Kenmerk
Blindness
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.
Samenvatting
- Ook bekend als
- Legal blindness, Total vision loss
- Lichaamssysteem
- Abnormality of the eye
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Blindness 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 |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altijd | In 1 aandoening |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Altijd | In 1 aandoening |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Altijd | In 1 aandoening |
| CAPN5calpain 5 | Altijd | In 1 aandoening |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altijd | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Altijd | In 1 aandoening |
| FDXRferredoxin reductase | Altijd | In 2 aandoeningen |
| GTPBP2GTP binding protein 2 | Altijd | In 1 aandoening |
| IFT140intraflagellar transport 140 | Altijd | In 3 aandoeningen |
| KLC4kinesin light chain 4 | Altijd | In 1 aandoening |
| LRP5LDL receptor related protein 5 | Altijd | In 5 aandoeningen |
| MED16mediator complex subunit 16 | Altijd | In 1 aandoening |
| NDC1NDC1 transmembrane nucleoporin | Altijd | In 1 aandoening |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Altijd | In 2 aandoeningen |
| NHEJ1non-homologous end joining factor 1 | Altijd | In 1 aandoening |
| ABCA4ATP binding cassette subfamily A member 4 | Heel vaak (80–99%) | In 1 aandoening |
| AGBL5AGBL carboxypeptidase 5 | Heel vaak (80–99%) | In 1 aandoening |
| AHI1Abelson helper integration site 1 | Heel vaak (80–99%) | In 1 aandoening |
| AHRaryl hydrocarbon receptor | Heel vaak (80–99%) | In 1 aandoening |
| ALMS1ALMS1 centrosome and basal body associated protein | 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 |
| ARL6ARF like GTPase 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| BBS1Bardet-Biedl syndrome 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| BBS2Bardet-Biedl syndrome 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| BEST1bestrophin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CA4carbonic anhydrase 4 | Heel vaak (80–99%) | In 1 aandoening |
| CC2D2Acoiled-coil and C2 domain containing 2A | Heel vaak (80–99%) | In 2 aandoeningen |
| CDH3cadherin 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| CDHR1cadherin related family member 1 | Heel vaak (80–99%) | In 1 aandoening |
| CERKLCERK like autophagy regulator | Heel vaak (80–99%) | In 1 aandoening |
| CFAP20cilia and flagella associated protein 20 | Heel vaak (80–99%) | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Heel vaak (80–99%) | In 3 aandoeningen |
| CLRN1clarin 1 | Heel vaak (80–99%) | In 1 aandoening |
| 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 |
| COQ8Bcoenzyme Q8B | Heel vaak (80–99%) | In 1 aandoening |
| CRB1crumbs cell polarity complex component 1 | Heel vaak (80–99%) | In 1 aandoening |
| CRXcone-rod homeobox | Heel vaak (80–99%) | In 2 aandoeningen |
Toon nog 271 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| DHDDSdehydrodolichyl diphosphate synthase subunit | Heel vaak (80–99%) | In 1 aandoening |
| DHX38DEAH-box helicase 38 | 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 |
| FRAS1Fraser extracellular matrix complex subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| FREM2FRAS1 related extracellular matrix 2 | Heel vaak (80–99%) | In 1 aandoening |
| FSCN2fascin actin-bundling protein 2, retinal | Heel vaak (80–99%) | In 1 aandoening |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Heel vaak (80–99%) | In 1 aandoening |
| GLB1galactosidase beta 1 | Heel vaak (80–99%) | In 1 aandoening |
| GRIP1glutamate receptor interacting protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| GUCA1Bguanylate cyclase activator 1B | Heel vaak (80–99%) | In 1 aandoening |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| HKDC1hexokinase domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Heel vaak (80–99%) | In 1 aandoening |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Heel vaak (80–99%) | In 1 aandoening |
| IFT172intraflagellar transport 172 | Heel vaak (80–99%) | In 2 aandoeningen |
| IFT43intraflagellar transport 43 | 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 1 aandoening |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Heel vaak (80–99%) | In 1 aandoening |
| IMPG2interphotoreceptor matrix proteoglycan 2 | 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 |
| LRATlecithin retinol acyltransferase | 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 |
| NDE1nudE neurodevelopment protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| NDPnorrin cystine knot growth factor NDP | Heel vaak (80–99%) | In 5 aandoeningen |
| NEK2NIMA related kinase 2 | 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 1 aandoening |
| PCAREphotoreceptor cilium actin regulator | Heel vaak (80–99%) | In 1 aandoening |
| PDE6Aphosphodiesterase 6A | Heel vaak (80–99%) | In 1 aandoening |
| PDE6Bphosphodiesterase 6B | Heel vaak (80–99%) | In 1 aandoening |
| PDE6Gphosphodiesterase 6G | Heel vaak (80–99%) | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Heel vaak (80–99%) | In 2 aandoeningen |
| PRCDphotoreceptor disc component | Heel vaak (80–99%) | In 1 aandoening |
| PROM1prominin 1 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF3pre-mRNA processing factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF31pre-mRNA processing factor 31 | Heel vaak (80–99%) | In 2 aandoeningen |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF6pre-mRNA processing factor 6 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF8pre-mRNA processing factor 8 | Heel vaak (80–99%) | In 1 aandoening |
| PRPH2peripherin 2 | Heel vaak (80–99%) | In 1 aandoening |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Heel vaak (80–99%) | In 1 aandoening |
| RBP3retinol binding protein 3 | 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 1 aandoening |
| RHOrhodopsin | Heel vaak (80–99%) | In 2 aandoeningen |
| RLBP1retinaldehyde binding protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| 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 2 aandoeningen |
| RPGRretinitis pigmentosa GTPase regulator | Heel vaak (80–99%) | In 1 aandoening |
| SAGS-antigen visual arrestin | Heel vaak (80–99%) | In 1 aandoening |
| 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 2 aandoeningen |
| SEMA4Asemaphorin 4A | 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 1 aandoening |
| SPATA7spermatogenesis associated 7 | Heel vaak (80–99%) | In 1 aandoening |
| TMEM216transmembrane protein 216 | Heel vaak (80–99%) | In 2 aandoeningen |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Heel vaak (80–99%) | In 1 aandoening |
| TTC8tetratricopeptide repeat domain 8 | Heel vaak (80–99%) | In 2 aandoeningen |
| TUBTUB bipartite transcription factor | Heel vaak (80–99%) | In 1 aandoening |
| TULP1TUB like protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| USH2Ausherin | Heel vaak (80–99%) | In 1 aandoening |
| ZNF408zinc finger protein 408 | Heel vaak (80–99%) | In 2 aandoeningen |
| ZNF513zinc finger protein 513 | Heel vaak (80–99%) | In 1 aandoening |
| ACTBactin beta | Vaak (30–79%) | In 1 aandoening |
| BBIP1BBSome interacting protein 1 | Vaak (30–79%) | In 1 aandoening |
| BBS10Bardet-Biedl syndrome 10 | Vaak (30–79%) | In 1 aandoening |
| BBS12Bardet-Biedl syndrome 12 | Vaak (30–79%) | In 1 aandoening |
| BBS4Bardet-Biedl syndrome 4 | Vaak (30–79%) | In 1 aandoening |
| BBS5Bardet-Biedl syndrome 5 | Vaak (30–79%) | In 1 aandoening |
| BBS7Bardet-Biedl syndrome 7 | Vaak (30–79%) | In 1 aandoening |
| BBS9Bardet-Biedl syndrome 9 | Vaak (30–79%) | In 1 aandoening |
| CEP19centrosomal protein 19 | Vaak (30–79%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Vaak (30–79%) | In 2 aandoeningen |
| DHX37DEAH-box helicase 37 | Vaak (30–79%) | In 1 aandoening |
| GUCY2Dguanylate cyclase 2D, retinal | Vaak (30–79%) | In 1 aandoening |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Vaak (30–79%) | In 1 aandoening |
| IFT27intraflagellar transport 27 | Vaak (30–79%) | In 1 aandoening |
| IFT74intraflagellar transport 74 | Vaak (30–79%) | In 1 aandoening |
| LZTFL1leucine zipper transcription factor like 1 | Vaak (30–79%) | In 1 aandoening |
| MKKSMKKS centrosomal shuttling protein | Vaak (30–79%) | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 3 aandoeningen |
| NPHP1nephrocystin 1 | Vaak (30–79%) | In 1 aandoening |
| OATornithine aminotransferase | Vaak (30–79%) | In 2 aandoeningen |
| PEX6peroxisomal biogenesis factor 6 | Vaak (30–79%) | In 1 aandoening |
| RBMXRNA binding motif protein X-linked | Vaak (30–79%) | In 2 aandoeningen |
| SCLT1sodium channel and clathrin linker 1 | Vaak (30–79%) | In 1 aandoening |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Vaak (30–79%) | In 1 aandoening |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| 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 |
| TRIM32tripartite motif containing 32 | Vaak (30–79%) | In 1 aandoening |
| WDPCPWD repeat containing planar cell polarity effector | Vaak (30–79%) | In 1 aandoening |
| ZNF423zinc finger protein 423 | Vaak (30–79%) | In 1 aandoening |
| AIPAHR interacting HSP90 co-chaperone | Soms (5–29%) | In 1 aandoening |
| ASPAaspartoacylase | Soms (5–29%) | In 2 aandoeningen |
| ATOH7atonal bHLH transcription factor 7 | Soms (5–29%) | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Soms (5–29%) | In 1 aandoening |
| ATP5F1AATP synthase F1 subunit alpha | Soms (5–29%) | In 1 aandoening |
| ATP5F1DATP synthase F1 subunit delta | Soms (5–29%) | In 1 aandoening |
| ATP5F1EATP synthase F1 subunit epsilon | Soms (5–29%) | In 1 aandoening |
| ATP5MKATP synthase membrane subunit k | Soms (5–29%) | In 1 aandoening |
| ATP5POATP synthase peripheral stalk subunit OSCP | Soms (5–29%) | In 1 aandoening |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Soms (5–29%) | In 1 aandoening |
| ATRXATRX chromatin remodeler | Soms (5–29%) | In 1 aandoening |
| ATXN7ataxin 7 | Soms (5–29%) | In 1 aandoening |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| BTNL2butyrophilin like 2 | Soms (5–29%) | In 1 aandoening |
| C4Acomplement C4A (Chido/Rodgers blood group) | Soms (5–29%) | In 1 aandoening |
| CCR1C-C motif chemokine receptor 1 | Soms (5–29%) | In 1 aandoening |
| CDH23cadherin related 23 | Soms (5–29%) | In 2 aandoeningen |
| CEP164centrosomal protein 164 | Soms (5–29%) | In 1 aandoening |
| CLCN7Cl-/H+ antiporter 7 | Soms (5–29%) | In 1 aandoening |
| COX7Bcytochrome c oxidase subunit 7B | Soms (5–29%) | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Soms (5–29%) | In 1 aandoening |
| CTNNB1catenin beta 1 | Soms (5–29%) | In 1 aandoening |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Soms (5–29%) | In 1 aandoening |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Soms (5–29%) | In 1 aandoening |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Soms (5–29%) | In 1 aandoening |
| FASFas cell surface death receptor | Soms (5–29%) | In 1 aandoening |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Soms (5–29%) | In 1 aandoening |
| FZD4frizzled class receptor 4 | Soms (5–29%) | In 4 aandoeningen |
| GALCgalactosylceramidase | Soms (5–29%) | In 3 aandoeningen |
| GNAQG protein subunit alpha q | Soms (5–29%) | In 1 aandoening |
| HCCSholocytochrome c synthase | Soms (5–29%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Soms (5–29%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Soms (5–29%) | In 1 aandoening |
| IFNGR1interferon gamma receptor 1 | Soms (5–29%) | In 1 aandoening |
| IL10interleukin 10 | Soms (5–29%) | In 1 aandoening |
| IL12Ainterleukin 12A | Soms (5–29%) | In 1 aandoening |
| IL12A-AS1IL12A antisense RNA 1 | Soms (5–29%) | In 1 aandoening |
| IL23Rinterleukin 23 receptor | Soms (5–29%) | In 1 aandoening |
| KIF11kinesin family member 11 | Soms (5–29%) | In 1 aandoening |
| KLRC4killer cell lectin like receptor C4 | Soms (5–29%) | In 1 aandoening |
| LAMB2laminin subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| LONP1lon peptidase 1, mitochondrial | Soms (5–29%) | In 1 aandoening |
| MEFVMEFV innate immunity regulator, pyrin | Soms (5–29%) | In 1 aandoening |
| MEN1menin 1 | Soms (5–29%) | In 1 aandoening |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Soms (5–29%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Soms (5–29%) | In 1 aandoening |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Soms (5–29%) | In 1 aandoening |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Soms (5–29%) | In 1 aandoening |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Soms (5–29%) | In 1 aandoening |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Soms (5–29%) | In 1 aandoening |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Soms (5–29%) | In 1 aandoening |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Soms (5–29%) | In 1 aandoening |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Soms (5–29%) | In 1 aandoening |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Soms (5–29%) | In 1 aandoening |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Soms (5–29%) | In 1 aandoening |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Soms (5–29%) | In 1 aandoening |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Soms (5–29%) | In 1 aandoening |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Soms (5–29%) | In 1 aandoening |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Soms (5–29%) | In 1 aandoening |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Soms (5–29%) | In 1 aandoening |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Soms (5–29%) | In 1 aandoening |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Soms (5–29%) | In 2 aandoeningen |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Soms (5–29%) | In 1 aandoening |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Soms (5–29%) | In 1 aandoening |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Soms (5–29%) | In 1 aandoening |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Soms (5–29%) | In 1 aandoening |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Soms (5–29%) | In 1 aandoening |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Soms (5–29%) | In 2 aandoeningen |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Soms (5–29%) | In 1 aandoening |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Soms (5–29%) | In 1 aandoening |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Soms (5–29%) | In 1 aandoening |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Soms (5–29%) | In 1 aandoening |
| NF1neurofibromin 1 | Soms (5–29%) | In 1 aandoening |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Soms (5–29%) | In 2 aandoeningen |
| NLRP3NLR family pyrin domain containing 3 | Soms (5–29%) | In 1 aandoening |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Soms (5–29%) | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Soms (5–29%) | In 1 aandoening |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Soms (5–29%) | In 1 aandoening |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Soms (5–29%) | In 1 aandoening |
| PLA2G6phospholipase A2 group VI | Soms (5–29%) | In 1 aandoening |
| POLGDNA polymerase gamma, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| PSAPprosaposin | Soms (5–29%) | In 1 aandoening |
| STAT4signal transducer and activator of transcription 4 | Soms (5–29%) | In 1 aandoening |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Soms (5–29%) | In 1 aandoening |
| TIMP3TIMP metallopeptidase inhibitor 3 | Soms (5–29%) | In 2 aandoeningen |
| TLR4toll like receptor 4 | Soms (5–29%) | In 1 aandoening |
| TM2D3TM2 domain containing 3 | Soms (5–29%) | In 1 aandoening |
| TMEM126Btransmembrane protein 126B | Soms (5–29%) | In 1 aandoening |
| TNFSF11TNF superfamily member 11 | Soms (5–29%) | In 1 aandoening |
| TSPAN12tetraspanin 12 | Soms (5–29%) | In 1 aandoening |
| UBAC2UBA domain containing 2 | Soms (5–29%) | In 1 aandoening |
| ABCD1ATP binding cassette subfamily D member 1 | Zelden (1–4%) | In 2 aandoeningen |
| AKT1AKT serine/threonine kinase 1 | Zelden (1–4%) | In 1 aandoening |
| BAP1BRCA1 associated deubiquitinase 1 | Zelden (1–4%) | In 1 aandoening |
| CD109CD109 molecule | Zelden (1–4%) | In 1 aandoening |
| FKRPfukutin related protein | Zelden (1–4%) | In 2 aandoeningen |
| GATA1GATA binding protein 1 | Zelden (1–4%) | In 1 aandoening |
| GMPPBGDP-mannose pyrophosphorylase B | Zelden (1–4%) | In 1 aandoening |
| GP1BAglycoprotein Ib platelet subunit alpha | Zelden (1–4%) | In 1 aandoening |
| GP1BBglycoprotein Ib platelet subunit beta | Zelden (1–4%) | In 1 aandoening |
| ITGA2integrin subunit alpha 2 | Zelden (1–4%) | In 1 aandoening |
| ITGA2Bintegrin subunit alpha 2b | Zelden (1–4%) | In 1 aandoening |
| ITGB3integrin subunit beta 3 | Zelden (1–4%) | In 1 aandoening |
| MTTPmicrosomal triglyceride transfer protein | Zelden (1–4%) | In 1 aandoening |
| PANK2pantothenate kinase 2 | Zelden (1–4%) | In 2 aandoeningen |
| PDGFBplatelet derived growth factor subunit B | Zelden (1–4%) | In 1 aandoening |
| PGK1phosphoglycerate kinase 1 | Zelden (1–4%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Zelden (1–4%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Zelden (1–4%) | In 1 aandoening |
| POMKprotein O-mannose kinase | Zelden (1–4%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Zelden (1–4%) | In 2 aandoeningen |
| POMT2protein O-mannosyltransferase 2 | Zelden (1–4%) | In 2 aandoeningen |
| PQBP1polyglutamine binding protein 1 | Zelden (1–4%) | In 1 aandoening |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Zelden (1–4%) | In 1 aandoening |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Zelden (1–4%) | In 1 aandoening |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Zelden (1–4%) | In 1 aandoening |
| SDHDsuccinate dehydrogenase complex subunit D | Zelden (1–4%) | In 1 aandoening |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Zelden (1–4%) | In 1 aandoening |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Zelden (1–4%) | In 1 aandoening |
| SMOsmoothened, frizzled class receptor | Zelden (1–4%) | In 1 aandoening |
| SUFUSUFU negative regulator of hedgehog signaling | Zelden (1–4%) | In 1 aandoening |
| TERTtelomerase reverse transcriptase | Zelden (1–4%) | In 1 aandoening |
| TRAF7TNF receptor associated factor 7 | Zelden (1–4%) | In 1 aandoening |
| UFM1ubiquitin fold modifier 1 | Zelden (1–4%) | In 1 aandoening |
| URODuroporphyrinogen decarboxylase | Zelden (1–4%) | In 1 aandoening |
| UROSuroporphyrinogen III synthase | Zelden (1–4%) | In 1 aandoening |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Niet vastgelegd | In 1 aandoening |
| AIPL1AIP like 1 HSP90 co-chaperone | Niet vastgelegd | In 1 aandoening |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Niet vastgelegd | In 1 aandoening |
| BCORBCL6 corepressor | Niet vastgelegd | In 1 aandoening |
| BMP4bone morphogenetic protein 4 | Niet vastgelegd | In 1 aandoening |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Niet vastgelegd | In 1 aandoening |
| COL2A1collagen type II alpha 1 chain | Niet vastgelegd | In 1 aandoening |
| CTC1CST telomere replication complex component 1 | Niet vastgelegd | In 1 aandoening |
| FBN1fibrillin 1 | Niet vastgelegd | In 1 aandoening |
| FKTNfukutin | Niet vastgelegd | In 1 aandoening |
| FLVCR1FLVCR choline and heme transporter 1 | Niet vastgelegd | In 1 aandoening |
| GJB2gap junction protein beta 2 | Niet vastgelegd | In 1 aandoening |
| GM2Aganglioside GM2 activator | Niet vastgelegd | In 1 aandoening |
| GNASGNAS complex locus | Niet vastgelegd | In 1 aandoening |
| HEXAhexosaminidase subunit alpha | Niet vastgelegd | In 1 aandoening |
| HEXBhexosaminidase subunit beta | Niet vastgelegd | In 1 aandoening |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Niet vastgelegd | In 1 aandoening |
| KIF14kinesin family member 14 | Niet vastgelegd | In 1 aandoening |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Niet vastgelegd | In 1 aandoening |
| MFSD8major facilitator superfamily domain containing 8 | Niet vastgelegd | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Niet vastgelegd | In 1 aandoening |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Niet vastgelegd | In 1 aandoening |
| PITX3paired like homeodomain 3 | Niet vastgelegd | In 1 aandoening |
| PLGplasminogen | Niet vastgelegd | In 1 aandoening |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Niet vastgelegd | In 1 aandoening |
| PPT1palmitoyl-protein thioesterase 1 | Niet vastgelegd | In 1 aandoening |
| PROS1protein S | Niet vastgelegd | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Niet vastgelegd | In 1 aandoening |
| SREBF1sterol regulatory element binding transcription factor 1 | Niet vastgelegd | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Niet vastgelegd | In 1 aandoening |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Niet vastgelegd | In 1 aandoening |
| TMEM67transmembrane protein 67 | 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.
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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.
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