gen symboler og fulde navne
abca12: ATP-bindende kassette, sub-familie en (abc1), medlem 12 abcc6: ATP-bindende kassette, sub-familie c (CFTR / MRP), medlem 6 abcd1: ATP-bindende kassette, sub-familien d (ALD) , del 1 acadm: acyl-coenzym A-dehydrogenase, C-4 til C-12 ligekdet acadvl: acyl-coenzym A-dehydrogenase, meget lang kde acat1: acetyl-coenzym A acetyltransferase 1 (acetoacetyl-coenzym A thiolase) actg1: actin, gamma 1 acvrl1: activin en receptor type II-lignende 1 adamts13: Adam metallopeptidase med thrombospondin type 1 motiv, 13 adamts2: Adam metallopeptidase med thrombospondin type 1 motiv, 2 agxt: alanin-glyoxylat aminotransferase (oxalose i, hyperoxaluri I glycolicaciduria, serin- pyruvat-aminotransferase) ALAD: aminolevulinat, delta-, dehydratase alas1: aminolevulinat, delta-,-syntase en alas2: aminolevulinat, delta-, synthase 2 (sideroblastisk / hypochromic anmi) alms1: alstrom syndrom 1 als2: amyotrof lateral sklerose 2 (juvenil) amelx : amelogenin (amelogenesis imperfecta 1, X-bundet) ank2: ankyrin 2, neuroneal APC: adenomatosis polyposis coli ApoE: apolipoprotein E app: amyloid beta (A4) precursorprotein (peptidase nexin-II, Alzheimers sygdom) ar: androgen-receptor (dihydrotestosteron receptor, testikulr feminisering, spinal og bulbar muskelatrofi; Kennedy sygdom) ASL: argininosuccinate lyase ASPA: aspartoacylase (Canavan sygdom) rv: argininosuccinate syntetase atm: ataksi telangiectasia muteret (inkluderer komplementeringsgrupper grupper a, c og d) atp7a: ATPase, cu + + transport , alfa-polypeptid (Menkes syndrom) atp7b: ATPase, Cu + + transportretning, beta-polypeptid AUH: au RNA-bindende protein / enoyl-coenzym A-hydratase bckdha: forgrenet keto-syre-dehydrogenase e1, alpha-polypeptid bckdhb: forgrenet keto-syre-dehydrogenase e1, p-polypeptid (ahornsirup urin sygdom) bmpr2: knoglemorfogenetisk protein receptor, type II (serin / threonin-kinase) BRCA1: brystkrft en tidlig indtrden BRCA2: brystkrft 2, tidlig indtrden bscl2: bernardinelli-Seip medfdt lipodystrofi 2 (seipin) Btd: biotinidase card15: caspase rekruttering domne familien element 15 CBS: cystathionin-p-synthase ccm2: cerebral hule misdannelse 2 CDH23: cadherin-lignende 23 cdkl5: cyclinafhngige kinase-lignende 5 CFTR: cystisk fibrose transmembran konduktans regulator, ATP-bindende kassette (sub-familie c, medlem 7) chek2: chk2 checkpoint homolog (S. pombe) cldn14: claudin 14 cnga3: cyklisk nukleotid gated kanal alpha 3 cngb3: cyklisk nukleotid gated kanal beta 3 Coch: koagulationsfaktor C homolog, cochlin (Limulus polyphemus ) col11a1: kollagen, type xi, alfa 1 col11a2: kollagen, type xi, alpha 2 COL1A1: kollagen, type I, alfa 1 COL1A2: kollagen, type I, alpha 2 COL2A1: kollagen, type II-, alfa 1 (primr slidgigt, spondyloepiphyseal dysplasi, medfdt) col3a1: collagen, type III, alpha 1 (Ehlers-Danlos syndrom type IV, autosomal dominant) col4a3: collagen, type IV, alpha 3 (Goodpasture antigen) col4a4: collagen, type IV, alpha 4 col4a5: collagen , type IV, alpha 5 (Alport syndrom) col5a1: kollagen, type V, alfa 1 col5a2: kollagen, type V, alpha 2 cpox: coproporphyrinogen oxidase cpt1a: carnitinpalmitoyltransferase 1a (lever) cpt2: carnitinpalmitoyltransferase ii crebbp: CREB bindende protein (Rubinstein-taybi syndrom) ctns: cystinose, nefropatisk cyln2: cytoplasmatisk linker 2 CYP1B1: cytokrom P450, familie 1, subfamily b, polypeptid 1 cyp21a2: cytokrom P450, familie 21, subfamily en, polypeptid 2 DBT: dihydrolipoamidacetyltransferaserne forgrenede transacylase e2 dfna5 : dvhed, autosomal dominant 5 dhcr7: 7-dehydrocholesterol-reduktase diras3: diras familien GTP-bindende ras-lignende tre DLD: dihydrolipoamidacetyltransferaserne dehydrogenase (e3 komponent pyruvatdehydrogenase kompleks, 2-oxo-glutarat kompleks forgrenet keto-syre-dehydrogenase-kompleks) DMD: dystrophin (muskelsvind, Duchenne og Becker typer) dmpk: dystrophia myotonica-protein kinase dnm2: dynamin 2 dspp: dentin sialophosphoprotein edn3: endothelin 3 ednrb: endothelinreceptor type b egr2: tidlig vkst svar 2 (krox-20 homolog, Drosophila ) ELN: elastin (supravalvulr aortastenose, Williams-Beuren syndrom) enam: enamelin eng: endoglin (Osler-rendu-Weber syndrom 1) ep300: E1A protein p300 ErbB2: v-erb-B2 erythroblastic leukmi virus onkogen homolog 2, neuro / glioblastoma afledt onkogen homolog (avir) ercc6: excision reparation tvrs-komplementerende gnaver reparation mangel komplementering gruppe 6 ercc8: excision reparation tvrs-komplementerende gnaver reparation mangel komplementering gruppe 8 ESPN: Espin etfa: elektron-overfrsel-flavoprotein, alpha-polypeptid ( glutarsyre aciduri ii) etfb: elektron-transfer-flavoprotein, beta polypeptid etfdh: elektron-overfrende-flavoprotein dehydrogenase EVC: Ellis van Creveld syndrom evc2: Ellis van Creveld syndrom 2 (limbin) eya4: jne fravrende homolog 4 (Drosophila) F5: koagulation faktor V (proaccelerin, labil faktor) F8: koagulationsfaktor VIII, prokoagulant komponent (hmofili A) F9: koagulationsfaktor IX (plasma thromboplastic komponent Christmas-sygdom, hmofili B) fah: fumarylacetoacetate hydrolase (fumarylacetoacetase) fbn1: fibrillin en fech: ferrochelatase (protoporphyria) FGFR1: fibroblastvkstfaktorreceptor 1 (fms-relateret tyrosinkinase 2, Pfeiffer syndrom) FGFR2: fibroblastvkstfaktor-receptor 2 (bakterie-udtrykt kinase, keratinocytvkstfaktor receptor, kraniofaciale dysostosis 1, crouzon syndrom, Pfeiffer syndrom, Jackson -Weiss syndrom) FGFR3: fibroblastvkstfaktor-receptor 3 (achondroplasi, thanatophoric dvrgvkst) FGFR4: fibroblastvkstfaktorreceptor 4 fgfrl1: fibroblastvkstfaktor-receptor-lignende en flcn: folliculin fmo3: flavin indeholdende monooxygenase 3 FMR1: fragilt X mental retardering en fxn : frataxin G6PD: glucose-6-fosfat dehydrogenase GalC: galactosylceramidase gale: UDP-galactose-4-epimerase galk1: galactokinase 1 Galt: galactose-1-fosfat uridylyltransferase gan: kmpe aksonal neuropati (gigaxonin) Gars: glycyl-tRNA syntetase GBA: glucosidase, beta; syre (herunder glucosylceramidase) gcdh: glutaryl-coenzym A-dehydrogenase gch1: GTP cyclohydrolase 1 (dopa-responsive dystoni) gdap1: gangliosid-induceret differentiering-associeret protein en GFAP: glial fibrillrt surt protein gjb1: gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropati, X-linked) gjb2: gap junction protein, beta 2, 26 kDa (connexin 26) gjb3: gap junction protein, beta 3, 31kda (connexin 31) gjb6: gap junctions protein, beta 6 (connexin 30) GLA: galactosidase, a gli3: gli-kruppel familiemedlem gli3 (Greig cephalopolysyndactyly syndrom) gm2a: GM2-gangliosid aktivator gnat2: guaninnukleotid bindende protein (g protein), alpha transducerende aktivitet polypeptid 2 grhpr: glyoxylat reduktase / hydroxypyruvate reduktase gtf2i: Generelt transskription faktor II, i gtf2ird1: gtf2i gentag domnenavn indeholdende 1 hadha: hydroxyacyl-coenzym A dehydrogenase/3-ketoacyl-coenzyme en thiolase / enoyl-coenzym A hydratase (trifunktionel protein), alpha-subunit hadhb: hydroxyacyl -coenzym A dehydrogenase/3-ketoacyl-coenzyme en thiolase / enoyl-coenzym A-hydratase (trifunktionel protein), beta-underenhed hamp: hepcidin antimikrobielt peptid HBB: hmoglobin, beta HD: huntingtin (Huntingtons sygdom) hexa: hexosaminidase A (a polypeptid) hexb: hexosaminidase b (beta-polypeptid) HFE: hmochromatose hfe2: hmochromatose type 2 (juvenil) HGD: homogentisate 1,2-dioxygenase (homogentisate oxidase) HLA-B: major histocompatibility complex, klasse I, B hlcs: holocarboxylase syntetase (biotin- (propionyl-coenzym A-carboxylase (ATP-hydrolyserende))-ligase) hmbs: hydroxymethylbilane synthase hmgcl: 3-hydroxymethyl-3-methylglutaryl-coenzym A lyase (hydroxymethylglutaricaciduria) HPD: 4-hydroxyfenylpyruvatdioxygenase hprt1: hypoxanthin-phosphoribosyltransferase 1 (Lesch-Nyhan syndrom) hras: v-Ha-ras Harvey rotte sarcoma virus onkogen homolog hspb1: varmeshockprotein 27kda protein 1 ikbkap: inhibitor af kappa let polypeptidgen enhanceren i B-celler, kinase-kompleks-associeret protein ikbkg: inhibitor af kappa let polypeptidgen enhancer i B-celler, kinase gamma il2rg: interleukin 2-receptor, gamma (svr kombineret immundefekt) IVD: isovaleryl-coenzym A-dehydrogenase jag1: takkede 1 (alagille syndrom) KCNE1: kalium spndingsstyret kanal ISK-beslgtet familie, del 1. kcne2: kalium spndingsstyret kanal, ISK-relaterede familie, medlem 2 kcnh2: kalium spndingsstyret kanal, underfamilie h (EAG-relateret), medlem 2 kcnj2: kalium indadtil-rektifikation kanal, underfamilie j, medlem 2 KCNQ1: kalium spndingsstyret kanal, KQT-lignende underfamilie, medlem 1 kcnq4: kalium spndingsstyret kanal, KQT-lignende underfamilie, medlem 4 kif1b: kinesin familiemedlem 1b krit1: krit1, ankyrin gentag indeholder limk1: Lim domnenavn kinase 1 litaf: lipopolysaccharid-induceret TNF-faktor lmna: lamin A / C LPL: lipoprotein lipase LRRK2: leucinrige repeat kinase 2 mass1: monogeniske, audiogene anfald flsomhed en homolog (mus) MC1R: melanocortin 1 receptor (alfa melanocytstimulerende hormon-receptor) mccc1: methylcrotonoyl-coenzym A-carboxylase en (alfa) mccc2: methylcrotonoyl-coenzym A carboxylase 2 (beta) MeCP2: methyl cpg bindende protein 2 (Rett syndrom) mefv: Middelhavet feber men1: multipel endokrin neoplasi i mfn2: mitofusin 2 MITF: microphthalmia-associeret transskription faktor MLH1: mutL homolog 1, coloncancer, nonpolyposis type 2 (E. coli) mlycd: malonyl-CoA decarboxylase mmaa: methylmalonic aciduri (cobalaminmangel) cbla typen mmab: methylmalonic aciduri (cobalaminmangel) cblb typen mmp20: matrix metallopeptidase 20 (enamelysin) MPZ: myelin protein nul (Charcot-Marie-Tooth neuropati 1b) MSH2: mutS homolog 2, coloncancer, nonpolyposis type 1 (E. coli) msh6: mutS homolog 6 (E. coli) MTHFR: 5,10-methylentetrahydrofolat-reduktase (NADPH) mtmr2 : myotubularin beslgtet protein 2 meter: 5-methyltetrahydrofolate-homocystein methyltransferase mtrr: 5-methyltetrahydrofolate-homocystein methyltransferase reduktase mut: methylmalonyl-coenzym A-mutase mutyh: mutY homolog (E. coli) myo15a: myosin XVa myo1a: myosin ia myo6: myosin vi myo7a : myosin VIIa myoc: myocilin, trabekelvrket inducerbare glukokortikoid svar NDP: Norrie sygdom (pseudoglioma) ndrg1: N-myc nedstrms reguleret gen 1 nef3: neurofilamentpromotoren 3 (150kda medium) nefh: neurofilament, tung polypeptid 200kda nefl: neurofilament, lys polypeptid 68kda NF1: neurofibromin 1 (neurofibromatosis, von Recklinghausen sygdom, Watson sygdom) NF2: neurofibromin 2 (bilateral akustisk neuroma) nipbl: nappede-b homolog (Drosophila) notch3: notch homolog 3 (Drosophila) npc1: Niemann-Picks sygdom, type C1 npc2 : Niemann-Picks sygdom, type C2 nr0b1: nuklear receptor underfamilie 0, gruppe b, medlem 1 nr4a2: nuklear receptor underfamilie 4, gruppe A, del 2 oca2: oculocutaneous albinisme ii (pink jne fortynding homolog, mus) opa3: opticusatrofi 3 (autosomal recessiv, med chorea og spastisk paraplegi) opn1lw: opsin 1 (kegle pigmenter), lang-blge-flsomme (farveblindhed, Protan) opn1mw: opsin 1 (kegle pigmenter), medium-blge-flsomme (farveblindhed, deutan ) opn1sw: opsin 1 (kegle pigmenter), kortblge-flsomme (farveblindhed, Tritan) otof: otoferlin PAH: phenylalaninhydroxylase pank2: pantothenat kinase 2 (Hallervorden-Spatz syndrom) park2: Parkinsons sygdom (autosomal recessiv, juvenil) 2 , Parkin park7: Parkinsons sygdom (autosomal recessiv, tidlig indtrden) 7 pax3: parrede box-gen 3 (Waardenburg syndrom 1) pax8: parrede box-genet 8 pcbd1: pterin-4 a-carbinolamin dehydratase / dimerisering cofaktor af hepatocyt nuklear faktor 1 alfa ( tcf1) pcca: propionyl-coenzym A-carboxylase, alpha-polypeptid PCCB: propionyl-coenzym A-carboxylase, beta-polypeptid pcdh15: protocadherin 15 pdcd10: programmeret celledd 10 pink1: PTEN induceret putative kinase en pKD1: polycystisk nyresygdom 1 (autosomal dominant) pkd2: polycystisk nyresygdom 2 (autosomal dominant) pkhd1: polycystisk nyresygdom og leversygdomme 1 (autosomal recessiv) plod1: procollagen-lysin 1, 2-oxoglutarat 5-dioxygenase en PMP22: perifere myelinprotein 22 pms2: pms2 postmeiotic adskillelse steg 2 (S. cerevisiae ) pou3f4: pou domne, klasse 3, transskription faktor 4 ppox: protoporphyrinogen oxidase ppp1r12a: protein fosfatase 1, lovgivningsmssige (inhibitor) underenhed 12a prnp: prion protein (p27-30) (Creutzfeldt-Jakobs sygdom, Gerstmann-strausler-Scheinkers syndrom, fatal familir insomnia) PRX: periaxin psen1: presenilin 1 (Alzheimers sygdom 3) psen2: presenilin-2 (Alzheimers sygdom 4) PTEN: phosphatase og tensin homolog (muteret i flere avancerede cancertyper 1) ptpn11: protein-tyrosin-phosphatase, non-receptor type 11 (Noonan syndrom 1) PTS: 6-pyruvoyltetrahydropterin syntase qdpr: quinoid dihydropteridine reduktase rab7: rab7, medlem ras-onkogen familie rad51: rad51 homolog (RecA homolog, e coli.) (S. cerevisiae) rai1: retinsyreinduceret 1 RB1: retinoblastom 1 (herunder osteosarkom) RDS: retinal degeneration, langsom RET: RET proto-oncogen (multipel endokrin neoplasi og medullrt thyreoideakarcinom 1, Hirschsprungske sygdom) rps6ka3: ribosomalt protein S6 kinase, 90kda, polypeptid 3 saa1: serumamyloid a1 sbf2: st bindende faktor 2 scn5a: natrium-kanal, spnding-gated, type V, alpha (langt QT-syndrom 3) serpina1: serpin peptidase hmmer, clade en (alfa-1 antiproteinase, antitrypsin), medlem 1 setx: senataxin sh3tc2: SH3 domne og tetratricopeptide gentager 2 Shox: kort statur homeobox slc22a5: oplst luftfartsselskab familie 22 (organisk kation transporter), medlem 5 slc25a13: oplst luftfartsselskab familiemedlem 25, medlem 13 (citrin) slc25a20: oplst luftfartsselskab familie 25 (carnitin / acylcarnitin translocase), 20, slc26a2: oplst luftfartsselskab familie 26 (sulfat transporter), medlem 2 slc26a4: oplst luftfartsselskab familiemedlem 26, medlem 4 slc3a1: oplst luftfartsselskab familie 3 (cystin, dibasisk og neutrale aminosyrer transportrer, aktivator af cystin, dibasisk og neutral aminosyre transport), medlem 1 slc40a1 : oplst luftfartsselskab familie 40 (jern-regulerede transporter), medlem 1 slc45a2: oplst luftfartsselskab familiemedlem 45, medlem 2 slc5a5: oplst luftfartsselskab familie 5 (natriumjodid symporteren), medlem 5 slc7a9: oplst luftfartsselskab familien 7 (kationiske aminosyre transporteren, y + system), medlem 9 slitrk1: slids og ntrk-lignende familie, medlem 1 Smad4: smad, mdre mod DPP homolog 4 (Drosophila) smn1: overlevelse motor neuronsygdomme 1, telomerisk smn2: overlevelse motor neuronsygdomme 2, centromerisk smpd1: sphingomyelin phosphodiesterase 1, syre lysosomal (sur sphingomyelinase) snai2: sneglen homolog 2 (Drosophila) SNCA: synuclein, alpha (ikke a4 komponent amyloid precursor) sncaip: synuclein, alpha interagerende protein (synphilin) SOD1: superoxiddismutase en oplselig (amyotrofisk lateral sclerose 1 (voksen)) sox10: SRY (kn bestemmende region y)-boks 10 stk11: serin / threonin-kinase 11 strc: stereocilin tat: tyrosin-aminotransferase taz: tafazzin (cardiomyopati, forstrrede 3a (x-bundet); endokardiale fibroelastosis 2; Barth syndrom) tbx1: t-box 1 tcof1: Treacher Collins-franceschetti syndrom 1 tecta: tectorin alpha tfr2: transferrin receptor 2 tg: thyroglobulin TMC1: transmembrane kanal-lignende 1 tmie: transmembrane indre re tmprss3: transmembrane protease, serin 3 tnxb: tenascin XB TP53: tumor protein p53 (Li-Fraumeni-syndrom) TPO: skjoldbruskkirtlen peroxidase tsc1: knolde sklerose en tsc2: knolde sklerose 2 TSHp: thyroidstimulerende hormon, beta tshr: thyroidstimulerende hormonreceptor Tyr: tyrosinase (oculocutaneous albinisme IA) tyrp1: tyrosinase -relateret protein 1 ube3a: ubiquitin-protein-ligase E3A (human papillomavirus E6-associeret protein, Angelman syndrom) uchl1: ubiquitin carboxylterminale esterase L1 (ubiquitin thiolesterase) urod: uroporphyrinogen decarboxylase uros: uroporphyrinogen iii synthase (medfdt erythropoietisk porphyria) USH1C: Usher syndrom 1c (autosomal recessiv, svr) ush1g: Usher syndrom 1g (autosomal recessiv) ush2a: Usher syndrom 2a (autosomal recessiv, mild) ush3a: Usher syndrom 3a vapb: vamp (vesikel-associeret membranprotein)-associeret protein b og c VHL: von Hippel-Lindau-tumorsuppressor vmd2: vitelliform macular dystrofi 2 (bedst sygdom, bestrophin) wfs1: wolfram syndrom 1 (wolframin) wrn: Werner-syndrom yars: tyrosyl-tRNA-syntetase znf9: zinkfingerproteinet 9 (a cellulrt retroviral nucleicacid binding protein) Medlem 2 kcnj2: kalium indadtil-rektifikation kanal, underfamilie j, medlem 2 KCNQ1: kalium spndingsstyret kanal, KQT-lignende underfamilie, medlem 1 kcnq4: kalium spndingsstyret kanal, KQT-lignende underfamilie, medlem 4 kif1b: kinesin familiemedlem 1b krit1: krit1, ankyrin gentagelse indeholdende limk1: lim domne kinase en litaf: lipopolysaccharid-inducerede TNF faktor lmna: lamin A / C LPL: lipoprotein lipase LRRK2: leucinrige repeat kinase 2 mass1: monogeniske, audiogene anfald flsomhed en homolog (mus ) MC1R: melanocortin 1 receptor (alfa melanocytstimulerende hormon-receptor) mccc1: methylcrotonoyl-coenzym A-carboxylase 1 (alfa) mccc2: methylcrotonoyl-coenzym A-carboxylase 2 (beta) MeCP2: methyl CpG bindende protein 2 (Rett syndrom) mefv: Mediterranean fever men1: multiple endokrine neoplasi i mfn2: mitofusin 2 MITF: microphthalmia-associeret transkriptionsfaktor MLH1: mutL homolog 1, coloncancer, nonpolyposis type 2 (E. coli) mlycd: malonyl-CoA decarboxylase mmaa: methylmalonic aciduri (cobalaminmangel) cbla typen mmab: methylmalonic aciduri (cobalaminmangel) cblb typen mmp20: matrix metallopeptidase 20 (enamelysin) MPZ: myelin-protein nul (Charcot-Marie-Tooth neuropati 1b) MSH2: mutS homolog 2, coloncancer, nonpolyposis type 1 (E. coli) msh6 : mutS homolog 6 (E. coli) MTHFR: 5,10-methylentetrahydrofolat-reduktase (NADPH) mtmr2: myotubularin beslgtet protein 2 meter: 5-methyltetrahydrofolate-homocystein methyltransferase mtrr: 5-methyltetrahydrofolate-homocystein methyltransferase reduktase mut: methylmalonyl-coenzym A-mutase mutyh : mutY homolog (E. coli) myo15a: myosin XVa myo1a: myosin ia myo6: myosin VI myo7a: myosin VIIa myoc: myocilin, trabekelvrket inducerbare glucocorticoid respons NDP: Norrie sygdom (pseudoglioma) ndrg1: N-myc nedstrms reguleret gen 1 nef3 : neurofilament 3 (150kda medium) nefh: neurofilament, tung polypeptid 200kda nefl: neurofilament, let polypeptid 68kda NF1: neurofibromin 1 (neurofibromatosis, von Recklinghausen sygdom, Watson sygdom) NF2: neurofibromin 2 (bilateral akustisk neurom) nipbl: klemt-b homolog (Drosophila) notch3: notch homolog 3 (Drosophila) npc1: Niemann-Picks sygdom, type C1 npc2: Niemann-Picks sygdom, type C2 nr0b1: nuklear receptor underfamilie 0, gruppe b, medlem 1 nr4a2: nuklear receptor underfamilie 4, gruppe A , medlem 2 oca2: oculocutaneous albinisme ii (pink jne fortynding homolog, mus) opa3: opticusatrofi 3 (autosomal recessiv, med chorea og spastisk paraplegi) opn1lw: opsin 1 (kegle pigmenter), lang-blge-flsomme (farveblindhed, Protan) opn1mw: opsin 1 (kegle pigmenter), medium-blge-flsomme (farveblindhed, deutan) opn1sw: opsin 1 (kegle pigmenter), kortblge-flsomme (farveblindhed, Tritan) otof: otoferlin PAH: phenylalanin hydroxylase pank2 : pantothenat kinase 2 (Hallervorden-Spatz syndrom) park2: Parkinsons sygdom (autosomal recessiv, juvenil) 2, Parkin park7: Parkinsons sygdom (autosomal recessiv, tidlig debut) 7 pax3: parrede box genet 3 (Waardenburg syndrom 1) pax8: parrede box gen 8 pcbd1: pterin-4 a-carbinolamin dehydratase / dimerisering cofaktor af hepatocyt nuklear faktor 1 alfa (tcf1) pcca: propionyl-coenzym A-carboxylase, alpha-polypeptid PCCB: propionyl-coenzym A-carboxylase, beta-polypeptid pcdh15: protocadherin 15 pdcd10: programmeret celledd 10 pink1: PTEN induceret putative kinase en pKD1: polycystisk nyresygdom 1 (autosomal dominant) pkd2: polycystisk nyresygdom 2 (autosomal dominant) pkhd1: polycystisk nyresygdom og leversygdomme 1 (autosomal recessiv) plod1: procollagen-lysin 1, 2-oxoglutarat 5-dioxygenase 1 PMP22: perifer myelinprotein 22 pms2: pms2 postmeiotic segregering steget 2 (S. cerevisiae) pou3f4: pou domne, klasse 3, transskription faktor 4 ppox: protoporphyrinogen oxidase ppp1r12a: protein fosfatase 1, lovgivningsmssige (inhibitor) underenhed 12a prnp : prion-protein (p27-30) (Creutzfeldt-Jakobs sygdom, Gerstmann-strausler-Scheinkers syndrom, fatal familir insomnia) PRX: periaxin psen1: presenilin 1 (Alzheimers sygdom 3) psen2: presenilin-2 (Alzheimers sygdom 4) PTEN: phosphatase og tensin homolog (muteret i flere avancerede cancertyper 1) ptpn11: protein-tyrosin-phosphatase, non-receptor type 11 (Noonan syndrom 1) PTS: 6-pyruvoyltetrahydropterin syntase qdpr: quinoid dihydropteridine reduktase rab7: rab7, medlem ras-oncogenet familie rad51: rad51 homolog ( RecA-homolog, E. coli) (S. cerevisiae). rai1: retinsyreinduceret en RB1: retinoblastoma 1 (herunder osteosarcom) RDS: retinal degenerering, langsom retentionstid: retentionstid proto-onkogenet (multiple endokrine neoplasi og medullrt carcinom i skjoldbruskkirtlen 1, Hirschsprung sygdom ) rps6ka3: ribosomalt protein S6 kinase, 90kda, polypeptid 3 saa1: serumamyloid a1 sbf2: faststtelse af bindende faktor 2 scn5a: natrium-kanal, spnding-gated, type V, alpha (langt QT-syndrom 3) serpina1: serpin peptidase hmmer, clade en (alfa-1 antiproteinase, antitrypsin), medlem 1 setx: senataxin sh3tc2: SH3-domnet og tetratricopeptide gentager 2 shox: kort statur homeobox slc22a5: oplst luftfartsselskab familie 22 (organisk kation transporter), medlem 5 slc25a13: oplst luftfartsselskab familie 25, medlem 13 (citrin) slc25a20: oplst luftfartsselskab familie 25 (carnitin / acylcarnitin translocase), 20, slc26a2: oplst luftfartsselskab familie 26 (sulfat transporter), medlem 2 slc26a4: oplst luftfartsselskab familiemedlem 26, medlem 4 slc3a1: oplst luftfartsselskab familie 3 (cystin, dibasisk og neutrale aminosyrer transportrer og aktivator af cystin, dibasisk og neutral aminosyre transport), medlem 1 slc40a1: oplst luftfartsselskab familie 40 (jern-regulerede transporter), medlem 1 slc45a2: oplst luftfartsselskab familie 45, medlem 2 slc5a5: oplst luftfartsselskab familien 5 (natriumjodid symporteren), medlem 5 slc7a9: oplst luftfartsselskab familien 7 (kationiske aminosyre transporteren, y + system), medlem 9 slitrk1: slids og ntrk-lignende familie, medlem 1 Smad4: smad, mdre mod DPP homolog 4 (Drosophila) smn1 : overlevelse motorisk neuronsygdom 1 telomeriske smn2: overlevelse motorisk neuronsygdom 2, centromere smpd1: sphingomyelin phosphodiesterase 1, syre lysosomal (sur sphingomyelinase) snai2: sneglen homolog 2 (Drosophila) SNCA: synuclein, alpha (ikke a4 komponent amyloid precursor) sncaip: synuclein, alpha interagerende protein (synphilin) SOD1: superoxiddismutase en oplselig (amyotrofisk lateral sklerose 1 (voksen)) sox10: SRY (kn bestemmende region y)-boks 10 stk11: serin / threonin-kinase 11 strc: stereocilin tat: tyrosin aminotransferase Taz: tafazzin (kardiomyopati, udvidede 3a (X-linked); endokardiale fibroelastosis 2; Barth syndrom) tbx1: t-box 1 tcof1: Treacher Collins-franceschetti syndrom 1 tecta: tectorin alpha tfr2: transferrin receptor 2 tg: thyroglobulin TMC1 : transmembrane kanal-lignende 1 tmie: transmembrane indre re tmprss3: transmembrane protease, serin 3 tnxb: tenascin xb TP53: tumor protein p53 (Li-Fraumeni syndrom) TPO: skjoldbruskkirtlen peroxidase tsc1: tubers sklerose 1 tsc2: tubers sklerose 2 TSHp: skjoldbruskkirtlen stimulerende hormon, beta tshr: thyroidstimulerende hormonreceptor Tyr: tyrosinase (oculocutaneous albinisme IA) tyrp1: tyrosinase-relateret protein 1 ube3a: ubiquitin-protein-ligase E3A (human papillomavirus E6-associeret protein, Angelman syndrom) uchl1: ubiquitin carboxylterminale esterase L1 (ubiquitin thiolesterase) urod: uroporphyrinogen decarboxylase Uros: uroporphyrinogen iii syntase (medfdt erythropoietiske porfyri) USH1C: Usher syndrom 1c (autosomal recessiv, svr) ush1g: Usher syndrom 1g (autosomal recessiv) ush2a: Usher syndrom 2a (autosomal recessiv, mild) ush3a: Usher-syndrom 3a vapb: vamp (vesikel-associeret membranprotein)-associeret protein b og c VHL: von Hippel-Lindau-tumorsuppressor vmd2: vitelliform macular dystrofi 2 (bedst sygdom, bestrophin) wfs1: wolfram syndrom 1 (wolframin) wrn Werner-syndrom yars: tyrosyl-tRNA-syntetase znf9: zinkfingerproteinet 9 (a cellulrt retroviralt nucleicacid bindende protein) Medlem 2 kcnj2: kalium indadtil-rektifikation kanal, underfamilie j, medlem 2 KCNQ1: kalium spndingsstyret kanal, KQT-lignende underfamilie, medlem 1 kcnq4: kalium spndingsstyret kanal, KQT-lignende underfamilie, medlem 4 kif1b: kinesin familiemedlem 1b krit1: krit1, ankyrin gentagelse indeholdende limk1: lim domne kinase en litaf: lipopolysaccharid-inducerede TNF faktor lmna: lamin A / C LPL: lipoprotein lipase LRRK2: leucinrige repeat kinase 2 mass1: monogeniske, audiogene anfald flsomhed en homolog (mus ) MC1R: melanocortin 1 receptor (alfa melanocytstimulerende hormon-receptor) mccc1: methylcrotonoyl-coenzym A-carboxylase 1 (alfa) mccc2: methylcrotonoyl-coenzym A-carboxylase 2 (beta) MeCP2: methyl CpG bindende protein 2 (Rett syndrom) mefv: Mediterranean fever men1: multiple endokrine neoplasi i mfn2: mitofusin 2 MITF: microphthalmia-associeret transkriptionsfaktor MLH1: mutL homolog 1, coloncancer, nonpolyposis type 2 (E. coli) mlycd: malonyl-CoA decarboxylase mmaa: methylmalonic aciduri (cobalaminmangel) cbla typen mmab: methylmalonic aciduri (cobalaminmangel) cblb typen mmp20: matrix metallopeptidase 20 (enamelysin) MPZ: myelin-protein nul (Charcot-Marie-Tooth neuropati 1b) MSH2: mutS homolog 2, coloncancer, nonpolyposis type 1 (E. coli) msh6 : mutS homolog 6 (E. coli) MTHFR: 5,10-methylentetrahydrofolat-reduktase (NADPH) mtmr2: myotubularin beslgtet protein 2 meter: 5-methyltetrahydrofolate-homocystein methyltransferase mtrr: 5-methyltetrahydrofolate-homocystein methyltransferase reduktase mut: methylmalonyl-coenzym A-mutase mutyh : mutY homolog (E. coli) myo15a: myosin XVa myo1a: myosin ia myo6: myosin VI myo7a: myosin VIIa myoc: myocilin, trabekelvrket inducerbare glucocorticoid respons NDP: Norrie sygdom (pseudoglioma) ndrg1: N-myc nedstrms reguleret gen 1 nef3 : neurofilament 3 (150kda medium) nefh: neurofilament, tung polypeptid 200kda nefl: neurofilament, let polypeptid 68kda NF1: neurofibromin 1 (neurofibromatosis, von Recklinghausen sygdom, Watson sygdom) NF2: neurofibromin 2 (bilateral akustisk neurom) nipbl: klemt-b homolog (Drosophila) notch3: notch homolog 3 (Drosophila) npc1: Niemann-Picks sygdom, type C1 npc2: Niemann-Picks sygdom, type C2 nr0b1: nuklear receptor underfamilie 0, gruppe b, medlem 1 nr4a2: nuklear receptor underfamilie 4, gruppe A , medlem 2 oca2: oculocutaneous albinisme ii (pink jne fortynding homolog, mus) opa3: opticusatrofi 3 (autosomal recessiv, med chorea og spastisk paraplegi) opn1lw: opsin 1 (kegle pigmenter), lang-blge-flsomme (farveblindhed, Protan) opn1mw: opsin 1 (kegle pigmenter), medium-blge-flsomme (farveblindhed, deutan) opn1sw: opsin 1 (kegle pigmenter), kortblge-flsomme (farveblindhed, Tritan) otof: otoferlin PAH: phenylalanin hydroxylase pank2 : pantothenat kinase 2 (Hallervorden-Spatz syndrom) park2: Parkinsons sygdom (autosomal recessiv, juvenil) 2, Parkin park7: Parkinsons sygdom (autosomal recessiv, tidlig debut) 7 pax3: parrede box genet 3 (Waardenburg syndrom 1) pax8: parrede box gen 8 pcbd1: pterin-4 a-carbinolamin dehydratase / dimerisering cofaktor af hepatocyt nuklear faktor 1 alfa (tcf1) pcca: propionyl-coenzym A-carboxylase, alpha-polypeptid PCCB: propionyl-coenzym A-carboxylase, beta-polypeptid pcdh15: protocadherin 15 pdcd10: programmeret celledd 10 pink1: PTEN induceret putative kinase en pKD1: polycystisk nyresygdom 1 (autosomal dominant) pkd2: polycystisk nyresygdom 2 (autosomal dominant) pkhd1: polycystisk nyresygdom og leversygdomme 1 (autosomal recessiv) plod1: procollagen-lysin 1, 2-oxoglutarat 5-dioxygenase 1 PMP22: perifer myelinprotein 22 pms2: pms2 postmeiotic segregering steget 2 (S. cerevisiae) pou3f4: pou domne, klasse 3, transskription faktor 4 ppox: protoporphyrinogen oxidase ppp1r12a: protein fosfatase 1, lovgivningsmssige (inhibitor) underenhed 12a prnp : prion-protein (p27-30) (Creutzfeldt-Jakobs sygdom, Gerstmann-strausler-Scheinkers syndrom, fatal familir insomnia) PRX: periaxin psen1: presenilin 1 (Alzheimers sygdom 3) psen2: presenilin-2 (Alzheimers sygdom 4) PTEN: phosphatase og tensin homolog (muteret i flere avancerede cancertyper 1) ptpn11: protein-tyrosin-phosphatase, non-receptor type 11 (Noonan syndrom 1) PTS: 6-pyruvoyltetrahydropterin syntase qdpr: quinoid dihydropteridine reduktase rab7: rab7, medlem ras-oncogenet familie rad51: rad51 homolog ( RecA-homolog, E. coli) (S. cerevisiae). rai1: retinsyreinduceret en RB1: retinoblastoma 1 (herunder osteosarcom) RDS: retinal degenerering, langsom retentionstid: retentionstid proto-onkogenet (multiple endokrine neoplasi og medullrt carcinom i skjoldbruskkirtlen 1, Hirschsprung sygdom ) rps6ka3: ribosomalt protein S6 kinase, 90kda, polypeptid 3 saa1: serumamyloid a1 sbf2: faststtelse af bindende faktor 2 scn5a: natrium-kanal, spnding-gated, type V, alpha (langt QT-syndrom 3) serpina1: serpin peptidase hmmer, clade en (alfa-1 antiproteinase, antitrypsin), medlem 1 setx: senataxin sh3tc2: SH3-domnet og tetratricopeptide gentager 2 shox: kort statur homeobox slc22a5: oplst luftfartsselskab familie 22 (organisk kation transporter), medlem 5 slc25a13: oplst luftfartsselskab familie 25, medlem 13 (citrin) slc25a20: oplst luftfartsselskab familie 25 (carnitin / acylcarnitin translocase), 20, slc26a2: oplst luftfartsselskab familie 26 (sulfat transporter), medlem 2 slc26a4: oplst luftfartsselskab familiemedlem 26, medlem 4 slc3a1: oplst luftfartsselskab familie 3 (cystin, dibasisk og neutrale aminosyrer transportrer og aktivator af cystin, dibasisk og neutral aminosyre transport), medlem 1 slc40a1: oplst luftfartsselskab familie 40 (jern-regulerede transporter), medlem 1 slc45a2: oplst luftfartsselskab familie 45, medlem 2 slc5a5: oplst luftfartsselskab familien 5 (natriumjodid symporteren), medlem 5 slc7a9: oplst luftfartsselskab familien 7 (kationiske aminosyre transporteren, y + system), medlem 9 slitrk1: slids og ntrk-lignende familie, medlem 1 Smad4: smad, mdre mod DPP homolog 4 (Drosophila) smn1 : overlevelse motorisk neuronsygdom 1 telomeriske smn2: overlevelse motorisk neuronsygdom 2, centromere smpd1: sphingomyelin phosphodiesterase 1, syre lysosomal (sur sphingomyelinase) snai2: sneglen homolog 2 (Drosophila) SNCA: synuclein, alpha (ikke a4 komponent amyloid precursor) sncaip: synuclein, alpha interagerende protein (synphilin) SOD1: superoxiddismutase en oplselig (amyotrofisk lateral sklerose 1 (voksen)) sox10: SRY (kn bestemmende region y)-boks 10 stk11: serin / threonin-kinase 11 strc: stereocilin tat: tyrosin aminotransferase Taz: tafazzin (kardiomyopati, udvidede 3a (X-linked); endokardiale fibroelastosis 2; Barth syndrom) tbx1: t-box 1 tcof1: Treacher Collins-franceschetti syndrom 1 tecta: tectorin alpha tfr2: transferrin receptor 2 tg: thyroglobulin TMC1 : transmembrane kanal-lignende 1 tmie: transmembrane indre re tmprss3: transmembrane protease, serin 3 tnxb: tenascin xb TP53: tumor protein p53 (Li-Fraumeni syndrom) TPO: skjoldbruskkirtlen peroxidase tsc1: tubers sklerose 1 tsc2: tubers sklerose 2 TSHp: skjoldbruskkirtlen stimulerende hormon, beta tshr: thyroidstimulerende hormonreceptor Tyr: tyrosinase (oculocutaneous albinisme IA) tyrp1: tyrosinase-relateret protein 1 ube3a: ubiquitin-protein-ligase E3A (human papillomavirus E6-associeret protein, Angelman syndrom) uchl1: ubiquitin carboxylterminale esterase L1 (ubiquitin thiolesterase) urod: uroporphyrinogen decarboxylase Uros: uroporphyrinogen iii syntase (medfdt erythropoietiske porfyri) USH1C: Usher syndrom 1c (autosomal recessiv, svr) ush1g: Usher syndrom 1g (autosomal recessiv) ush2a: Usher syndrom 2a (autosomal recessiv, mild) ush3a: Usher-syndrom 3a vapb: vamp (vesikel-associeret membranprotein)-associeret protein b og c VHL: von Hippel-Lindau-tumorsuppressor vmd2: vitelliform macular dystrofi 2 (bedst sygdom, bestrophin) wfs1: wolfram syndrom 1 (wolframin) wrn Werner-syndrom yars: tyrosyl-tRNA-syntetase znf9: zinkfingerproteinet 9 (a cellulrt retroviralt nucleicacid bindende protein)Relaterede Sundhed Artikler