidance receptor, homolog 3 (Drosophila)
- RPGR: retinitis pigmentosa GTPase regulator
- RPS19: ribosomal protein S19
- RPS6KA3: ribosomal protein S6 kinase, 90kDa, polypeptide 3
- RUNX2: runt-related transcription factor 2
- RYR1: ryanodine receptor 1 (skeletal)
- SALL1: sal-like 1 (Drosophila)
- SHANK3: SH3 and multiple ankyrin repeat domains 3
- SHH: sonic hedgehog
- SIX1: SIX homeobox 1
- SKI: v-ski sarcoma viral oncogene homolog (avian)
- SMAD3: SMAD family member 3
- SMAD4: SMAD family member 4
- SMARCB1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
- SNAI2: snail homolog 2 (Drosophila)
- SOD1: superoxide dismutase 1, soluble
- SOS1: son of sevenless homolog 1 (Drosophila)
- SOX2: SRY (sex determining region Y)-box 2
- SOX9: SRY (sex determining region Y)-box 9
- STAT3: signal transducer and activator of transcription 3 (acute-phase response factor)
- STRC: stereocilin
- SYNE1: spectrin repeat containing, nuclear envelope 1
- T: T, brachyury homolog (mouse)
- TBX1: T-box 1
- TBX5: T-box 5
- TCF4: transcription factor 4
- TEK: TEK tyrosine kinase, endothelial
- TET2: tet methylcytosine dioxygenase 2
- TFAP2A: transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
- TFAP2B: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
- TGFB1: transforming growth factor, beta 1
- TGFBR1: transforming growth factor, beta receptor 1
- TGFBR2: transforming growth factor, beta receptor II (70/80kDa)
- TGM1: transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
- TH: tyrosine hydroxylase
- TNFRSF11A: tumor necrosis factor receptor superfamily, member 11a, NFKB activator
- TNNI3: troponin I type 3 (cardiac)
- TP53: tumor protein p53
- TP63: tumor protein p63
- TREM2: triggering receptor expressed on myeloid cells 2
- TRIOBP: TRIO and F-actin binding protein
- TRPS1: trichorhinophalangeal syndrome I
- TRPV4: transient receptor potential cation channel, subfamily V, member 4
- TTN: titin
- TWIST1: twist basic helix-loop-helix transcription factor 1
- TYROBP: TYRO protein tyrosine kinase binding protein
- USH2A: Usher syndrome 2A (autosomal recessive, mild)
- VCAN: versican
- VHL: von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
- VLDLR: very low density lipoprotein receptor
- WNK1: WNK lysine deficient protein kinase 1
- WNT3: wingless-type MMTV integration site family, member 3
- WNT4: wingless-type MMTV integration site family, member 4
- WT1: Wilms tumor 1
- ZAP70: zeta-chain (TCR) associated protein kinase 70kDa
Source: Gene Ontology Consortium
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