Kenmerk
Extreme sensitivity of the eyes to light
Klinische naam: Photophobia
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Samenvatting
- Ook bekend als
- Light hypersensitivity, Photodysphoria
- Lichaamssysteem
- Abnormality of the eyeAbnormality of the nervous system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Extreme sensitivity of the eyes to light 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 |
| AHRaryl hydrocarbon receptor | Altijd | In 2 aandoeningen |
| ALMS1ALMS1 centrosome and basal body associated protein | Altijd | In 4 aandoeningen |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Altijd | In 1 aandoening |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Altijd | In 1 aandoening |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Altijd | In 3 aandoeningen |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Altijd | In 3 aandoeningen |
| CST6cystatin E/M | Altijd | In 1 aandoening |
| CTNScystinosin, lysosomal cystine transporter | Altijd | In 6 aandoeningen |
| GANgigaxonin | Altijd | In 1 aandoening |
| GJB2gap junction protein beta 2 | Altijd | In 2 aandoeningen |
| GPR143G protein-coupled receptor 143 | Altijd | In 2 aandoeningen |
| GTF2H4general transcription factor IIH subunit 4 | Altijd | In 1 aandoening |
| HARS1histidyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Altijd | In 1 aandoening |
| HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | Altijd | In 1 aandoening |
| IKZF2IKAROS family zinc finger 2 | Altijd | In 1 aandoening |
| ITM2Bintegral membrane protein 2B | Altijd | In 1 aandoening |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Altijd | In 1 aandoening |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Altijd | In 1 aandoening |
| PCNAproliferating cell nuclear antigen | Altijd | In 2 aandoeningen |
| PDE6Hphosphodiesterase 6H | Altijd | In 2 aandoeningen |
| POLA1DNA polymerase alpha 1, catalytic subunit | Altijd | In 1 aandoening |
| RGS9regulator of G protein signaling 9 | Altijd | In 2 aandoeningen |
| RGS9BPregulator of G protein signaling 9 binding protein | Altijd | In 2 aandoeningen |
| RIMS2regulating synaptic membrane exocytosis 2 | Altijd | In 1 aandoening |
| RPGRretinitis pigmentosa GTPase regulator | Altijd | In 5 aandoeningen |
| RPGRIP1RPGR interacting protein 1 | Altijd | In 4 aandoeningen |
| SLC24A5solute carrier family 24 member 5 | Altijd | In 2 aandoeningen |
| UBAP1Lubiquitin associated protein 1 like | Altijd | In 2 aandoeningen |
| ABCA4ATP binding cassette subfamily A member 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| ADAM9ADAM metallopeptidase domain 9 | 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 |
| AIPL1AIP like 1 HSP90 co-chaperone | Heel vaak (80–99%) | In 2 aandoeningen |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Heel vaak (80–99%) | In 2 aandoeningen |
| 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 |
Toon nog 272 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ARL6ARF like GTPase 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| ATF6activating transcription factor 6 | Heel vaak (80–99%) | In 3 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 1 aandoening |
| C4Acomplement C4A (Chido/Rodgers blood group) | Heel vaak (80–99%) | In 1 aandoening |
| CA4carbonic anhydrase 4 | Heel vaak (80–99%) | In 1 aandoening |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Heel vaak (80–99%) | In 2 aandoeningen |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| CC2D2Acoiled-coil and C2 domain containing 2A | Heel vaak (80–99%) | In 1 aandoening |
| CCR1C-C motif chemokine receptor 1 | Heel vaak (80–99%) | In 1 aandoening |
| CDHR1cadherin related family member 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| CERKLCERK like autophagy regulator | Heel vaak (80–99%) | In 1 aandoening |
| CFAP20cilia and flagella associated protein 20 | Heel vaak (80–99%) | In 1 aandoening |
| CFAP410cilia and flagella associated protein 410 | Heel vaak (80–99%) | In 2 aandoeningen |
| CFAP418cilia and flagella associated protein 418 | Heel vaak (80–99%) | In 4 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 |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| COQ8Bcoenzyme Q8B | Heel vaak (80–99%) | In 1 aandoening |
| CRB1crumbs cell polarity complex component 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CRXcone-rod homeobox | Heel vaak (80–99%) | In 4 aandoeningen |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Heel vaak (80–99%) | In 1 aandoening |
| DHX38DEAH-box helicase 38 | Heel vaak (80–99%) | In 1 aandoening |
| DRAM2DNA damage regulated autophagy modulator 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Heel vaak (80–99%) | In 1 aandoening |
| EYSEGF-like photoreceptor maintenance factor | Heel vaak (80–99%) | In 2 aandoeningen |
| FAM161AFAM161 centrosomal protein A | Heel vaak (80–99%) | In 1 aandoening |
| FASFas cell surface death receptor | Heel vaak (80–99%) | In 2 aandoeningen |
| FOXC2forkhead box C2 | Heel vaak (80–99%) | In 2 aandoeningen |
| 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 2 aandoeningen |
| GNAT2G protein subunit alpha transducin 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| GUCA1Aguanylate cyclase activator 1A | Heel vaak (80–99%) | In 3 aandoeningen |
| GUCA1Bguanylate cyclase activator 1B | Heel vaak (80–99%) | In 1 aandoening |
| GUCY2Dguanylate cyclase 2D, retinal | Heel vaak (80–99%) | In 4 aandoeningen |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | 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 |
| HLA-Bmajor histocompatibility complex, class I, B | Heel vaak (80–99%) | In 3 aandoeningen |
| 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 |
| IFNGR1interferon gamma receptor 1 | Heel vaak (80–99%) | In 1 aandoening |
| IFT140intraflagellar transport 140 | Heel vaak (80–99%) | In 2 aandoeningen |
| 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 |
| IL10interleukin 10 | Heel vaak (80–99%) | In 1 aandoening |
| IL12Ainterleukin 12A | Heel vaak (80–99%) | In 1 aandoening |
| IL12A-AS1IL12A antisense RNA 1 | Heel vaak (80–99%) | In 1 aandoening |
| IL23Rinterleukin 23 receptor | 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 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 |
| KLRC4killer cell lectin like receptor C4 | Heel vaak (80–99%) | In 1 aandoening |
| LRATlecithin retinol acyltransferase | Heel vaak (80–99%) | In 4 aandoeningen |
| MAKmale germ cell associated kinase | Heel vaak (80–99%) | In 1 aandoening |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Heel vaak (80–99%) | In 4 aandoeningen |
| MCOLN1mucolipin TRP cation channel 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MEFVMEFV innate immunity regulator, pyrin | Heel vaak (80–99%) | In 1 aandoening |
| MERTKMER proto-oncogene, tyrosine kinase | Heel vaak (80–99%) | In 1 aandoening |
| MFSD8major facilitator superfamily domain containing 8 | Heel vaak (80–99%) | In 1 aandoening |
| NEK2NIMA related kinase 2 | Heel vaak (80–99%) | In 1 aandoening |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| NRLneural retina leucine zipper | Heel vaak (80–99%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Heel vaak (80–99%) | In 2 aandoeningen |
| OPN1LWopsin 1, long wave sensitive | Heel vaak (80–99%) | In 3 aandoeningen |
| OPN1MWopsin 1, medium wave sensitive | Heel vaak (80–99%) | In 3 aandoeningen |
| 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 |
| PDE6Cphosphodiesterase 6C | Heel vaak (80–99%) | In 3 aandoeningen |
| PDE6Gphosphodiesterase 6G | Heel vaak (80–99%) | In 1 aandoening |
| PITPNM3PITPNM family member 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| POC1BPOC1 centriolar protein B | Heel vaak (80–99%) | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Heel vaak (80–99%) | In 1 aandoening |
| PRCDphotoreceptor disc component | Heel vaak (80–99%) | In 1 aandoening |
| 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 |
| 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 8 aandoeningen |
| RAB28RAB28, member RAS oncogene family | Heel vaak (80–99%) | In 1 aandoening |
| RAX2retina and anterior neural fold homeobox 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| RBP3retinol binding protein 3 | Heel vaak (80–99%) | In 1 aandoening |
| RDH12retinol dehydrogenase 12 | Heel vaak (80–99%) | In 2 aandoeningen |
| 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 |
| RIMS1regulating synaptic membrane exocytosis 1 | Heel vaak (80–99%) | In 1 aandoening |
| RLBP1retinaldehyde binding protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| 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 |
| RTN4IP1reticulon 4 interacting protein 1 | 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 |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| SEMA4Asemaphorin 4A | Heel vaak (80–99%) | In 3 aandoeningen |
| SLC1A3solute carrier family 1 member 3 | 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 3 aandoeningen |
| SREBF1sterol regulatory element binding transcription factor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| STAT4signal transducer and activator of transcription 4 | Heel vaak (80–99%) | In 1 aandoening |
| TACSTD2tumor associated calcium signal transducer 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| TLCD3BTLC domain containing 3B | Heel vaak (80–99%) | In 2 aandoeningen |
| TLR4toll like receptor 4 | Heel vaak (80–99%) | In 1 aandoening |
| TMEM216transmembrane protein 216 | Heel vaak (80–99%) | In 1 aandoening |
| 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 3 aandoeningen |
| TTLL5tubulin tyrosine ligase like 5 | Heel vaak (80–99%) | In 1 aandoening |
| TUBTUB bipartite transcription factor | Heel vaak (80–99%) | In 1 aandoening |
| TULP1TUB like protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| TYRtyrosinase | Heel vaak (80–99%) | In 4 aandoeningen |
| UBAC2UBA domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| UNC119unc-119 lipid binding chaperone | Heel vaak (80–99%) | In 2 aandoeningen |
| 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 |
| AHSGalpha 2-HS glycoprotein | Vaak (30–79%) | In 1 aandoening |
| AIREautoimmune regulator | 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 |
| BLOC1S5biogenesis of lysosomal organelles complex 1 subunit 5 | Vaak (30–79%) | In 1 aandoening |
| CABP4calcium binding protein 4 | Vaak (30–79%) | In 3 aandoeningen |
| CEP19centrosomal protein 19 | Vaak (30–79%) | In 1 aandoening |
| CEP250centrosomal protein 250 | Vaak (30–79%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Vaak (30–79%) | In 2 aandoeningen |
| CEP78centrosomal protein 78 | Vaak (30–79%) | In 1 aandoening |
| CLTRNcollectrin, amino acid transport regulator | Vaak (30–79%) | In 1 aandoening |
| COL17A1collagen type XVII alpha 1 chain | Vaak (30–79%) | In 2 aandoeningen |
| COL4A1collagen type IV alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Vaak (30–79%) | In 1 aandoening |
| DCTdopachrome tautomerase | Vaak (30–79%) | In 1 aandoening |
| ELOVL1ELOVL fatty acid elongase 1 | Vaak (30–79%) | In 1 aandoening |
| ELOVL4ELOVL fatty acid elongase 4 | Vaak (30–79%) | In 1 aandoening |
| GDF6growth differentiation factor 6 | Vaak (30–79%) | In 1 aandoening |
| GJB6gap junction protein beta 6 | Vaak (30–79%) | In 2 aandoeningen |
| GNB3G protein subunit beta 3 | Vaak (30–79%) | In 1 aandoening |
| GUSBglucuronidase beta | Vaak (30–79%) | In 1 aandoening |
| HLA-Amajor histocompatibility complex, class I, A | Vaak (30–79%) | In 1 aandoening |
| IFT27intraflagellar transport 27 | Vaak (30–79%) | In 1 aandoening |
| IFT74intraflagellar transport 74 | Vaak (30–79%) | In 1 aandoening |
| IQCB1IQ motif containing B1 | Vaak (30–79%) | In 1 aandoening |
| ITGB6integrin subunit beta 6 | Vaak (30–79%) | In 1 aandoening |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Vaak (30–79%) | In 3 aandoeningen |
| LCA5lebercilin LCA5 | Vaak (30–79%) | In 2 aandoeningen |
| LSSlanosterol synthase | Vaak (30–79%) | In 1 aandoening |
| LTBP2latent transforming growth factor beta binding protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| LYSTlysosomal trafficking regulator | Vaak (30–79%) | In 2 aandoeningen |
| LZTFL1leucine zipper transcription factor like 1 | Vaak (30–79%) | In 1 aandoening |
| MAPTmicrotubule associated protein tau | Vaak (30–79%) | In 2 aandoeningen |
| MC1Rmelanocortin 1 receptor | 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 |
| MYOCmyocilin | Vaak (30–79%) | In 1 aandoening |
| NLRP1NLR family pyrin domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| NOD2nucleotide binding oligomerization domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| NPHP1nephrocystin 1 | Vaak (30–79%) | In 1 aandoening |
| OCA2OCA2 melanosomal transmembrane protein | Vaak (30–79%) | In 1 aandoening |
| OTX2orthodenticle homeobox 2 | Vaak (30–79%) | In 2 aandoeningen |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Vaak (30–79%) | In 1 aandoening |
| PLCD1phospholipase C delta 1 | Vaak (30–79%) | In 1 aandoening |
| POLHDNA polymerase eta | Vaak (30–79%) | In 2 aandoeningen |
| RD3RD3 regulator of GUCY2D | Vaak (30–79%) | In 1 aandoening |
| RDH5retinol dehydrogenase 5 | Vaak (30–79%) | In 1 aandoening |
| SCLT1sodium channel and clathrin linker 1 | Vaak (30–79%) | In 1 aandoening |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Vaak (30–79%) | In 1 aandoening |
| SLC39A4solute carrier family 39 member 4 | Vaak (30–79%) | In 1 aandoening |
| SLC45A2solute carrier family 45 member 2 | Vaak (30–79%) | In 1 aandoening |
| SLC6A19solute carrier family 6 member 19 | Vaak (30–79%) | In 1 aandoening |
| ST14ST14 transmembrane serine protease matriptase | Vaak (30–79%) | In 1 aandoening |
| TATtyrosine aminotransferase | Vaak (30–79%) | In 1 aandoening |
| TEKTEK receptor tyrosine kinase | Vaak (30–79%) | In 1 aandoening |
| TGFBItransforming growth factor beta induced | Vaak (30–79%) | In 5 aandoeningen |
| TP63tumor protein p63 | Vaak (30–79%) | In 2 aandoeningen |
| TRANK1tetratricopeptide repeat and ankyrin repeat containing 1 | Vaak (30–79%) | In 1 aandoening |
| TRIM32tripartite motif containing 32 | Vaak (30–79%) | In 1 aandoening |
| TUBB4Btubulin beta 4B class IVb | Vaak (30–79%) | In 2 aandoeningen |
| USP45ubiquitin specific peptidase 45 | Vaak (30–79%) | In 1 aandoening |
| WDPCPWD repeat containing planar cell polarity effector | Vaak (30–79%) | In 1 aandoening |
| WNT10AWnt family member 10A | Vaak (30–79%) | In 2 aandoeningen |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| ATXN7ataxin 7 | Soms (5–29%) | In 1 aandoening |
| C1QTNF5C1q and TNF related 5 | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CFHcomplement factor H | Soms (5–29%) | In 1 aandoening |
| CFIcomplement factor I | Soms (5–29%) | In 1 aandoening |
| CHST6carbohydrate sulfotransferase 6 | Soms (5–29%) | In 2 aandoeningen |
| CRYGCcrystallin gamma C | Soms (5–29%) | In 1 aandoening |
| DBR1debranching RNA lariats 1 | Soms (5–29%) | In 1 aandoening |
| DDB2damage specific DNA binding protein 2 | Soms (5–29%) | In 2 aandoeningen |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Soms (5–29%) | In 1 aandoening |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Soms (5–29%) | In 1 aandoening |
| EPCAMepithelial cell adhesion molecule | Soms (5–29%) | In 1 aandoening |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Soms (5–29%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Soms (5–29%) | In 4 aandoeningen |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Soms (5–29%) | In 2 aandoeningen |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Soms (5–29%) | In 2 aandoeningen |
| ERCC5ERCC excision repair 5, endonuclease | Soms (5–29%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Soms (5–29%) | In 3 aandoeningen |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Soms (5–29%) | In 3 aandoeningen |
| FDXRferredoxin reductase | Soms (5–29%) | In 1 aandoening |
| FOXC1forkhead box C1 | Soms (5–29%) | In 1 aandoening |
| FZD5frizzled class receptor 5 | Soms (5–29%) | In 1 aandoening |
| GALCgalactosylceramidase | Soms (5–29%) | In 1 aandoening |
| GTF2E2general transcription factor IIE subunit 2 | Soms (5–29%) | In 1 aandoening |
| GTF2H5general transcription factor IIH subunit 5 | Soms (5–29%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Soms (5–29%) | In 2 aandoeningen |
| HPD4-hydroxyphenylpyruvate dioxygenase | Soms (5–29%) | In 1 aandoening |
| IKZF1IKAROS family zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| KRT14keratin 14 | Soms (5–29%) | In 1 aandoening |
| KRT5keratin 5 | Soms (5–29%) | In 1 aandoening |
| LAMP2lysosome associated membrane protein 2 | Soms (5–29%) | In 1 aandoening |
| LRP1LDL receptor related protein 1 | Soms (5–29%) | In 1 aandoening |
| MFRPmembrane frizzled-related protein | Soms (5–29%) | In 1 aandoening |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| NOTCH2NLCnotch 2 N-terminal like C | Soms (5–29%) | In 1 aandoening |
| OPN1SWopsin 1, short wave sensitive | Soms (5–29%) | In 1 aandoening |
| PAX6paired box 6 | Soms (5–29%) | In 1 aandoening |
| PSAPprosaposin | Soms (5–29%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Soms (5–29%) | In 1 aandoening |
| RNF113Aring finger protein 113A | Soms (5–29%) | In 1 aandoening |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Soms (5–29%) | In 2 aandoeningen |
| TRIM44TRIM family member 44 | Soms (5–29%) | In 1 aandoening |
| XPAXPA, DNA damage recognition and repair factor | Soms (5–29%) | In 1 aandoening |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Soms (5–29%) | In 2 aandoeningen |
| COL8A2collagen type VIII alpha 2 chain | Zelden (1–4%) | In 1 aandoening |
| GJA1gap junction protein alpha 1 | Zelden (1–4%) | In 1 aandoening |
| GRHL2grainyhead like transcription factor 2 | Zelden (1–4%) | In 1 aandoening |
| OVOL2ovo like zinc finger 2 | Zelden (1–4%) | In 2 aandoeningen |
| VSX1visual system homeobox 1 | Zelden (1–4%) | In 1 aandoening |
| ZEB1zinc finger E-box binding homeobox 1 | Zelden (1–4%) | In 1 aandoening |
| ANTXR1ANTXR cell adhesion molecule 1 | Niet vastgelegd | In 1 aandoening |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Niet vastgelegd | In 1 aandoening |
| CLCC1chloride channel CLIC like 1 | Niet vastgelegd | In 1 aandoening |
| EDNRAendothelin receptor type A | Niet vastgelegd | In 1 aandoening |
| ESR1estrogen receptor 1 | Niet vastgelegd | In 1 aandoening |
| HK1hexokinase 1 | Niet vastgelegd | In 1 aandoening |
| INPP5Einositol polyphosphate-5-phosphatase E | Niet vastgelegd | In 1 aandoening |
| KCNV2potassium voltage-gated channel modifier subfamily V member 2 | Niet vastgelegd | In 1 aandoening |
| KRT12keratin 12 | Niet vastgelegd | In 1 aandoening |
| KRT3keratin 3 | Niet vastgelegd | In 1 aandoening |
| LRMDAleucine rich melanocyte differentiation associated | Niet vastgelegd | In 1 aandoening |
| NLRP3NLR family pyrin domain containing 3 | Niet vastgelegd | In 1 aandoening |
| PIKFYVEphosphoinositide kinase, FYVE-type zinc finger containing | Niet vastgelegd | In 1 aandoening |
| PNPLA6patatin like domain 6, lysophospholipase | Niet vastgelegd | In 1 aandoening |
| TNFtumor necrosis factor | 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.
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.
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