Regulation of biological quality

Regulation of biological quality

• ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
• ABCA12: ATP-binding cassette, sub-family A (ABC1), member 12
• ACVRL1: activin A receptor type II-like 1
• ADAMTS13: ADAM metallopeptidase with thrombospondin type 1 motif, 13
• ALAS2: aminolevulinate, delta-, synthase 2
• ALDH5A1: aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)
• ALS2: amyotrophic lateral sclerosis 2 (juvenile)
• ANG: angiogenin, ribonuclease, RNase A family, 5
• APC: adenomatous polyposis coli
• APOB: apolipoprotein B (including Ag(x) antigen)
• APOE: apolipoprotein E
• APP: amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)
• AR: androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)
• ATP1A2: ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide
• ATP7A: ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome)
• ATP7B: ATPase, Cu++ transporting, beta polypeptide
• BARD1: BRCA1 associated RING domain 1
• BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
• CACNA1A: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
• CACNA1C: calcium channel, voltage-dependent, L type, alpha 1C subunit
• CD40LG: CD40 ligand
• CDH23: cadherin-like 23
• CLRN1: clarin 1
• COL3A1: collagen, type III, alpha 1
• COL4A4: collagen, type IV, alpha 4
• CP: ceruloplasmin (ferroxidase)
• CREBBP: CREB binding protein (Rubinstein-Taybi syndrome)
• DFNB31: deafness, autosomal recessive 31
• DRD3: dopamine receptor D3
• EDN3: endothelin 3
• EIF2B2: eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
• EIF2B4: eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
• EIF2B5: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
• EP300: E1A binding protein p300
• F2: coagulation factor II (thrombin)
• F5: coagulation factor V (proaccelerin, labile factor)
• F8: coagulation factor VIII, procoagulant component (hemophilia A)
• F9: coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)
• FGD1: FYVE, RhoGEF and PH domain containing 1
• FGFR1: fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)
• FGFR2: fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)
• FGFR3: fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)
• FGFRL1: fibroblast growth factor receptor-like 1
• FOXP3: forkhead box P3
• FTL: ferritin, light polypeptide
• FXN: frataxin
• GAA: glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)
• GCH1: GTP cyclohydrolase 1 (dopa-responsive dystonia)
• GPR98: G protein-coupled receptor 98
• HFE: hemochromatosis
• HPRT1: hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)
• LDLRAP1: low density lipoprotein receptor adaptor protein 1
• NBN: nibrin
• NF1: neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
• NOTCH2: Notch homolog 2 (Drosophila)
• NPC1: Niemann-Pick disease, type C1
• NPC2: Niemann-Pick disease, type C2
• PCDH15: protocadherin 15
• PCSK9: proprotein convertase subtilisin/kexin type 9
• PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive)
• PLP1: proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)
• PRNP: prion protein (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)
• PROK2: prokineticin 2
• PRX: periaxin
• RAD50: RAD50 homolog (S. cerevisiae)
• RB1: retinoblastoma 1 (including osteosarcoma)
• SAA1: serum amyloid A1
• SBF2: SET binding factor 2
• SLC12A6: solute carrier family 12 (potassium/chloride transporters), member 6
• SLC1A3: solute carrier family 1 (glial high affinity glutamate transporter), member 3
• SLC40A1: solute carrier family 40 (iron-regulated transporter), member 1
• SMAD4: SMAD family member 4
• SNCAIP: synuclein, alpha interacting protein (synphilin)
• SOD1: superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))
• TFR2: transferrin receptor 2
• TGFB1: transforming growth factor, beta 1
• TMPRSS3: transmembrane protease, serine 3
• TP53: tumor protein p53
• TRIOBP: TRIO and F-actin binding protein
• USH1C: Usher syndrome 1C (autosomal recessive, severe)
• USH1G: Usher syndrome 1G (autosomal recessive)
• USH2A: Usher syndrome 2A (autosomal recessive, mild)
• VWF: von Willebrand factor
• WFS1: Wolfram syndrome 1 (wolframin)
• WRN: Werner syndrome

Source: Gene Ontology Consortium (September 2008).