Trait
Decreased clarity of vision
Clinical name: Reduced visual acuity
Summary
- Also called
- Decreased central vision, Decreased visual acuity, Poor visual acuity
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Changes in these genes cause rare conditions in which Decreased clarity of vision 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 |
|---|---|---|
| ABCA4ATP binding cassette subfamily A member 4 | Always | In 4 conditions |
| ACO2aconitase 2 | Always | In 1 condition |
| AHRaryl hydrocarbon receptor | Always | In 2 conditions |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Always | In 2 conditions |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Always | In 1 condition |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Always | In 2 conditions |
| ARL2ARF like GTPase 2 | Always | In 1 condition |
| ARL2BPARF like GTPase 2 binding protein | Always | In 2 conditions |
| ARL3ARF like GTPase 3 | Always | In 2 conditions |
| ARL6ARF like GTPase 6 | Always | In 3 conditions |
| ATF6activating transcription factor 6 | Always | In 2 conditions |
| BBS1Bardet-Biedl syndrome 1 | Always | In 3 conditions |
| BBS2Bardet-Biedl syndrome 2 | Always | In 3 conditions |
| BBS5Bardet-Biedl syndrome 5 | Always | In 2 conditions |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Always | In 1 condition |
| BLOC1S5biogenesis of lysosomal organelles complex 1 subunit 5 | Always | In 1 condition |
| BORCS8BLOC-1 related complex subunit 8 | Always | In 1 condition |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Always | In 3 conditions |
| CC2D2Acoiled-coil and C2 domain containing 2A | Always | In 2 conditions |
| CCDC28Bcoiled-coil domain containing 28B | Always | In 1 condition |
| CDH3cadherin 3 | Always | In 1 condition |
| CEP250centrosomal protein 250 | Always | In 1 condition |
| CEP290centrosomal protein 290 | Always | In 3 conditions |
| CHRDL1chordin like 1 | Always | In 1 condition |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Always | In 2 conditions |
| CLRN1clarin 1 | Always | In 2 conditions |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Always | In 2 conditions |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Always | In 2 conditions |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Always | In 2 conditions |
| CRB1crumbs cell polarity complex component 1 | Always | In 3 conditions |
| CRXcone-rod homeobox | Always | In 2 conditions |
| DCTdopachrome tautomerase | Always | In 1 condition |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Always | In 2 conditions |
| DNA2DNA replication helicase/nuclease 2 | Always | In 1 condition |
| DTNBP1dystrobrevin binding protein 1 | Always | In 1 condition |
| EBPEBP cholestenol delta-isomerase | Always | In 1 condition |
| ELOVL4ELOVL fatty acid elongase 4 | Always | In 2 conditions |
| EPG5ectopic P-granules 5 autophagy tethering factor | Always | In 1 condition |
| FBN1fibrillin 1 | Always | In 1 condition |
| FDXRferredoxin reductase | Always | In 1 condition |
Show 322 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| FOXE3forkhead box E3 | Always | In 1 condition |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Always | In 2 conditions |
| GPR143G protein-coupled receptor 143 | Always | In 2 conditions |
| GUCY2Dguanylate cyclase 2D, retinal | Always | In 3 conditions |
| HPS3HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 | Always | In 1 condition |
| HPS4HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 | Always | In 1 condition |
| HPS5HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 | Always | In 1 condition |
| HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | Always | In 1 condition |
| IMPDH1inosine monophosphate dehydrogenase 1 | Always | In 3 conditions |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Always | In 3 conditions |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Always | In 1 condition |
| ITM2Bintegral membrane protein 2B | Always | In 1 condition |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Always | In 1 condition |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Always | In 2 conditions |
| KERAkeratocan | Always | In 1 condition |
| KLC4kinesin light chain 4 | Always | In 1 condition |
| KLHL7kelch like family member 7 | Always | In 2 conditions |
| LAMB2laminin subunit beta 2 | Always | In 1 condition |
| LIM2lens intrinsic membrane protein 2 | Always | In 1 condition |
| LRIT3leucine rich repeat, Ig-like and transmembrane domains 3 | Always | In 1 condition |
| LRMDAleucine rich melanocyte differentiation associated | Always | In 1 condition |
| LRP5LDL receptor related protein 5 | Always | In 5 conditions |
| MAGmyelin associated glycoprotein | Always | In 1 condition |
| MAKmale germ cell associated kinase | Always | In 2 conditions |
| MARK3microtubule affinity regulating kinase 3 | Always | In 1 condition |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Always | In 1 condition |
| MFRPmembrane frizzled-related protein | Always | In 2 conditions |
| MFSD8major facilitator superfamily domain containing 8 | Always | In 1 condition |
| MIEF1mitochondrial elongation factor 1 | Always | In 1 condition |
| MTRFRmitochondrial translation release factor in rescue | Always | In 2 conditions |
| NDPnorrin cystine knot growth factor NDP | Always | In 4 conditions |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Always | In 1 condition |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Always | In 2 conditions |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Always | In 2 conditions |
| NRLneural retina leucine zipper | Always | In 3 conditions |
| PANK4pantothenate kinase 4 (inactive) | Always | In 1 condition |
| PAX2paired box 2 | Always | In 1 condition |
| PAX6paired box 6 | Always | In 5 conditions |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Always | In 1 condition |
| PDE6Cphosphodiesterase 6C | Always | In 2 conditions |
| PDE6Gphosphodiesterase 6G | Always | In 2 conditions |
| PDE6Hphosphodiesterase 6H | Always | In 2 conditions |
| PDXKpyridoxal kinase | Always | In 1 condition |
| PEX7peroxisomal biogenesis factor 7 | Always | In 1 condition |
| POC1BPOC1 centriolar protein B | Always | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Always | In 2 conditions |
| PROM1prominin 1 | Always | In 5 conditions |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Always | In 2 conditions |
| PRPF6pre-mRNA processing factor 6 | Always | In 2 conditions |
| PRPH2peripherin 2 | Always | In 6 conditions |
| PXDNperoxidasin | Always | In 1 condition |
| RAB28RAB28, member RAS oncogene family | Always | In 1 condition |
| RAB3ARAB3A, member RAS oncogene family | Always | In 1 condition |
| RAX2retina and anterior neural fold homeobox 2 | Always | In 1 condition |
| RBP3retinol binding protein 3 | Always | In 2 conditions |
| RBP4retinol binding protein 4 | Always | In 1 condition |
| REEP6receptor accessory protein 6 | Always | In 2 conditions |
| RFT1RFT1 glycolipid translocator homolog | Always | In 1 condition |
| RGS9regulator of G protein signaling 9 | Always | In 1 condition |
| RGS9BPregulator of G protein signaling 9 binding protein | Always | In 1 condition |
| RHOrhodopsin | Always | In 2 conditions |
| RIMS2regulating synaptic membrane exocytosis 2 | Always | In 1 condition |
| RLBP1retinaldehyde binding protein 1 | Always | In 2 conditions |
| RP1L1RP1 like 1 | Always | In 2 conditions |
| RPE65retinoid isomerohydrolase RPE65 | Always | In 3 conditions |
| RPGRretinitis pigmentosa GTPase regulator | Always | In 5 conditions |
| RPGRIP1RPGR interacting protein 1 | Always | In 2 conditions |
| RTN4IP1reticulon 4 interacting protein 1 | Always | In 1 condition |
| SALL2spalt like transcription factor 2 | Always | In 1 condition |
| SCAPERS-phase cyclin A associated protein in the ER | Always | In 3 conditions |
| SCO2synthesis of cytochrome C oxidase 2 | Always | In 1 condition |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Always | In 2 conditions |
| SLC24A5solute carrier family 24 member 5 | Always | In 2 conditions |
| SLC38A8solute carrier family 38 member 8 | Always | In 1 condition |
| SLC4A2solute carrier family 4 member 2 | Always | In 1 condition |
| SLC7A14solute carrier family 7 member 14 | Always | In 2 conditions |
| TBC1D32TBC1 domain family member 32 | Always | In 2 conditions |
| TENM3teneurin transmembrane protein 3 | Always | In 1 condition |
| TGFBItransforming growth factor beta induced | Always | In 6 conditions |
| TLCD3BTLC domain containing 3B | Always | In 1 condition |
| TMEM216transmembrane protein 216 | Always | In 2 conditions |
| TMEM98transmembrane protein 98 | Always | In 1 condition |
| TOMM7translocase of outer mitochondrial membrane 7 | Always | In 1 condition |
| TRIM44TRIM family member 44 | Always | In 2 conditions |
| TRPM1transient receptor potential cation channel subfamily M member 1 | Always | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Always | In 3 conditions |
| TTLL5tubulin tyrosine ligase like 5 | Always | In 1 condition |
| TUBTUB bipartite transcription factor | Always | In 2 conditions |
| TUBA3Dtubulin alpha 3d | Always | In 1 condition |
| TUBB4Btubulin beta 4B class IVb | Always | In 1 condition |
| TULP1TUB like protein 1 | Always | In 3 conditions |
| UCHL1ubiquitin C-terminal hydrolase L1 | Always | In 1 condition |
| VWA8von Willebrand factor A domain containing 8 | Always | In 1 condition |
| WFS1wolframin ER transmembrane glycoprotein | Always | In 1 condition |
| ZEB1zinc finger E-box binding homeobox 1 | Always | In 4 conditions |
| ZNF408zinc finger protein 408 | Always | In 4 conditions |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Very often (80–99%) | In 1 condition |
| AGBL1AGBL carboxypeptidase 1 | Very often (80–99%) | In 1 condition |
| AIREautoimmune regulator | Very often (80–99%) | In 2 conditions |
| ATOH7atonal bHLH transcription factor 7 | Very often (80–99%) | In 1 condition |
| COL8A2collagen type VIII alpha 2 chain | Very often (80–99%) | In 2 conditions |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Very often (80–99%) | In 1 condition |
| DNMBPdynamin binding protein | Very often (80–99%) | In 1 condition |
| FOXC1forkhead box C1 | Very often (80–99%) | In 1 condition |
| FZD4frizzled class receptor 4 | Very often (80–99%) | In 4 conditions |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Very often (80–99%) | In 3 conditions |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Very often (80–99%) | In 1 condition |
| RP1RP1 axonemal microtubule associated | Very often (80–99%) | In 2 conditions |
| SAGS-antigen visual arrestin | Very often (80–99%) | In 2 conditions |
| SAMD7sterile alpha motif domain containing 7 | Very often (80–99%) | In 1 condition |
| SLC45A2solute carrier family 45 member 2 | Very often (80–99%) | In 1 condition |
| SLC4A11solute carrier family 4 member 11 | Very often (80–99%) | In 3 conditions |
| TCF4transcription factor 4 | Very often (80–99%) | In 1 condition |
| UBAP1Lubiquitin associated protein 1 like | Very often (80–99%) | In 1 condition |
| ADGRV1adhesion G protein-coupled receptor V1 | Often (30–79%) | In 1 condition |
| ALMS1ALMS1 centrosome and basal body associated protein | Often (30–79%) | In 1 condition |
| ASPHaspartate beta-hydroxylase | Often (30–79%) | In 1 condition |
| ATXN7ataxin 7 | 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 |
| BBS7Bardet-Biedl syndrome 7 | Often (30–79%) | In 1 condition |
| BBS9Bardet-Biedl syndrome 9 | Often (30–79%) | In 1 condition |
| CABP4calcium binding protein 4 | Often (30–79%) | In 1 condition |
| CDH23cadherin related 23 | Often (30–79%) | In 1 condition |
| CEP19centrosomal protein 19 | Often (30–79%) | In 1 condition |
| CFAP410cilia and flagella associated protein 410 | Often (30–79%) | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Often (30–79%) | In 3 conditions |
| CHP1calcineurin like EF-hand protein 1 | Often (30–79%) | In 1 condition |
| CLCN7Cl-/H+ antiporter 7 | Often (30–79%) | In 1 condition |
| CLEC3BC-type lectin domain family 3 member B | Often (30–79%) | In 1 condition |
| CTNNA1catenin alpha 1 | Often (30–79%) | In 1 condition |
| CTNNB1catenin beta 1 | Often (30–79%) | In 1 condition |
| ESPNespin | Often (30–79%) | In 1 condition |
| FZD5frizzled class receptor 5 | Often (30–79%) | In 1 condition |
| GNAT2G protein subunit alpha transducin 2 | Often (30–79%) | In 1 condition |
| GSNgelsolin | Often (30–79%) | In 1 condition |
| GUCA1Aguanylate cyclase activator 1A | Often (30–79%) | In 2 conditions |
| H4C9H4 clustered histone 9 | Often (30–79%) | In 1 condition |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Often (30–79%) | In 2 conditions |
| IFT172intraflagellar transport 172 | Often (30–79%) | In 2 conditions |
| IFT27intraflagellar transport 27 | Often (30–79%) | In 1 condition |
| IFT74intraflagellar transport 74 | Often (30–79%) | In 1 condition |
| KIDINS220kinase D interacting substrate 220 | Often (30–79%) | In 1 condition |
| KIZkizuna centrosomal protein | Often (30–79%) | In 2 conditions |
| LAMP2lysosome associated membrane protein 2 | Often (30–79%) | In 1 condition |
| LCA5lebercilin LCA5 | Often (30–79%) | In 1 condition |
| LRATlecithin retinol acyltransferase | Often (30–79%) | In 3 conditions |
| LYSTlysosomal trafficking regulator | Often (30–79%) | In 2 conditions |
| LZTFL1leucine zipper transcription factor like 1 | Often (30–79%) | In 1 condition |
| MC1Rmelanocortin 1 receptor | Often (30–79%) | In 2 conditions |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Often (30–79%) | In 3 conditions |
| MKKSMKKS centrosomal shuttling protein | Often (30–79%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Often (30–79%) | In 1 condition |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Often (30–79%) | In 1 condition |
| MYO7Amyosin VIIA | Often (30–79%) | In 2 conditions |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Often (30–79%) | In 1 condition |
| NHSNHS actin remodeling regulator | Often (30–79%) | In 1 condition |
| NPHP1nephrocystin 1 | Often (30–79%) | In 1 condition |
| OCA2OCA2 melanosomal transmembrane protein | Often (30–79%) | In 2 conditions |
| OTX2orthodenticle homeobox 2 | Often (30–79%) | In 1 condition |
| PCDH15protocadherin related 15 | Often (30–79%) | In 1 condition |
| PDZD7PDZ domain containing 7 | Often (30–79%) | In 1 condition |
| PI4KAphosphatidylinositol 4-kinase alpha | Often (30–79%) | In 1 condition |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Often (30–79%) | In 2 conditions |
| POU3F4POU class 3 homeobox 4 | Often (30–79%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Often (30–79%) | In 1 condition |
| SCLT1sodium channel and clathrin linker 1 | Often (30–79%) | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Often (30–79%) | In 1 condition |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Often (30–79%) | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Often (30–79%) | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Often (30–79%) | In 1 condition |
| SELENOIselenoprotein I | Often (30–79%) | In 2 conditions |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Often (30–79%) | In 1 condition |
| SPATA7spermatogenesis associated 7 | Often (30–79%) | In 2 conditions |
| TACSTD2tumor associated calcium signal transducer 2 | Often (30–79%) | In 2 conditions |
| TRIM32tripartite motif containing 32 | Often (30–79%) | In 1 condition |
| TSEN15tRNA splicing endonuclease subunit 15 | Often (30–79%) | In 1 condition |
| TSEN2tRNA splicing endonuclease subunit 2 | Often (30–79%) | In 1 condition |
| TSEN34tRNA splicing endonuclease subunit 34 | Often (30–79%) | In 1 condition |
| TSEN54tRNA splicing endonuclease subunit 54 | Often (30–79%) | In 1 condition |
| TSPAN12tetraspanin 12 | Often (30–79%) | In 2 conditions |
| UNC119unc-119 lipid binding chaperone | Often (30–79%) | In 1 condition |
| USH1CUSH1 protein network component harmonin | Often (30–79%) | In 1 condition |
| USH1GUSH1 protein network component sans | Often (30–79%) | In 1 condition |
| USH2Ausherin | Often (30–79%) | In 2 conditions |
| VCANversican | Often (30–79%) | In 1 condition |
| VSX1visual system homeobox 1 | Often (30–79%) | In 2 conditions |
| WDPCPWD repeat containing planar cell polarity effector | Often (30–79%) | In 1 condition |
| WHRNwhirlin | Often (30–79%) | In 1 condition |
| ABCC6ATP binding cassette subfamily C member 6 | Sometimes (5–29%) | In 2 conditions |
| ABCD1ATP binding cassette subfamily D member 1 | Sometimes (5–29%) | In 1 condition |
| AGBL5AGBL carboxypeptidase 5 | Sometimes (5–29%) | In 1 condition |
| AHI1Abelson helper integration site 1 | Sometimes (5–29%) | In 1 condition |
| ANKRD55ankyrin repeat domain 55 | Sometimes (5–29%) | In 1 condition |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Sometimes (5–29%) | In 1 condition |
| ARMC9armadillo repeat containing 9 | Sometimes (5–29%) | In 1 condition |
| ARSAarylsulfatase A | Sometimes (5–29%) | In 3 conditions |
| BEST1bestrophin 1 | Sometimes (5–29%) | In 4 conditions |
| CA4carbonic anhydrase 4 | Sometimes (5–29%) | In 1 condition |
| CD247CD247 molecule | Sometimes (5–29%) | In 1 condition |
| CDC42cell division cycle 42 | Sometimes (5–29%) | In 1 condition |
| CDHR1cadherin related family member 1 | Sometimes (5–29%) | In 1 condition |
| CERKLCERK like autophagy regulator | Sometimes (5–29%) | In 1 condition |
| CFAP20cilia and flagella associated protein 20 | Sometimes (5–29%) | In 1 condition |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Sometimes (5–29%) | In 1 condition |
| COQ8Bcoenzyme Q8B | Sometimes (5–29%) | In 1 condition |
| CRLS1cardiolipin synthase 1 | Sometimes (5–29%) | In 1 condition |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Sometimes (5–29%) | In 1 condition |
| DHX38DEAH-box helicase 38 | Sometimes (5–29%) | In 1 condition |
| DLDdihydrolipoamide dehydrogenase | Sometimes (5–29%) | In 1 condition |
| DOT1LDOT1 like histone lysine methyltransferase | Sometimes (5–29%) | In 1 condition |
| EYSEGF-like photoreceptor maintenance factor | Sometimes (5–29%) | In 1 condition |
| FAM161AFAM161 centrosomal protein A | Sometimes (5–29%) | In 1 condition |
| FBXL4F-box and leucine rich repeat protein 4 | Sometimes (5–29%) | In 1 condition |
| FSCN2fascin actin-bundling protein 2, retinal | Sometimes (5–29%) | In 1 condition |
| FXNfrataxin | Sometimes (5–29%) | In 2 conditions |
| GPR179G protein-coupled receptor 179 | Sometimes (5–29%) | In 1 condition |
| GRHL2grainyhead like transcription factor 2 | Sometimes (5–29%) | In 2 conditions |
| GUCA1Bguanylate cyclase activator 1B | Sometimes (5–29%) | In 1 condition |
| HKDC1hexokinase domain containing 1 | Sometimes (5–29%) | In 1 condition |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Sometimes (5–29%) | In 2 conditions |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Sometimes (5–29%) | In 1 condition |
| IFT140intraflagellar transport 140 | Sometimes (5–29%) | In 1 condition |
| IFT43intraflagellar transport 43 | Sometimes (5–29%) | In 2 conditions |
| IFT88intraflagellar transport 88 | Sometimes (5–29%) | In 1 condition |
| IL2RAinterleukin 2 receptor subunit alpha | Sometimes (5–29%) | In 1 condition |
| IL2RBinterleukin 2 receptor subunit beta | Sometimes (5–29%) | In 1 condition |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Sometimes (5–29%) | In 1 condition |
| KIAA1549KIAA1549 | Sometimes (5–29%) | In 1 condition |
| KIF1Ckinesin family member 1C | Sometimes (5–29%) | In 2 conditions |
| LTBP2latent transforming growth factor beta binding protein 2 | Sometimes (5–29%) | In 1 condition |
| MED16mediator complex subunit 16 | Sometimes (5–29%) | In 1 condition |
| MERTKMER proto-oncogene, tyrosine kinase | Sometimes (5–29%) | In 1 condition |
| MYOCmyocilin | Sometimes (5–29%) | In 1 condition |
| NEK2NIMA related kinase 2 | Sometimes (5–29%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Sometimes (5–29%) | In 1 condition |
| OPN1SWopsin 1, short wave sensitive | Sometimes (5–29%) | In 1 condition |
| OVOL2ovo like zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| PCAREphotoreceptor cilium actin regulator | Sometimes (5–29%) | In 1 condition |
| PDE6Aphosphodiesterase 6A | Sometimes (5–29%) | In 1 condition |
| PDE6Bphosphodiesterase 6B | Sometimes (5–29%) | In 1 condition |
| PRCDphotoreceptor disc component | Sometimes (5–29%) | In 1 condition |
| PRIMPOLprimase and DNA directed polymerase | Sometimes (5–29%) | In 1 condition |
| PRPF3pre-mRNA processing factor 3 | Sometimes (5–29%) | In 1 condition |
| PRPF31pre-mRNA processing factor 31 | Sometimes (5–29%) | In 2 conditions |
| PRPF8pre-mRNA processing factor 8 | Sometimes (5–29%) | In 1 condition |
| PSAPprosaposin | Sometimes (5–29%) | In 3 conditions |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Sometimes (5–29%) | In 1 condition |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Sometimes (5–29%) | In 1 condition |
| RDH12retinol dehydrogenase 12 | Sometimes (5–29%) | In 2 conditions |
| RGRretinal G protein coupled receptor | Sometimes (5–29%) | In 1 condition |
| RNASEH1ribonuclease H1 | Sometimes (5–29%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Sometimes (5–29%) | In 1 condition |
| RNU6-1RNA, U6 small nuclear 1 | Sometimes (5–29%) | In 1 condition |
| RNU6-2RNA, U6 small nuclear 2 | Sometimes (5–29%) | In 1 condition |
| RNU6-8RNA, U6 small nuclear 8 | Sometimes (5–29%) | In 1 condition |
| RNU6-9RNA, U6 small nuclear 9 | Sometimes (5–29%) | In 1 condition |
| ROM1retinal outer segment membrane protein 1 | Sometimes (5–29%) | In 1 condition |
| RP2RP2 activator of ARL3 GTPase | Sometimes (5–29%) | In 1 condition |
| RP9RP9 pre-mRNA splicing factor | Sometimes (5–29%) | In 1 condition |
| SAXO6stabilizer of axonemal microtubules 6 | Sometimes (5–29%) | In 1 condition |
| SEMA4Asemaphorin 4A | Sometimes (5–29%) | In 2 conditions |
| SLC1A3solute carrier family 1 member 3 | Sometimes (5–29%) | In 1 condition |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Sometimes (5–29%) | In 1 condition |
| SPOUT1SPOUT domain containing methyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| STAT4signal transducer and activator of transcription 4 | Sometimes (5–29%) | In 1 condition |
| TEFMtranscription elongation factor, mitochondrial | Sometimes (5–29%) | In 1 condition |
| TEKTEK receptor tyrosine kinase | Sometimes (5–29%) | In 1 condition |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Sometimes (5–29%) | In 1 condition |
| WASF1WASP family member 1 | Sometimes (5–29%) | In 1 condition |
| XYLT1xylosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| XYLT2xylosyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| ZNF513zinc finger protein 513 | Sometimes (5–29%) | In 1 condition |
| COL4A1collagen type IV alpha 1 chain | Rarely (1–4%) | In 1 condition |
| AIPL1AIP like 1 HSP90 co-chaperone | Not recorded | In 1 condition |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Not recorded | In 1 condition |
| CLCC1chloride channel CLIC like 1 | Not recorded | In 1 condition |
| CRYBB1crystallin beta B1 | Not recorded | In 1 condition |
| CTNScystinosin, lysosomal cystine transporter | Not recorded | In 1 condition |
| DRAM2DNA damage regulated autophagy modulator 2 | Not recorded | In 1 condition |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Not recorded | In 1 condition |
| ELOVL1ELOVL fatty acid elongase 1 | Not recorded | In 1 condition |
| FBN2fibrillin 2 | Not recorded | In 1 condition |
| FRMD7FERM domain containing 7 | 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 |
| KIF11kinesin family member 11 | Not recorded | In 1 condition |
| KRT12keratin 12 | Not recorded | In 1 condition |
| LRP6LDL receptor related protein 6 | Not recorded | In 1 condition |
| LRPAP1LDL receptor related protein associated protein 1 | Not recorded | In 1 condition |
| MAPKAPK3MAPK activated protein kinase 3 | Not recorded | In 1 condition |
| MIR184microRNA 184 | Not recorded | In 1 condition |
| MIR204microRNA 204 | Not recorded | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Not recorded | In 1 condition |
| MMP19matrix metallopeptidase 19 | Not recorded | In 1 condition |
| NBASNBAS subunit of NRZ tethering complex | Not recorded | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Not recorded | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Not recorded | In 2 conditions |
| OPN1LWopsin 1, long wave sensitive | Not recorded | In 1 condition |
| OPN1MWopsin 1, medium wave sensitive | Not recorded | In 1 condition |
| PITPNM3PITPNM family member 3 | Not recorded | In 1 condition |
| POMKprotein O-mannose kinase | Not recorded | In 1 condition |
| PORCNporcupine O-acyltransferase | Not recorded | In 1 condition |
| PRDX1peroxiredoxin 1 | Not recorded | In 1 condition |
| RCBTB1RCC1 and BTB domain containing protein 1 | Not recorded | In 1 condition |
| RHOAras homolog family member A | Not recorded | In 1 condition |
| SCYL1SCY1 like pseudokinase 1 | Not recorded | In 1 condition |
| SH3BP2SH3 domain binding protein 2 | Not recorded | In 1 condition |
| SLC39A14solute carrier family 39 member 14 | Not recorded | In 1 condition |
| SSBP1single stranded DNA binding protein 1 | Not recorded | In 1 condition |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Not recorded | In 1 condition |
| TMEM126Atransmembrane protein 126A | Not recorded | In 1 condition |
| TUBGCP4tubulin gamma complex component 4 | Not recorded | In 1 condition |
| TYRtyrosinase | Not recorded | In 1 condition |
| UBIAD1UbiA prenyltransferase domain containing 1 | Not recorded | In 1 condition |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Not recorded | In 1 condition |
| VPS13Bvacuolar protein sorting 13 homolog B | Not recorded | In 1 condition |
| WDR19WD repeat domain 19 | Not recorded | In 1 condition |
| ZFYVE26zinc finger FYVE-type containing 26 | 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.
Narrower traits
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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