Egenskap
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.
Sammendrag
- Også kalt
- Impaired vision, Loss of eyesight, Poor vision
- Kroppssystem
- Abnormality of the eye
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Visual impairment forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ACO2aconitase 2 | Alltid | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Alltid | I 2 tilstander |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Alltid | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Alltid | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Alltid | I 2 tilstander |
| ARL6ARF like GTPase 6 | Alltid | I 2 tilstander |
| ASPAaspartoacylase | Alltid | I 1 tilstand |
| ASPHaspartate beta-hydroxylase | Alltid | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Alltid | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| CEP290centrosomal protein 290 | Alltid | I 4 tilstander |
| CEP78centrosomal protein 78 | Alltid | I 1 tilstand |
| CHMCHM Rab escort protein | Alltid | I 2 tilstander |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Alltid | I 2 tilstander |
| COL18A1collagen type XVIII alpha 1 chain | Alltid | I 1 tilstand |
| CRXcone-rod homeobox | Alltid | I 3 tilstander |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Alltid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Alltid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alltid | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Alltid | I 3 tilstander |
| FCSKfucose kinase | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 3 tilstander |
| GRNgranulin precursor | Alltid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| HARS1histidyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| HKDC1hexokinase domain containing 1 | Alltid | I 2 tilstander |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Alltid | I 2 tilstander |
| IFT74intraflagellar transport 74 | Alltid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Alltid | I 1 tilstand |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Alltid | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Alltid | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Alltid | I 2 tilstander |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Alltid | I 2 tilstander |
| NAPBNSF attachment protein beta | Alltid | I 1 tilstand |
| NCAPG2non-SMC condensin II complex subunit G2 | Alltid | I 1 tilstand |
| NLRP1NLR family pyrin domain containing 1 | Alltid | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Alltid | I 2 tilstander |
| OATornithine aminotransferase | Alltid | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alltid | I 4 tilstander |
Vis 560 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Alltid | I 3 tilstander |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Alltid | I 2 tilstander |
| PAX6paired box 6 | Alltid | I 3 tilstander |
| PCDH12protocadherin 12 | Alltid | I 1 tilstand |
| PDE6Aphosphodiesterase 6A | Alltid | I 2 tilstander |
| PRPF6pre-mRNA processing factor 6 | Alltid | I 2 tilstander |
| PRPH2peripherin 2 | Alltid | I 6 tilstander |
| RBP3retinol binding protein 3 | Alltid | I 2 tilstander |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Alltid | I 2 tilstander |
| SCO2synthesis of cytochrome C oxidase 2 | Alltid | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Alltid | I 2 tilstander |
| SDHDsuccinate dehydrogenase complex subunit D | Alltid | I 1 tilstand |
| SFXN4sideroflexin 4 | Alltid | I 1 tilstand |
| SLC24A5solute carrier family 24 member 5 | Alltid | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Alltid | I 1 tilstand |
| TENM3teneurin transmembrane protein 3 | Alltid | I 1 tilstand |
| TGFBItransforming growth factor beta induced | Alltid | I 4 tilstander |
| TMEM53transmembrane protein 53 | Alltid | I 1 tilstand |
| TMEM63Btransmembrane protein 63B | Alltid | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Alltid | I 1 tilstand |
| TUBTUB bipartite transcription factor | Alltid | I 2 tilstander |
| VPS4Avacuolar protein sorting 4 homolog A | Alltid | I 1 tilstand |
| WDR19WD repeat domain 19 | Alltid | I 3 tilstander |
| YME1L1YME1 like 1 ATPase | Alltid | I 1 tilstand |
| ZFXzinc finger protein X-linked | Alltid | I 1 tilstand |
| ABCA4ATP binding cassette subfamily A member 4 | Svært ofte (80–99 %) | I 3 tilstander |
| AGBL5AGBL carboxypeptidase 5 | Svært ofte (80–99 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Svært ofte (80–99 %) | I 2 tilstander |
| AHRaryl hydrocarbon receptor | Svært ofte (80–99 %) | I 1 tilstand |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Svært ofte (80–99 %) | I 1 tilstand |
| ARL2BPARF like GTPase 2 binding protein | Svært ofte (80–99 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Svært ofte (80–99 %) | I 1 tilstand |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Svært ofte (80–99 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Svært ofte (80–99 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Svært ofte (80–99 %) | I 1 tilstand |
| BEST1bestrophin 1 | Svært ofte (80–99 %) | I 4 tilstander |
| CA4carbonic anhydrase 4 | Svært ofte (80–99 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Svært ofte (80–99 %) | I 3 tilstander |
| CDHR1cadherin related family member 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CEP164centrosomal protein 164 | Svært ofte (80–99 %) | I 1 tilstand |
| CERKLCERK like autophagy regulator | Svært ofte (80–99 %) | I 2 tilstander |
| CFAP20cilia and flagella associated protein 20 | Svært ofte (80–99 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Svært ofte (80–99 %) | I 2 tilstander |
| CLCN7Cl-/H+ antiporter 7 | Svært ofte (80–99 %) | I 4 tilstander |
| CLN8CLN8 transmembrane ER and ERGIC protein | Svært ofte (80–99 %) | I 1 tilstand |
| CLRN1clarin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Svært ofte (80–99 %) | I 1 tilstand |
| COQ8Bcoenzyme Q8B | Svært ofte (80–99 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Svært ofte (80–99 %) | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Svært ofte (80–99 %) | I 2 tilstander |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Svært ofte (80–99 %) | I 1 tilstand |
| DHX38DEAH-box helicase 38 | Svært ofte (80–99 %) | I 1 tilstand |
| DNM1Ldynamin 1L | Svært ofte (80–99 %) | I 1 tilstand |
| EXOSC8exosome component 8 | Svært ofte (80–99 %) | I 1 tilstand |
| EYSEGF-like photoreceptor maintenance factor | Svært ofte (80–99 %) | I 1 tilstand |
| FAM161AFAM161 centrosomal protein A | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| FKRPfukutin related protein | Svært ofte (80–99 %) | I 1 tilstand |
| FKTNfukutin | Svært ofte (80–99 %) | I 2 tilstander |
| FSCN2fascin actin-bundling protein 2, retinal | Svært ofte (80–99 %) | I 2 tilstander |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Svært ofte (80–99 %) | I 2 tilstander |
| GMPPBGDP-mannose pyrophosphorylase B | Svært ofte (80–99 %) | I 1 tilstand |
| GNAT2G protein subunit alpha transducin 2 | Svært ofte (80–99 %) | I 2 tilstander |
| GUCA1Aguanylate cyclase activator 1A | Svært ofte (80–99 %) | I 3 tilstander |
| GUCA1Bguanylate cyclase activator 1B | Svært ofte (80–99 %) | I 2 tilstander |
| HESX1HESX homeobox 1 | Svært ofte (80–99 %) | I 2 tilstander |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Svært ofte (80–99 %) | I 2 tilstander |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Svært ofte (80–99 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Svært ofte (80–99 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Svært ofte (80–99 %) | I 1 tilstand |
| IFT43intraflagellar transport 43 | Svært ofte (80–99 %) | I 1 tilstand |
| IFT54intraflagellar transport 54 | Svært ofte (80–99 %) | I 1 tilstand |
| IFT88intraflagellar transport 88 | Svært ofte (80–99 %) | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Svært ofte (80–99 %) | I 2 tilstander |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Svært ofte (80–99 %) | I 2 tilstander |
| INPP5Einositol polyphosphate-5-phosphatase E | Svært ofte (80–99 %) | I 2 tilstander |
| INVSinversin | Svært ofte (80–99 %) | I 1 tilstand |
| IQCB1IQ motif containing B1 | Svært ofte (80–99 %) | I 1 tilstand |
| KIAA1549KIAA1549 | Svært ofte (80–99 %) | I 1 tilstand |
| KIZkizuna centrosomal protein | Svært ofte (80–99 %) | I 1 tilstand |
| KLHL7kelch like family member 7 | Svært ofte (80–99 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Svært ofte (80–99 %) | I 2 tilstander |
| LSSlanosterol synthase | Svært ofte (80–99 %) | I 1 tilstand |
| MAKmale germ cell associated kinase | Svært ofte (80–99 %) | I 1 tilstand |
| MERTKMER proto-oncogene, tyrosine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Svært ofte (80–99 %) | I 2 tilstander |
| NEK2NIMA related kinase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NHSNHS actin remodeling regulator | Svært ofte (80–99 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NPHP3nephrocystin 3 | Svært ofte (80–99 %) | I 1 tilstand |
| NPHP4nephrocystin 4 | Svært ofte (80–99 %) | I 1 tilstand |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Svært ofte (80–99 %) | I 1 tilstand |
| NRLneural retina leucine zipper | Svært ofte (80–99 %) | I 2 tilstander |
| OFD1OFD1 centriole and centriolar satellite protein | Svært ofte (80–99 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Svært ofte (80–99 %) | I 2 tilstander |
| PCAREphotoreceptor cilium actin regulator | Svært ofte (80–99 %) | I 2 tilstander |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Svært ofte (80–99 %) | I 1 tilstand |
| PDE6Bphosphodiesterase 6B | Svært ofte (80–99 %) | I 1 tilstand |
| PDE6Cphosphodiesterase 6C | Svært ofte (80–99 %) | I 2 tilstander |
| PDE6Gphosphodiesterase 6G | Svært ofte (80–99 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX10peroxisomal biogenesis factor 10 | Svært ofte (80–99 %) | I 4 tilstander |
| PEX11Bperoxisomal biogenesis factor 11 beta | Svært ofte (80–99 %) | I 3 tilstander |
| PEX12peroxisomal biogenesis factor 12 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX13peroxisomal biogenesis factor 13 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX14peroxisomal biogenesis factor 14 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX16peroxisomal biogenesis factor 16 | Svært ofte (80–99 %) | I 4 tilstander |
| PEX19peroxisomal biogenesis factor 19 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX2peroxisomal biogenesis factor 2 | Svært ofte (80–99 %) | I 4 tilstander |
| PEX26peroxisomal biogenesis factor 26 | Svært ofte (80–99 %) | I 4 tilstander |
| PEX3peroxisomal biogenesis factor 3 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX5peroxisomal biogenesis factor 5 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX6peroxisomal biogenesis factor 6 | Svært ofte (80–99 %) | I 4 tilstander |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Svært ofte (80–99 %) | I 2 tilstander |
| POMT1protein O-mannosyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Svært ofte (80–99 %) | I 1 tilstand |
| PRCDphotoreceptor disc component | Svært ofte (80–99 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Svært ofte (80–99 %) | I 2 tilstander |
| PROM1prominin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PRPF3pre-mRNA processing factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPF31pre-mRNA processing factor 31 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPF8pre-mRNA processing factor 8 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Svært ofte (80–99 %) | I 1 tilstand |
| REEP6receptor accessory protein 6 | Svært ofte (80–99 %) | I 1 tilstand |
| RGRretinal G protein coupled receptor | Svært ofte (80–99 %) | I 2 tilstander |
| RGS9regulator of G protein signaling 9 | Svært ofte (80–99 %) | I 1 tilstand |
| RGS9BPregulator of G protein signaling 9 binding protein | Svært ofte (80–99 %) | I 1 tilstand |
| RHOrhodopsin | Svært ofte (80–99 %) | I 1 tilstand |
| RLBP1retinaldehyde binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Svært ofte (80–99 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU6-1RNA, U6 small nuclear 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU6-2RNA, U6 small nuclear 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU6-8RNA, U6 small nuclear 8 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU6-9RNA, U6 small nuclear 9 | Svært ofte (80–99 %) | I 1 tilstand |
| ROM1retinal outer segment membrane protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RP1RP1 axonemal microtubule associated | Svært ofte (80–99 %) | I 1 tilstand |
| RP1L1RP1 like 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| RP9RP9 pre-mRNA splicing factor | Svært ofte (80–99 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Svært ofte (80–99 %) | I 3 tilstander |
| RPGRretinitis pigmentosa GTPase regulator | Svært ofte (80–99 %) | I 3 tilstander |
| SAGS-antigen visual arrestin | Svært ofte (80–99 %) | I 3 tilstander |
| SAXO6stabilizer of axonemal microtubules 6 | Svært ofte (80–99 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Svært ofte (80–99 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Svært ofte (80–99 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Svært ofte (80–99 %) | I 3 tilstander |
| SLC38A3solute carrier family 38 member 3 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC4A11solute carrier family 4 member 11 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC7A14solute carrier family 7 member 14 | Svært ofte (80–99 %) | I 1 tilstand |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Svært ofte (80–99 %) | I 2 tilstander |
| SNX10sorting nexin 10 | Svært ofte (80–99 %) | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SOX3SRY-box transcription factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Svært ofte (80–99 %) | I 2 tilstander |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Svært ofte (80–99 %) | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Svært ofte (80–99 %) | I 3 tilstander |
| TMEM216transmembrane protein 216 | Svært ofte (80–99 %) | I 3 tilstander |
| TNFSF11TNF superfamily member 11 | Svært ofte (80–99 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Svært ofte (80–99 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Svært ofte (80–99 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Svært ofte (80–99 %) | I 2 tilstander |
| TULP1TUB like protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| USH2Ausherin | Svært ofte (80–99 %) | I 2 tilstander |
| WACWW domain containing adaptor with coiled-coil | Svært ofte (80–99 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Svært ofte (80–99 %) | I 1 tilstand |
| ZNF513zinc finger protein 513 | Svært ofte (80–99 %) | I 1 tilstand |
| ABCC6ATP binding cassette subfamily C member 6 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| GLRX5glutaredoxin 5 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Ofte (30–79 %) | I 2 tilstander |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Ofte (30–79 %) | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| LAMP2lysosome associated membrane protein 2 | Ofte (30–79 %) | I 1 tilstand |
| LCA5lebercilin LCA5 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| MMACHCmetabolism of cobalamin associated C | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| TUBGCP6tubulin gamma complex component 6 | Ofte (30–79 %) | I 2 tilstander |
| TWIST2twist family bHLH transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| TYRtyrosinase | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| ADAM9ADAM metallopeptidase domain 9 | Noen ganger (5–29 %) | I 2 tilstander |
| ADAMTSL4ADAMTS like 4 | Noen ganger (5–29 %) | I 1 tilstand |
| AGO2argonaute RISC catalytic component 2 | Noen ganger (5–29 %) | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Noen ganger (5–29 %) | I 1 tilstand |
| ANKHANKH inorganic pyrophosphate transport regulator | Noen ganger (5–29 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| ANOS1anosmin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ATF6activating transcription factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| ATMATM serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| BCL10BCL10 immune signaling adaptor | Noen ganger (5–29 %) | I 1 tilstand |
| BCORBCL6 corepressor | Noen ganger (5–29 %) | I 1 tilstand |
| BIRC3baculoviral IAP repeat containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Noen ganger (5–29 %) | I 1 tilstand |
| BOLA3bolA family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 2 tilstander |
| BRIP1BRCA1 interacting DNA helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Noen ganger (5–29 %) | I 3 tilstander |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Noen ganger (5–29 %) | I 2 tilstander |
| CALRcalreticulin | Noen ganger (5–29 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CBScystathionine beta-synthase | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC141coiled-coil domain containing 141 | Noen ganger (5–29 %) | I 1 tilstand |
| CDK8cyclin dependent kinase 8 | Noen ganger (5–29 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Noen ganger (5–29 %) | I 1 tilstand |
| CHEK2checkpoint kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Noen ganger (5–29 %) | I 1 tilstand |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Noen ganger (5–29 %) | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| DOLKdolichol kinase | Noen ganger (5–29 %) | I 1 tilstand |
| DRAM2DNA damage regulated autophagy modulator 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DUSP6dual specificity phosphatase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| EMX2empty spiracles homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EPCAMepithelial cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Noen ganger (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Noen ganger (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Noen ganger (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Noen ganger (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Noen ganger (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Noen ganger (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Noen ganger (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Noen ganger (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Noen ganger (5–29 %) | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| FBN1fibrillin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Noen ganger (5–29 %) | I 1 tilstand |
| FEZF1FEZ family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF17fibroblast growth factor 17 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| FGFR3fibroblast growth factor receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| FILIP1filamin A interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FN1fibronectin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXP1forkhead box P1 | Noen ganger (5–29 %) | I 1 tilstand |
| FXNfrataxin | Noen ganger (5–29 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Noen ganger (5–29 %) | I 1 tilstand |
| GMPPAGDP-mannose pyrophosphorylase A | Noen ganger (5–29 %) | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Noen ganger (5–29 %) | I 2 tilstander |
| GPR143G protein-coupled receptor 143 | Noen ganger (5–29 %) | I 1 tilstand |
| GTPBP3GTP binding protein 3, mitochondrial | Noen ganger (5–29 %) | I 2 tilstander |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IGHimmunoglobulin heavy locus | Noen ganger (5–29 %) | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Noen ganger (5–29 %) | I 1 tilstand |
| IKZF1IKAROS family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL12Binterleukin 12B | Noen ganger (5–29 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Noen ganger (5–29 %) | I 1 tilstand |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Noen ganger (5–29 %) | I 1 tilstand |
| JAK2Janus kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| LAMA3laminin subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LCATlecithin-cholesterol acyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MALT1MALT1 paracaspase | Noen ganger (5–29 %) | I 1 tilstand |
| MLH1mutL homolog 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MLXMAX dimerization protein MLX | Noen ganger (5–29 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Noen ganger (5–29 %) | I 1 tilstand |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Noen ganger (5–29 %) | I 1 tilstand |
| MPLMPL proto-oncogene, thrombopoietin receptor | Noen ganger (5–29 %) | I 1 tilstand |
| MSH2mutS homolog 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MSH6mutS homolog 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Noen ganger (5–29 %) | I 1 tilstand |
| MUTYHmutY DNA glycosylase | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NDNFneuron derived neurotrophic factor | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NPATnuclear protein, coactivator of histone transcription | Noen ganger (5–29 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| OPN1LWopsin 1, long wave sensitive | Noen ganger (5–29 %) | I 3 tilstander |
| OPN1MWopsin 1, medium wave sensitive | Noen ganger (5–29 %) | I 3 tilstander |
| PALB2partner and localizer of BRCA2 | Noen ganger (5–29 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Noen ganger (5–29 %) | I 1 tilstand |
| PDPNpodoplanin | Noen ganger (5–29 %) | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PITPNM3PITPNM family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PLCB1phospholipase C beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PLXND1plexin D1 | Noen ganger (5–29 %) | I 1 tilstand |
| PMS1PMS1 homolog 1, mismatch repair system component | Noen ganger (5–29 %) | I 1 tilstand |
| PMS2PMS1 homolog 2, mismatch repair system component | Noen ganger (5–29 %) | I 1 tilstand |
| POC1BPOC1 centriolar protein B | Noen ganger (5–29 %) | I 2 tilstander |
| POLD1DNA polymerase delta 1, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Noen ganger (5–29 %) | I 3 tilstander |
| POLG2DNA polymerase gamma 2, accessory subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Noen ganger (5–29 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Noen ganger (5–29 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Noen ganger (5–29 %) | I 1 tilstand |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PROK2prokineticin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PRTN3proteinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PUS3pseudouridine synthase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RAB11BRAB11B, member RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| RAB28RAB28, member RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| RAB3ARAB3A, member RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Noen ganger (5–29 %) | I 1 tilstand |
| RAX2retina and anterior neural fold homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 1 tilstand |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RIMS1regulating synaptic membrane exocytosis 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Noen ganger (5–29 %) | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| RPS20ribosomal protein S20 | Noen ganger (5–29 %) | I 1 tilstand |
| RRM1ribonucleotide reductase catalytic subunit M1 | Noen ganger (5–29 %) | I 1 tilstand |
| SAR1Bsecretion associated Ras related GTPase 1B | Noen ganger (5–29 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA3Asemaphorin 3A | Noen ganger (5–29 %) | I 1 tilstand |
| SH2B3SH2B adaptor protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SH3BP2SH3 domain binding protein 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SKISKI proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| SLC12A5solute carrier family 12 member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC39A4solute carrier family 39 member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Noen ganger (5–29 %) | I 1 tilstand |
| SOBPsine oculis binding protein homolog | Noen ganger (5–29 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Noen ganger (5–29 %) | I 2 tilstander |
| SPRY4sprouty RTK signaling antagonist 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SRYsex determining region Y | Noen ganger (5–29 %) | I 1 tilstand |
| TACR3tachykinin receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TAOK1TAO kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Noen ganger (5–29 %) | I 1 tilstand |
| TCP1t-complex 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TET2tet methylcytosine dioxygenase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| THOC2THO complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TK2thymidine kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TLCD3BTLC domain containing 3B | Noen ganger (5–29 %) | I 1 tilstand |
| TOP3ADNA topoisomerase III alpha | Noen ganger (5–29 %) | I 1 tilstand |
| TP53tumor protein p53 | Noen ganger (5–29 %) | I 2 tilstander |
| TRAPPC11trafficking protein particle complex subunit 11 | Noen ganger (5–29 %) | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| TTLL5tubulin tyrosine ligase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| TTPAalpha tocopherol transfer protein | Noen ganger (5–29 %) | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Noen ganger (5–29 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Noen ganger (5–29 %) | I 1 tilstand |
| UBAP1Lubiquitin associated protein 1 like | Noen ganger (5–29 %) | I 1 tilstand |
| UBAP2Lubiquitin associated protein 2 like | Noen ganger (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Noen ganger (5–29 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Noen ganger (5–29 %) | I 1 tilstand |
| UNC119unc-119 lipid binding chaperone | Noen ganger (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| YAP1Yes1 associated transcriptional regulator | Noen ganger (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Sjelden (1–4%) | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Sjelden (1–4%) | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| FDX2ferredoxin 2 | Sjelden (1–4%) | I 1 tilstand |
| GRK1G protein-coupled receptor kinase 1 | Sjelden (1–4%) | I 1 tilstand |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Sjelden (1–4%) | I 1 tilstand |
| ABCA1ATP binding cassette subfamily A member 1 | Ikke registrert | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Ikke registrert | I 1 tilstand |
| ARXaristaless related homeobox | Ikke registrert | I 1 tilstand |
| CA2carbonic anhydrase 2 | Ikke registrert | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Ikke registrert | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Ikke registrert | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ikke registrert | I 1 tilstand |
| COL17A1collagen type XVII alpha 1 chain | Ikke registrert | I 1 tilstand |
| COQ7coenzyme Q7, hydroxylase | Ikke registrert | I 1 tilstand |
| CRYAAcrystallin alpha A | Ikke registrert | I 1 tilstand |
| CRYGCcrystallin gamma C | Ikke registrert | I 1 tilstand |
| DTNBP1dystrobrevin binding protein 1 | Ikke registrert | I 1 tilstand |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Ikke registrert | I 1 tilstand |
| FHfumarate hydratase | Ikke registrert | I 1 tilstand |
| GDF3growth differentiation factor 3 | Ikke registrert | I 1 tilstand |
| GDF6growth differentiation factor 6 | Ikke registrert | I 1 tilstand |
| GPR179G protein-coupled receptor 179 | Ikke registrert | I 1 tilstand |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Ikke registrert | I 1 tilstand |
| HPS3HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 | Ikke registrert | I 1 tilstand |
| ISCA2iron-sulfur cluster assembly 2 | Ikke registrert | I 1 tilstand |
| LRPAP1LDL receptor related protein associated protein 1 | Ikke registrert | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ikke registrert | I 1 tilstand |
| MC1Rmelanocortin 1 receptor | Ikke registrert | I 1 tilstand |
| MCOLN1mucolipin TRP cation channel 1 | Ikke registrert | I 1 tilstand |
| MIR184microRNA 184 | Ikke registrert | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Ikke registrert | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ikke registrert | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ikke registrert | I 1 tilstand |
| PHF6PHD finger protein 6 | Ikke registrert | I 1 tilstand |
| PHOX2Apaired like homeobox 2A | Ikke registrert | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Ikke registrert | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ikke registrert | I 1 tilstand |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Ikke registrert | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Ikke registrert | I 1 tilstand |
| POMKprotein O-mannose kinase | Ikke registrert | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Ikke registrert | I 1 tilstand |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Ikke registrert | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ikke registrert | I 1 tilstand |
| PRNPprion protein (Kanno blood group) | Ikke registrert | I 1 tilstand |
| RBP4retinol binding protein 4 | Ikke registrert | I 1 tilstand |
| SLC45A2solute carrier family 45 member 2 | Ikke registrert | I 1 tilstand |
| SYT1synaptotagmin 1 | Ikke registrert | I 1 tilstand |
| TACSTD2tumor associated calcium signal transducer 2 | Ikke registrert | I 1 tilstand |
| TCF4transcription factor 4 | Ikke registrert | I 1 tilstand |
| TDO2tryptophan 2,3-dioxygenase | Ikke registrert | I 1 tilstand |
| TMEM126Atransmembrane protein 126A | Ikke registrert | I 1 tilstand |
| TP53RKTP53 regulating kinase | Ikke registrert | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Ikke registrert | I 1 tilstand |
| TSEN34tRNA splicing endonuclease subunit 34 | Ikke registrert | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Ikke registrert | I 1 tilstand |
| TTRtransthyretin | Ikke registrert | I 1 tilstand |
| USP45ubiquitin specific peptidase 45 | Ikke registrert | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Ikke registrert | I 1 tilstand |
| WDR45BWD repeat domain 45B | Ikke registrert | I 1 tilstand |
| ZFYVE26zinc finger FYVE-type containing 26 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
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