Trait
Extreme sensitivity of the eyes to light
Clinical name: Photophobia
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Summary
- Also called
- Light hypersensitivity, Photodysphoria
Reference genomeGRCh38hg38
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Changes in these genes cause rare conditions in which Extreme sensitivity of the eyes to light is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Always | In 1 condition |
| AHRaryl hydrocarbon receptor | Always | In 2 conditions |
| ALMS1ALMS1 centrosome and basal body associated protein | Always | In 4 conditions |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Always | In 1 condition |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Always | In 1 condition |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Always | In 3 conditions |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Always | In 3 conditions |
| CST6cystatin E/M | Always | In 1 condition |
| CTNScystinosin, lysosomal cystine transporter | Always | In 6 conditions |
| GANgigaxonin | Always | In 1 condition |
| GJB2gap junction protein beta 2 | Always | In 2 conditions |
| GPR143G protein-coupled receptor 143 | Always | In 2 conditions |
| GTF2H4general transcription factor IIH subunit 4 | Always | In 1 condition |
| HARS1histidyl-tRNA synthetase 1 | Always | In 1 condition |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Always | In 1 condition |
| HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | Always | In 1 condition |
| IKZF2IKAROS family zinc finger 2 | Always | In 1 condition |
| ITM2Bintegral membrane protein 2B | Always | In 1 condition |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Always | In 1 condition |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Always | In 1 condition |
| PCNAproliferating cell nuclear antigen | Always | In 2 conditions |
| PDE6Hphosphodiesterase 6H | Always | In 2 conditions |
| POLA1DNA polymerase alpha 1, catalytic subunit | Always | In 1 condition |
| RGS9regulator of G protein signaling 9 | Always | In 2 conditions |
| RGS9BPregulator of G protein signaling 9 binding protein | Always | In 2 conditions |
| RIMS2regulating synaptic membrane exocytosis 2 | Always | In 1 condition |
| RPGRretinitis pigmentosa GTPase regulator | Always | In 5 conditions |
| RPGRIP1RPGR interacting protein 1 | Always | In 4 conditions |
| SLC24A5solute carrier family 24 member 5 | Always | In 2 conditions |
| UBAP1Lubiquitin associated protein 1 like | Always | In 2 conditions |
| ABCA4ATP binding cassette subfamily A member 4 | Very often (80–99%) | In 2 conditions |
| ADAM9ADAM metallopeptidase domain 9 | Very often (80–99%) | In 1 condition |
| AGBL5AGBL carboxypeptidase 5 | Very often (80–99%) | In 1 condition |
| AHI1Abelson helper integration site 1 | Very often (80–99%) | In 1 condition |
| AIPL1AIP like 1 HSP90 co-chaperone | Very often (80–99%) | In 2 conditions |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Very often (80–99%) | In 2 conditions |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Very often (80–99%) | In 2 conditions |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Very often (80–99%) | In 1 condition |
| ARL2BPARF like GTPase 2 binding protein | Very often (80–99%) | In 1 condition |
| ARL3ARF like GTPase 3 | Very often (80–99%) | In 1 condition |
Show 272 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| ARL6ARF like GTPase 6 | Very often (80–99%) | In 2 conditions |
| ATF6activating transcription factor 6 | Very often (80–99%) | In 3 conditions |
| BBS1Bardet-Biedl syndrome 1 | Very often (80–99%) | In 2 conditions |
| BBS2Bardet-Biedl syndrome 2 | Very often (80–99%) | In 2 conditions |
| BEST1bestrophin 1 | Very often (80–99%) | In 1 condition |
| C4Acomplement C4A (Chido/Rodgers blood group) | Very often (80–99%) | In 1 condition |
| CA4carbonic anhydrase 4 | Very often (80–99%) | In 1 condition |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Very often (80–99%) | In 2 conditions |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Very often (80–99%) | In 2 conditions |
| CC2D2Acoiled-coil and C2 domain containing 2A | Very often (80–99%) | In 1 condition |
| CCR1C-C motif chemokine receptor 1 | Very often (80–99%) | In 1 condition |
| CDHR1cadherin related family member 1 | Very often (80–99%) | In 3 conditions |
| CERKLCERK like autophagy regulator | Very often (80–99%) | In 1 condition |
| CFAP20cilia and flagella associated protein 20 | Very often (80–99%) | In 1 condition |
| CFAP410cilia and flagella associated protein 410 | Very often (80–99%) | In 2 conditions |
| CFAP418cilia and flagella associated protein 418 | Very often (80–99%) | In 4 conditions |
| CLRN1clarin 1 | Very often (80–99%) | In 1 condition |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Very often (80–99%) | In 1 condition |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Very often (80–99%) | In 1 condition |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Very often (80–99%) | In 2 conditions |
| COQ8Bcoenzyme Q8B | Very often (80–99%) | In 1 condition |
| CRB1crumbs cell polarity complex component 1 | Very often (80–99%) | In 2 conditions |
| CRXcone-rod homeobox | Very often (80–99%) | In 4 conditions |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Very often (80–99%) | In 1 condition |
| DHX38DEAH-box helicase 38 | Very often (80–99%) | In 1 condition |
| DRAM2DNA damage regulated autophagy modulator 2 | Very often (80–99%) | In 2 conditions |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Very often (80–99%) | In 1 condition |
| EYSEGF-like photoreceptor maintenance factor | Very often (80–99%) | In 2 conditions |
| FAM161AFAM161 centrosomal protein A | Very often (80–99%) | In 1 condition |
| FASFas cell surface death receptor | Very often (80–99%) | In 2 conditions |
| FOXC2forkhead box C2 | Very often (80–99%) | In 2 conditions |
| FSCN2fascin actin-bundling protein 2, retinal | Very often (80–99%) | In 1 condition |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Very often (80–99%) | In 2 conditions |
| GNAT2G protein subunit alpha transducin 2 | Very often (80–99%) | In 3 conditions |
| GUCA1Aguanylate cyclase activator 1A | Very often (80–99%) | In 3 conditions |
| GUCA1Bguanylate cyclase activator 1B | Very often (80–99%) | In 1 condition |
| GUCY2Dguanylate cyclase 2D, retinal | Very often (80–99%) | In 4 conditions |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Very often (80–99%) | In 1 condition |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Very often (80–99%) | In 1 condition |
| HKDC1hexokinase domain containing 1 | Very often (80–99%) | In 1 condition |
| HLA-Bmajor histocompatibility complex, class I, B | Very often (80–99%) | In 3 conditions |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Very often (80–99%) | In 1 condition |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Very often (80–99%) | In 1 condition |
| IFNGR1interferon gamma receptor 1 | Very often (80–99%) | In 1 condition |
| IFT140intraflagellar transport 140 | Very often (80–99%) | In 2 conditions |
| IFT172intraflagellar transport 172 | Very often (80–99%) | In 2 conditions |
| IFT43intraflagellar transport 43 | Very often (80–99%) | In 1 condition |
| IFT88intraflagellar transport 88 | Very often (80–99%) | In 1 condition |
| IL10interleukin 10 | Very often (80–99%) | In 1 condition |
| IL12Ainterleukin 12A | Very often (80–99%) | In 1 condition |
| IL12A-AS1IL12A antisense RNA 1 | Very often (80–99%) | In 1 condition |
| IL23Rinterleukin 23 receptor | Very often (80–99%) | In 1 condition |
| IMPDH1inosine monophosphate dehydrogenase 1 | Very often (80–99%) | In 2 conditions |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Very often (80–99%) | In 1 condition |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Very often (80–99%) | In 1 condition |
| KIAA1549KIAA1549 | Very often (80–99%) | In 1 condition |
| KIZkizuna centrosomal protein | Very often (80–99%) | In 1 condition |
| KLHL7kelch like family member 7 | Very often (80–99%) | In 1 condition |
| KLRC4killer cell lectin like receptor C4 | Very often (80–99%) | In 1 condition |
| LRATlecithin retinol acyltransferase | Very often (80–99%) | In 4 conditions |
| MAKmale germ cell associated kinase | Very often (80–99%) | In 1 condition |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Very often (80–99%) | In 4 conditions |
| MCOLN1mucolipin TRP cation channel 1 | Very often (80–99%) | In 2 conditions |
| MEFVMEFV innate immunity regulator, pyrin | Very often (80–99%) | In 1 condition |
| MERTKMER proto-oncogene, tyrosine kinase | Very often (80–99%) | In 1 condition |
| MFSD8major facilitator superfamily domain containing 8 | Very often (80–99%) | In 1 condition |
| NEK2NIMA related kinase 2 | Very often (80–99%) | In 1 condition |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Very often (80–99%) | In 3 conditions |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Very often (80–99%) | In 2 conditions |
| NRLneural retina leucine zipper | Very often (80–99%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Very often (80–99%) | In 2 conditions |
| OPN1LWopsin 1, long wave sensitive | Very often (80–99%) | In 3 conditions |
| OPN1MWopsin 1, medium wave sensitive | Very often (80–99%) | In 3 conditions |
| PCAREphotoreceptor cilium actin regulator | Very often (80–99%) | In 1 condition |
| PDE6Aphosphodiesterase 6A | Very often (80–99%) | In 1 condition |
| PDE6Bphosphodiesterase 6B | Very often (80–99%) | In 1 condition |
| PDE6Cphosphodiesterase 6C | Very often (80–99%) | In 3 conditions |
| PDE6Gphosphodiesterase 6G | Very often (80–99%) | In 1 condition |
| PITPNM3PITPNM family member 3 | Very often (80–99%) | In 2 conditions |
| POC1BPOC1 centriolar protein B | Very often (80–99%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Very often (80–99%) | In 1 condition |
| PRCDphotoreceptor disc component | Very often (80–99%) | In 1 condition |
| PROM1prominin 1 | Very often (80–99%) | In 2 conditions |
| PRPF3pre-mRNA processing factor 3 | Very often (80–99%) | In 1 condition |
| PRPF31pre-mRNA processing factor 31 | Very often (80–99%) | In 1 condition |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Very often (80–99%) | In 1 condition |
| PRPF6pre-mRNA processing factor 6 | Very often (80–99%) | In 1 condition |
| PRPF8pre-mRNA processing factor 8 | Very often (80–99%) | In 1 condition |
| PRPH2peripherin 2 | Very often (80–99%) | In 8 conditions |
| RAB28RAB28, member RAS oncogene family | Very often (80–99%) | In 1 condition |
| RAX2retina and anterior neural fold homeobox 2 | Very often (80–99%) | In 2 conditions |
| RBP3retinol binding protein 3 | Very often (80–99%) | In 1 condition |
| RDH12retinol dehydrogenase 12 | Very often (80–99%) | In 2 conditions |
| REEP6receptor accessory protein 6 | Very often (80–99%) | In 1 condition |
| RGRretinal G protein coupled receptor | Very often (80–99%) | In 1 condition |
| RHOrhodopsin | Very often (80–99%) | In 2 conditions |
| RIMS1regulating synaptic membrane exocytosis 1 | Very often (80–99%) | In 1 condition |
| RLBP1retinaldehyde binding protein 1 | Very often (80–99%) | In 2 conditions |
| RNU4-2RNA, U4 small nuclear 2 | Very often (80–99%) | In 1 condition |
| RNU6-1RNA, U6 small nuclear 1 | Very often (80–99%) | In 1 condition |
| RNU6-2RNA, U6 small nuclear 2 | Very often (80–99%) | In 1 condition |
| RNU6-8RNA, U6 small nuclear 8 | Very often (80–99%) | In 1 condition |
| RNU6-9RNA, U6 small nuclear 9 | Very often (80–99%) | In 1 condition |
| ROM1retinal outer segment membrane protein 1 | Very often (80–99%) | In 1 condition |
| RP1RP1 axonemal microtubule associated | Very often (80–99%) | In 1 condition |
| RP1L1RP1 like 1 | Very often (80–99%) | In 1 condition |
| RP2RP2 activator of ARL3 GTPase | Very often (80–99%) | In 1 condition |
| RP9RP9 pre-mRNA splicing factor | Very often (80–99%) | In 1 condition |
| RPE65retinoid isomerohydrolase RPE65 | Very often (80–99%) | In 3 conditions |
| RTN4IP1reticulon 4 interacting protein 1 | Very often (80–99%) | In 1 condition |
| SAGS-antigen visual arrestin | Very often (80–99%) | In 1 condition |
| SAXO6stabilizer of axonemal microtubules 6 | Very often (80–99%) | In 1 condition |
| SCAPERS-phase cyclin A associated protein in the ER | Very often (80–99%) | In 2 conditions |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Very often (80–99%) | In 1 condition |
| SEMA4Asemaphorin 4A | Very often (80–99%) | In 3 conditions |
| SLC1A3solute carrier family 1 member 3 | Very often (80–99%) | In 2 conditions |
| SLC7A14solute carrier family 7 member 14 | Very often (80–99%) | In 1 condition |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Very often (80–99%) | In 1 condition |
| SPATA7spermatogenesis associated 7 | Very often (80–99%) | In 3 conditions |
| SREBF1sterol regulatory element binding transcription factor 1 | Very often (80–99%) | In 2 conditions |
| STAT4signal transducer and activator of transcription 4 | Very often (80–99%) | In 1 condition |
| TACSTD2tumor associated calcium signal transducer 2 | Very often (80–99%) | In 2 conditions |
| TLCD3BTLC domain containing 3B | Very often (80–99%) | In 2 conditions |
| TLR4toll like receptor 4 | Very often (80–99%) | In 1 condition |
| TMEM216transmembrane protein 216 | Very often (80–99%) | In 1 condition |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Very often (80–99%) | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Very often (80–99%) | In 3 conditions |
| TTLL5tubulin tyrosine ligase like 5 | Very often (80–99%) | In 1 condition |
| TUBTUB bipartite transcription factor | Very often (80–99%) | In 1 condition |
| TULP1TUB like protein 1 | Very often (80–99%) | In 2 conditions |
| TYRtyrosinase | Very often (80–99%) | In 4 conditions |
| UBAC2UBA domain containing 2 | Very often (80–99%) | In 1 condition |
| UNC119unc-119 lipid binding chaperone | Very often (80–99%) | In 2 conditions |
| USH2Ausherin | Very often (80–99%) | In 1 condition |
| ZNF408zinc finger protein 408 | Very often (80–99%) | In 2 conditions |
| ZNF513zinc finger protein 513 | Very often (80–99%) | In 1 condition |
| AHSGalpha 2-HS glycoprotein | Often (30–79%) | In 1 condition |
| AIREautoimmune regulator | Often (30–79%) | In 1 condition |
| BBIP1BBSome interacting protein 1 | Often (30–79%) | In 1 condition |
| BBS10Bardet-Biedl syndrome 10 | Often (30–79%) | In 1 condition |
| BBS12Bardet-Biedl syndrome 12 | Often (30–79%) | In 1 condition |
| BBS4Bardet-Biedl syndrome 4 | Often (30–79%) | In 1 condition |
| BBS5Bardet-Biedl syndrome 5 | Often (30–79%) | In 1 condition |
| BBS7Bardet-Biedl syndrome 7 | Often (30–79%) | In 1 condition |
| BBS9Bardet-Biedl syndrome 9 | Often (30–79%) | In 1 condition |
| BLOC1S5biogenesis of lysosomal organelles complex 1 subunit 5 | Often (30–79%) | In 1 condition |
| CABP4calcium binding protein 4 | Often (30–79%) | In 3 conditions |
| CEP19centrosomal protein 19 | Often (30–79%) | In 1 condition |
| CEP250centrosomal protein 250 | Often (30–79%) | In 1 condition |
| CEP290centrosomal protein 290 | Often (30–79%) | In 2 conditions |
| CEP78centrosomal protein 78 | Often (30–79%) | In 1 condition |
| CLTRNcollectrin, amino acid transport regulator | Often (30–79%) | In 1 condition |
| COL17A1collagen type XVII alpha 1 chain | Often (30–79%) | In 2 conditions |
| COL4A1collagen type IV alpha 1 chain | Often (30–79%) | In 1 condition |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Often (30–79%) | In 1 condition |
| DCTdopachrome tautomerase | Often (30–79%) | In 1 condition |
| ELOVL1ELOVL fatty acid elongase 1 | Often (30–79%) | In 1 condition |
| ELOVL4ELOVL fatty acid elongase 4 | Often (30–79%) | In 1 condition |
| GDF6growth differentiation factor 6 | Often (30–79%) | In 1 condition |
| GJB6gap junction protein beta 6 | Often (30–79%) | In 2 conditions |
| GNB3G protein subunit beta 3 | Often (30–79%) | In 1 condition |
| GUSBglucuronidase beta | Often (30–79%) | In 1 condition |
| HLA-Amajor histocompatibility complex, class I, A | Often (30–79%) | In 1 condition |
| IFT27intraflagellar transport 27 | Often (30–79%) | In 1 condition |
| IFT74intraflagellar transport 74 | Often (30–79%) | In 1 condition |
| IQCB1IQ motif containing B1 | Often (30–79%) | In 1 condition |
| ITGB6integrin subunit beta 6 | Often (30–79%) | In 1 condition |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Often (30–79%) | In 3 conditions |
| LCA5lebercilin LCA5 | Often (30–79%) | In 2 conditions |
| LSSlanosterol synthase | Often (30–79%) | In 1 condition |
| LTBP2latent transforming growth factor beta binding protein 2 | Often (30–79%) | In 2 conditions |
| LYSTlysosomal trafficking regulator | Often (30–79%) | In 2 conditions |
| LZTFL1leucine zipper transcription factor like 1 | Often (30–79%) | In 1 condition |
| MAPTmicrotubule associated protein tau | Often (30–79%) | In 2 conditions |
| MC1Rmelanocortin 1 receptor | Often (30–79%) | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Often (30–79%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Often (30–79%) | In 1 condition |
| MYOCmyocilin | Often (30–79%) | In 1 condition |
| NLRP1NLR family pyrin domain containing 1 | Often (30–79%) | In 1 condition |
| NOD2nucleotide binding oligomerization domain containing 2 | Often (30–79%) | In 1 condition |
| NPHP1nephrocystin 1 | Often (30–79%) | In 1 condition |
| OCA2OCA2 melanosomal transmembrane protein | Often (30–79%) | In 1 condition |
| OTX2orthodenticle homeobox 2 | Often (30–79%) | In 2 conditions |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Often (30–79%) | In 1 condition |
| PLCD1phospholipase C delta 1 | Often (30–79%) | In 1 condition |
| POLHDNA polymerase eta | Often (30–79%) | In 2 conditions |
| RD3RD3 regulator of GUCY2D | Often (30–79%) | In 1 condition |
| RDH5retinol dehydrogenase 5 | Often (30–79%) | In 1 condition |
| SCLT1sodium channel and clathrin linker 1 | Often (30–79%) | In 1 condition |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Often (30–79%) | In 1 condition |
| SLC39A4solute carrier family 39 member 4 | Often (30–79%) | In 1 condition |
| SLC45A2solute carrier family 45 member 2 | Often (30–79%) | In 1 condition |
| SLC6A19solute carrier family 6 member 19 | Often (30–79%) | In 1 condition |
| ST14ST14 transmembrane serine protease matriptase | Often (30–79%) | In 1 condition |
| TATtyrosine aminotransferase | Often (30–79%) | In 1 condition |
| TEKTEK receptor tyrosine kinase | Often (30–79%) | In 1 condition |
| TGFBItransforming growth factor beta induced | Often (30–79%) | In 5 conditions |
| TP63tumor protein p63 | Often (30–79%) | In 2 conditions |
| TRANK1tetratricopeptide repeat and ankyrin repeat containing 1 | Often (30–79%) | In 1 condition |
| TRIM32tripartite motif containing 32 | Often (30–79%) | In 1 condition |
| TUBB4Btubulin beta 4B class IVb | Often (30–79%) | In 2 conditions |
| USP45ubiquitin specific peptidase 45 | Often (30–79%) | In 1 condition |
| WDPCPWD repeat containing planar cell polarity effector | Often (30–79%) | In 1 condition |
| WNT10AWnt family member 10A | Often (30–79%) | In 2 conditions |
| AARS1alanyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| ATXN7ataxin 7 | Sometimes (5–29%) | In 1 condition |
| C1QTNF5C1q and TNF related 5 | Sometimes (5–29%) | In 1 condition |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| CFHcomplement factor H | Sometimes (5–29%) | In 1 condition |
| CFIcomplement factor I | Sometimes (5–29%) | In 1 condition |
| CHST6carbohydrate sulfotransferase 6 | Sometimes (5–29%) | In 2 conditions |
| CRYGCcrystallin gamma C | Sometimes (5–29%) | In 1 condition |
| DBR1debranching RNA lariats 1 | Sometimes (5–29%) | In 1 condition |
| DDB2damage specific DNA binding protein 2 | Sometimes (5–29%) | In 2 conditions |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Sometimes (5–29%) | In 1 condition |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Sometimes (5–29%) | In 1 condition |
| EPCAMepithelial cell adhesion molecule | Sometimes (5–29%) | In 1 condition |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Sometimes (5–29%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 4 conditions |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 2 conditions |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Sometimes (5–29%) | In 2 conditions |
| ERCC5ERCC excision repair 5, endonuclease | Sometimes (5–29%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sometimes (5–29%) | In 3 conditions |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sometimes (5–29%) | In 3 conditions |
| FDXRferredoxin reductase | Sometimes (5–29%) | In 1 condition |
| FOXC1forkhead box C1 | Sometimes (5–29%) | In 1 condition |
| FZD5frizzled class receptor 5 | Sometimes (5–29%) | In 1 condition |
| GALCgalactosylceramidase | Sometimes (5–29%) | In 1 condition |
| GTF2E2general transcription factor IIE subunit 2 | Sometimes (5–29%) | In 1 condition |
| GTF2H5general transcription factor IIH subunit 5 | Sometimes (5–29%) | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sometimes (5–29%) | In 2 conditions |
| HPD4-hydroxyphenylpyruvate dioxygenase | Sometimes (5–29%) | In 1 condition |
| IKZF1IKAROS family zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| KRT14keratin 14 | Sometimes (5–29%) | In 1 condition |
| KRT5keratin 5 | Sometimes (5–29%) | In 1 condition |
| LAMP2lysosome associated membrane protein 2 | Sometimes (5–29%) | In 1 condition |
| LRP1LDL receptor related protein 1 | Sometimes (5–29%) | In 1 condition |
| MFRPmembrane frizzled-related protein | Sometimes (5–29%) | In 1 condition |
| MPLKIPM-phase specific PLK1 interacting protein | Sometimes (5–29%) | In 1 condition |
| NOTCH2NLCnotch 2 N-terminal like C | Sometimes (5–29%) | In 1 condition |
| OPN1SWopsin 1, short wave sensitive | Sometimes (5–29%) | In 1 condition |
| PAX6paired box 6 | Sometimes (5–29%) | In 1 condition |
| PSAPprosaposin | Sometimes (5–29%) | In 1 condition |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Sometimes (5–29%) | In 1 condition |
| RNF113Aring finger protein 113A | Sometimes (5–29%) | In 1 condition |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| TARS1threonyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Sometimes (5–29%) | In 2 conditions |
| TRIM44TRIM family member 44 | Sometimes (5–29%) | In 1 condition |
| XPAXPA, DNA damage recognition and repair factor | Sometimes (5–29%) | In 1 condition |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Sometimes (5–29%) | In 2 conditions |
| COL8A2collagen type VIII alpha 2 chain | Rarely (1–4%) | In 1 condition |
| GJA1gap junction protein alpha 1 | Rarely (1–4%) | In 1 condition |
| GRHL2grainyhead like transcription factor 2 | Rarely (1–4%) | In 1 condition |
| OVOL2ovo like zinc finger 2 | Rarely (1–4%) | In 2 conditions |
| VSX1visual system homeobox 1 | Rarely (1–4%) | In 1 condition |
| ZEB1zinc finger E-box binding homeobox 1 | Rarely (1–4%) | In 1 condition |
| ANTXR1ANTXR cell adhesion molecule 1 | Not recorded | In 1 condition |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Not recorded | In 1 condition |
| CLCC1chloride channel CLIC like 1 | Not recorded | In 1 condition |
| EDNRAendothelin receptor type A | Not recorded | In 1 condition |
| ESR1estrogen receptor 1 | Not recorded | In 1 condition |
| HK1hexokinase 1 | Not recorded | In 1 condition |
| INPP5Einositol polyphosphate-5-phosphatase E | Not recorded | In 1 condition |
| KCNV2potassium voltage-gated channel modifier subfamily V member 2 | Not recorded | In 1 condition |
| KRT12keratin 12 | Not recorded | In 1 condition |
| KRT3keratin 3 | Not recorded | In 1 condition |
| LRMDAleucine rich melanocyte differentiation associated | Not recorded | In 1 condition |
| NLRP3NLR family pyrin domain containing 3 | Not recorded | In 1 condition |
| PIKFYVEphosphoinositide kinase, FYVE-type zinc finger containing | Not recorded | In 1 condition |
| PNPLA6patatin like domain 6, lysophospholipase | Not recorded | In 1 condition |
| TNFtumor necrosis factor | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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