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Egenskap
Decreased clarity of vision
Klinisk navn: Reduced visual acuity
Sammendrag
- Også kalt
- Decreased central vision, Decreased visual acuity, Poor visual acuity
- Kroppssystem
- Abnormality of the eye
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This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/reduced-visual-acuity.json"
page <- fromJSON(url)
page$trait$nameDecreased clarity of visionHP:0007663
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Logg innSpørKom i gangfra 449 $
Les genene knyttet til Decreased clarity of vision, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test362 gener knyttet til Decreased clarity of vision
Endringer i disse genene forårsaker sjeldne tilstander der Decreased clarity of vision forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ABCA4ATP binding cassette subfamily A member 4 | Alltid | I 4 tilstander |
| ACO2aconitase 2 | Alltid | I 1 tilstand |
| AHRaryl hydrocarbon receptor | Alltid | I 2 tilstander |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Alltid | I 2 tilstander |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Alltid | I 1 tilstand |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Alltid | I 2 tilstander |
| ARL2ARF like GTPase 2 | Alltid | I 1 tilstand |
| ARL2BPARF like GTPase 2 binding protein | Alltid | I 2 tilstander |
| ARL3ARF like GTPase 3 | Alltid | I 2 tilstander |
| ARL6ARF like GTPase 6 | Alltid | I 3 tilstander |
| ATF6activating transcription factor 6 | Alltid | I 2 tilstander |
| BBS1Bardet-Biedl syndrome 1 | Alltid | I 3 tilstander |
| BBS2Bardet-Biedl syndrome 2 | Alltid | I 3 tilstander |
| BBS5Bardet-Biedl syndrome 5 | Alltid | I 2 tilstander |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Alltid | I 1 tilstand |
| BLOC1S5biogenesis of lysosomal organelles complex 1 subunit 5 | Alltid | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Alltid | I 1 tilstand |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Alltid | I 3 tilstander |
| CC2D2Acoiled-coil and C2 domain containing 2A | Alltid | I 2 tilstander |
| CCDC28Bcoiled-coil domain containing 28B | Alltid | I 1 tilstand |
| CDH3cadherin 3 | Alltid | I 1 tilstand |
| CEP250centrosomal protein 250 | Alltid | I 1 tilstand |
| CEP290centrosomal protein 290 | Alltid | I 3 tilstander |
| CHRDL1chordin like 1 | Alltid | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Alltid | I 2 tilstander |
| CLRN1clarin 1 | Alltid | I 2 tilstander |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Alltid | I 2 tilstander |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Alltid | I 2 tilstander |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Alltid | I 2 tilstander |
| CRB1crumbs cell polarity complex component 1 | Alltid | I 3 tilstander |
| CRXcone-rod homeobox | Alltid | I 2 tilstander |
| DCTdopachrome tautomerase | Alltid | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Alltid | I 2 tilstander |
| DNA2DNA replication helicase/nuclease 2 | Alltid | I 1 tilstand |
| DTNBP1dystrobrevin binding protein 1 | Alltid | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Alltid | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Alltid | I 2 tilstander |
| EPG5ectopic P-granules 5 autophagy tethering factor | Alltid | I 1 tilstand |
| FBN1fibrillin 1 | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
Vis 322 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| FOXE3forkhead box E3 | Alltid | I 1 tilstand |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Alltid | I 2 tilstander |
| GPR143G protein-coupled receptor 143 | Alltid | I 2 tilstander |
| GUCY2Dguanylate cyclase 2D, retinal | Alltid | I 3 tilstander |
| HPS3HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 | Alltid | I 1 tilstand |
| HPS4HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 | Alltid | I 1 tilstand |
| HPS5HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 | Alltid | I 1 tilstand |
| HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | Alltid | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Alltid | I 3 tilstander |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Alltid | I 3 tilstander |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alltid | I 1 tilstand |
| ITM2Bintegral membrane protein 2B | Alltid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 1 tilstand |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Alltid | I 2 tilstander |
| KERAkeratocan | Alltid | I 1 tilstand |
| KLC4kinesin light chain 4 | Alltid | I 1 tilstand |
| KLHL7kelch like family member 7 | Alltid | I 2 tilstander |
| LAMB2laminin subunit beta 2 | Alltid | I 1 tilstand |
| LIM2lens intrinsic membrane protein 2 | Alltid | I 1 tilstand |
| LRIT3leucine rich repeat, Ig-like and transmembrane domains 3 | Alltid | I 1 tilstand |
| LRMDAleucine rich melanocyte differentiation associated | Alltid | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Alltid | I 5 tilstander |
| MAGmyelin associated glycoprotein | Alltid | I 1 tilstand |
| MAKmale germ cell associated kinase | Alltid | I 2 tilstander |
| MARK3microtubule affinity regulating kinase 3 | Alltid | I 1 tilstand |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Alltid | I 1 tilstand |
| MFRPmembrane frizzled-related protein | Alltid | I 2 tilstander |
| MFSD8major facilitator superfamily domain containing 8 | Alltid | I 1 tilstand |
| MIEF1mitochondrial elongation factor 1 | Alltid | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Alltid | I 2 tilstander |
| NDPnorrin cystine knot growth factor NDP | Alltid | I 4 tilstander |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Alltid | I 1 tilstand |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Alltid | I 2 tilstander |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Alltid | I 2 tilstander |
| NRLneural retina leucine zipper | Alltid | I 3 tilstander |
| PANK4pantothenate kinase 4 (inactive) | Alltid | I 1 tilstand |
| PAX2paired box 2 | Alltid | I 1 tilstand |
| PAX6paired box 6 | Alltid | I 5 tilstander |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Alltid | I 1 tilstand |
| PDE6Cphosphodiesterase 6C | Alltid | I 2 tilstander |
| PDE6Gphosphodiesterase 6G | Alltid | I 2 tilstander |
| PDE6Hphosphodiesterase 6H | Alltid | I 2 tilstander |
| PDXKpyridoxal kinase | Alltid | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Alltid | I 1 tilstand |
| POC1BPOC1 centriolar protein B | Alltid | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Alltid | I 2 tilstander |
| PROM1prominin 1 | Alltid | I 5 tilstander |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Alltid | I 2 tilstander |
| PRPF6pre-mRNA processing factor 6 | Alltid | I 2 tilstander |
| PRPH2peripherin 2 | Alltid | I 6 tilstander |
| PXDNperoxidasin | Alltid | I 1 tilstand |
| RAB28RAB28, member RAS oncogene family | Alltid | I 1 tilstand |
| RAB3ARAB3A, member RAS oncogene family | Alltid | I 1 tilstand |
| RAX2retina and anterior neural fold homeobox 2 | Alltid | I 1 tilstand |
| RBP3retinol binding protein 3 | Alltid | I 2 tilstander |
| RBP4retinol binding protein 4 | Alltid | I 1 tilstand |
| REEP6receptor accessory protein 6 | Alltid | I 2 tilstander |
| RFT1RFT1 glycolipid translocator homolog | Alltid | I 1 tilstand |
| RGS9regulator of G protein signaling 9 | Alltid | I 1 tilstand |
| RGS9BPregulator of G protein signaling 9 binding protein | Alltid | I 1 tilstand |
| RHOrhodopsin | Alltid | I 2 tilstander |
| RIMS2regulating synaptic membrane exocytosis 2 | Alltid | I 1 tilstand |
| RLBP1retinaldehyde binding protein 1 | Alltid | I 2 tilstander |
| RP1L1RP1 like 1 | Alltid | I 2 tilstander |
| RPE65retinoid isomerohydrolase RPE65 | Alltid | I 3 tilstander |
| RPGRretinitis pigmentosa GTPase regulator | Alltid | I 5 tilstander |
| RPGRIP1RPGR interacting protein 1 | Alltid | I 2 tilstander |
| RTN4IP1reticulon 4 interacting protein 1 | Alltid | I 1 tilstand |
| SALL2spalt like transcription factor 2 | Alltid | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Alltid | I 3 tilstander |
| SCO2synthesis of cytochrome C oxidase 2 | Alltid | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Alltid | I 2 tilstander |
| SLC24A5solute carrier family 24 member 5 | Alltid | I 2 tilstander |
| SLC38A8solute carrier family 38 member 8 | Alltid | I 1 tilstand |
| SLC4A2solute carrier family 4 member 2 | Alltid | I 1 tilstand |
| SLC7A14solute carrier family 7 member 14 | Alltid | I 2 tilstander |
| TBC1D32TBC1 domain family member 32 | Alltid | I 2 tilstander |
| TENM3teneurin transmembrane protein 3 | Alltid | I 1 tilstand |
| TGFBItransforming growth factor beta induced | Alltid | I 6 tilstander |
| TLCD3BTLC domain containing 3B | Alltid | I 1 tilstand |
| TMEM216transmembrane protein 216 | Alltid | I 2 tilstander |
| TMEM98transmembrane protein 98 | Alltid | I 1 tilstand |
| TOMM7translocase of outer mitochondrial membrane 7 | Alltid | I 1 tilstand |
| TRIM44TRIM family member 44 | Alltid | I 2 tilstander |
| TRPM1transient receptor potential cation channel subfamily M member 1 | Alltid | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Alltid | I 3 tilstander |
| TTLL5tubulin tyrosine ligase like 5 | Alltid | I 1 tilstand |
| TUBTUB bipartite transcription factor | Alltid | I 2 tilstander |
| TUBA3Dtubulin alpha 3d | Alltid | I 1 tilstand |
| TUBB4Btubulin beta 4B class IVb | Alltid | I 1 tilstand |
| TULP1TUB like protein 1 | Alltid | I 3 tilstander |
| UCHL1ubiquitin C-terminal hydrolase L1 | Alltid | I 1 tilstand |
| VWA8von Willebrand factor A domain containing 8 | Alltid | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Alltid | I 1 tilstand |
| ZEB1zinc finger E-box binding homeobox 1 | Alltid | I 4 tilstander |
| ZNF408zinc finger protein 408 | Alltid | I 4 tilstander |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| AGBL1AGBL carboxypeptidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| AIREautoimmune regulator | Svært ofte (80–99 %) | I 2 tilstander |
| ATOH7atonal bHLH transcription factor 7 | Svært ofte (80–99 %) | I 1 tilstand |
| COL8A2collagen type VIII alpha 2 chain | Svært ofte (80–99 %) | I 2 tilstander |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| DNMBPdynamin binding protein | Svært ofte (80–99 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Svært ofte (80–99 %) | I 1 tilstand |
| FZD4frizzled class receptor 4 | Svært ofte (80–99 %) | I 4 tilstander |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Svært ofte (80–99 %) | I 3 tilstander |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Svært ofte (80–99 %) | I 1 tilstand |
| RP1RP1 axonemal microtubule associated | Svært ofte (80–99 %) | I 2 tilstander |
| SAGS-antigen visual arrestin | Svært ofte (80–99 %) | I 2 tilstander |
| SAMD7sterile alpha motif domain containing 7 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC45A2solute carrier family 45 member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC4A11solute carrier family 4 member 11 | Svært ofte (80–99 %) | I 3 tilstander |
| TCF4transcription factor 4 | Svært ofte (80–99 %) | I 1 tilstand |
| UBAP1Lubiquitin associated protein 1 like | Svært ofte (80–99 %) | I 1 tilstand |
| ADGRV1adhesion G protein-coupled receptor V1 | Ofte (30–79 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Ofte (30–79 %) | I 1 tilstand |
| ASPHaspartate beta-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| ATXN7ataxin 7 | Ofte (30–79 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Ofte (30–79 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Ofte (30–79 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Ofte (30–79 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Ofte (30–79 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Ofte (30–79 %) | I 1 tilstand |
| CABP4calcium binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| CDH23cadherin related 23 | Ofte (30–79 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Ofte (30–79 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Ofte (30–79 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Ofte (30–79 %) | I 3 tilstander |
| CHP1calcineurin like EF-hand protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CLCN7Cl-/H+ antiporter 7 | Ofte (30–79 %) | I 1 tilstand |
| CLEC3BC-type lectin domain family 3 member B | Ofte (30–79 %) | I 1 tilstand |
| CTNNA1catenin alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Ofte (30–79 %) | I 1 tilstand |
| ESPNespin | Ofte (30–79 %) | I 1 tilstand |
| FZD5frizzled class receptor 5 | Ofte (30–79 %) | I 1 tilstand |
| GNAT2G protein subunit alpha transducin 2 | Ofte (30–79 %) | I 1 tilstand |
| GSNgelsolin | Ofte (30–79 %) | I 1 tilstand |
| GUCA1Aguanylate cyclase activator 1A | Ofte (30–79 %) | I 2 tilstander |
| H4C9H4 clustered histone 9 | Ofte (30–79 %) | I 1 tilstand |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Ofte (30–79 %) | I 2 tilstander |
| IFT172intraflagellar transport 172 | Ofte (30–79 %) | I 2 tilstander |
| IFT27intraflagellar transport 27 | Ofte (30–79 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Ofte (30–79 %) | I 1 tilstand |
| KIDINS220kinase D interacting substrate 220 | Ofte (30–79 %) | I 1 tilstand |
| KIZkizuna centrosomal protein | Ofte (30–79 %) | I 2 tilstander |
| LAMP2lysosome associated membrane protein 2 | Ofte (30–79 %) | I 1 tilstand |
| LCA5lebercilin LCA5 | Ofte (30–79 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Ofte (30–79 %) | I 3 tilstander |
| LYSTlysosomal trafficking regulator | Ofte (30–79 %) | I 2 tilstander |
| LZTFL1leucine zipper transcription factor like 1 | Ofte (30–79 %) | I 1 tilstand |
| MC1Rmelanocortin 1 receptor | Ofte (30–79 %) | I 2 tilstander |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Ofte (30–79 %) | I 3 tilstander |
| MKKSMKKS centrosomal shuttling protein | Ofte (30–79 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Ofte (30–79 %) | I 1 tilstand |
| MYO7Amyosin VIIA | Ofte (30–79 %) | I 2 tilstander |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Ofte (30–79 %) | I 1 tilstand |
| NHSNHS actin remodeling regulator | Ofte (30–79 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Ofte (30–79 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Ofte (30–79 %) | I 2 tilstander |
| OTX2orthodenticle homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| PCDH15protocadherin related 15 | Ofte (30–79 %) | I 1 tilstand |
| PDZD7PDZ domain containing 7 | Ofte (30–79 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Ofte (30–79 %) | I 1 tilstand |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Ofte (30–79 %) | I 2 tilstander |
| POU3F4POU class 3 homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Ofte (30–79 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Ofte (30–79 %) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ofte (30–79 %) | I 1 tilstand |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Ofte (30–79 %) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Ofte (30–79 %) | I 1 tilstand |
| SELENOIselenoprotein I | Ofte (30–79 %) | I 2 tilstander |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Ofte (30–79 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Ofte (30–79 %) | I 2 tilstander |
| TACSTD2tumor associated calcium signal transducer 2 | Ofte (30–79 %) | I 2 tilstander |
| TRIM32tripartite motif containing 32 | Ofte (30–79 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Ofte (30–79 %) | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| TSEN34tRNA splicing endonuclease subunit 34 | Ofte (30–79 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Ofte (30–79 %) | I 1 tilstand |
| TSPAN12tetraspanin 12 | Ofte (30–79 %) | I 2 tilstander |
| UNC119unc-119 lipid binding chaperone | Ofte (30–79 %) | I 1 tilstand |
| USH1CUSH1 protein network component harmonin | Ofte (30–79 %) | I 1 tilstand |
| USH1GUSH1 protein network component sans | Ofte (30–79 %) | I 1 tilstand |
| USH2Ausherin | Ofte (30–79 %) | I 2 tilstander |
| VCANversican | Ofte (30–79 %) | I 1 tilstand |
| VSX1visual system homeobox 1 | Ofte (30–79 %) | I 2 tilstander |
| WDPCPWD repeat containing planar cell polarity effector | Ofte (30–79 %) | I 1 tilstand |
| WHRNwhirlin | Ofte (30–79 %) | I 1 tilstand |
| ABCC6ATP binding cassette subfamily C member 6 | Noen ganger (5–29 %) | I 2 tilstander |
| ABCD1ATP binding cassette subfamily D member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AGBL5AGBL carboxypeptidase 5 | Noen ganger (5–29 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ANKRD55ankyrin repeat domain 55 | Noen ganger (5–29 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ARMC9armadillo repeat containing 9 | Noen ganger (5–29 %) | I 1 tilstand |
| ARSAarylsulfatase A | Noen ganger (5–29 %) | I 3 tilstander |
| BEST1bestrophin 1 | Noen ganger (5–29 %) | I 4 tilstander |
| CA4carbonic anhydrase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| CD247CD247 molecule | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Noen ganger (5–29 %) | I 1 tilstand |
| CDHR1cadherin related family member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CERKLCERK like autophagy regulator | Noen ganger (5–29 %) | I 1 tilstand |
| CFAP20cilia and flagella associated protein 20 | Noen ganger (5–29 %) | I 1 tilstand |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| COQ8Bcoenzyme Q8B | Noen ganger (5–29 %) | I 1 tilstand |
| CRLS1cardiolipin synthase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DHX38DEAH-box helicase 38 | Noen ganger (5–29 %) | I 1 tilstand |
| DLDdihydrolipoamide dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| EYSEGF-like photoreceptor maintenance factor | Noen ganger (5–29 %) | I 1 tilstand |
| FAM161AFAM161 centrosomal protein A | Noen ganger (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FSCN2fascin actin-bundling protein 2, retinal | Noen ganger (5–29 %) | I 1 tilstand |
| FXNfrataxin | Noen ganger (5–29 %) | I 2 tilstander |
| GPR179G protein-coupled receptor 179 | Noen ganger (5–29 %) | I 1 tilstand |
| GRHL2grainyhead like transcription factor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| GUCA1Bguanylate cyclase activator 1B | Noen ganger (5–29 %) | I 1 tilstand |
| HKDC1hexokinase domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Noen ganger (5–29 %) | I 2 tilstander |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT43intraflagellar transport 43 | Noen ganger (5–29 %) | I 2 tilstander |
| IFT88intraflagellar transport 88 | Noen ganger (5–29 %) | I 1 tilstand |
| IL2RAinterleukin 2 receptor subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| IL2RBinterleukin 2 receptor subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KIAA1549KIAA1549 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF1Ckinesin family member 1C | Noen ganger (5–29 %) | I 2 tilstander |
| LTBP2latent transforming growth factor beta binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Noen ganger (5–29 %) | I 1 tilstand |
| MERTKMER proto-oncogene, tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| MYOCmyocilin | Noen ganger (5–29 %) | I 1 tilstand |
| NEK2NIMA related kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Noen ganger (5–29 %) | I 1 tilstand |
| OPN1SWopsin 1, short wave sensitive | Noen ganger (5–29 %) | I 1 tilstand |
| OVOL2ovo like zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PCAREphotoreceptor cilium actin regulator | Noen ganger (5–29 %) | I 1 tilstand |
| PDE6Aphosphodiesterase 6A | Noen ganger (5–29 %) | I 1 tilstand |
| PDE6Bphosphodiesterase 6B | Noen ganger (5–29 %) | I 1 tilstand |
| PRCDphotoreceptor disc component | Noen ganger (5–29 %) | I 1 tilstand |
| PRIMPOLprimase and DNA directed polymerase | Noen ganger (5–29 %) | I 1 tilstand |
| PRPF3pre-mRNA processing factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PRPF31pre-mRNA processing factor 31 | Noen ganger (5–29 %) | I 2 tilstander |
| PRPF8pre-mRNA processing factor 8 | Noen ganger (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Noen ganger (5–29 %) | I 3 tilstander |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Noen ganger (5–29 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Noen ganger (5–29 %) | I 2 tilstander |
| RGRretinal G protein coupled receptor | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH1ribonuclease H1 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU6-1RNA, U6 small nuclear 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU6-2RNA, U6 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU6-8RNA, U6 small nuclear 8 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU6-9RNA, U6 small nuclear 9 | Noen ganger (5–29 %) | I 1 tilstand |
| ROM1retinal outer segment membrane protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| RP9RP9 pre-mRNA splicing factor | Noen ganger (5–29 %) | I 1 tilstand |
| SAXO6stabilizer of axonemal microtubules 6 | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Noen ganger (5–29 %) | I 2 tilstander |
| SLC1A3solute carrier family 1 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Noen ganger (5–29 %) | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TEFMtranscription elongation factor, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| TEKTEK receptor tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Noen ganger (5–29 %) | I 1 tilstand |
| WASF1WASP family member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF513zinc finger protein 513 | Noen ganger (5–29 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Sjelden (1–4%) | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Ikke registrert | I 1 tilstand |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Ikke registrert | I 1 tilstand |
| CLCC1chloride channel CLIC like 1 | Ikke registrert | I 1 tilstand |
| CRYBB1crystallin beta B1 | Ikke registrert | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Ikke registrert | I 1 tilstand |
| DRAM2DNA damage regulated autophagy modulator 2 | Ikke registrert | I 1 tilstand |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Ikke registrert | I 1 tilstand |
| ELOVL1ELOVL fatty acid elongase 1 | Ikke registrert | I 1 tilstand |
| FBN2fibrillin 2 | Ikke registrert | I 1 tilstand |
| FRMD7FERM domain containing 7 | Ikke registrert | I 1 tilstand |
| HK1hexokinase 1 | Ikke registrert | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Ikke registrert | I 1 tilstand |
| KCNV2potassium voltage-gated channel modifier subfamily V member 2 | Ikke registrert | I 1 tilstand |
| KIF11kinesin family member 11 | Ikke registrert | I 1 tilstand |
| KRT12keratin 12 | Ikke registrert | I 1 tilstand |
| LRP6LDL receptor related protein 6 | Ikke registrert | I 1 tilstand |
| LRPAP1LDL receptor related protein associated protein 1 | Ikke registrert | I 1 tilstand |
| MAPKAPK3MAPK activated protein kinase 3 | Ikke registrert | I 1 tilstand |
| MIR184microRNA 184 | Ikke registrert | I 1 tilstand |
| MIR204microRNA 204 | Ikke registrert | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Ikke registrert | I 1 tilstand |
| MMP19matrix metallopeptidase 19 | Ikke registrert | I 1 tilstand |
| NBASNBAS subunit of NRZ tethering complex | Ikke registrert | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ikke registrert | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ikke registrert | I 2 tilstander |
| OPN1LWopsin 1, long wave sensitive | Ikke registrert | I 1 tilstand |
| OPN1MWopsin 1, medium wave sensitive | Ikke registrert | I 1 tilstand |
| PITPNM3PITPNM family member 3 | Ikke registrert | I 1 tilstand |
| POMKprotein O-mannose kinase | Ikke registrert | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Ikke registrert | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ikke registrert | I 1 tilstand |
| RCBTB1RCC1 and BTB domain containing protein 1 | Ikke registrert | I 1 tilstand |
| RHOAras homolog family member A | Ikke registrert | I 1 tilstand |
| SCYL1SCY1 like pseudokinase 1 | Ikke registrert | I 1 tilstand |
| SH3BP2SH3 domain binding protein 2 | Ikke registrert | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Ikke registrert | I 1 tilstand |
| SSBP1single stranded DNA binding protein 1 | Ikke registrert | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Ikke registrert | I 1 tilstand |
| TMEM126Atransmembrane protein 126A | Ikke registrert | I 1 tilstand |
| TUBGCP4tubulin gamma complex component 4 | Ikke registrert | I 1 tilstand |
| TYRtyrosinase | Ikke registrert | I 1 tilstand |
| UBIAD1UbiA prenyltransferase domain containing 1 | Ikke registrert | I 1 tilstand |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Ikke registrert | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Ikke registrert | I 1 tilstand |
| WDR19WD repeat domain 19 | Ikke registrert | I 1 tilstand |
| ZFYVE26zinc finger FYVE-type containing 26 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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