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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
  • ABCB7: ATP-binding cassette, sub-family B (MDR/TAP), member 7
  • ABCC8: ATP-binding cassette, sub-family C (CFTR/MRP), member 8
  • ABCG5: ATP-binding cassette, sub-family G (WHITE), member 5
  • ABCG8: ATP-binding cassette, sub-family G (WHITE), member 8
  • ABHD5: abhydrolase domain containing 5
  • ACADVL: acyl-CoA dehydrogenase, very long chain
  • ACE: angiotensin I converting enzyme
  • ACOX1: acyl-CoA oxidase 1, palmitoyl
  • ACTB: actin, beta
  • ACTG1: actin, gamma 1
  • ACVRL1: activin A receptor type II-like 1
  • ADAMTS13: ADAM metallopeptidase with thrombospondin type 1 motif, 13
  • AGT: angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
  • AGTR1: angiotensin II receptor, type 1
  • AKT1: v-akt murine thymoma viral oncogene homolog 1
  • ALAS2: aminolevulinate, delta-, synthase 2
  • ALDH5A1: aldehyde dehydrogenase 5 family, member A1
  • ALOX12B: arachidonate 12-lipoxygenase, 12R type
  • ALOXE3: arachidonate lipoxygenase 3
  • ALS2: amyotrophic lateral sclerosis 2 (juvenile)
  • AMELX: amelogenin, X-linked
  • ANG: angiogenin, ribonuclease, RNase A family, 5
  • ANK2: ankyrin 2, neuronal
  • APC: adenomatous polyposis coli
  • APOA1: apolipoprotein A-I
  • APOB: apolipoprotein B
  • APOE: apolipoprotein E
  • APP: amyloid beta (A4) precursor protein
  • APTX: aprataxin
  • ARMS2: age-related maculopathy susceptibility 2
  • ATP2A1: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
  • ATP2A2: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
  • ATP2B2: ATPase, Ca++ transporting, plasma membrane 2
  • ATP2C1: ATPase, Ca++ transporting, type 2C, member 1
  • ATP6V0A2: ATPase, H+ transporting, lysosomal V0 subunit a2
  • ATP6V0A4: ATPase, H+ transporting, lysosomal V0 subunit a4
  • ATP6V1B1: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
  • ATP7A: ATPase, Cu++ transporting, alpha polypeptide
  • ATP7B: ATPase, Cu++ transporting, beta polypeptide
  • ATP8B1: ATPase, aminophospholipid transporter, class I, type 8B, member 1
  • ATRX: alpha thalassemia/mental retardation syndrome X-linked
  • AVPR2: arginine vasopressin receptor 2
  • BARD1: BRCA1 associated RING domain 1
  • BBS1: Bardet-Biedl syndrome 1
  • BBS10: Bardet-Biedl syndrome 10
  • BDNF: brain-derived neurotrophic factor
  • BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
  • BSCL2: Berardinelli-Seip congenital lipodystrophy 2 (seipin)
  • C3: complement component 3
  • CACNA1A: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
  • CACNA1C: calcium channel, voltage-dependent, L type, alpha 1C subunit
  • CACNA1F: calcium channel, voltage-dependent, L type, alpha 1F subunit
  • CACNA1S: calcium channel, voltage-dependent, L type, alpha 1S subunit
  • CACNB4: calcium channel, voltage-dependent, beta 4 subunit
  • CAPN3: calpain 3, (p94)
  • CASQ2: calsequestrin 2 (cardiac muscle)
  • CASR: calcium-sensing receptor
  • CATSPER1: cation channel, sperm associated 1
  • CATSPER2: cation channel, sperm associated 2
  • CAV3: caveolin 3
  • CD40LG: CD40 ligand
  • CDC73: cell division cycle 73
  • CDH23: cadherin-related 23
  • CDKL5: cyclin-dependent kinase-like 5
  • CFTR: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
  • CHAT: choline O-acetyltransferase
  • CHD7: chromodomain helicase DNA binding protein 7
  • CHEK2: checkpoint kinase 2
  • CHRNA4: cholinergic receptor, nicotinic, alpha 4 (neuronal)
  • CHRNB2: cholinergic receptor, nicotinic, beta 2 (neuronal)
  • CLN3: ceroid-lipofuscinosis, neuronal 3
  • CLN5: ceroid-lipofuscinosis, neuronal 5
  • CLN6: ceroid-lipofuscinosis, neuronal 6, late infantile, variant
  • CLRN1: clarin 1
  • CNGA3: cyclic nucleotide gated channel alpha 3
  • CNGB3: cyclic nucleotide gated channel beta 3
  • COCH: cochlin
  • COL1A1: collagen, type I, alpha 1
  • COL1A2: collagen, type I, alpha 2
  • COL3A1: collagen, type III, alpha 1
  • COLQ: collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
  • COMT: catechol-O-methyltransferase
  • CP: ceruloplasmin (ferroxidase)
  • CPS1: carbamoyl-phosphate synthase 1, mitochondrial
  • CREBBP: CREB binding protein
  • CRTAP: cartilage associated protein
  • CSF1R: colony stimulating factor 1 receptor
  • CTC1: CTS telomere maintenance complex component 1
  • CTNNB1: catenin (cadherin-associated protein), beta 1, 88kDa
  • CUBN: cubilin (intrinsic factor-cobalamin receptor)
  • CYP11B1: cytochrome P450, family 11, subfamily B, polypeptide 1
  • CYP11B2: cytochrome P450, family 11, subfamily B, polypeptide 2
  • CYP19A1: cytochrome P450, family 19, subfamily A, polypeptide 1
  • CYP1B1: cytochrome P450, family 1, subfamily B, polypeptide 1
  • CYP21A2: cytochrome P450, family 21, subfamily A, polypeptide 2
  • DFNB31: deafness, autosomal recessive 31
  • DICER1: dicer 1, ribonuclease type III
  • DKC1: dyskeratosis congenita 1, dyskerin
  • DMD: dystrophin
  • DMPK: dystrophia myotonica-protein kinase
  • DNAJC5: DnaJ (Hsp40) homolog, subfamily C, member 5
  • DOCK6: dedicator of cytokinesis 6
  • DRD3: dopamine receptor D3
  • DRD5: dopamine receptor D5
  • EDN3: endothelin 3
  • EDNRB: endothelin receptor type B
  • EGLN1: egl-9 family hypoxia-inducible factor 1
  • EGR2: early growth response 2
  • 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
  • ELANE: elastase, neutrophil expressed
  • ENG: endoglin
  • EP300: E1A binding protein p300
  • ERAP1: endoplasmic reticulum aminopeptidase 1
  • F12: coagulation factor XII (Hageman factor)
  • F2: coagulation factor II (thrombin)
  • F5: coagulation factor V (proaccelerin, labile factor)
  • F8: coagulation factor VIII, procoagulant component
  • F9: coagulation factor IX
  • FBN1: fibrillin 1
  • FBN2: fibrillin 2
  • FGA: fibrinogen alpha chain
  • FGB: fibrinogen beta chain
  • FGD1: FYVE, RhoGEF and PH domain containing 1
  • FGD4: FYVE, RhoGEF and PH domain containing 4
  • FGF10: fibroblast growth factor 10
  • FGF23: fibroblast growth factor 23
  • FGFR4: fibroblast growth factor receptor 4
  • FGG: fibrinogen gamma chain
  • FLCN: folliculin
  • FLI1: Fli-1 proto-oncogene, ETS transcription factor
  • FLNA: filamin A, alpha
  • FLNB: filamin B, beta
  • FLT3: fms-related tyrosine kinase 3
  • FOXC2: forkhead box C2 (MFH-1, mesenchyme forkhead 1)
  • FOXP3: forkhead box P3
  • FTL: ferritin, light polypeptide
  • FXN: frataxin
  • FZD4: frizzled class receptor 4
  • G6PC: glucose-6-phosphatase, catalytic subunit
  • G6PD: glucose-6-phosphate dehydrogenase
  • GAA: glucosidase, alpha; acid
  • GATA1: GATA binding protein 1 (globin transcription factor 1)
  • GCH1: GTP cyclohydrolase 1
  • GHRHR: growth hormone releasing hormone receptor
  • GJA1: gap junction protein, alpha 1, 43kDa
  • GLRA1: glycine receptor, alpha 1
  • GNAI3: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
  • GNAS: GNAS complex locus
  • GPI: glucose-6-phosphate isomerase
  • GPR98: G protein-coupled receptor 98
  • GSN: gelsolin
  • HAX1: HCLS1 associated protein X-1
  • HBB: hemoglobin, beta
  • HCN4: hyperpolarization activated cyclic nucleotide-gated potassium channel 4
  • HFE: hemochromatosis
  • HFE2: hemochromatosis type 2 (juvenile)
  • HRAS: Harvey rat sarcoma viral oncogene homolog
  • HSD17B3: hydroxysteroid (17-beta) dehydrogenase 3
  • HSD17B4: hydroxysteroid (17-beta) dehydrogenase 4
  • HSD3B2: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
  • HSPB1: heat shock 27kDa protein 1
  • IGF2: insulin-like growth factor 2 (somatomedin A)
  • INS: insulin
  • ITGA6: integrin, alpha 6
  • ITGB2: integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
  • JAK2: Janus kinase 2
  • JPH3: junctophilin 3
  • KCNE1: potassium voltage-gated channel, Isk-related family, member 1
  • KCNE2: potassium voltage-gated channel, Isk-related family, member 2
  • KCNH2: potassium voltage-gated channel, subfamily H (eag-related), member 2
  • KCNJ11: potassium inwardly-rectifying channel, subfamily J, member 11
  • KCNJ2: potassium inwardly-rectifying channel, subfamily J, member 2
  • KCNQ1: potassium voltage-gated channel, KQT-like subfamily, member 1
  • KIT: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
  • KLKB1: kallikrein B, plasma (Fletcher factor) 1
  • KRAS: Kirsten rat sarcoma viral oncogene homolog
  • KRIT1: KRIT1, ankyrin repeat containing
  • KRT1: keratin 1
  • L1CAM: L1 cell adhesion molecule
  • LAMP2: lysosomal-associated membrane protein 2
  • LARGE: like-glycosyltransferase
  • LCAT: lecithin-cholesterol acyltransferase
  • LDLR: low density lipoprotein receptor
  • LDLRAP1: low density lipoprotein receptor adaptor protein 1
  • LEPRE1: leucine proline-enriched proteoglycan (leprecan) 1
  • LIMK1: LIM domain kinase 1
  • LPL: lipoprotein lipase
  • LRP5: low density lipoprotein receptor-related protein 5
  • LRRK2: leucine-rich repeat kinase 2
  • MAPT: microtubule-associated protein tau
  • MCOLN1: mucolipin 1
  • MEGF8: multiple EGF-like-domains 8
  • MFN2: mitofusin 2
  • MKKS: McKusick-Kaufman syndrome
  • MPL: myeloproliferative leukemia virus oncogene
  • MPV17: MpV17 mitochondrial inner membrane protein
  • MSX1: msh homeobox 1
  • MTMR2: myotubularin related protein 2
  • MYH6: myosin, heavy chain 6, cardiac muscle, alpha
  • MYH7: myosin, heavy chain 7, cardiac muscle, beta
  • MYH9: myosin, heavy chain 9, non-muscle
  • MYOC: myocilin, trabecular meshwork inducible glucocorticoid response
  • NBN: nibrin
  • NEB: nebulin
  • NF1: neurofibromin 1
  • NFKBIA: nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
  • NGF: nerve growth factor (beta polypeptide)
  • NLRP12: NLR family, pyrin domain containing 12
  • NOD2: nucleotide-binding oligomerization domain containing 2
  • NPC1: Niemann-Pick disease, type C1
  • NPC2: Niemann-Pick disease, type C2
  • NRAS: neuroblastoma RAS viral (v-ras) oncogene homolog
  • OTC: ornithine carbamoyltransferase
  • OTOF: otoferlin
  • PABPN1: poly(A) binding protein, nuclear 1
  • PAH: phenylalanine hydroxylase
  • PARK2: parkin RBR E3 ubiquitin protein ligase
  • PARK7: parkinson protein 7
  • PAX2: paired box 2
  • PAX6: paired box 6
  • PAX8: paired box 8
  • PCDH15: protocadherin-related 15
  • PCSK9: proprotein convertase subtilisin/kexin type 9
  • PDE6B: phosphodiesterase 6B, cGMP-specific, rod, beta
  • PDGFB: platelet-derived growth factor beta polypeptide
  • PDGFRA: platelet-derived growth factor receptor, alpha polypeptide
  • PFKM: phosphofructokinase, muscle
  • PIK3CA: phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
  • PIK3R1: phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
  • PKD1: polycystic kidney disease 1 (autosomal dominant)
  • PKD2: polycystic kidney disease 2 (autosomal dominant)
  • PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive)
  • PKP2: plakophilin 2
  • PLG: plasminogen
  • PLP1: proteolipid protein 1
  • PML: promyelocytic leukemia
  • PNPLA2: patatin-like phospholipase domain containing 2
  • POMC: proopiomelanocortin
  • PPT1: palmitoyl-protein thioesterase 1
  • PRKAR1A: protein kinase, cAMP-dependent, regulatory, type I, alpha
  • PRNP: prion protein
  • PROC: protein C (inactivator of coagulation factors Va and VIIIa)
  • PROK2: prokineticin 2
  • PROS1: protein S (alpha)
  • PRX: periaxin
  • PSAP: prosaposin
  • PSEN1: presenilin 1
  • PTEN: phosphatase and tensin homolog
  • PTPN11: protein tyrosine phosphatase, non-receptor type 11
  • PYGL: phosphorylase, glycogen, liver
  • RAB7A: RAB7A, member RAS oncogene family
  • RAD50: RAD50 homolog (S. cerevisiae)
  • RAF1: Raf-1 proto-oncogene, serine/threonine kinase
  • RASA1: RAS p21 protein activator (GTPase activating protein) 1
  • RB1: retinoblastoma 1
  • RELN: reelin
  • REN: renin
  • RPE65: retinal pigment epithelium-specific protein 65kDa
  • RPS17: ribosomal protein S17
  • RPS19: ribosomal protein S19
  • RPS24: ribosomal protein S24
  • RYR1: ryanodine receptor 1 (skeletal)
  • RYR2: ryanodine receptor 2 (cardiac)
  • SAA1: serum amyloid A1
  • SBF2: SET binding factor 2
  • SCN10A: sodium channel, voltage-gated, type X, alpha subunit
  • SCN1A: sodium channel, voltage-gated, type I, alpha subunit
  • SCN4A: sodium channel, voltage-gated, type IV, alpha subunit
  • SCN5A: sodium channel, voltage-gated, type V, alpha subunit
  • SCN9A: sodium channel, voltage-gated, type IX, alpha subunit
  • SCNN1A: sodium channel, non-voltage-gated 1 alpha subunit
  • SCNN1B: sodium channel, non-voltage-gated 1, beta subunit
  • SCNN1G: sodium channel, non-voltage-gated 1, gamma subunit
  • 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
  • SHANK3: SH3 and multiple ankyrin repeat domains 3
  • SHH: sonic hedgehog
  • SKI: v-ski avian sarcoma viral oncogene homolog
  • SLC1A3: solute carrier family 1 (glial high affinity glutamate transporter), member 3
  • SLC22A5: solute carrier family 22 (organic cation/carnitine transporter), member 5
  • SLC25A4: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
  • SLC26A4: solute carrier family 26 (anion exchanger), member 4
  • SLC2A1: solute carrier family 2 (facilitated glucose transporter), member 1
  • SLC37A4: solute carrier family 37 (glucose-6-phosphate transporter), member 4
  • SLC40A1: solute carrier family 40 (iron-regulated transporter), member 1
  • SLC46A1: solute carrier family 46 (folate transporter), member 1
  • SLC5A5: solute carrier family 5 (sodium/iodide cotransporter), member 5
  • SLC7A7: solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
  • SLC7A9: solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
  • SMAD3: SMAD family member 3
  • 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
  • SNCA: synuclein, alpha (non A4 component of amyloid precursor)
  • SNCAIP: synuclein, alpha interacting protein
  • SOD1: superoxide dismutase 1, soluble
  • SOS1: son of sevenless homolog 1 (Drosophila)
  • SOX9: SRY (sex determining region Y)-box 9
  • SPG20: spastic paraplegia 20 (Troyer syndrome)
  • SRD5A2: steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
  • STAT3: signal transducer and activator of transcription 3 (acute-phase response factor)
  • STK11: serine/threonine kinase 11
  • SYNE1: spectrin repeat containing, nuclear envelope 1
  • TARDBP: TAR DNA binding protein
  • TCIRG1: T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
  • TEK: TEK tyrosine kinase, endothelial
  • TERT: telomerase reverse transcriptase
  • TFAP2B: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
  • TFR2: transferrin receptor 2
  • TG: thyroglobulin
  • TGFB1: transforming growth factor, beta 1
  • THPO: thrombopoietin
  • TINF2: TERF1 (TRF1)-interacting nuclear factor 2
  • TMPRSS3: transmembrane protease, serine 3
  • TMPRSS6: transmembrane protease, serine 6
  • TNFRSF11A: tumor necrosis factor receptor superfamily, member 11a, NFKB activator
  • TNNI3: troponin I type 3 (cardiac)
  • TOR1A: torsin family 1, member A (torsin A)
  • TP53: tumor protein p53
  • TP63: tumor protein p63
  • TPO: thyroid peroxidase
  • TPP1: tripeptidyl peptidase I
  • TRIOBP: TRIO and F-actin binding protein
  • TRPM1: transient receptor potential cation channel, subfamily M, member 1
  • TRPV4: transient receptor potential cation channel, subfamily V, member 4
  • TSC1: tuberous sclerosis 1
  • TSHB: thyroid stimulating hormone, beta
  • TTN: titin
  • UGT1A1: UDP glucuronosyltransferase 1 family, polypeptide A1
  • USH1C: Usher syndrome 1C (autosomal recessive, severe)
  • USH1G: Usher syndrome 1G (autosomal recessive)
  • USH2A: Usher syndrome 2A (autosomal recessive, mild)
  • VAPB: VAMP (vesicle-associated membrane protein)-associated protein B and C
  • VHL: von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
  • VWF: von Willebrand factor
  • WAS: Wiskott-Aldrich syndrome
  • WFS1: Wolfram syndrome 1 (wolframin)
  • WNK4: WNK lysine deficient protein kinase 4
  • WNT4: wingless-type MMTV integration site family, member 4
  • WRN: Werner syndrome, RecQ helicase-like
  • XIAP: X-linked inhibitor of apoptosis
  • YWHAE: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon

Source: Gene Ontology ConsortiumThis link leads to a site outside Genetics Home Reference..

 
Published: July 21, 2014