Kenmerk
Optic disc pallor
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Samenvatting
- Ook bekend als
- Pale optic disc
- Lichaamssysteem
- Abnormality of the eye
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Optic disc pallor 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 |
|---|---|---|
| ACER3alkaline ceramidase 3 | Altijd | In 1 aandoening |
| ACO2aconitase 2 | Altijd | In 1 aandoening |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altijd | In 1 aandoening |
| ARL13BARF like GTPase 13B | Altijd | In 1 aandoening |
| BBS5Bardet-Biedl syndrome 5 | Altijd | In 1 aandoening |
| BORCS8BLOC-1 related complex subunit 8 | Altijd | In 1 aandoening |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Altijd | In 1 aandoening |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Altijd | In 2 aandoeningen |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Altijd | In 2 aandoeningen |
| DNM1Ldynamin 1L | Altijd | In 2 aandoeningen |
| FDXRferredoxin reductase | Altijd | In 1 aandoening |
| GNAT1G protein subunit alpha transducin 1 | Altijd | In 1 aandoening |
| HARS1histidyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Altijd | In 2 aandoeningen |
| IDH3Gisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma | Altijd | In 1 aandoening |
| IFT172intraflagellar transport 172 | Altijd | In 2 aandoeningen |
| IFT43intraflagellar transport 43 | Altijd | In 2 aandoeningen |
| IMPDH1inosine monophosphate dehydrogenase 1 | Altijd | In 3 aandoeningen |
| ITM2Bintegral membrane protein 2B | Altijd | In 1 aandoening |
| KIF5Akinesin family member 5A | Altijd | In 1 aandoening |
| KLC4kinesin light chain 4 | Altijd | In 1 aandoening |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Altijd | In 1 aandoening |
| MFRPmembrane frizzled-related protein | Altijd | In 1 aandoening |
| MIEF1mitochondrial elongation factor 1 | Altijd | In 1 aandoening |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Altijd | In 1 aandoening |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Altijd | In 2 aandoeningen |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Altijd | In 2 aandoeningen |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Altijd | In 1 aandoening |
| OTX2orthodenticle homeobox 2 | Altijd | In 3 aandoeningen |
| PDE6Aphosphodiesterase 6A | Altijd | In 2 aandoeningen |
| PDXKpyridoxal kinase | Altijd | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altijd | In 1 aandoening |
| PROM1prominin 1 | Altijd | In 3 aandoeningen |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Altijd | In 1 aandoening |
| RIMS2regulating synaptic membrane exocytosis 2 | Altijd | In 1 aandoening |
| RP1RP1 axonemal microtubule associated | Altijd | In 2 aandoeningen |
| RP1L1RP1 like 1 | Altijd | In 2 aandoeningen |
| RTN4IP1reticulon 4 interacting protein 1 | Altijd | In 1 aandoening |
| SCAPERS-phase cyclin A associated protein in the ER | Altijd | In 2 aandoeningen |
| SDHDsuccinate dehydrogenase complex subunit D | Altijd | In 1 aandoening |
Toon nog 231 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| TBC1D32TBC1 domain family member 32 | Altijd | In 1 aandoening |
| TOR1Atorsin family 1 member A | Altijd | In 1 aandoening |
| UBAP1Lubiquitin associated protein 1 like | Altijd | In 2 aandoeningen |
| USP45ubiquitin specific peptidase 45 | Altijd | In 2 aandoeningen |
| VPS41VPS41 subunit of HOPS complex | Altijd | In 1 aandoening |
| ZNF408zinc finger protein 408 | Altijd | In 2 aandoeningen |
| ZNF513zinc finger protein 513 | Altijd | In 2 aandoeningen |
| CLCN7Cl-/H+ antiporter 7 | Heel vaak (80–99%) | In 1 aandoening |
| CRB1crumbs cell polarity complex component 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| ESPNespin | Heel vaak (80–99%) | In 1 aandoening |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Heel vaak (80–99%) | In 1 aandoening |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Heel vaak (80–99%) | In 1 aandoening |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Heel vaak (80–99%) | In 1 aandoening |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Heel vaak (80–99%) | In 2 aandoeningen |
| RAX2retina and anterior neural fold homeobox 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| TMEM126Btransmembrane protein 126B | Heel vaak (80–99%) | In 1 aandoening |
| ABCA4ATP binding cassette subfamily A member 4 | Vaak (30–79%) | In 4 aandoeningen |
| ADAM9ADAM metallopeptidase domain 9 | Vaak (30–79%) | In 1 aandoening |
| AGBL5AGBL carboxypeptidase 5 | Vaak (30–79%) | In 1 aandoening |
| AHI1Abelson helper integration site 1 | Vaak (30–79%) | In 1 aandoening |
| AHRaryl hydrocarbon receptor | Vaak (30–79%) | In 1 aandoening |
| AIPL1AIP like 1 HSP90 co-chaperone | Vaak (30–79%) | In 3 aandoeningen |
| ALMS1ALMS1 centrosome and basal body associated protein | Vaak (30–79%) | In 3 aandoeningen |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Vaak (30–79%) | In 1 aandoening |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Vaak (30–79%) | In 2 aandoeningen |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Vaak (30–79%) | In 1 aandoening |
| ARL2BPARF like GTPase 2 binding protein | Vaak (30–79%) | In 2 aandoeningen |
| ARL3ARF like GTPase 3 | Vaak (30–79%) | In 1 aandoening |
| ARL6ARF like GTPase 6 | Vaak (30–79%) | In 1 aandoening |
| ATF6activating transcription factor 6 | Vaak (30–79%) | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Vaak (30–79%) | In 1 aandoening |
| BBS2Bardet-Biedl syndrome 2 | Vaak (30–79%) | In 2 aandoeningen |
| BEST1bestrophin 1 | Vaak (30–79%) | In 2 aandoeningen |
| CA4carbonic anhydrase 4 | Vaak (30–79%) | In 1 aandoening |
| CABP4calcium binding protein 4 | Vaak (30–79%) | In 2 aandoeningen |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Vaak (30–79%) | In 2 aandoeningen |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Vaak (30–79%) | In 1 aandoening |
| CASKcalcium/calmodulin dependent serine protein kinase | Vaak (30–79%) | In 2 aandoeningen |
| CC2D2Acoiled-coil and C2 domain containing 2A | Vaak (30–79%) | In 1 aandoening |
| CDHR1cadherin related family member 1 | Vaak (30–79%) | In 2 aandoeningen |
| CERKLCERK like autophagy regulator | Vaak (30–79%) | In 2 aandoeningen |
| CFAP20cilia and flagella associated protein 20 | Vaak (30–79%) | In 1 aandoening |
| CFAP410cilia and flagella associated protein 410 | Vaak (30–79%) | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Vaak (30–79%) | In 3 aandoeningen |
| CLDN11claudin 11 | Vaak (30–79%) | In 1 aandoening |
| CLN8CLN8 transmembrane ER and ERGIC protein | Vaak (30–79%) | In 1 aandoening |
| CLRN1clarin 1 | Vaak (30–79%) | In 1 aandoening |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Vaak (30–79%) | In 1 aandoening |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Vaak (30–79%) | In 1 aandoening |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Vaak (30–79%) | In 1 aandoening |
| COL18A1collagen type XVIII alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COQ8Bcoenzyme Q8B | Vaak (30–79%) | In 1 aandoening |
| CRXcone-rod homeobox | Vaak (30–79%) | In 3 aandoeningen |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Vaak (30–79%) | In 2 aandoeningen |
| DARS1aspartyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| DHX38DEAH-box helicase 38 | Vaak (30–79%) | In 1 aandoening |
| DRAM2DNA damage regulated autophagy modulator 2 | Vaak (30–79%) | In 1 aandoening |
| ELOVL1ELOVL fatty acid elongase 1 | Vaak (30–79%) | In 1 aandoening |
| EXOC8exocyst complex component 8 | Vaak (30–79%) | In 1 aandoening |
| EYSEGF-like photoreceptor maintenance factor | Vaak (30–79%) | In 2 aandoeningen |
| FAM161AFAM161 centrosomal protein A | Vaak (30–79%) | In 2 aandoeningen |
| FANCIFA complementation group I | Vaak (30–79%) | In 1 aandoening |
| FGF12fibroblast growth factor 12 | Vaak (30–79%) | In 1 aandoening |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Vaak (30–79%) | In 1 aandoening |
| FSCN2fascin actin-bundling protein 2, retinal | Vaak (30–79%) | In 1 aandoening |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Vaak (30–79%) | In 3 aandoeningen |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Vaak (30–79%) | In 1 aandoening |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Vaak (30–79%) | In 1 aandoening |
| GUCA1Aguanylate cyclase activator 1A | Vaak (30–79%) | In 1 aandoening |
| GUCA1Bguanylate cyclase activator 1B | Vaak (30–79%) | In 1 aandoening |
| GUCY2Dguanylate cyclase 2D, retinal | Vaak (30–79%) | In 2 aandoeningen |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| HKDC1hexokinase domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| HLA-Amajor histocompatibility complex, class I, A | Vaak (30–79%) | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Vaak (30–79%) | In 1 aandoening |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Vaak (30–79%) | In 1 aandoening |
| IFT140intraflagellar transport 140 | Vaak (30–79%) | In 2 aandoeningen |
| IFT88intraflagellar transport 88 | Vaak (30–79%) | In 1 aandoening |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Vaak (30–79%) | In 1 aandoening |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Vaak (30–79%) | In 3 aandoeningen |
| KIAA1549KIAA1549 | Vaak (30–79%) | In 2 aandoeningen |
| KIZkizuna centrosomal protein | Vaak (30–79%) | In 1 aandoening |
| KLC2kinesin light chain 2 | Vaak (30–79%) | In 2 aandoeningen |
| KLHL7kelch like family member 7 | Vaak (30–79%) | In 1 aandoening |
| LCA5lebercilin LCA5 | Vaak (30–79%) | In 2 aandoeningen |
| LRATlecithin retinol acyltransferase | Vaak (30–79%) | In 4 aandoeningen |
| LYRM7LYR motif containing 7 | Vaak (30–79%) | In 1 aandoening |
| MAKmale germ cell associated kinase | Vaak (30–79%) | In 2 aandoeningen |
| MAPKAPK5MAPK activated protein kinase 5 | Vaak (30–79%) | In 1 aandoening |
| MERTKMER proto-oncogene, tyrosine kinase | Vaak (30–79%) | In 2 aandoeningen |
| MFFmitochondrial fission factor | Vaak (30–79%) | In 2 aandoeningen |
| MFSD8major facilitator superfamily domain containing 8 | Vaak (30–79%) | In 2 aandoeningen |
| MKS1MKS transition zone complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 1 aandoening |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Vaak (30–79%) | In 1 aandoening |
| MVKmevalonate kinase | Vaak (30–79%) | In 2 aandoeningen |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Vaak (30–79%) | In 1 aandoening |
| NEK2NIMA related kinase 2 | Vaak (30–79%) | In 1 aandoening |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Vaak (30–79%) | In 4 aandoeningen |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Vaak (30–79%) | In 1 aandoening |
| NRLneural retina leucine zipper | Vaak (30–79%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Vaak (30–79%) | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Vaak (30–79%) | In 1 aandoening |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Vaak (30–79%) | In 1 aandoening |
| OPN1LWopsin 1, long wave sensitive | Vaak (30–79%) | In 1 aandoening |
| OPN1MWopsin 1, medium wave sensitive | Vaak (30–79%) | In 1 aandoening |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Vaak (30–79%) | In 1 aandoening |
| PANK2pantothenate kinase 2 | Vaak (30–79%) | In 1 aandoening |
| PCAREphotoreceptor cilium actin regulator | Vaak (30–79%) | In 1 aandoening |
| PDE6Bphosphodiesterase 6B | Vaak (30–79%) | In 1 aandoening |
| PDE6Gphosphodiesterase 6G | Vaak (30–79%) | In 2 aandoeningen |
| PITPNM3PITPNM family member 3 | Vaak (30–79%) | In 1 aandoening |
| POC1BPOC1 centriolar protein B | Vaak (30–79%) | In 2 aandoeningen |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Vaak (30–79%) | In 1 aandoening |
| PRCDphotoreceptor disc component | Vaak (30–79%) | In 2 aandoeningen |
| PRPF3pre-mRNA processing factor 3 | Vaak (30–79%) | In 1 aandoening |
| PRPF31pre-mRNA processing factor 31 | Vaak (30–79%) | In 2 aandoeningen |
| PRPF6pre-mRNA processing factor 6 | Vaak (30–79%) | In 2 aandoeningen |
| PRPF8pre-mRNA processing factor 8 | Vaak (30–79%) | In 1 aandoening |
| PRPH2peripherin 2 | Vaak (30–79%) | In 4 aandoeningen |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| RAB28RAB28, member RAS oncogene family | Vaak (30–79%) | In 1 aandoening |
| RBP3retinol binding protein 3 | Vaak (30–79%) | In 2 aandoeningen |
| RDH12retinol dehydrogenase 12 | Vaak (30–79%) | In 3 aandoeningen |
| REEP6receptor accessory protein 6 | Vaak (30–79%) | In 1 aandoening |
| RGRretinal G protein coupled receptor | Vaak (30–79%) | In 1 aandoening |
| RHOrhodopsin | Vaak (30–79%) | In 1 aandoening |
| RIMS1regulating synaptic membrane exocytosis 1 | Vaak (30–79%) | In 1 aandoening |
| RLBP1retinaldehyde binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Vaak (30–79%) | In 1 aandoening |
| RNU6-1RNA, U6 small nuclear 1 | Vaak (30–79%) | In 1 aandoening |
| RNU6-2RNA, U6 small nuclear 2 | Vaak (30–79%) | In 1 aandoening |
| RNU6-8RNA, U6 small nuclear 8 | Vaak (30–79%) | In 1 aandoening |
| RNU6-9RNA, U6 small nuclear 9 | Vaak (30–79%) | In 1 aandoening |
| ROM1retinal outer segment membrane protein 1 | Vaak (30–79%) | In 1 aandoening |
| RP2RP2 activator of ARL3 GTPase | Vaak (30–79%) | In 1 aandoening |
| RP9RP9 pre-mRNA splicing factor | Vaak (30–79%) | In 1 aandoening |
| RPE65retinoid isomerohydrolase RPE65 | Vaak (30–79%) | In 4 aandoeningen |
| RPGRretinitis pigmentosa GTPase regulator | Vaak (30–79%) | In 2 aandoeningen |
| RPGRIP1RPGR interacting protein 1 | Vaak (30–79%) | In 4 aandoeningen |
| SAGS-antigen visual arrestin | Vaak (30–79%) | In 1 aandoening |
| SAXO6stabilizer of axonemal microtubules 6 | Vaak (30–79%) | In 1 aandoening |
| SEMA4Asemaphorin 4A | Vaak (30–79%) | In 2 aandoeningen |
| SLC7A14solute carrier family 7 member 14 | Vaak (30–79%) | In 1 aandoening |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Vaak (30–79%) | In 2 aandoeningen |
| SPATA7spermatogenesis associated 7 | Vaak (30–79%) | In 3 aandoeningen |
| STX3syntaxin 3 | Vaak (30–79%) | In 1 aandoening |
| TLCD3BTLC domain containing 3B | Vaak (30–79%) | In 1 aandoening |
| TMEM216transmembrane protein 216 | Vaak (30–79%) | In 1 aandoening |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Vaak (30–79%) | In 1 aandoening |
| TRNT1tRNA nucleotidyl transferase 1 | Vaak (30–79%) | In 1 aandoening |
| TTC8tetratricopeptide repeat domain 8 | Vaak (30–79%) | In 1 aandoening |
| TTLL5tubulin tyrosine ligase like 5 | Vaak (30–79%) | In 1 aandoening |
| TUBTUB bipartite transcription factor | Vaak (30–79%) | In 1 aandoening |
| TULP1TUB like protein 1 | Vaak (30–79%) | In 4 aandoeningen |
| UNC119unc-119 lipid binding chaperone | Vaak (30–79%) | In 1 aandoening |
| USH2Ausherin | Vaak (30–79%) | In 1 aandoening |
| VSX1visual system homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| WFS1wolframin ER transmembrane glycoprotein | Vaak (30–79%) | In 1 aandoening |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Soms (5–29%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Soms (5–29%) | In 1 aandoening |
| COX7Bcytochrome c oxidase subunit 7B | Soms (5–29%) | In 1 aandoening |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Soms (5–29%) | In 1 aandoening |
| GDF6growth differentiation factor 6 | Soms (5–29%) | In 1 aandoening |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Soms (5–29%) | In 1 aandoening |
| INPP5Einositol polyphosphate-5-phosphatase E | Soms (5–29%) | In 1 aandoening |
| IQCB1IQ motif containing B1 | Soms (5–29%) | In 1 aandoening |
| JAM3junctional adhesion molecule 3 | Soms (5–29%) | In 1 aandoening |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Soms (5–29%) | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Soms (5–29%) | In 2 aandoeningen |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Soms (5–29%) | In 1 aandoening |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Soms (5–29%) | In 1 aandoening |
| NFIXnuclear factor I X | Soms (5–29%) | In 1 aandoening |
| PCLOpiccolo presynaptic cytomatrix protein | Soms (5–29%) | In 1 aandoening |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Soms (5–29%) | In 1 aandoening |
| PLK4polo like kinase 4 | Soms (5–29%) | In 1 aandoening |
| PRORPprotein only RNase P catalytic subunit | Soms (5–29%) | In 1 aandoening |
| RD3RD3 regulator of GUCY2D | Soms (5–29%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Soms (5–29%) | In 1 aandoening |
| RTTNrotatin | Soms (5–29%) | In 1 aandoening |
| SMG8SMG8 nonsense mediated mRNA decay factor | Soms (5–29%) | In 1 aandoening |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Soms (5–29%) | In 1 aandoening |
| SPOUT1SPOUT domain containing methyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| TASP1taspase 1 | Soms (5–29%) | In 1 aandoening |
| TMEM106Btransmembrane protein 106B | Soms (5–29%) | In 1 aandoening |
| TMEM67transmembrane protein 67 | Soms (5–29%) | In 1 aandoening |
| TPI1triosephosphate isomerase 1 | Soms (5–29%) | In 1 aandoening |
| TUBB4Btubulin beta 4B class IVb | Soms (5–29%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Zelden (1–4%) | In 1 aandoening |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Zelden (1–4%) | In 1 aandoening |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Zelden (1–4%) | In 1 aandoening |
| NGLY1N-glycanase 1 | Zelden (1–4%) | In 1 aandoening |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Niet vastgelegd | In 1 aandoening |
| ATXN1ataxin 1 | Niet vastgelegd | In 1 aandoening |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Niet vastgelegd | In 1 aandoening |
| CLCC1chloride channel CLIC like 1 | Niet vastgelegd | In 1 aandoening |
| HK1hexokinase 1 | Niet vastgelegd | In 1 aandoening |
| MFN2mitofusin 2 | Niet vastgelegd | In 2 aandoeningen |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| PEX1peroxisomal biogenesis factor 1 | Niet vastgelegd | In 1 aandoening |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Niet vastgelegd | In 1 aandoening |
| PISDphosphatidylserine decarboxylase | Niet vastgelegd | In 1 aandoening |
| TMEM126Atransmembrane protein 126A | Niet vastgelegd | In 1 aandoening |
| TUBGCP6tubulin gamma complex component 6 | Niet vastgelegd | In 1 aandoening |
| UBE3Bubiquitin protein ligase E3B | 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.
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