Cecha
Decreased clarity of vision
Nazwa kliniczna: Reduced visual acuity
Podsumowanie
- Znana także jako
- Decreased central vision, Decreased visual acuity, Poor visual acuity
- Układ organizmu
- Abnormality of the eye
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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Zamawiam Genome Test362 genów powiązanych z Decreased clarity of vision
Zmiany w tych genach powodują rzadkie choroby, w których występuje Decreased clarity of vision. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ABCA4ATP binding cassette subfamily A member 4 | Zawsze | W 4 chorobach |
| ACO2aconitase 2 | Zawsze | W 1 chorobie |
| AHRaryl hydrocarbon receptor | Zawsze | W 2 chorobach |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Zawsze | W 2 chorobach |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Zawsze | W 1 chorobie |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Zawsze | W 2 chorobach |
| ARL2ARF like GTPase 2 | Zawsze | W 1 chorobie |
| ARL2BPARF like GTPase 2 binding protein | Zawsze | W 2 chorobach |
| ARL3ARF like GTPase 3 | Zawsze | W 2 chorobach |
| ARL6ARF like GTPase 6 | Zawsze | W 3 chorobach |
| ATF6activating transcription factor 6 | Zawsze | W 2 chorobach |
| BBS1Bardet-Biedl syndrome 1 | Zawsze | W 3 chorobach |
| BBS2Bardet-Biedl syndrome 2 | Zawsze | W 3 chorobach |
| BBS5Bardet-Biedl syndrome 5 | Zawsze | W 2 chorobach |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Zawsze | W 1 chorobie |
| BLOC1S5biogenesis of lysosomal organelles complex 1 subunit 5 | Zawsze | W 1 chorobie |
| BORCS8BLOC-1 related complex subunit 8 | Zawsze | W 1 chorobie |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Zawsze | W 3 chorobach |
| CC2D2Acoiled-coil and C2 domain containing 2A | Zawsze | W 2 chorobach |
| CCDC28Bcoiled-coil domain containing 28B | Zawsze | W 1 chorobie |
| CDH3cadherin 3 | Zawsze | W 1 chorobie |
| CEP250centrosomal protein 250 | Zawsze | W 1 chorobie |
| CEP290centrosomal protein 290 | Zawsze | W 3 chorobach |
| CHRDL1chordin like 1 | Zawsze | W 1 chorobie |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Zawsze | W 2 chorobach |
| CLRN1clarin 1 | Zawsze | W 2 chorobach |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Zawsze | W 2 chorobach |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Zawsze | W 2 chorobach |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Zawsze | W 2 chorobach |
| CRB1crumbs cell polarity complex component 1 | Zawsze | W 3 chorobach |
| CRXcone-rod homeobox | Zawsze | W 2 chorobach |
| DCTdopachrome tautomerase | Zawsze | W 1 chorobie |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Zawsze | W 2 chorobach |
| DNA2DNA replication helicase/nuclease 2 | Zawsze | W 1 chorobie |
| DTNBP1dystrobrevin binding protein 1 | Zawsze | W 1 chorobie |
| EBPEBP cholestenol delta-isomerase | Zawsze | W 1 chorobie |
| ELOVL4ELOVL fatty acid elongase 4 | Zawsze | W 2 chorobach |
| EPG5ectopic P-granules 5 autophagy tethering factor | Zawsze | W 1 chorobie |
| FBN1fibrillin 1 | Zawsze | W 1 chorobie |
| FDXRferredoxin reductase | Zawsze | W 1 chorobie |
Pokaż jeszcze 322 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| FOXE3forkhead box E3 | Zawsze | W 1 chorobie |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Zawsze | W 2 chorobach |
| GPR143G protein-coupled receptor 143 | Zawsze | W 2 chorobach |
| GUCY2Dguanylate cyclase 2D, retinal | Zawsze | W 3 chorobach |
| HPS3HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 | Zawsze | W 1 chorobie |
| HPS4HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 | Zawsze | W 1 chorobie |
| HPS5HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 | Zawsze | W 1 chorobie |
| HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | Zawsze | W 1 chorobie |
| IMPDH1inosine monophosphate dehydrogenase 1 | Zawsze | W 3 chorobach |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Zawsze | W 3 chorobach |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Zawsze | W 1 chorobie |
| ITM2Bintegral membrane protein 2B | Zawsze | W 1 chorobie |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Zawsze | W 1 chorobie |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Zawsze | W 2 chorobach |
| KERAkeratocan | Zawsze | W 1 chorobie |
| KLC4kinesin light chain 4 | Zawsze | W 1 chorobie |
| KLHL7kelch like family member 7 | Zawsze | W 2 chorobach |
| LAMB2laminin subunit beta 2 | Zawsze | W 1 chorobie |
| LIM2lens intrinsic membrane protein 2 | Zawsze | W 1 chorobie |
| LRIT3leucine rich repeat, Ig-like and transmembrane domains 3 | Zawsze | W 1 chorobie |
| LRMDAleucine rich melanocyte differentiation associated | Zawsze | W 1 chorobie |
| LRP5LDL receptor related protein 5 | Zawsze | W 5 chorobach |
| MAGmyelin associated glycoprotein | Zawsze | W 1 chorobie |
| MAKmale germ cell associated kinase | Zawsze | W 2 chorobach |
| MARK3microtubule affinity regulating kinase 3 | Zawsze | W 1 chorobie |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Zawsze | W 1 chorobie |
| MFRPmembrane frizzled-related protein | Zawsze | W 2 chorobach |
| MFSD8major facilitator superfamily domain containing 8 | Zawsze | W 1 chorobie |
| MIEF1mitochondrial elongation factor 1 | Zawsze | W 1 chorobie |
| MTRFRmitochondrial translation release factor in rescue | Zawsze | W 2 chorobach |
| NDPnorrin cystine knot growth factor NDP | Zawsze | W 4 chorobach |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Zawsze | W 1 chorobie |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Zawsze | W 2 chorobach |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Zawsze | W 2 chorobach |
| NRLneural retina leucine zipper | Zawsze | W 3 chorobach |
| PANK4pantothenate kinase 4 (inactive) | Zawsze | W 1 chorobie |
| PAX2paired box 2 | Zawsze | W 1 chorobie |
| PAX6paired box 6 | Zawsze | W 5 chorobach |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Zawsze | W 1 chorobie |
| PDE6Cphosphodiesterase 6C | Zawsze | W 2 chorobach |
| PDE6Gphosphodiesterase 6G | Zawsze | W 2 chorobach |
| PDE6Hphosphodiesterase 6H | Zawsze | W 2 chorobach |
| PDXKpyridoxal kinase | Zawsze | W 1 chorobie |
| PEX7peroxisomal biogenesis factor 7 | Zawsze | W 1 chorobie |
| POC1BPOC1 centriolar protein B | Zawsze | W 1 chorobie |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Zawsze | W 2 chorobach |
| PROM1prominin 1 | Zawsze | W 5 chorobach |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Zawsze | W 2 chorobach |
| PRPF6pre-mRNA processing factor 6 | Zawsze | W 2 chorobach |
| PRPH2peripherin 2 | Zawsze | W 6 chorobach |
| PXDNperoxidasin | Zawsze | W 1 chorobie |
| RAB28RAB28, member RAS oncogene family | Zawsze | W 1 chorobie |
| RAB3ARAB3A, member RAS oncogene family | Zawsze | W 1 chorobie |
| RAX2retina and anterior neural fold homeobox 2 | Zawsze | W 1 chorobie |
| RBP3retinol binding protein 3 | Zawsze | W 2 chorobach |
| RBP4retinol binding protein 4 | Zawsze | W 1 chorobie |
| REEP6receptor accessory protein 6 | Zawsze | W 2 chorobach |
| RFT1RFT1 glycolipid translocator homolog | Zawsze | W 1 chorobie |
| RGS9regulator of G protein signaling 9 | Zawsze | W 1 chorobie |
| RGS9BPregulator of G protein signaling 9 binding protein | Zawsze | W 1 chorobie |
| RHOrhodopsin | Zawsze | W 2 chorobach |
| RIMS2regulating synaptic membrane exocytosis 2 | Zawsze | W 1 chorobie |
| RLBP1retinaldehyde binding protein 1 | Zawsze | W 2 chorobach |
| RP1L1RP1 like 1 | Zawsze | W 2 chorobach |
| RPE65retinoid isomerohydrolase RPE65 | Zawsze | W 3 chorobach |
| RPGRretinitis pigmentosa GTPase regulator | Zawsze | W 5 chorobach |
| RPGRIP1RPGR interacting protein 1 | Zawsze | W 2 chorobach |
| RTN4IP1reticulon 4 interacting protein 1 | Zawsze | W 1 chorobie |
| SALL2spalt like transcription factor 2 | Zawsze | W 1 chorobie |
| SCAPERS-phase cyclin A associated protein in the ER | Zawsze | W 3 chorobach |
| SCO2synthesis of cytochrome C oxidase 2 | Zawsze | W 1 chorobie |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Zawsze | W 2 chorobach |
| SLC24A5solute carrier family 24 member 5 | Zawsze | W 2 chorobach |
| SLC38A8solute carrier family 38 member 8 | Zawsze | W 1 chorobie |
| SLC4A2solute carrier family 4 member 2 | Zawsze | W 1 chorobie |
| SLC7A14solute carrier family 7 member 14 | Zawsze | W 2 chorobach |
| TBC1D32TBC1 domain family member 32 | Zawsze | W 2 chorobach |
| TENM3teneurin transmembrane protein 3 | Zawsze | W 1 chorobie |
| TGFBItransforming growth factor beta induced | Zawsze | W 6 chorobach |
| TLCD3BTLC domain containing 3B | Zawsze | W 1 chorobie |
| TMEM216transmembrane protein 216 | Zawsze | W 2 chorobach |
| TMEM98transmembrane protein 98 | Zawsze | W 1 chorobie |
| TOMM7translocase of outer mitochondrial membrane 7 | Zawsze | W 1 chorobie |
| TRIM44TRIM family member 44 | Zawsze | W 2 chorobach |
| TRPM1transient receptor potential cation channel subfamily M member 1 | Zawsze | W 1 chorobie |
| TTC8tetratricopeptide repeat domain 8 | Zawsze | W 3 chorobach |
| TTLL5tubulin tyrosine ligase like 5 | Zawsze | W 1 chorobie |
| TUBTUB bipartite transcription factor | Zawsze | W 2 chorobach |
| TUBA3Dtubulin alpha 3d | Zawsze | W 1 chorobie |
| TUBB4Btubulin beta 4B class IVb | Zawsze | W 1 chorobie |
| TULP1TUB like protein 1 | Zawsze | W 3 chorobach |
| UCHL1ubiquitin C-terminal hydrolase L1 | Zawsze | W 1 chorobie |
| VWA8von Willebrand factor A domain containing 8 | Zawsze | W 1 chorobie |
| WFS1wolframin ER transmembrane glycoprotein | Zawsze | W 1 chorobie |
| ZEB1zinc finger E-box binding homeobox 1 | Zawsze | W 4 chorobach |
| ZNF408zinc finger protein 408 | Zawsze | W 4 chorobach |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Bardzo często (80–99%) | W 1 chorobie |
| AGBL1AGBL carboxypeptidase 1 | Bardzo często (80–99%) | W 1 chorobie |
| AIREautoimmune regulator | Bardzo często (80–99%) | W 2 chorobach |
| ATOH7atonal bHLH transcription factor 7 | Bardzo często (80–99%) | W 1 chorobie |
| COL8A2collagen type VIII alpha 2 chain | Bardzo często (80–99%) | W 2 chorobach |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Bardzo często (80–99%) | W 1 chorobie |
| DNMBPdynamin binding protein | Bardzo często (80–99%) | W 1 chorobie |
| FOXC1forkhead box C1 | Bardzo często (80–99%) | W 1 chorobie |
| FZD4frizzled class receptor 4 | Bardzo często (80–99%) | W 4 chorobach |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Bardzo często (80–99%) | W 3 chorobach |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Bardzo często (80–99%) | W 1 chorobie |
| RP1RP1 axonemal microtubule associated | Bardzo często (80–99%) | W 2 chorobach |
| SAGS-antigen visual arrestin | Bardzo często (80–99%) | W 2 chorobach |
| SAMD7sterile alpha motif domain containing 7 | Bardzo często (80–99%) | W 1 chorobie |
| SLC45A2solute carrier family 45 member 2 | Bardzo często (80–99%) | W 1 chorobie |
| SLC4A11solute carrier family 4 member 11 | Bardzo często (80–99%) | W 3 chorobach |
| TCF4transcription factor 4 | Bardzo często (80–99%) | W 1 chorobie |
| UBAP1Lubiquitin associated protein 1 like | Bardzo często (80–99%) | W 1 chorobie |
| ADGRV1adhesion G protein-coupled receptor V1 | Często (30–79%) | W 1 chorobie |
| ALMS1ALMS1 centrosome and basal body associated protein | Często (30–79%) | W 1 chorobie |
| ASPHaspartate beta-hydroxylase | Często (30–79%) | W 1 chorobie |
| ATXN7ataxin 7 | Często (30–79%) | W 1 chorobie |
| BBIP1BBSome interacting protein 1 | Często (30–79%) | W 1 chorobie |
| BBS10Bardet-Biedl syndrome 10 | Często (30–79%) | W 1 chorobie |
| BBS12Bardet-Biedl syndrome 12 | Często (30–79%) | W 1 chorobie |
| BBS4Bardet-Biedl syndrome 4 | Często (30–79%) | W 1 chorobie |
| BBS7Bardet-Biedl syndrome 7 | Często (30–79%) | W 1 chorobie |
| BBS9Bardet-Biedl syndrome 9 | Często (30–79%) | W 1 chorobie |
| CABP4calcium binding protein 4 | Często (30–79%) | W 1 chorobie |
| CDH23cadherin related 23 | Często (30–79%) | W 1 chorobie |
| CEP19centrosomal protein 19 | Często (30–79%) | W 1 chorobie |
| CFAP410cilia and flagella associated protein 410 | Często (30–79%) | W 1 chorobie |
| CFAP418cilia and flagella associated protein 418 | Często (30–79%) | W 3 chorobach |
| CHP1calcineurin like EF-hand protein 1 | Często (30–79%) | W 1 chorobie |
| CLCN7Cl-/H+ antiporter 7 | Często (30–79%) | W 1 chorobie |
| CLEC3BC-type lectin domain family 3 member B | Często (30–79%) | W 1 chorobie |
| CTNNA1catenin alpha 1 | Często (30–79%) | W 1 chorobie |
| CTNNB1catenin beta 1 | Często (30–79%) | W 1 chorobie |
| ESPNespin | Często (30–79%) | W 1 chorobie |
| FZD5frizzled class receptor 5 | Często (30–79%) | W 1 chorobie |
| GNAT2G protein subunit alpha transducin 2 | Często (30–79%) | W 1 chorobie |
| GSNgelsolin | Często (30–79%) | W 1 chorobie |
| GUCA1Aguanylate cyclase activator 1A | Często (30–79%) | W 2 chorobach |
| H4C9H4 clustered histone 9 | Często (30–79%) | W 1 chorobie |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Często (30–79%) | W 2 chorobach |
| IFT172intraflagellar transport 172 | Często (30–79%) | W 2 chorobach |
| IFT27intraflagellar transport 27 | Często (30–79%) | W 1 chorobie |
| IFT74intraflagellar transport 74 | Często (30–79%) | W 1 chorobie |
| KIDINS220kinase D interacting substrate 220 | Często (30–79%) | W 1 chorobie |
| KIZkizuna centrosomal protein | Często (30–79%) | W 2 chorobach |
| LAMP2lysosome associated membrane protein 2 | Często (30–79%) | W 1 chorobie |
| LCA5lebercilin LCA5 | Często (30–79%) | W 1 chorobie |
| LRATlecithin retinol acyltransferase | Często (30–79%) | W 3 chorobach |
| LYSTlysosomal trafficking regulator | Często (30–79%) | W 2 chorobach |
| LZTFL1leucine zipper transcription factor like 1 | Często (30–79%) | W 1 chorobie |
| MC1Rmelanocortin 1 receptor | Często (30–79%) | W 2 chorobach |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Często (30–79%) | W 3 chorobach |
| MKKSMKKS centrosomal shuttling protein | Często (30–79%) | W 1 chorobie |
| MKS1MKS transition zone complex subunit 1 | Często (30–79%) | W 1 chorobie |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Często (30–79%) | W 1 chorobie |
| MYO7Amyosin VIIA | Często (30–79%) | W 2 chorobach |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Często (30–79%) | W 1 chorobie |
| NHSNHS actin remodeling regulator | Często (30–79%) | W 1 chorobie |
| NPHP1nephrocystin 1 | Często (30–79%) | W 1 chorobie |
| OCA2OCA2 melanosomal transmembrane protein | Często (30–79%) | W 2 chorobach |
| OTX2orthodenticle homeobox 2 | Często (30–79%) | W 1 chorobie |
| PCDH15protocadherin related 15 | Często (30–79%) | W 1 chorobie |
| PDZD7PDZ domain containing 7 | Często (30–79%) | W 1 chorobie |
| PI4KAphosphatidylinositol 4-kinase alpha | Często (30–79%) | W 1 chorobie |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Często (30–79%) | W 2 chorobach |
| POU3F4POU class 3 homeobox 4 | Często (30–79%) | W 1 chorobie |
| PUF60poly(U) binding splicing factor 60 | Często (30–79%) | W 1 chorobie |
| SCLT1sodium channel and clathrin linker 1 | Często (30–79%) | W 1 chorobie |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Często (30–79%) | W 1 chorobie |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Często (30–79%) | W 1 chorobie |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Często (30–79%) | W 1 chorobie |
| SDHDsuccinate dehydrogenase complex subunit D | Często (30–79%) | W 1 chorobie |
| SELENOIselenoprotein I | Często (30–79%) | W 2 chorobach |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Często (30–79%) | W 1 chorobie |
| SPATA7spermatogenesis associated 7 | Często (30–79%) | W 2 chorobach |
| TACSTD2tumor associated calcium signal transducer 2 | Często (30–79%) | W 2 chorobach |
| TRIM32tripartite motif containing 32 | Często (30–79%) | W 1 chorobie |
| TSEN15tRNA splicing endonuclease subunit 15 | Często (30–79%) | W 1 chorobie |
| TSEN2tRNA splicing endonuclease subunit 2 | Często (30–79%) | W 1 chorobie |
| TSEN34tRNA splicing endonuclease subunit 34 | Często (30–79%) | W 1 chorobie |
| TSEN54tRNA splicing endonuclease subunit 54 | Często (30–79%) | W 1 chorobie |
| TSPAN12tetraspanin 12 | Często (30–79%) | W 2 chorobach |
| UNC119unc-119 lipid binding chaperone | Często (30–79%) | W 1 chorobie |
| USH1CUSH1 protein network component harmonin | Często (30–79%) | W 1 chorobie |
| USH1GUSH1 protein network component sans | Często (30–79%) | W 1 chorobie |
| USH2Ausherin | Często (30–79%) | W 2 chorobach |
| VCANversican | Często (30–79%) | W 1 chorobie |
| VSX1visual system homeobox 1 | Często (30–79%) | W 2 chorobach |
| WDPCPWD repeat containing planar cell polarity effector | Często (30–79%) | W 1 chorobie |
| WHRNwhirlin | Często (30–79%) | W 1 chorobie |
| ABCC6ATP binding cassette subfamily C member 6 | Czasami (5–29%) | W 2 chorobach |
| ABCD1ATP binding cassette subfamily D member 1 | Czasami (5–29%) | W 1 chorobie |
| AGBL5AGBL carboxypeptidase 5 | Czasami (5–29%) | W 1 chorobie |
| AHI1Abelson helper integration site 1 | Czasami (5–29%) | W 1 chorobie |
| ANKRD55ankyrin repeat domain 55 | Czasami (5–29%) | W 1 chorobie |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Czasami (5–29%) | W 1 chorobie |
| ARMC9armadillo repeat containing 9 | Czasami (5–29%) | W 1 chorobie |
| ARSAarylsulfatase A | Czasami (5–29%) | W 3 chorobach |
| BEST1bestrophin 1 | Czasami (5–29%) | W 4 chorobach |
| CA4carbonic anhydrase 4 | Czasami (5–29%) | W 1 chorobie |
| CD247CD247 molecule | Czasami (5–29%) | W 1 chorobie |
| CDC42cell division cycle 42 | Czasami (5–29%) | W 1 chorobie |
| CDHR1cadherin related family member 1 | Czasami (5–29%) | W 1 chorobie |
| CERKLCERK like autophagy regulator | Czasami (5–29%) | W 1 chorobie |
| CFAP20cilia and flagella associated protein 20 | Czasami (5–29%) | W 1 chorobie |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Czasami (5–29%) | W 1 chorobie |
| COQ8Bcoenzyme Q8B | Czasami (5–29%) | W 1 chorobie |
| CRLS1cardiolipin synthase 1 | Czasami (5–29%) | W 1 chorobie |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Czasami (5–29%) | W 1 chorobie |
| DHX38DEAH-box helicase 38 | Czasami (5–29%) | W 1 chorobie |
| DLDdihydrolipoamide dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| DOT1LDOT1 like histone lysine methyltransferase | Czasami (5–29%) | W 1 chorobie |
| EYSEGF-like photoreceptor maintenance factor | Czasami (5–29%) | W 1 chorobie |
| FAM161AFAM161 centrosomal protein A | Czasami (5–29%) | W 1 chorobie |
| FBXL4F-box and leucine rich repeat protein 4 | Czasami (5–29%) | W 1 chorobie |
| FSCN2fascin actin-bundling protein 2, retinal | Czasami (5–29%) | W 1 chorobie |
| FXNfrataxin | Czasami (5–29%) | W 2 chorobach |
| GPR179G protein-coupled receptor 179 | Czasami (5–29%) | W 1 chorobie |
| GRHL2grainyhead like transcription factor 2 | Czasami (5–29%) | W 2 chorobach |
| GUCA1Bguanylate cyclase activator 1B | Czasami (5–29%) | W 1 chorobie |
| HKDC1hexokinase domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Czasami (5–29%) | W 2 chorobach |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Czasami (5–29%) | W 1 chorobie |
| IFT140intraflagellar transport 140 | Czasami (5–29%) | W 1 chorobie |
| IFT43intraflagellar transport 43 | Czasami (5–29%) | W 2 chorobach |
| IFT88intraflagellar transport 88 | Czasami (5–29%) | W 1 chorobie |
| IL2RAinterleukin 2 receptor subunit alpha | Czasami (5–29%) | W 1 chorobie |
| IL2RBinterleukin 2 receptor subunit beta | Czasami (5–29%) | W 1 chorobie |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Czasami (5–29%) | W 1 chorobie |
| KIAA1549KIAA1549 | Czasami (5–29%) | W 1 chorobie |
| KIF1Ckinesin family member 1C | Czasami (5–29%) | W 2 chorobach |
| LTBP2latent transforming growth factor beta binding protein 2 | Czasami (5–29%) | W 1 chorobie |
| MED16mediator complex subunit 16 | Czasami (5–29%) | W 1 chorobie |
| MERTKMER proto-oncogene, tyrosine kinase | Czasami (5–29%) | W 1 chorobie |
| MYOCmyocilin | Czasami (5–29%) | W 1 chorobie |
| NEK2NIMA related kinase 2 | Czasami (5–29%) | W 1 chorobie |
| OFD1OFD1 centriole and centriolar satellite protein | Czasami (5–29%) | W 1 chorobie |
| OPN1SWopsin 1, short wave sensitive | Czasami (5–29%) | W 1 chorobie |
| OVOL2ovo like zinc finger 2 | Czasami (5–29%) | W 1 chorobie |
| PCAREphotoreceptor cilium actin regulator | Czasami (5–29%) | W 1 chorobie |
| PDE6Aphosphodiesterase 6A | Czasami (5–29%) | W 1 chorobie |
| PDE6Bphosphodiesterase 6B | Czasami (5–29%) | W 1 chorobie |
| PRCDphotoreceptor disc component | Czasami (5–29%) | W 1 chorobie |
| PRIMPOLprimase and DNA directed polymerase | Czasami (5–29%) | W 1 chorobie |
| PRPF3pre-mRNA processing factor 3 | Czasami (5–29%) | W 1 chorobie |
| PRPF31pre-mRNA processing factor 31 | Czasami (5–29%) | W 2 chorobach |
| PRPF8pre-mRNA processing factor 8 | Czasami (5–29%) | W 1 chorobie |
| PSAPprosaposin | Czasami (5–29%) | W 3 chorobach |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Czasami (5–29%) | W 1 chorobie |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Czasami (5–29%) | W 1 chorobie |
| RDH12retinol dehydrogenase 12 | Czasami (5–29%) | W 2 chorobach |
| RGRretinal G protein coupled receptor | Czasami (5–29%) | W 1 chorobie |
| RNASEH1ribonuclease H1 | Czasami (5–29%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Czasami (5–29%) | W 1 chorobie |
| RNU6-1RNA, U6 small nuclear 1 | Czasami (5–29%) | W 1 chorobie |
| RNU6-2RNA, U6 small nuclear 2 | Czasami (5–29%) | W 1 chorobie |
| RNU6-8RNA, U6 small nuclear 8 | Czasami (5–29%) | W 1 chorobie |
| RNU6-9RNA, U6 small nuclear 9 | Czasami (5–29%) | W 1 chorobie |
| ROM1retinal outer segment membrane protein 1 | Czasami (5–29%) | W 1 chorobie |
| RP2RP2 activator of ARL3 GTPase | Czasami (5–29%) | W 1 chorobie |
| RP9RP9 pre-mRNA splicing factor | Czasami (5–29%) | W 1 chorobie |
| SAXO6stabilizer of axonemal microtubules 6 | Czasami (5–29%) | W 1 chorobie |
| SEMA4Asemaphorin 4A | Czasami (5–29%) | W 2 chorobach |
| SLC1A3solute carrier family 1 member 3 | Czasami (5–29%) | W 1 chorobie |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Czasami (5–29%) | W 1 chorobie |
| SPOUT1SPOUT domain containing methyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| STAT4signal transducer and activator of transcription 4 | Czasami (5–29%) | W 1 chorobie |
| TEFMtranscription elongation factor, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| TEKTEK receptor tyrosine kinase | Czasami (5–29%) | W 1 chorobie |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Czasami (5–29%) | W 1 chorobie |
| WASF1WASP family member 1 | Czasami (5–29%) | W 1 chorobie |
| XYLT1xylosyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| XYLT2xylosyltransferase 2 | Czasami (5–29%) | W 1 chorobie |
| ZNF513zinc finger protein 513 | Czasami (5–29%) | W 1 chorobie |
| COL4A1collagen type IV alpha 1 chain | Rzadko (1–4%) | W 1 chorobie |
| AIPL1AIP like 1 HSP90 co-chaperone | Nie odnotowano | W 1 chorobie |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Nie odnotowano | W 1 chorobie |
| CLCC1chloride channel CLIC like 1 | Nie odnotowano | W 1 chorobie |
| CRYBB1crystallin beta B1 | Nie odnotowano | W 1 chorobie |
| CTNScystinosin, lysosomal cystine transporter | Nie odnotowano | W 1 chorobie |
| DRAM2DNA damage regulated autophagy modulator 2 | Nie odnotowano | W 1 chorobie |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Nie odnotowano | W 1 chorobie |
| ELOVL1ELOVL fatty acid elongase 1 | Nie odnotowano | W 1 chorobie |
| FBN2fibrillin 2 | Nie odnotowano | W 1 chorobie |
| FRMD7FERM domain containing 7 | Nie odnotowano | W 1 chorobie |
| HK1hexokinase 1 | Nie odnotowano | W 1 chorobie |
| INPP5Einositol polyphosphate-5-phosphatase E | Nie odnotowano | W 1 chorobie |
| KCNV2potassium voltage-gated channel modifier subfamily V member 2 | Nie odnotowano | W 1 chorobie |
| KIF11kinesin family member 11 | Nie odnotowano | W 1 chorobie |
| KRT12keratin 12 | Nie odnotowano | W 1 chorobie |
| LRP6LDL receptor related protein 6 | Nie odnotowano | W 1 chorobie |
| LRPAP1LDL receptor related protein associated protein 1 | Nie odnotowano | W 1 chorobie |
| MAPKAPK3MAPK activated protein kinase 3 | Nie odnotowano | W 1 chorobie |
| MIR184microRNA 184 | Nie odnotowano | W 1 chorobie |
| MIR204microRNA 204 | Nie odnotowano | W 1 chorobie |
| MMACHCmetabolism of cobalamin associated C | Nie odnotowano | W 1 chorobie |
| MMP19matrix metallopeptidase 19 | Nie odnotowano | W 1 chorobie |
| NBASNBAS subunit of NRZ tethering complex | Nie odnotowano | W 1 chorobie |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Nie odnotowano | W 1 chorobie |
| OPA1OPA1 mitochondrial dynamin like GTPase | Nie odnotowano | W 2 chorobach |
| OPN1LWopsin 1, long wave sensitive | Nie odnotowano | W 1 chorobie |
| OPN1MWopsin 1, medium wave sensitive | Nie odnotowano | W 1 chorobie |
| PITPNM3PITPNM family member 3 | Nie odnotowano | W 1 chorobie |
| POMKprotein O-mannose kinase | Nie odnotowano | W 1 chorobie |
| PORCNporcupine O-acyltransferase | Nie odnotowano | W 1 chorobie |
| PRDX1peroxiredoxin 1 | Nie odnotowano | W 1 chorobie |
| RCBTB1RCC1 and BTB domain containing protein 1 | Nie odnotowano | W 1 chorobie |
| RHOAras homolog family member A | Nie odnotowano | W 1 chorobie |
| SCYL1SCY1 like pseudokinase 1 | Nie odnotowano | W 1 chorobie |
| SH3BP2SH3 domain binding protein 2 | Nie odnotowano | W 1 chorobie |
| SLC39A14solute carrier family 39 member 14 | Nie odnotowano | W 1 chorobie |
| SSBP1single stranded DNA binding protein 1 | Nie odnotowano | W 1 chorobie |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Nie odnotowano | W 1 chorobie |
| TMEM126Atransmembrane protein 126A | Nie odnotowano | W 1 chorobie |
| TUBGCP4tubulin gamma complex component 4 | Nie odnotowano | W 1 chorobie |
| TYRtyrosinase | Nie odnotowano | W 1 chorobie |
| UBIAD1UbiA prenyltransferase domain containing 1 | Nie odnotowano | W 1 chorobie |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Nie odnotowano | W 1 chorobie |
| VPS13Bvacuolar protein sorting 13 homolog B | Nie odnotowano | W 1 chorobie |
| WDR19WD repeat domain 19 | Nie odnotowano | W 1 chorobie |
| ZFYVE26zinc finger FYVE-type containing 26 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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