Træk
Visual impairment
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Resumé
- Også kaldet
- Impaired vision, Loss of eyesight, Poor vision
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
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Ændringer i disse gener forårsager sjældne tilstande, hvor Visual impairment ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ACO2aconitase 2 | Altid | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Altid | I 2 tilstande |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Altid | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Altid | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Altid | I 2 tilstande |
| ARL6ARF like GTPase 6 | Altid | I 2 tilstande |
| ASPAaspartoacylase | Altid | I 1 tilstand |
| ASPHaspartate beta-hydroxylase | Altid | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Altid | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| CEP290centrosomal protein 290 | Altid | I 4 tilstande |
| CEP78centrosomal protein 78 | Altid | I 1 tilstand |
| CHMCHM Rab escort protein | Altid | I 2 tilstande |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Altid | I 2 tilstande |
| COL18A1collagen type XVIII alpha 1 chain | Altid | I 1 tilstand |
| CRXcone-rod homeobox | Altid | I 3 tilstande |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Altid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altid | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Altid | I 3 tilstande |
| FCSKfucose kinase | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 3 tilstande |
| GRNgranulin precursor | Altid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Altid | I 1 tilstand |
| HARS1histidyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| HKDC1hexokinase domain containing 1 | Altid | I 2 tilstande |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Altid | I 2 tilstande |
| IFT74intraflagellar transport 74 | Altid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Altid | I 1 tilstand |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Altid | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Altid | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Altid | I 2 tilstande |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Altid | I 2 tilstande |
| NAPBNSF attachment protein beta | Altid | I 1 tilstand |
| NCAPG2non-SMC condensin II complex subunit G2 | Altid | I 1 tilstand |
| NLRP1NLR family pyrin domain containing 1 | Altid | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Altid | I 2 tilstande |
| OATornithine aminotransferase | Altid | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Altid | I 4 tilstande |
Vis 560 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Altid | I 3 tilstande |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Altid | I 2 tilstande |
| PAX6paired box 6 | Altid | I 3 tilstande |
| PCDH12protocadherin 12 | Altid | I 1 tilstand |
| PDE6Aphosphodiesterase 6A | Altid | I 2 tilstande |
| PRPF6pre-mRNA processing factor 6 | Altid | I 2 tilstande |
| PRPH2peripherin 2 | Altid | I 6 tilstande |
| RBP3retinol binding protein 3 | Altid | I 2 tilstande |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Altid | I 2 tilstande |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Altid | I 2 tilstande |
| SDHDsuccinate dehydrogenase complex subunit D | Altid | I 1 tilstand |
| SFXN4sideroflexin 4 | Altid | I 1 tilstand |
| SLC24A5solute carrier family 24 member 5 | Altid | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Altid | I 1 tilstand |
| TENM3teneurin transmembrane protein 3 | Altid | I 1 tilstand |
| TGFBItransforming growth factor beta induced | Altid | I 4 tilstande |
| TMEM53transmembrane protein 53 | Altid | I 1 tilstand |
| TMEM63Btransmembrane protein 63B | Altid | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Altid | I 1 tilstand |
| TUBTUB bipartite transcription factor | Altid | I 2 tilstande |
| VPS4Avacuolar protein sorting 4 homolog A | Altid | I 1 tilstand |
| WDR19WD repeat domain 19 | Altid | I 3 tilstande |
| YME1L1YME1 like 1 ATPase | Altid | I 1 tilstand |
| ZFXzinc finger protein X-linked | Altid | I 1 tilstand |
| ABCA4ATP binding cassette subfamily A member 4 | Meget ofte (80–99 %) | I 3 tilstande |
| AGBL5AGBL carboxypeptidase 5 | Meget ofte (80–99 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Meget ofte (80–99 %) | I 2 tilstande |
| AHRaryl hydrocarbon receptor | Meget ofte (80–99 %) | I 1 tilstand |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Meget ofte (80–99 %) | I 1 tilstand |
| ARL2BPARF like GTPase 2 binding protein | Meget ofte (80–99 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Meget ofte (80–99 %) | I 1 tilstand |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Meget ofte (80–99 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Meget ofte (80–99 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Meget ofte (80–99 %) | I 1 tilstand |
| BEST1bestrophin 1 | Meget ofte (80–99 %) | I 4 tilstande |
| CA4carbonic anhydrase 4 | Meget ofte (80–99 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Meget ofte (80–99 %) | I 3 tilstande |
| CDHR1cadherin related family member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CEP164centrosomal protein 164 | Meget ofte (80–99 %) | I 1 tilstand |
| CERKLCERK like autophagy regulator | Meget ofte (80–99 %) | I 2 tilstande |
| CFAP20cilia and flagella associated protein 20 | Meget ofte (80–99 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Meget ofte (80–99 %) | I 2 tilstande |
| CLCN7Cl-/H+ antiporter 7 | Meget ofte (80–99 %) | I 4 tilstande |
| CLN8CLN8 transmembrane ER and ERGIC protein | Meget ofte (80–99 %) | I 1 tilstand |
| CLRN1clarin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Meget ofte (80–99 %) | I 1 tilstand |
| COQ8Bcoenzyme Q8B | Meget ofte (80–99 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Meget ofte (80–99 %) | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Meget ofte (80–99 %) | I 2 tilstande |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Meget ofte (80–99 %) | I 1 tilstand |
| DHX38DEAH-box helicase 38 | Meget ofte (80–99 %) | I 1 tilstand |
| DNM1Ldynamin 1L | Meget ofte (80–99 %) | I 1 tilstand |
| EXOSC8exosome component 8 | Meget ofte (80–99 %) | I 1 tilstand |
| EYSEGF-like photoreceptor maintenance factor | Meget ofte (80–99 %) | I 1 tilstand |
| FAM161AFAM161 centrosomal protein A | Meget ofte (80–99 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| FKRPfukutin related protein | Meget ofte (80–99 %) | I 1 tilstand |
| FKTNfukutin | Meget ofte (80–99 %) | I 2 tilstande |
| FSCN2fascin actin-bundling protein 2, retinal | Meget ofte (80–99 %) | I 2 tilstande |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Meget ofte (80–99 %) | I 2 tilstande |
| GMPPBGDP-mannose pyrophosphorylase B | Meget ofte (80–99 %) | I 1 tilstand |
| GNAT2G protein subunit alpha transducin 2 | Meget ofte (80–99 %) | I 2 tilstande |
| GUCA1Aguanylate cyclase activator 1A | Meget ofte (80–99 %) | I 3 tilstande |
| GUCA1Bguanylate cyclase activator 1B | Meget ofte (80–99 %) | I 2 tilstande |
| HESX1HESX homeobox 1 | Meget ofte (80–99 %) | I 2 tilstande |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Meget ofte (80–99 %) | I 2 tilstande |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Meget ofte (80–99 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Meget ofte (80–99 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Meget ofte (80–99 %) | I 1 tilstand |
| IFT43intraflagellar transport 43 | Meget ofte (80–99 %) | I 1 tilstand |
| IFT54intraflagellar transport 54 | Meget ofte (80–99 %) | I 1 tilstand |
| IFT88intraflagellar transport 88 | Meget ofte (80–99 %) | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Meget ofte (80–99 %) | I 2 tilstande |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Meget ofte (80–99 %) | I 2 tilstande |
| INPP5Einositol polyphosphate-5-phosphatase E | Meget ofte (80–99 %) | I 2 tilstande |
| INVSinversin | Meget ofte (80–99 %) | I 1 tilstand |
| IQCB1IQ motif containing B1 | Meget ofte (80–99 %) | I 1 tilstand |
| KIAA1549KIAA1549 | Meget ofte (80–99 %) | I 1 tilstand |
| KIZkizuna centrosomal protein | Meget ofte (80–99 %) | I 1 tilstand |
| KLHL7kelch like family member 7 | Meget ofte (80–99 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Meget ofte (80–99 %) | I 2 tilstande |
| LSSlanosterol synthase | Meget ofte (80–99 %) | I 1 tilstand |
| MAKmale germ cell associated kinase | Meget ofte (80–99 %) | I 1 tilstand |
| MERTKMER proto-oncogene, tyrosine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Meget ofte (80–99 %) | I 2 tilstande |
| NEK2NIMA related kinase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NHSNHS actin remodeling regulator | Meget ofte (80–99 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NPHP3nephrocystin 3 | Meget ofte (80–99 %) | I 1 tilstand |
| NPHP4nephrocystin 4 | Meget ofte (80–99 %) | I 1 tilstand |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| NRLneural retina leucine zipper | Meget ofte (80–99 %) | I 2 tilstande |
| OFD1OFD1 centriole and centriolar satellite protein | Meget ofte (80–99 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Meget ofte (80–99 %) | I 2 tilstande |
| PCAREphotoreceptor cilium actin regulator | Meget ofte (80–99 %) | I 2 tilstande |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Meget ofte (80–99 %) | I 1 tilstand |
| PDE6Bphosphodiesterase 6B | Meget ofte (80–99 %) | I 1 tilstand |
| PDE6Cphosphodiesterase 6C | Meget ofte (80–99 %) | I 2 tilstande |
| PDE6Gphosphodiesterase 6G | Meget ofte (80–99 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX10peroxisomal biogenesis factor 10 | Meget ofte (80–99 %) | I 4 tilstande |
| PEX11Bperoxisomal biogenesis factor 11 beta | Meget ofte (80–99 %) | I 3 tilstande |
| PEX12peroxisomal biogenesis factor 12 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX13peroxisomal biogenesis factor 13 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX14peroxisomal biogenesis factor 14 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX16peroxisomal biogenesis factor 16 | Meget ofte (80–99 %) | I 4 tilstande |
| PEX19peroxisomal biogenesis factor 19 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX2peroxisomal biogenesis factor 2 | Meget ofte (80–99 %) | I 4 tilstande |
| PEX26peroxisomal biogenesis factor 26 | Meget ofte (80–99 %) | I 4 tilstande |
| PEX3peroxisomal biogenesis factor 3 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX5peroxisomal biogenesis factor 5 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX6peroxisomal biogenesis factor 6 | Meget ofte (80–99 %) | I 4 tilstande |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Meget ofte (80–99 %) | I 2 tilstande |
| POMT1protein O-mannosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Meget ofte (80–99 %) | I 1 tilstand |
| PRCDphotoreceptor disc component | Meget ofte (80–99 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| PROM1prominin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PRPF3pre-mRNA processing factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPF31pre-mRNA processing factor 31 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPF8pre-mRNA processing factor 8 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Meget ofte (80–99 %) | I 1 tilstand |
| REEP6receptor accessory protein 6 | Meget ofte (80–99 %) | I 1 tilstand |
| RGRretinal G protein coupled receptor | Meget ofte (80–99 %) | I 2 tilstande |
| RGS9regulator of G protein signaling 9 | Meget ofte (80–99 %) | I 1 tilstand |
| RGS9BPregulator of G protein signaling 9 binding protein | Meget ofte (80–99 %) | I 1 tilstand |
| RHOrhodopsin | Meget ofte (80–99 %) | I 1 tilstand |
| RLBP1retinaldehyde binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Meget ofte (80–99 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU6-1RNA, U6 small nuclear 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU6-2RNA, U6 small nuclear 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU6-8RNA, U6 small nuclear 8 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU6-9RNA, U6 small nuclear 9 | Meget ofte (80–99 %) | I 1 tilstand |
| ROM1retinal outer segment membrane protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RP1RP1 axonemal microtubule associated | Meget ofte (80–99 %) | I 1 tilstand |
| RP1L1RP1 like 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| RP9RP9 pre-mRNA splicing factor | Meget ofte (80–99 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Meget ofte (80–99 %) | I 3 tilstande |
| RPGRretinitis pigmentosa GTPase regulator | Meget ofte (80–99 %) | I 3 tilstande |
| SAGS-antigen visual arrestin | Meget ofte (80–99 %) | I 3 tilstande |
| SAXO6stabilizer of axonemal microtubules 6 | Meget ofte (80–99 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Meget ofte (80–99 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Meget ofte (80–99 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Meget ofte (80–99 %) | I 3 tilstande |
| SLC38A3solute carrier family 38 member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC4A11solute carrier family 4 member 11 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC7A14solute carrier family 7 member 14 | Meget ofte (80–99 %) | I 1 tilstand |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Meget ofte (80–99 %) | I 2 tilstande |
| SNX10sorting nexin 10 | Meget ofte (80–99 %) | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SOX3SRY-box transcription factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Meget ofte (80–99 %) | I 2 tilstande |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Meget ofte (80–99 %) | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Meget ofte (80–99 %) | I 3 tilstande |
| TMEM216transmembrane protein 216 | Meget ofte (80–99 %) | I 3 tilstande |
| TNFSF11TNF superfamily member 11 | Meget ofte (80–99 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Meget ofte (80–99 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Meget ofte (80–99 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Meget ofte (80–99 %) | I 2 tilstande |
| TULP1TUB like protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| USH2Ausherin | Meget ofte (80–99 %) | I 2 tilstande |
| WACWW domain containing adaptor with coiled-coil | Meget ofte (80–99 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Meget ofte (80–99 %) | I 1 tilstand |
| ZNF513zinc finger protein 513 | Meget ofte (80–99 %) | I 1 tilstand |
| ABCC6ATP binding cassette subfamily C member 6 | Ofte (30–79 %) | I 3 tilstande |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Ofte (30–79 %) | I 1 tilstand |
| AMACRalpha-methylacyl-CoA racemase | Ofte (30–79 %) | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Ofte (30–79 %) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Ofte (30–79 %) | I 2 tilstande |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 2 tilstande |
| ARID2AT-rich interaction domain 2 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Ofte (30–79 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ofte (30–79 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Ofte (30–79 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Ofte (30–79 %) | I 1 tilstand |
| BDNFbrain derived neurotrophic factor | Ofte (30–79 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Ofte (30–79 %) | I 1 tilstand |
| CABP4calcium binding protein 4 | Ofte (30–79 %) | I 2 tilstande |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 1 tilstand |
| CCT3chaperonin containing TCP1 subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| CHD6chromodomain helicase DNA binding protein 6 | Ofte (30–79 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Ofte (30–79 %) | I 1 tilstand |
| COG3component of oligomeric golgi complex 3 | Ofte (30–79 %) | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COQ4coenzyme Q4 | Ofte (30–79 %) | I 1 tilstand |
| COX11cytochrome c oxidase copper chaperone COX11 | Ofte (30–79 %) | I 1 tilstand |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Ofte (30–79 %) | I 1 tilstand |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Ofte (30–79 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Ofte (30–79 %) | I 2 tilstande |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Ofte (30–79 %) | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Ofte (30–79 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 1 tilstand |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Ofte (30–79 %) | I 2 tilstande |
| EIF4Heukaryotic translation initiation factor 4H | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Ofte (30–79 %) | I 2 tilstande |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Ofte (30–79 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Ofte (30–79 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 3 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 2 tilstande |
| FASFas cell surface death receptor | Ofte (30–79 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Ofte (30–79 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 2 tilstande |
| GLRX5glutaredoxin 5 | Ofte (30–79 %) | I 2 tilstande |
| GNSglucosamine (N-acetyl)-6-sulfatase | Ofte (30–79 %) | I 1 tilstand |
| GSNgelsolin | Ofte (30–79 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| GUCY2Dguanylate cyclase 2D, retinal | Ofte (30–79 %) | I 2 tilstande |
| GUSBglucuronidase beta | Ofte (30–79 %) | I 1 tilstand |
| HIKESHIheat shock protein nuclear import factor hikeshi | Ofte (30–79 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Ofte (30–79 %) | I 3 tilstande |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Ofte (30–79 %) | I 2 tilstande |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Ofte (30–79 %) | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Ofte (30–79 %) | I 4 tilstande |
| IGBP1immunoglobulin binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Ofte (30–79 %) | I 1 tilstand |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Ofte (30–79 %) | I 2 tilstande |
| LAMP2lysosome associated membrane protein 2 | Ofte (30–79 %) | I 1 tilstand |
| LCA5lebercilin LCA5 | Ofte (30–79 %) | I 2 tilstande |
| LIMK1LIM domain kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| LYRM7LYR motif containing 7 | Ofte (30–79 %) | I 1 tilstand |
| MAB21L1mab-21 like 1 | Ofte (30–79 %) | I 2 tilstande |
| MAFMAF bZIP transcription factor | Ofte (30–79 %) | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Ofte (30–79 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Ofte (30–79 %) | I 1 tilstand |
| MFFmitochondrial fission factor | Ofte (30–79 %) | I 2 tilstande |
| MMACHCmetabolism of cobalamin associated C | Ofte (30–79 %) | I 2 tilstande |
| MYOCmyocilin | Ofte (30–79 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Ofte (30–79 %) | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Ofte (30–79 %) | I 1 tilstand |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| PAX2paired box 2 | Ofte (30–79 %) | I 1 tilstand |
| PEPDpeptidase D | Ofte (30–79 %) | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ofte (30–79 %) | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ofte (30–79 %) | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Ofte (30–79 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Ofte (30–79 %) | I 1 tilstand |
| PLK4polo like kinase 4 | Ofte (30–79 %) | I 2 tilstande |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 2 tilstande |
| POLR1BRNA polymerase I subunit B | Ofte (30–79 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Ofte (30–79 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Ofte (30–79 %) | I 1 tilstand |
| POLR2ARNA polymerase II subunit A | Ofte (30–79 %) | I 1 tilstand |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Ofte (30–79 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Ofte (30–79 %) | I 3 tilstande |
| RELREL proto-oncogene, NF-kB subunit | Ofte (30–79 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| RFT1RFT1 glycolipid translocator homolog | Ofte (30–79 %) | I 1 tilstand |
| ROBO3roundabout guidance receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Ofte (30–79 %) | I 1 tilstand |
| RTN2reticulon 2 | Ofte (30–79 %) | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ofte (30–79 %) | I 2 tilstande |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 2 tilstande |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Ofte (30–79 %) | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Ofte (30–79 %) | I 1 tilstand |
| SOX4SRY-box transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| SRSF1serine and arginine rich splicing factor 1 | Ofte (30–79 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Ofte (30–79 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Ofte (30–79 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Ofte (30–79 %) | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Ofte (30–79 %) | I 2 tilstande |
| TMEM138transmembrane protein 138 | Ofte (30–79 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ofte (30–79 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Ofte (30–79 %) | I 1 tilstand |
| TMEM67transmembrane protein 67 | Ofte (30–79 %) | I 1 tilstand |
| TSPAN12tetraspanin 12 | Ofte (30–79 %) | I 1 tilstand |
| TUBGCP4tubulin gamma complex component 4 | Ofte (30–79 %) | I 2 tilstande |
| TUBGCP6tubulin gamma complex component 6 | Ofte (30–79 %) | I 2 tilstande |
| TWIST2twist family bHLH transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| TYRtyrosinase | Ofte (30–79 %) | I 4 tilstande |
| VPS37DVPS37D subunit of ESCRT-I | Ofte (30–79 %) | I 1 tilstand |
| WT1WT1 transcription factor | Ofte (30–79 %) | I 1 tilstand |
| XPO1exportin 1 | Ofte (30–79 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Ofte (30–79 %) | I 2 tilstande |
| ZNF423zinc finger protein 423 | Ofte (30–79 %) | I 1 tilstand |
| ZSCAN10zinc finger and SCAN domain containing 10 | Ofte (30–79 %) | I 1 tilstand |
| AAASaladin WD repeat nucleoporin | Nogle gange (5–29 %) | I 1 tilstand |
| ADAM9ADAM metallopeptidase domain 9 | Nogle gange (5–29 %) | I 2 tilstande |
| ADAMTSL4ADAMTS like 4 | Nogle gange (5–29 %) | I 1 tilstand |
| AGO2argonaute RISC catalytic component 2 | Nogle gange (5–29 %) | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Nogle gange (5–29 %) | I 1 tilstand |
| ANKHANKH inorganic pyrophosphate transport regulator | Nogle gange (5–29 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| ANOS1anosmin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ATF6activating transcription factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ATMATM serine/threonine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| BCL10BCL10 immune signaling adaptor | Nogle gange (5–29 %) | I 1 tilstand |
| BCORBCL6 corepressor | Nogle gange (5–29 %) | I 1 tilstand |
| BIRC3baculoviral IAP repeat containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Nogle gange (5–29 %) | I 1 tilstand |
| BOLA3bolA family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Nogle gange (5–29 %) | I 2 tilstande |
| BRIP1BRCA1 interacting DNA helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Nogle gange (5–29 %) | I 3 tilstande |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Nogle gange (5–29 %) | I 2 tilstande |
| CALRcalreticulin | Nogle gange (5–29 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CBScystathionine beta-synthase | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC141coiled-coil domain containing 141 | Nogle gange (5–29 %) | I 1 tilstand |
| CDK8cyclin dependent kinase 8 | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Nogle gange (5–29 %) | I 1 tilstand |
| CHEK2checkpoint kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Nogle gange (5–29 %) | I 1 tilstand |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Nogle gange (5–29 %) | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| DOLKdolichol kinase | Nogle gange (5–29 %) | I 1 tilstand |
| DRAM2DNA damage regulated autophagy modulator 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DUSP6dual specificity phosphatase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| EMX2empty spiracles homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EPCAMepithelial cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Nogle gange (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Nogle gange (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Nogle gange (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Nogle gange (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Nogle gange (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Nogle gange (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Nogle gange (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Nogle gange (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Nogle gange (5–29 %) | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| FBN1fibrillin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Nogle gange (5–29 %) | I 1 tilstand |
| FEZF1FEZ family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF17fibroblast growth factor 17 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| FGFR3fibroblast growth factor receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| FILIP1filamin A interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FN1fibronectin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXP1forkhead box P1 | Nogle gange (5–29 %) | I 1 tilstand |
| FXNfrataxin | Nogle gange (5–29 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Nogle gange (5–29 %) | I 1 tilstand |
| GMPPAGDP-mannose pyrophosphorylase A | Nogle gange (5–29 %) | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GPR143G protein-coupled receptor 143 | Nogle gange (5–29 %) | I 1 tilstand |
| GTPBP3GTP binding protein 3, mitochondrial | Nogle gange (5–29 %) | I 2 tilstande |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IGHimmunoglobulin heavy locus | Nogle gange (5–29 %) | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Nogle gange (5–29 %) | I 1 tilstand |
| IKZF1IKAROS family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL12Binterleukin 12B | Nogle gange (5–29 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Nogle gange (5–29 %) | I 1 tilstand |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Nogle gange (5–29 %) | I 1 tilstand |
| JAK2Janus kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| LAMA3laminin subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LCATlecithin-cholesterol acyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Nogle gange (5–29 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MALT1MALT1 paracaspase | Nogle gange (5–29 %) | I 1 tilstand |
| MLH1mutL homolog 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MLXMAX dimerization protein MLX | Nogle gange (5–29 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Nogle gange (5–29 %) | I 1 tilstand |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Nogle gange (5–29 %) | I 1 tilstand |
| MPLMPL proto-oncogene, thrombopoietin receptor | Nogle gange (5–29 %) | I 1 tilstand |
| MSH2mutS homolog 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MSH6mutS homolog 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Nogle gange (5–29 %) | I 1 tilstand |
| MUTYHmutY DNA glycosylase | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NDNFneuron derived neurotrophic factor | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NPATnuclear protein, coactivator of histone transcription | Nogle gange (5–29 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| OPN1LWopsin 1, long wave sensitive | Nogle gange (5–29 %) | I 3 tilstande |
| OPN1MWopsin 1, medium wave sensitive | Nogle gange (5–29 %) | I 3 tilstande |
| PALB2partner and localizer of BRCA2 | Nogle gange (5–29 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Nogle gange (5–29 %) | I 1 tilstand |
| PDPNpodoplanin | Nogle gange (5–29 %) | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PITPNM3PITPNM family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PLCB1phospholipase C beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PLXND1plexin D1 | Nogle gange (5–29 %) | I 1 tilstand |
| PMS1PMS1 homolog 1, mismatch repair system component | Nogle gange (5–29 %) | I 1 tilstand |
| PMS2PMS1 homolog 2, mismatch repair system component | Nogle gange (5–29 %) | I 1 tilstand |
| POC1BPOC1 centriolar protein B | Nogle gange (5–29 %) | I 2 tilstande |
| POLD1DNA polymerase delta 1, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Nogle gange (5–29 %) | I 3 tilstande |
| POLG2DNA polymerase gamma 2, accessory subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Nogle gange (5–29 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Nogle gange (5–29 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Nogle gange (5–29 %) | I 1 tilstand |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PROK2prokineticin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PRTN3proteinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PUS3pseudouridine synthase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RAB11BRAB11B, member RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RAB28RAB28, member RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RAB3ARAB3A, member RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Nogle gange (5–29 %) | I 1 tilstand |
| RAX2retina and anterior neural fold homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 1 tilstand |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RIMS1regulating synaptic membrane exocytosis 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Nogle gange (5–29 %) | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| RPS20ribosomal protein S20 | Nogle gange (5–29 %) | I 1 tilstand |
| RRM1ribonucleotide reductase catalytic subunit M1 | Nogle gange (5–29 %) | I 1 tilstand |
| SAR1Bsecretion associated Ras related GTPase 1B | Nogle gange (5–29 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA3Asemaphorin 3A | Nogle gange (5–29 %) | I 1 tilstand |
| SH2B3SH2B adaptor protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SH3BP2SH3 domain binding protein 2 | Nogle gange (5–29 %) | I 2 tilstande |
| SKISKI proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| SLC12A5solute carrier family 12 member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC39A4solute carrier family 39 member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Nogle gange (5–29 %) | I 1 tilstand |
| SOBPsine oculis binding protein homolog | Nogle gange (5–29 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Nogle gange (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Nogle gange (5–29 %) | I 2 tilstande |
| SPRY4sprouty RTK signaling antagonist 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SRYsex determining region Y | Nogle gange (5–29 %) | I 1 tilstand |
| TACR3tachykinin receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TAOK1TAO kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Nogle gange (5–29 %) | I 1 tilstand |
| TCP1t-complex 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TET2tet methylcytosine dioxygenase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| THOC2THO complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TK2thymidine kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TLCD3BTLC domain containing 3B | Nogle gange (5–29 %) | I 1 tilstand |
| TOP3ADNA topoisomerase III alpha | Nogle gange (5–29 %) | I 1 tilstand |
| TP53tumor protein p53 | Nogle gange (5–29 %) | I 2 tilstande |
| TRAPPC11trafficking protein particle complex subunit 11 | Nogle gange (5–29 %) | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| TTLL5tubulin tyrosine ligase like 5 | Nogle gange (5–29 %) | I 1 tilstand |
| TTPAalpha tocopherol transfer protein | Nogle gange (5–29 %) | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Nogle gange (5–29 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Nogle gange (5–29 %) | I 1 tilstand |
| UBAP1Lubiquitin associated protein 1 like | Nogle gange (5–29 %) | I 1 tilstand |
| UBAP2Lubiquitin associated protein 2 like | Nogle gange (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Nogle gange (5–29 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Nogle gange (5–29 %) | I 1 tilstand |
| UNC119unc-119 lipid binding chaperone | Nogle gange (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| YAP1Yes1 associated transcriptional regulator | Nogle gange (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Sjældent (1–4%) | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Sjældent (1–4%) | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| FDX2ferredoxin 2 | Sjældent (1–4%) | I 1 tilstand |
| GRK1G protein-coupled receptor kinase 1 | Sjældent (1–4%) | I 1 tilstand |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Sjældent (1–4%) | I 1 tilstand |
| ABCA1ATP binding cassette subfamily A member 1 | Ikke registreret | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Ikke registreret | I 1 tilstand |
| ARXaristaless related homeobox | Ikke registreret | I 1 tilstand |
| CA2carbonic anhydrase 2 | Ikke registreret | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Ikke registreret | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Ikke registreret | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ikke registreret | I 1 tilstand |
| COL17A1collagen type XVII alpha 1 chain | Ikke registreret | I 1 tilstand |
| COQ7coenzyme Q7, hydroxylase | Ikke registreret | I 1 tilstand |
| CRYAAcrystallin alpha A | Ikke registreret | I 1 tilstand |
| CRYGCcrystallin gamma C | Ikke registreret | I 1 tilstand |
| DTNBP1dystrobrevin binding protein 1 | Ikke registreret | I 1 tilstand |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Ikke registreret | I 1 tilstand |
| FHfumarate hydratase | Ikke registreret | I 1 tilstand |
| GDF3growth differentiation factor 3 | Ikke registreret | I 1 tilstand |
| GDF6growth differentiation factor 6 | Ikke registreret | I 1 tilstand |
| GPR179G protein-coupled receptor 179 | Ikke registreret | I 1 tilstand |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Ikke registreret | I 1 tilstand |
| HPS3HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 | Ikke registreret | I 1 tilstand |
| ISCA2iron-sulfur cluster assembly 2 | Ikke registreret | I 1 tilstand |
| LRPAP1LDL receptor related protein associated protein 1 | Ikke registreret | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ikke registreret | I 1 tilstand |
| MC1Rmelanocortin 1 receptor | Ikke registreret | I 1 tilstand |
| MCOLN1mucolipin TRP cation channel 1 | Ikke registreret | I 1 tilstand |
| MIR184microRNA 184 | Ikke registreret | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Ikke registreret | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ikke registreret | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ikke registreret | I 1 tilstand |
| PHF6PHD finger protein 6 | Ikke registreret | I 1 tilstand |
| PHOX2Apaired like homeobox 2A | Ikke registreret | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Ikke registreret | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ikke registreret | I 1 tilstand |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Ikke registreret | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Ikke registreret | I 1 tilstand |
| POMKprotein O-mannose kinase | Ikke registreret | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Ikke registreret | I 1 tilstand |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Ikke registreret | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ikke registreret | I 1 tilstand |
| PRNPprion protein (Kanno blood group) | Ikke registreret | I 1 tilstand |
| RBP4retinol binding protein 4 | Ikke registreret | I 1 tilstand |
| SLC45A2solute carrier family 45 member 2 | Ikke registreret | I 1 tilstand |
| SYT1synaptotagmin 1 | Ikke registreret | I 1 tilstand |
| TACSTD2tumor associated calcium signal transducer 2 | Ikke registreret | I 1 tilstand |
| TCF4transcription factor 4 | Ikke registreret | I 1 tilstand |
| TDO2tryptophan 2,3-dioxygenase | Ikke registreret | I 1 tilstand |
| TMEM126Atransmembrane protein 126A | Ikke registreret | I 1 tilstand |
| TP53RKTP53 regulating kinase | Ikke registreret | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Ikke registreret | I 1 tilstand |
| TSEN34tRNA splicing endonuclease subunit 34 | Ikke registreret | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Ikke registreret | I 1 tilstand |
| TTRtransthyretin | Ikke registreret | I 1 tilstand |
| USP45ubiquitin specific peptidase 45 | Ikke registreret | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Ikke registreret | I 1 tilstand |
| WDR45BWD repeat domain 45B | Ikke registreret | I 1 tilstand |
| ZFYVE26zinc finger FYVE-type containing 26 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Snævrere træk
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger