Regulation of metabolic process
- ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
- ABHD5: abhydrolase domain containing 5
- ACADVL: acyl-CoA dehydrogenase, very long chain
- ACVR1: activin A receptor, type I
- ACVRL1: activin A receptor type II-like 1
- AIRE: autoimmune regulator
- AKT1: v-akt murine thymoma viral oncogene homolog 1
- ALDOB: aldolase B, fructose-bisphosphate
- ALK: anaplastic lymphoma receptor tyrosine kinase
- ALS2: amyotrophic lateral sclerosis 2 (juvenile)
- AMELX: amelogenin, X-linked
- AMH: anti-Mullerian hormone
- ANG: angiogenin, ribonuclease, RNase A family, 5
- ANK2: ankyrin 2, neuronal
- APC: adenomatous polyposis coli
- APOA1: apolipoprotein A-I
- APOE: apolipoprotein E
- APP: amyloid beta (A4) precursor protein
- APTX: aprataxin
- AR: androgen receptor
- ARID1A: AT rich interactive domain 1A (SWI-like)
- ARID1B: AT rich interactive domain 1B (SWI1-like)
- ATM: ataxia telangiectasia mutated
- ATN1: atrophin 1
- ATP7A: ATPase, Cu++ transporting, alpha polypeptide
- ATP8B1: ATPase, aminophospholipid transporter, class I, type 8B, member 1
- ATRX: alpha thalassemia/mental retardation syndrome X-linked
- ATXN1: ataxin 1
- ATXN2: ataxin 2
- AVP: arginine vasopressin
- AVPR2: arginine vasopressin receptor 2
- BARD1: BRCA1 associated RING domain 1
- BCOR: BCL6 corepressor
- 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
- BSCL2: Berardinelli-Seip congenital lipodystrophy 2 (seipin)
- BTK: Bruton agammaglobulinemia tyrosine kinase
- C3: complement component 3
- CAPN3: calpain 3, (p94)
- CARD14: caspase recruitment domain family, member 14
- CAV3: caveolin 3
- CDAN1: codanin 1
- 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
- CEP290: centrosomal protein 290kDa
- CFH: complement factor H
- CFI: complement factor I
- CHD7: chromodomain helicase DNA binding protein 7
- CHEK2: checkpoint kinase 2
- CHRNB2: cholinergic receptor, nicotinic, beta 2 (neuronal)
- CIRH1A: cirrhosis, autosomal recessive 1A (cirhin)
- CISD2: CDGSH iron sulfur domain 2
- CLCF1: cardiotrophin-like cytokine factor 1
- CLN3: ceroid-lipofuscinosis, neuronal 3
- CNBP: CCHC-type zinc finger, nucleic acid binding protein
- COL1A1: collagen, type I, alpha 1
- COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen)
- CREBBP: CREB binding protein
- CRLF1: cytokine receptor-like factor 1
- CSF1R: colony stimulating factor 1 receptor
- CST3: cystatin C
- CSTB: cystatin B (stefin B)
- CTDP1: CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
- CTNNB1: catenin (cadherin-associated protein), beta 1, 88kDa
- CTSA: cathepsin A
- CUL7: cullin 7
- CYLD: cylindromatosis (turban tumor syndrome)
- DCTN1: dynactin 1
- DICER1: dicer 1, ribonuclease type III
- DIRAS3: DIRAS family, GTP-binding RAS-like 3
- DLAT: dihydrolipoamide S-acetyltransferase
- DLD: dihydrolipoamide dehydrogenase
- DMD: dystrophin
- DNM2: dynamin 2
- DNMT1: DNA (cytosine-5-)-methyltransferase 1
- DOK7: docking protein 7
- DRD3: dopamine receptor D3
- DRD5: dopamine receptor D5
- EDA: ectodysplasin A
- EDN3: endothelin 3
- EDNRB: endothelin receptor type B
- EGLN1: egl nine homolog 1 (C. elegans)
- EGR2: early growth response 2
- EHMT1: euchromatic histone-lysine N-methyltransferase 1
- 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
- ENG: endoglin
- EP300: E1A binding protein p300
- EPAS1: endothelial PAS domain protein 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
- ERCC6: excision repair cross-complementing rodent repair deficiency, complementation group 6
- ERCC8: excision repair cross-complementing rodent repair deficiency, complementation group 8
- ESCO2: establishment of sister chromatid cohesion N-acetyltransferase 2
- EYA1: eyes absent homolog 1 (Drosophila)
- F12: coagulation factor XII (Hageman factor)
- F2: coagulation factor II (thrombin)
- FAS: Fas (TNF receptor superfamily, member 6)
- FBLN5: fibulin 5
- FBN1: fibrillin 1
- 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
- FGFR4: fibroblast growth factor receptor 4
- FKTN: fukutin
- FLCN: folliculin
- FLNA: filamin A, alpha
- FLT4: fms-related tyrosine kinase 4
- FMR1: fragile X mental retardation 1
- FOXC1: forkhead box C1
- FOXC2: forkhead box C2 (MFH-1, mesenchyme forkhead 1)
- FOXF1: forkhead box F1
- FOXG1: forkhead box G1
- FOXL2: forkhead box L2
- 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
- GCH1: GTP cyclohydrolase 1
- GDF6: growth differentiation factor 6
- GH1: growth hormone 1
- GHRHR: growth hormone releasing hormone receptor
- GLA: galactosidase, alpha
- GLI3: GLI family zinc finger 3
- GNAI3: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
- GNAS: GNAS complex locus
- GTF2IRD1: GTF2I repeat domain containing 1
- HAX1: HCLS1 associated protein X-1
- HBB: hemoglobin, beta
- HPRT1: hypoxanthine phosphoribosyltransferase 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)
- 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
- IL7R: interleukin 7 receptor
- INS: insulin
- IRF5: interferon regulatory factor 5
- IRF6: interferon regulatory factor 6
- ITGA6: integrin, alpha 6
- ITM2B: integral membrane protein 2B
- JAG1: jagged 1
- JAK2: Janus kinase 2
- KAT6B: K(lysine) acetyltransferase 6B
- 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
- LDLR: low density lipoprotein receptor
- LDLRAP1: low density lipoprotein receptor adaptor protein 1
- LHCGR: luteinizing hormone/choriogonadotropin receptor
- LIMK1: LIM domain kinase 1
- LITAF: lipopolysaccharide-induced TNF factor
- LMNA: lamin A/C
- LMX1B: LIM homeobox transcription factor 1, beta
- LPIN2: lipin 2
- 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
- MC1R: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
- MECP2: methyl CpG binding protein 2 (Rett syndrome)
- MED12: mediator complex subunit 12
- MEFV: Mediterranean fever
- MEN1: multiple endocrine neoplasia I
- MITF: microphthalmia-associated transcription factor
- MLYCD: malonyl-CoA decarboxylase
- MPV17: MpV17 mitochondrial inner membrane protein
- MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
- MSH6: mutS homolog 6 (E. coli)
- MSTN: myostatin
- MSX1: msh homeobox 1
- MSX2: msh homeobox 2
- MTMR2: myotubularin related protein 2
- MYBPC3: myosin binding protein C, cardiac
- MYCN: v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)
- MYO6: myosin VI
- NBN: nibrin
- NDP: Norrie disease (pseudoglioma)
- 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
- NPC2: Niemann-Pick disease, type C2
- NR0B1: nuclear receptor subfamily 0, group B, member 1
- NR5A1: nuclear receptor subfamily 5, group A, member 1
- NRAS: neuroblastoma RAS viral (v-ras) oncogene homolog
- NSD1: nuclear receptor binding SET domain protein 1
- NTRK1: neurotrophic tyrosine kinase, receptor, type 1
- OCRL: oculocerebrorenal syndrome of Lowe
- OTX2: orthodenticle homeobox 2
- PAFAH1B1: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
- PARK2: parkinson protein 2, E3 ubiquitin protein ligase (parkin)
- PARK7: parkinson protein 7
- PAX2: paired box 2
- PAX3: paired box 3
- PAX6: paired box 6
- 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
- PDHA1: pyruvate dehydrogenase (lipoamide) alpha 1
- PDHB: pyruvate dehydrogenase (lipoamide) beta
- PDHX: pyruvate dehydrogenase complex, component X
- PDP1: pyruvate dehydrogenase phosphatase catalytic subunit 1
- PHKG2: phosphorylase kinase, gamma 2 (testis)
- PHOX2A: paired-like homeobox 2a
- PHOX2B: paired-like homeobox 2b
- PIGA: phosphatidylinositol glycan anchor biosynthesis, class A
- PINK1: PTEN induced putative kinase 1
- PITX2: paired-like homeodomain 2
- PKD1: polycystic kidney disease 1 (autosomal dominant)
- PKD2: polycystic kidney disease 2 (autosomal dominant)
- PKLR: pyruvate kinase, liver and RBC
- PLAGL1: pleiomorphic adenoma gene-like 1
- PML: promyelocytic leukemia
- PNPLA2: patatin-like phospholipase domain containing 2
- POLH: polymerase (DNA directed), eta
- POR: P450 (cytochrome) oxidoreductase
- 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
- PROK2: prokineticin 2
- PROS1: protein S (alpha)
- PSAP: prosaposin
- PSEN1: presenilin 1
- PSEN2: presenilin 2 (Alzheimer disease 4)
- PTCH1: patched 1
- PTEN: phosphatase and tensin homolog
- PTS: 6-pyruvoyltetrahydropterin synthase
- 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
- REN: renin
- RET: ret proto-oncogene
- RP2: retinitis pigmentosa 2 (X-linked recessive)
- RPS19: ribosomal protein S19
- RPS26: ribosomal protein S26
- RPS6KA3: ribosomal protein S6 kinase, 90kDa, polypeptide 3
- RUNX2: runt-related transcription factor 2
- RYR2: ryanodine receptor 2 (cardiac)
- SALL1: sal-like 1 (Drosophila)
- SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
- SERPINA7: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
- SERPINC1: serpin peptidase inhibitor, clade C (antithrombin), member 1
- SERPING1: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
- SERPINI1: serpin peptidase inhibitor, clade I (neuroserpin), member 1
- 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
- SMARCA4: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
- SMARCAL1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
- SMARCB1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
- SMARCE1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, 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
- SOX10: SRY (sex determining region Y)-box 10
- SOX2: SRY (sex determining region Y)-box 2
- SOX9: SRY (sex determining region Y)-box 9
- SPR: sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
- SPRED1: sprouty-related, EVH1 domain containing 1
- SQSTM1: sequestosome 1
- SRCAP: Snf2-related CREBBP activator protein
- SRY: sex determining region Y
- STAT3: signal transducer and activator of transcription 3 (acute-phase response factor)
- STK11: serine/threonine kinase 11
- T: T, brachyury homolog (mouse)
- TAF1: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
- TARDBP: TAR DNA binding protein
- 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)
- TGIF1: TGFB-induced factor homeobox 1
- TINF2: TERF1 (TRF1)-interacting nuclear factor 2
- TNFRSF11A: tumor necrosis factor receptor superfamily, member 11a, NFKB activator
- TNFRSF1A: tumor necrosis factor receptor superfamily, member 1A
- TNNI3: troponin I type 3 (cardiac)
- TNNT2: troponin T type 2 (cardiac)
- TP53: tumor protein p53
- TP63: tumor protein p63
- TPM2: tropomyosin 2 (beta)
- TRAPPC2: trafficking protein particle complex 2
- TRPS1: trichorhinophalangeal syndrome I
- TSC1: tuberous sclerosis 1
- TSC2: tuberous sclerosis 2
- TTN: titin
- TWIST1: twist basic helix-loop-helix transcription factor 1
- UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
- UGT1A1: UDP glucuronosyltransferase 1 family, polypeptide A1
- USP9Y: ubiquitin specific peptidase 9, Y-linked
- 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
- WFS1: Wolfram syndrome 1 (wolframin)
- WNK1: WNK lysine deficient protein kinase 1
- 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
- ZFP57: ZFP57 zinc finger protein
- ZIC2: Zic family member 2
Source: Gene Ontology Consortium
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