Kenmerk
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.
Samenvatting
- Ook bekend als
- Impaired vision, Loss of eyesight, Poor vision
- Lichaamssysteem
- Abnormality of the eye
ReferentiegenoomGRCh38hg38
Posities op gen- en variantpagina's volgen deze keuze, in deze browser.
Read the genes linked to Visual impairment, and the rest of your genome, with one test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen600 genen gekoppeld aan Visual impairment
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Visual impairment voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ACO2aconitase 2 | Altijd | In 1 aandoening |
| AFG2AAAA ATPase AFG2A | Altijd | In 2 aandoeningen |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Altijd | In 1 aandoening |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Altijd | In 1 aandoening |
| ALMS1ALMS1 centrosome and basal body associated protein | Altijd | In 2 aandoeningen |
| ARL6ARF like GTPase 6 | Altijd | In 2 aandoeningen |
| ASPAaspartoacylase | Altijd | In 1 aandoening |
| ASPHaspartate beta-hydroxylase | Altijd | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Altijd | In 1 aandoening |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| CEP290centrosomal protein 290 | Altijd | In 4 aandoeningen |
| CEP78centrosomal protein 78 | Altijd | In 1 aandoening |
| CHMCHM Rab escort protein | Altijd | In 2 aandoeningen |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Altijd | In 2 aandoeningen |
| COL18A1collagen type XVIII alpha 1 chain | Altijd | In 1 aandoening |
| CRXcone-rod homeobox | Altijd | In 3 aandoeningen |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Altijd | In 1 aandoening |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altijd | In 1 aandoening |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altijd | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Altijd | In 3 aandoeningen |
| FCSKfucose kinase | Altijd | In 1 aandoening |
| FDXRferredoxin reductase | Altijd | In 3 aandoeningen |
| GRNgranulin precursor | Altijd | In 1 aandoening |
| GTPBP2GTP binding protein 2 | Altijd | In 1 aandoening |
| HARS1histidyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| HKDC1hexokinase domain containing 1 | Altijd | In 2 aandoeningen |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Altijd | In 2 aandoeningen |
| IFT74intraflagellar transport 74 | Altijd | In 1 aandoening |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altijd | In 1 aandoening |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Altijd | In 1 aandoening |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Altijd | In 1 aandoening |
| LZTFL1leucine zipper transcription factor like 1 | Altijd | In 1 aandoening |
| MFSD8major facilitator superfamily domain containing 8 | Altijd | In 2 aandoeningen |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Altijd | In 2 aandoeningen |
| NAPBNSF attachment protein beta | Altijd | In 1 aandoening |
| NCAPG2non-SMC condensin II complex subunit G2 | Altijd | In 1 aandoening |
| NLRP1NLR family pyrin domain containing 1 | Altijd | In 1 aandoening |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Altijd | In 2 aandoeningen |
| OATornithine aminotransferase | Altijd | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Altijd | In 4 aandoeningen |
Toon nog 560 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Altijd | In 3 aandoeningen |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Altijd | In 2 aandoeningen |
| PAX6paired box 6 | Altijd | In 3 aandoeningen |
| PCDH12protocadherin 12 | Altijd | In 1 aandoening |
| PDE6Aphosphodiesterase 6A | Altijd | In 2 aandoeningen |
| PRPF6pre-mRNA processing factor 6 | Altijd | In 2 aandoeningen |
| PRPH2peripherin 2 | Altijd | In 6 aandoeningen |
| RBP3retinol binding protein 3 | Altijd | In 2 aandoeningen |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Altijd | In 2 aandoeningen |
| SCO2synthesis of cytochrome C oxidase 2 | Altijd | In 1 aandoening |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Altijd | In 2 aandoeningen |
| SDHDsuccinate dehydrogenase complex subunit D | Altijd | In 1 aandoening |
| SFXN4sideroflexin 4 | Altijd | In 1 aandoening |
| SLC24A5solute carrier family 24 member 5 | Altijd | In 1 aandoening |
| TBC1D20TBC1 domain family member 20 | Altijd | In 1 aandoening |
| TENM3teneurin transmembrane protein 3 | Altijd | In 1 aandoening |
| TGFBItransforming growth factor beta induced | Altijd | In 4 aandoeningen |
| TMEM53transmembrane protein 53 | Altijd | In 1 aandoening |
| TMEM63Btransmembrane protein 63B | Altijd | In 1 aandoening |
| TSEN2tRNA splicing endonuclease subunit 2 | Altijd | In 1 aandoening |
| TUBTUB bipartite transcription factor | Altijd | In 2 aandoeningen |
| VPS4Avacuolar protein sorting 4 homolog A | Altijd | In 1 aandoening |
| WDR19WD repeat domain 19 | Altijd | In 3 aandoeningen |
| YME1L1YME1 like 1 ATPase | Altijd | In 1 aandoening |
| ZFXzinc finger protein X-linked | Altijd | In 1 aandoening |
| ABCA4ATP binding cassette subfamily A member 4 | Heel vaak (80–99%) | In 3 aandoeningen |
| AGBL5AGBL carboxypeptidase 5 | Heel vaak (80–99%) | In 1 aandoening |
| AHI1Abelson helper integration site 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| AHRaryl hydrocarbon receptor | Heel vaak (80–99%) | In 1 aandoening |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Heel vaak (80–99%) | In 1 aandoening |
| ARL2BPARF like GTPase 2 binding protein | Heel vaak (80–99%) | In 1 aandoening |
| ARL3ARF like GTPase 3 | Heel vaak (80–99%) | In 1 aandoening |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Heel vaak (80–99%) | In 1 aandoening |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Heel vaak (80–99%) | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Heel vaak (80–99%) | In 1 aandoening |
| BBS2Bardet-Biedl syndrome 2 | Heel vaak (80–99%) | In 1 aandoening |
| BEST1bestrophin 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| CA4carbonic anhydrase 4 | Heel vaak (80–99%) | In 1 aandoening |
| CC2D2Acoiled-coil and C2 domain containing 2A | Heel vaak (80–99%) | In 3 aandoeningen |
| CDHR1cadherin related family member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CEP164centrosomal protein 164 | Heel vaak (80–99%) | In 1 aandoening |
| CERKLCERK like autophagy regulator | Heel vaak (80–99%) | In 2 aandoeningen |
| CFAP20cilia and flagella associated protein 20 | Heel vaak (80–99%) | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Heel vaak (80–99%) | In 2 aandoeningen |
| CLCN7Cl-/H+ antiporter 7 | Heel vaak (80–99%) | In 4 aandoeningen |
| CLN8CLN8 transmembrane ER and ERGIC protein | Heel vaak (80–99%) | In 1 aandoening |
| CLRN1clarin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Heel vaak (80–99%) | In 1 aandoening |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Heel vaak (80–99%) | In 1 aandoening |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Heel vaak (80–99%) | In 1 aandoening |
| COQ8Bcoenzyme Q8B | Heel vaak (80–99%) | In 1 aandoening |
| CRB1crumbs cell polarity complex component 1 | Heel vaak (80–99%) | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Heel vaak (80–99%) | In 1 aandoening |
| CTNScystinosin, lysosomal cystine transporter | Heel vaak (80–99%) | In 2 aandoeningen |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Heel vaak (80–99%) | In 1 aandoening |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Heel vaak (80–99%) | In 1 aandoening |
| DHX38DEAH-box helicase 38 | Heel vaak (80–99%) | In 1 aandoening |
| DNM1Ldynamin 1L | Heel vaak (80–99%) | In 1 aandoening |
| EXOSC8exosome component 8 | Heel vaak (80–99%) | In 1 aandoening |
| EYSEGF-like photoreceptor maintenance factor | Heel vaak (80–99%) | In 1 aandoening |
| FAM161AFAM161 centrosomal protein A | Heel vaak (80–99%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| FKRPfukutin related protein | Heel vaak (80–99%) | In 1 aandoening |
| FKTNfukutin | Heel vaak (80–99%) | In 2 aandoeningen |
| FSCN2fascin actin-bundling protein 2, retinal | Heel vaak (80–99%) | In 2 aandoeningen |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Heel vaak (80–99%) | In 2 aandoeningen |
| GMPPBGDP-mannose pyrophosphorylase B | Heel vaak (80–99%) | In 1 aandoening |
| GNAT2G protein subunit alpha transducin 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| GUCA1Aguanylate cyclase activator 1A | Heel vaak (80–99%) | In 3 aandoeningen |
| GUCA1Bguanylate cyclase activator 1B | Heel vaak (80–99%) | In 2 aandoeningen |
| HESX1HESX homeobox 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Heel vaak (80–99%) | In 1 aandoening |
| IFT140intraflagellar transport 140 | Heel vaak (80–99%) | In 1 aandoening |
| IFT172intraflagellar transport 172 | Heel vaak (80–99%) | In 1 aandoening |
| IFT43intraflagellar transport 43 | Heel vaak (80–99%) | In 1 aandoening |
| IFT54intraflagellar transport 54 | Heel vaak (80–99%) | In 1 aandoening |
| IFT88intraflagellar transport 88 | Heel vaak (80–99%) | In 1 aandoening |
| IMPDH1inosine monophosphate dehydrogenase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| INPP5Einositol polyphosphate-5-phosphatase E | Heel vaak (80–99%) | In 2 aandoeningen |
| INVSinversin | Heel vaak (80–99%) | In 1 aandoening |
| IQCB1IQ motif containing B1 | Heel vaak (80–99%) | In 1 aandoening |
| KIAA1549KIAA1549 | Heel vaak (80–99%) | In 1 aandoening |
| KIZkizuna centrosomal protein | Heel vaak (80–99%) | In 1 aandoening |
| KLHL7kelch like family member 7 | Heel vaak (80–99%) | In 1 aandoening |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| LRATlecithin retinol acyltransferase | Heel vaak (80–99%) | In 2 aandoeningen |
| LSSlanosterol synthase | Heel vaak (80–99%) | In 1 aandoening |
| MAKmale germ cell associated kinase | Heel vaak (80–99%) | In 1 aandoening |
| MERTKMER proto-oncogene, tyrosine kinase | Heel vaak (80–99%) | In 1 aandoening |
| MTRFRmitochondrial translation release factor in rescue | Heel vaak (80–99%) | In 2 aandoeningen |
| NEK2NIMA related kinase 2 | Heel vaak (80–99%) | In 1 aandoening |
| NEU1neuraminidase 1 | Heel vaak (80–99%) | In 1 aandoening |
| NHSNHS actin remodeling regulator | Heel vaak (80–99%) | In 1 aandoening |
| NPHP1nephrocystin 1 | Heel vaak (80–99%) | In 1 aandoening |
| NPHP3nephrocystin 3 | Heel vaak (80–99%) | In 1 aandoening |
| NPHP4nephrocystin 4 | Heel vaak (80–99%) | In 1 aandoening |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Heel vaak (80–99%) | In 1 aandoening |
| NRLneural retina leucine zipper | Heel vaak (80–99%) | In 2 aandoeningen |
| OFD1OFD1 centriole and centriolar satellite protein | Heel vaak (80–99%) | In 1 aandoening |
| OTX2orthodenticle homeobox 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| PCAREphotoreceptor cilium actin regulator | Heel vaak (80–99%) | In 2 aandoeningen |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Heel vaak (80–99%) | In 1 aandoening |
| PDE6Bphosphodiesterase 6B | Heel vaak (80–99%) | In 1 aandoening |
| PDE6Cphosphodiesterase 6C | Heel vaak (80–99%) | In 2 aandoeningen |
| PDE6Gphosphodiesterase 6G | Heel vaak (80–99%) | In 1 aandoening |
| PEX1peroxisomal biogenesis factor 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX10peroxisomal biogenesis factor 10 | Heel vaak (80–99%) | In 4 aandoeningen |
| PEX11Bperoxisomal biogenesis factor 11 beta | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX12peroxisomal biogenesis factor 12 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX13peroxisomal biogenesis factor 13 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX14peroxisomal biogenesis factor 14 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX16peroxisomal biogenesis factor 16 | Heel vaak (80–99%) | In 4 aandoeningen |
| PEX19peroxisomal biogenesis factor 19 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX2peroxisomal biogenesis factor 2 | Heel vaak (80–99%) | In 4 aandoeningen |
| PEX26peroxisomal biogenesis factor 26 | Heel vaak (80–99%) | In 4 aandoeningen |
| PEX3peroxisomal biogenesis factor 3 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX5peroxisomal biogenesis factor 5 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX6peroxisomal biogenesis factor 6 | Heel vaak (80–99%) | In 4 aandoeningen |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Heel vaak (80–99%) | In 2 aandoeningen |
| POMT1protein O-mannosyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| POMT2protein O-mannosyltransferase 2 | Heel vaak (80–99%) | In 1 aandoening |
| PPIBpeptidylprolyl isomerase B | Heel vaak (80–99%) | In 1 aandoening |
| PRCDphotoreceptor disc component | Heel vaak (80–99%) | In 1 aandoening |
| PROKR2prokineticin receptor 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| PROM1prominin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PRPF3pre-mRNA processing factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF31pre-mRNA processing factor 31 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF8pre-mRNA processing factor 8 | Heel vaak (80–99%) | In 1 aandoening |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Heel vaak (80–99%) | In 1 aandoening |
| RDH12retinol dehydrogenase 12 | Heel vaak (80–99%) | In 1 aandoening |
| REEP6receptor accessory protein 6 | Heel vaak (80–99%) | In 1 aandoening |
| RGRretinal G protein coupled receptor | Heel vaak (80–99%) | In 2 aandoeningen |
| RGS9regulator of G protein signaling 9 | Heel vaak (80–99%) | In 1 aandoening |
| RGS9BPregulator of G protein signaling 9 binding protein | Heel vaak (80–99%) | In 1 aandoening |
| RHOrhodopsin | Heel vaak (80–99%) | In 1 aandoening |
| RLBP1retinaldehyde binding protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Heel vaak (80–99%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Heel vaak (80–99%) | In 1 aandoening |
| RNU6-1RNA, U6 small nuclear 1 | Heel vaak (80–99%) | In 1 aandoening |
| RNU6-2RNA, U6 small nuclear 2 | Heel vaak (80–99%) | In 1 aandoening |
| RNU6-8RNA, U6 small nuclear 8 | Heel vaak (80–99%) | In 1 aandoening |
| RNU6-9RNA, U6 small nuclear 9 | Heel vaak (80–99%) | In 1 aandoening |
| ROM1retinal outer segment membrane protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| RP1RP1 axonemal microtubule associated | Heel vaak (80–99%) | In 1 aandoening |
| RP1L1RP1 like 1 | Heel vaak (80–99%) | In 1 aandoening |
| RP2RP2 activator of ARL3 GTPase | Heel vaak (80–99%) | In 1 aandoening |
| RP9RP9 pre-mRNA splicing factor | Heel vaak (80–99%) | In 1 aandoening |
| RPE65retinoid isomerohydrolase RPE65 | Heel vaak (80–99%) | In 3 aandoeningen |
| RPGRretinitis pigmentosa GTPase regulator | Heel vaak (80–99%) | In 3 aandoeningen |
| SAGS-antigen visual arrestin | Heel vaak (80–99%) | In 3 aandoeningen |
| SAXO6stabilizer of axonemal microtubules 6 | Heel vaak (80–99%) | In 1 aandoening |
| SCAPERS-phase cyclin A associated protein in the ER | Heel vaak (80–99%) | In 1 aandoening |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Heel vaak (80–99%) | In 1 aandoening |
| SEMA4Asemaphorin 4A | Heel vaak (80–99%) | In 3 aandoeningen |
| SLC38A3solute carrier family 38 member 3 | Heel vaak (80–99%) | In 1 aandoening |
| SLC4A11solute carrier family 4 member 11 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC7A14solute carrier family 7 member 14 | Heel vaak (80–99%) | In 1 aandoening |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Heel vaak (80–99%) | In 2 aandoeningen |
| SNX10sorting nexin 10 | Heel vaak (80–99%) | In 1 aandoening |
| SOX2SRY-box transcription factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| SOX3SRY-box transcription factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| SPATA7spermatogenesis associated 7 | Heel vaak (80–99%) | In 2 aandoeningen |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Heel vaak (80–99%) | In 1 aandoening |
| SUMF1sulfatase modifying factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Heel vaak (80–99%) | In 3 aandoeningen |
| TMEM216transmembrane protein 216 | Heel vaak (80–99%) | In 3 aandoeningen |
| TNFSF11TNF superfamily member 11 | Heel vaak (80–99%) | In 1 aandoening |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Heel vaak (80–99%) | In 1 aandoening |
| TSEN54tRNA splicing endonuclease subunit 54 | Heel vaak (80–99%) | In 1 aandoening |
| TTC8tetratricopeptide repeat domain 8 | Heel vaak (80–99%) | In 2 aandoeningen |
| TULP1TUB like protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| USH2Ausherin | Heel vaak (80–99%) | In 2 aandoeningen |
| WACWW domain containing adaptor with coiled-coil | Heel vaak (80–99%) | In 1 aandoening |
| ZNF408zinc finger protein 408 | Heel vaak (80–99%) | In 1 aandoening |
| ZNF513zinc finger protein 513 | Heel vaak (80–99%) | In 1 aandoening |
| ABCC6ATP binding cassette subfamily C member 6 | Vaak (30–79%) | In 3 aandoeningen |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Vaak (30–79%) | In 1 aandoening |
| AMACRalpha-methylacyl-CoA racemase | Vaak (30–79%) | In 1 aandoening |
| ANTXR1ANTXR cell adhesion molecule 1 | Vaak (30–79%) | In 1 aandoening |
| ARID1AAT-rich interaction domain 1A | Vaak (30–79%) | In 2 aandoeningen |
| ARID1BAT-rich interaction domain 1B | Vaak (30–79%) | In 2 aandoeningen |
| ARID2AT-rich interaction domain 2 | Vaak (30–79%) | In 1 aandoening |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Vaak (30–79%) | In 1 aandoening |
| ATRXATRX chromatin remodeler | Vaak (30–79%) | In 1 aandoening |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Vaak (30–79%) | In 1 aandoening |
| BCL11ABCL11 transcription factor A | Vaak (30–79%) | In 1 aandoening |
| BDNFbrain derived neurotrophic factor | Vaak (30–79%) | In 1 aandoening |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Vaak (30–79%) | In 1 aandoening |
| CABP4calcium binding protein 4 | Vaak (30–79%) | In 2 aandoeningen |
| CASKcalcium/calmodulin dependent serine protein kinase | Vaak (30–79%) | In 1 aandoening |
| CCT3chaperonin containing TCP1 subunit 3 | Vaak (30–79%) | In 1 aandoening |
| CHD6chromodomain helicase DNA binding protein 6 | Vaak (30–79%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Vaak (30–79%) | In 1 aandoening |
| COG3component of oligomeric golgi complex 3 | Vaak (30–79%) | In 1 aandoening |
| COL11A1collagen type XI alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COQ4coenzyme Q4 | Vaak (30–79%) | In 1 aandoening |
| COX11cytochrome c oxidase copper chaperone COX11 | Vaak (30–79%) | In 1 aandoening |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Vaak (30–79%) | In 1 aandoening |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Vaak (30–79%) | In 1 aandoening |
| DCCDCC netrin 1 receptor | Vaak (30–79%) | In 2 aandoeningen |
| DDR2discoidin domain receptor tyrosine kinase 2 | Vaak (30–79%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Vaak (30–79%) | In 1 aandoening |
| DOCK6dedicator of cytokinesis 6 | Vaak (30–79%) | In 1 aandoening |
| DPF2double PHD fingers 2 | Vaak (30–79%) | In 1 aandoening |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| EIF4Heukaryotic translation initiation factor 4H | Vaak (30–79%) | In 1 aandoening |
| ELNelastin | Vaak (30–79%) | In 1 aandoening |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Vaak (30–79%) | In 2 aandoeningen |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Vaak (30–79%) | In 1 aandoening |
| ERCC5ERCC excision repair 5, endonuclease | Vaak (30–79%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Vaak (30–79%) | In 3 aandoeningen |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Vaak (30–79%) | In 2 aandoeningen |
| FASFas cell surface death receptor | Vaak (30–79%) | In 1 aandoening |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Vaak (30–79%) | In 1 aandoening |
| GJA1gap junction protein alpha 1 | Vaak (30–79%) | In 2 aandoeningen |
| GLRX5glutaredoxin 5 | Vaak (30–79%) | In 2 aandoeningen |
| GNSglucosamine (N-acetyl)-6-sulfatase | Vaak (30–79%) | In 1 aandoening |
| GSNgelsolin | Vaak (30–79%) | In 1 aandoening |
| GTF2Igeneral transcription factor IIi | Vaak (30–79%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| GUCY2Dguanylate cyclase 2D, retinal | Vaak (30–79%) | In 2 aandoeningen |
| GUSBglucuronidase beta | Vaak (30–79%) | In 1 aandoening |
| HIKESHIheat shock protein nuclear import factor hikeshi | Vaak (30–79%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Vaak (30–79%) | In 3 aandoeningen |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Vaak (30–79%) | In 2 aandoeningen |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Vaak (30–79%) | In 1 aandoening |
| IBA57iron-sulfur cluster assembly factor IBA57 | Vaak (30–79%) | In 4 aandoeningen |
| IGBP1immunoglobulin binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| JKAMPJNK1/MAPK8 associated membrane protein | Vaak (30–79%) | In 1 aandoening |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Vaak (30–79%) | In 2 aandoeningen |
| LAMP2lysosome associated membrane protein 2 | Vaak (30–79%) | In 1 aandoening |
| LCA5lebercilin LCA5 | Vaak (30–79%) | In 2 aandoeningen |
| LIMK1LIM domain kinase 1 | Vaak (30–79%) | In 1 aandoening |
| LYRM7LYR motif containing 7 | Vaak (30–79%) | In 1 aandoening |
| MAB21L1mab-21 like 1 | Vaak (30–79%) | In 2 aandoeningen |
| MAFMAF bZIP transcription factor | Vaak (30–79%) | In 1 aandoening |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Vaak (30–79%) | In 1 aandoening |
| METTL27methyltransferase like 27 | Vaak (30–79%) | In 1 aandoening |
| MFFmitochondrial fission factor | Vaak (30–79%) | In 2 aandoeningen |
| MMACHCmetabolism of cobalamin associated C | Vaak (30–79%) | In 2 aandoeningen |
| MYOCmyocilin | Vaak (30–79%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Vaak (30–79%) | In 1 aandoening |
| NLRP3NLR family pyrin domain containing 3 | Vaak (30–79%) | In 1 aandoening |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Vaak (30–79%) | In 1 aandoening |
| PAX2paired box 2 | Vaak (30–79%) | In 1 aandoening |
| PEPDpeptidase D | Vaak (30–79%) | In 1 aandoening |
| PEX7peroxisomal biogenesis factor 7 | Vaak (30–79%) | In 1 aandoening |
| PHYHphytanoyl-CoA 2-hydroxylase | Vaak (30–79%) | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Vaak (30–79%) | In 1 aandoening |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Vaak (30–79%) | In 1 aandoening |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Vaak (30–79%) | In 1 aandoening |
| PLK4polo like kinase 4 | Vaak (30–79%) | In 2 aandoeningen |
| POGZpogo transposable element derived with ZNF domain | Vaak (30–79%) | In 2 aandoeningen |
| POLR1BRNA polymerase I subunit B | Vaak (30–79%) | In 1 aandoening |
| POLR1CRNA polymerase I and III subunit C | Vaak (30–79%) | In 1 aandoening |
| POLR1DRNA polymerase I and III subunit D | Vaak (30–79%) | In 1 aandoening |
| POLR2ARNA polymerase II subunit A | Vaak (30–79%) | In 1 aandoening |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Vaak (30–79%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Vaak (30–79%) | In 3 aandoeningen |
| RELREL proto-oncogene, NF-kB subunit | Vaak (30–79%) | In 1 aandoening |
| RFC2replication factor C subunit 2 | Vaak (30–79%) | In 1 aandoening |
| RFT1RFT1 glycolipid translocator homolog | Vaak (30–79%) | In 1 aandoening |
| ROBO3roundabout guidance receptor 3 | Vaak (30–79%) | In 1 aandoening |
| RPGRIP1LRPGRIP1 like | Vaak (30–79%) | In 1 aandoening |
| RTN2reticulon 2 | Vaak (30–79%) | In 1 aandoening |
| SALL4spalt like transcription factor 4 | Vaak (30–79%) | In 1 aandoening |
| SETBP1SET binding protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Vaak (30–79%) | In 1 aandoening |
| SLC25A46solute carrier family 25 member 46 | Vaak (30–79%) | In 1 aandoening |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Vaak (30–79%) | In 2 aandoeningen |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Vaak (30–79%) | In 2 aandoeningen |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Vaak (30–79%) | In 1 aandoening |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Vaak (30–79%) | In 1 aandoening |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Vaak (30–79%) | In 1 aandoening |
| SMG9SMG9 nonsense mediated mRNA decay factor | Vaak (30–79%) | In 1 aandoening |
| SOX11SRY-box transcription factor 11 | Vaak (30–79%) | In 1 aandoening |
| SOX4SRY-box transcription factor 4 | Vaak (30–79%) | In 1 aandoening |
| SRSF1serine and arginine rich splicing factor 1 | Vaak (30–79%) | In 1 aandoening |
| STX1Asyntaxin 1A | Vaak (30–79%) | In 1 aandoening |
| SYNJ1synaptojanin 1 | Vaak (30–79%) | In 1 aandoening |
| TBL2transducin beta like 2 | Vaak (30–79%) | In 1 aandoening |
| TCOF1treacle ribosome biogenesis factor 1 | Vaak (30–79%) | In 1 aandoening |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Vaak (30–79%) | In 2 aandoeningen |
| TMEM138transmembrane protein 138 | Vaak (30–79%) | In 1 aandoening |
| TMEM231transmembrane protein 231 | Vaak (30–79%) | In 1 aandoening |
| TMEM237transmembrane protein 237 | Vaak (30–79%) | In 1 aandoening |
| TMEM270transmembrane protein 270 | Vaak (30–79%) | In 1 aandoening |
| TMEM67transmembrane protein 67 | Vaak (30–79%) | In 1 aandoening |
| TSPAN12tetraspanin 12 | Vaak (30–79%) | In 1 aandoening |
| TUBGCP4tubulin gamma complex component 4 | Vaak (30–79%) | In 2 aandoeningen |
| TUBGCP6tubulin gamma complex component 6 | Vaak (30–79%) | In 2 aandoeningen |
| TWIST2twist family bHLH transcription factor 2 | Vaak (30–79%) | In 1 aandoening |
| TYRtyrosinase | Vaak (30–79%) | In 4 aandoeningen |
| VPS37DVPS37D subunit of ESCRT-I | Vaak (30–79%) | In 1 aandoening |
| WT1WT1 transcription factor | Vaak (30–79%) | In 1 aandoening |
| XPO1exportin 1 | Vaak (30–79%) | In 1 aandoening |
| XYLT1xylosyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| XYLT2xylosyltransferase 2 | Vaak (30–79%) | In 2 aandoeningen |
| ZNF423zinc finger protein 423 | Vaak (30–79%) | In 1 aandoening |
| ZSCAN10zinc finger and SCAN domain containing 10 | Vaak (30–79%) | In 1 aandoening |
| AAASaladin WD repeat nucleoporin | Soms (5–29%) | In 1 aandoening |
| ADAM9ADAM metallopeptidase domain 9 | Soms (5–29%) | In 2 aandoeningen |
| ADAMTSL4ADAMTS like 4 | Soms (5–29%) | In 1 aandoening |
| AGO2argonaute RISC catalytic component 2 | Soms (5–29%) | In 1 aandoening |
| AIPL1AIP like 1 HSP90 co-chaperone | Soms (5–29%) | In 1 aandoening |
| ANKHANKH inorganic pyrophosphate transport regulator | Soms (5–29%) | In 1 aandoening |
| ANKRD11ankyrin repeat domain 11 | Soms (5–29%) | In 1 aandoening |
| ANOS1anosmin 1 | Soms (5–29%) | In 1 aandoening |
| ATF6activating transcription factor 6 | Soms (5–29%) | In 1 aandoening |
| ATMATM serine/threonine kinase | Soms (5–29%) | In 1 aandoening |
| B3GLCTbeta 3-glucosyltransferase | Soms (5–29%) | In 1 aandoening |
| BCL10BCL10 immune signaling adaptor | Soms (5–29%) | In 1 aandoening |
| BCORBCL6 corepressor | Soms (5–29%) | In 1 aandoening |
| BIRC3baculoviral IAP repeat containing 3 | Soms (5–29%) | In 1 aandoening |
| BMPR1Abone morphogenetic protein receptor type 1A | Soms (5–29%) | In 1 aandoening |
| BOLA3bolA family member 3 | Soms (5–29%) | In 1 aandoening |
| BRCA1BRCA1 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 2 aandoeningen |
| BRIP1BRCA1 interacting DNA helicase 1 | Soms (5–29%) | In 1 aandoening |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Soms (5–29%) | In 3 aandoeningen |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Soms (5–29%) | In 2 aandoeningen |
| CALRcalreticulin | Soms (5–29%) | In 1 aandoening |
| CASZ1castor zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| CBScystathionine beta-synthase | Soms (5–29%) | In 1 aandoening |
| CCDC141coiled-coil domain containing 141 | Soms (5–29%) | In 1 aandoening |
| CDK8cyclin dependent kinase 8 | Soms (5–29%) | In 1 aandoening |
| CFAP410cilia and flagella associated protein 410 | Soms (5–29%) | In 1 aandoening |
| CHD7chromodomain helicase DNA binding protein 7 | Soms (5–29%) | In 1 aandoening |
| CHEK2checkpoint kinase 2 | Soms (5–29%) | In 1 aandoening |
| CLTCclathrin heavy chain | Soms (5–29%) | In 1 aandoening |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Soms (5–29%) | In 1 aandoening |
| COL2A1collagen type II alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COX7Bcytochrome c oxidase subunit 7B | Soms (5–29%) | In 1 aandoening |
| CSF1Rcolony stimulating factor 1 receptor | Soms (5–29%) | In 1 aandoening |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Soms (5–29%) | In 1 aandoening |
| DDX3XDEAD-box helicase 3 X-linked | Soms (5–29%) | In 1 aandoening |
| DOLKdolichol kinase | Soms (5–29%) | In 1 aandoening |
| DRAM2DNA damage regulated autophagy modulator 2 | Soms (5–29%) | In 1 aandoening |
| DUSP6dual specificity phosphatase 6 | Soms (5–29%) | In 1 aandoening |
| EMX2empty spiracles homeobox 2 | Soms (5–29%) | In 1 aandoening |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Soms (5–29%) | In 1 aandoening |
| EPCAMepithelial cell adhesion molecule | Soms (5–29%) | In 1 aandoening |
| FAAP100FA core complex associated protein 100 | Soms (5–29%) | In 1 aandoening |
| FANCAFA complementation group A | Soms (5–29%) | In 1 aandoening |
| FANCBFA complementation group B | Soms (5–29%) | In 1 aandoening |
| FANCCFA complementation group C | Soms (5–29%) | In 1 aandoening |
| FANCD2FA complementation group D2 | Soms (5–29%) | In 1 aandoening |
| FANCEFA complementation group E | Soms (5–29%) | In 1 aandoening |
| FANCFFA complementation group F | Soms (5–29%) | In 1 aandoening |
| FANCGFA complementation group G | Soms (5–29%) | In 1 aandoening |
| FANCIFA complementation group I | Soms (5–29%) | In 1 aandoening |
| FANCLFA complementation group L | Soms (5–29%) | In 1 aandoening |
| FANCMFA complementation group M | Soms (5–29%) | In 1 aandoening |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| FBN1fibrillin 1 | Soms (5–29%) | In 1 aandoening |
| FBXO22F-box protein 22 | Soms (5–29%) | In 1 aandoening |
| FEZF1FEZ family zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| FGF17fibroblast growth factor 17 | Soms (5–29%) | In 1 aandoening |
| FGF8fibroblast growth factor 8 | Soms (5–29%) | In 1 aandoening |
| FGFR2fibroblast growth factor receptor 2 | Soms (5–29%) | In 2 aandoeningen |
| FGFR3fibroblast growth factor receptor 3 | Soms (5–29%) | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Soms (5–29%) | In 1 aandoening |
| FILIP1filamin A interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Soms (5–29%) | In 1 aandoening |
| FN1fibronectin 1 | Soms (5–29%) | In 1 aandoening |
| FOXP1forkhead box P1 | Soms (5–29%) | In 1 aandoening |
| FXNfrataxin | Soms (5–29%) | In 1 aandoening |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Soms (5–29%) | In 1 aandoening |
| GALCgalactosylceramidase | Soms (5–29%) | In 1 aandoening |
| GMPPAGDP-mannose pyrophosphorylase A | Soms (5–29%) | In 1 aandoening |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Soms (5–29%) | In 2 aandoeningen |
| GPR143G protein-coupled receptor 143 | Soms (5–29%) | In 1 aandoening |
| GTPBP3GTP binding protein 3, mitochondrial | Soms (5–29%) | In 2 aandoeningen |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Soms (5–29%) | In 1 aandoening |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Soms (5–29%) | In 1 aandoening |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Soms (5–29%) | In 1 aandoening |
| IGHimmunoglobulin heavy locus | Soms (5–29%) | In 1 aandoening |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Soms (5–29%) | In 1 aandoening |
| IKZF1IKAROS family zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| IL12Binterleukin 12B | Soms (5–29%) | In 1 aandoening |
| IL17RDinterleukin 17 receptor D | Soms (5–29%) | In 1 aandoening |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Soms (5–29%) | In 1 aandoening |
| JAK2Janus kinase 2 | Soms (5–29%) | In 1 aandoening |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Soms (5–29%) | In 1 aandoening |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Soms (5–29%) | In 1 aandoening |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Soms (5–29%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Soms (5–29%) | In 1 aandoening |
| LAMA3laminin subunit alpha 3 | Soms (5–29%) | In 1 aandoening |
| LAMB2laminin subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| LCATlecithin-cholesterol acyltransferase | Soms (5–29%) | In 1 aandoening |
| LRP5LDL receptor related protein 5 | Soms (5–29%) | In 1 aandoening |
| LUZP1leucine zipper protein 1 | Soms (5–29%) | In 1 aandoening |
| MAD2L2mitotic arrest deficient 2 like 2 | Soms (5–29%) | In 1 aandoening |
| MALT1MALT1 paracaspase | Soms (5–29%) | In 1 aandoening |
| MLH1mutL homolog 1 | Soms (5–29%) | In 1 aandoening |
| MLXMAX dimerization protein MLX | Soms (5–29%) | In 1 aandoening |
| MMP23Bmatrix metallopeptidase 23B | Soms (5–29%) | In 1 aandoening |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Soms (5–29%) | In 1 aandoening |
| MPLMPL proto-oncogene, thrombopoietin receptor | Soms (5–29%) | In 1 aandoening |
| MSH2mutS homolog 2 | Soms (5–29%) | In 1 aandoening |
| MSH6mutS homolog 6 | Soms (5–29%) | In 1 aandoening |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Soms (5–29%) | In 1 aandoening |
| MUTYHmutY DNA glycosylase | Soms (5–29%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NDNFneuron derived neurotrophic factor | Soms (5–29%) | In 1 aandoening |
| NOTCH3notch receptor 3 | Soms (5–29%) | In 1 aandoening |
| NPATnuclear protein, coactivator of histone transcription | Soms (5–29%) | In 1 aandoening |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Soms (5–29%) | In 1 aandoening |
| OPN1LWopsin 1, long wave sensitive | Soms (5–29%) | In 3 aandoeningen |
| OPN1MWopsin 1, medium wave sensitive | Soms (5–29%) | In 3 aandoeningen |
| PALB2partner and localizer of BRCA2 | Soms (5–29%) | In 1 aandoening |
| PDE4Dphosphodiesterase 4D | Soms (5–29%) | In 1 aandoening |
| PDPNpodoplanin | Soms (5–29%) | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Soms (5–29%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| PITPNM3PITPNM family member 3 | Soms (5–29%) | In 1 aandoening |
| PLCB1phospholipase C beta 1 | Soms (5–29%) | In 1 aandoening |
| PLXND1plexin D1 | Soms (5–29%) | In 1 aandoening |
| PMS1PMS1 homolog 1, mismatch repair system component | Soms (5–29%) | In 1 aandoening |
| PMS2PMS1 homolog 2, mismatch repair system component | Soms (5–29%) | In 1 aandoening |
| POC1BPOC1 centriolar protein B | Soms (5–29%) | In 2 aandoeningen |
| POLD1DNA polymerase delta 1, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| POLEDNA polymerase epsilon, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| POLGDNA polymerase gamma, catalytic subunit | Soms (5–29%) | In 3 aandoeningen |
| POLG2DNA polymerase gamma 2, accessory subunit | Soms (5–29%) | In 1 aandoening |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Soms (5–29%) | In 1 aandoening |
| PRDM16PR/SET domain 16 | Soms (5–29%) | In 1 aandoening |
| PRKCZprotein kinase C zeta | Soms (5–29%) | In 1 aandoening |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| PROK2prokineticin 2 | Soms (5–29%) | In 1 aandoening |
| PRTN3proteinase 3 | Soms (5–29%) | In 1 aandoening |
| PUS3pseudouridine synthase 3 | Soms (5–29%) | In 1 aandoening |
| RAB11BRAB11B, member RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RAB28RAB28, member RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RAB3ARAB3A, member RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RAD51RAD51 recombinase | Soms (5–29%) | In 1 aandoening |
| RAD51CRAD51 paralog C | Soms (5–29%) | In 1 aandoening |
| RAX2retina and anterior neural fold homeobox 2 | Soms (5–29%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Soms (5–29%) | In 1 aandoening |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Soms (5–29%) | In 1 aandoening |
| RFWD3ring finger and WD repeat domain 3 | Soms (5–29%) | In 1 aandoening |
| RIMS1regulating synaptic membrane exocytosis 1 | Soms (5–29%) | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Soms (5–29%) | In 1 aandoening |
| RPGRIP1RPGR interacting protein 1 | Soms (5–29%) | In 2 aandoeningen |
| RPS20ribosomal protein S20 | Soms (5–29%) | In 1 aandoening |
| RRM1ribonucleotide reductase catalytic subunit M1 | Soms (5–29%) | In 1 aandoening |
| SAR1Bsecretion associated Ras related GTPase 1B | Soms (5–29%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Soms (5–29%) | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Soms (5–29%) | In 1 aandoening |
| SEMA3Asemaphorin 3A | Soms (5–29%) | In 1 aandoening |
| SH2B3SH2B adaptor protein 3 | Soms (5–29%) | In 1 aandoening |
| SH3BP2SH3 domain binding protein 2 | Soms (5–29%) | In 2 aandoeningen |
| SKISKI proto-oncogene | Soms (5–29%) | In 1 aandoening |
| SLC12A5solute carrier family 12 member 5 | Soms (5–29%) | In 1 aandoening |
| SLC25A22solute carrier family 25 member 22 | Soms (5–29%) | In 1 aandoening |
| SLC25A4solute carrier family 25 member 4 | Soms (5–29%) | In 1 aandoening |
| SLC39A4solute carrier family 39 member 4 | Soms (5–29%) | In 1 aandoening |
| SLX4SLX4 structure-specific endonuclease subunit | Soms (5–29%) | In 1 aandoening |
| SOBPsine oculis binding protein homolog | Soms (5–29%) | In 1 aandoening |
| SOX10SRY-box transcription factor 10 | Soms (5–29%) | In 1 aandoening |
| SPENspen family transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Soms (5–29%) | In 2 aandoeningen |
| SPRY4sprouty RTK signaling antagonist 4 | Soms (5–29%) | In 1 aandoening |
| SRYsex determining region Y | Soms (5–29%) | In 1 aandoening |
| TACR3tachykinin receptor 3 | Soms (5–29%) | In 1 aandoening |
| TAOK1TAO kinase 1 | Soms (5–29%) | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Soms (5–29%) | In 1 aandoening |
| TCP1t-complex 1 | Soms (5–29%) | In 1 aandoening |
| TET2tet methylcytosine dioxygenase 2 | Soms (5–29%) | In 1 aandoening |
| TGFBR2transforming growth factor beta receptor 2 | Soms (5–29%) | In 1 aandoening |
| THOC2THO complex subunit 2 | Soms (5–29%) | In 1 aandoening |
| TK2thymidine kinase 2 | Soms (5–29%) | In 1 aandoening |
| TLCD3BTLC domain containing 3B | Soms (5–29%) | In 1 aandoening |
| TOP3ADNA topoisomerase III alpha | Soms (5–29%) | In 1 aandoening |
| TP53tumor protein p53 | Soms (5–29%) | In 2 aandoeningen |
| TRAPPC11trafficking protein particle complex subunit 11 | Soms (5–29%) | In 1 aandoening |
| TRRAPtransformation/transcription domain associated protein | Soms (5–29%) | In 1 aandoening |
| TTLL5tubulin tyrosine ligase like 5 | Soms (5–29%) | In 1 aandoening |
| TTPAalpha tocopherol transfer protein | Soms (5–29%) | In 1 aandoening |
| TUBB4Atubulin beta 4A class IVa | Soms (5–29%) | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Soms (5–29%) | In 1 aandoening |
| UBAP1Lubiquitin associated protein 1 like | Soms (5–29%) | In 1 aandoening |
| UBAP2Lubiquitin associated protein 2 like | Soms (5–29%) | In 1 aandoening |
| UBE2Tubiquitin conjugating enzyme E2 T | Soms (5–29%) | In 1 aandoening |
| UBE4Bubiquitination factor E4B | Soms (5–29%) | In 1 aandoening |
| UNC119unc-119 lipid binding chaperone | Soms (5–29%) | In 1 aandoening |
| WDR11WD repeat domain 11 | Soms (5–29%) | In 1 aandoening |
| XRCC2X-ray repair cross complementing 2 | Soms (5–29%) | In 1 aandoening |
| YAP1Yes1 associated transcriptional regulator | Soms (5–29%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Soms (5–29%) | In 1 aandoening |
| ACBD6acyl-CoA binding domain containing 6 | Zelden (1–4%) | In 1 aandoening |
| BRAT1BRCA1 associated ATM activator 1 | Zelden (1–4%) | In 1 aandoening |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Zelden (1–4%) | In 1 aandoening |
| FDX2ferredoxin 2 | Zelden (1–4%) | In 1 aandoening |
| GRK1G protein-coupled receptor kinase 1 | Zelden (1–4%) | In 1 aandoening |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Zelden (1–4%) | In 1 aandoening |
| ABCA1ATP binding cassette subfamily A member 1 | Niet vastgelegd | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Niet vastgelegd | In 1 aandoening |
| ARXaristaless related homeobox | Niet vastgelegd | In 1 aandoening |
| CA2carbonic anhydrase 2 | Niet vastgelegd | In 1 aandoening |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Niet vastgelegd | In 1 aandoening |
| CKAP2Lcytoskeleton associated protein 2L | Niet vastgelegd | In 1 aandoening |
| CNTNAP1contactin associated protein 1 | Niet vastgelegd | In 1 aandoening |
| COL17A1collagen type XVII alpha 1 chain | Niet vastgelegd | In 1 aandoening |
| COQ7coenzyme Q7, hydroxylase | Niet vastgelegd | In 1 aandoening |
| CRYAAcrystallin alpha A | Niet vastgelegd | In 1 aandoening |
| CRYGCcrystallin gamma C | Niet vastgelegd | In 1 aandoening |
| DTNBP1dystrobrevin binding protein 1 | Niet vastgelegd | In 1 aandoening |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| ELOVL4ELOVL fatty acid elongase 4 | Niet vastgelegd | In 1 aandoening |
| FHfumarate hydratase | Niet vastgelegd | In 1 aandoening |
| GDF3growth differentiation factor 3 | Niet vastgelegd | In 1 aandoening |
| GDF6growth differentiation factor 6 | Niet vastgelegd | In 1 aandoening |
| GPR179G protein-coupled receptor 179 | Niet vastgelegd | In 1 aandoening |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Niet vastgelegd | In 1 aandoening |
| HPS3HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 | Niet vastgelegd | In 1 aandoening |
| ISCA2iron-sulfur cluster assembly 2 | Niet vastgelegd | In 1 aandoening |
| LRPAP1LDL receptor related protein associated protein 1 | Niet vastgelegd | In 1 aandoening |
| MBD5methyl-CpG binding domain protein 5 | Niet vastgelegd | In 1 aandoening |
| MC1Rmelanocortin 1 receptor | Niet vastgelegd | In 1 aandoening |
| MCOLN1mucolipin TRP cation channel 1 | Niet vastgelegd | In 1 aandoening |
| MIR184microRNA 184 | Niet vastgelegd | In 1 aandoening |
| OCA2OCA2 melanosomal transmembrane protein | Niet vastgelegd | In 1 aandoening |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Niet vastgelegd | In 1 aandoening |
| OSGEPO-sialoglycoprotein endopeptidase | Niet vastgelegd | In 1 aandoening |
| PHF6PHD finger protein 6 | Niet vastgelegd | In 1 aandoening |
| PHOX2Apaired like homeobox 2A | Niet vastgelegd | In 1 aandoening |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Niet vastgelegd | In 1 aandoening |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Niet vastgelegd | In 1 aandoening |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Niet vastgelegd | In 1 aandoening |
| POLA1DNA polymerase alpha 1, catalytic subunit | Niet vastgelegd | In 1 aandoening |
| POMKprotein O-mannose kinase | Niet vastgelegd | In 1 aandoening |
| PORCNporcupine O-acyltransferase | Niet vastgelegd | In 1 aandoening |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Niet vastgelegd | In 1 aandoening |
| PRDX1peroxiredoxin 1 | Niet vastgelegd | In 1 aandoening |
| PRNPprion protein (Kanno blood group) | Niet vastgelegd | In 1 aandoening |
| RBP4retinol binding protein 4 | Niet vastgelegd | In 1 aandoening |
| SLC45A2solute carrier family 45 member 2 | Niet vastgelegd | In 1 aandoening |
| SYT1synaptotagmin 1 | Niet vastgelegd | In 1 aandoening |
| TACSTD2tumor associated calcium signal transducer 2 | Niet vastgelegd | In 1 aandoening |
| TCF4transcription factor 4 | Niet vastgelegd | In 1 aandoening |
| TDO2tryptophan 2,3-dioxygenase | Niet vastgelegd | In 1 aandoening |
| TMEM126Atransmembrane protein 126A | Niet vastgelegd | In 1 aandoening |
| TP53RKTP53 regulating kinase | Niet vastgelegd | In 1 aandoening |
| TREX1three prime repair exonuclease 1 | Niet vastgelegd | In 1 aandoening |
| TSEN34tRNA splicing endonuclease subunit 34 | Niet vastgelegd | In 1 aandoening |
| TSFMTs translation elongation factor, mitochondrial | Niet vastgelegd | In 1 aandoening |
| TTRtransthyretin | Niet vastgelegd | In 1 aandoening |
| USP45ubiquitin specific peptidase 45 | Niet vastgelegd | In 1 aandoening |
| VPS13Bvacuolar protein sorting 13 homolog B | Niet vastgelegd | In 1 aandoening |
| WDR45BWD repeat domain 45B | Niet vastgelegd | In 1 aandoening |
| ZFYVE26zinc finger FYVE-type containing 26 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
Eén test. Een leven lang antwoorden.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken