Træk
Decreased clarity of vision
Klinisk navn: Reduced visual acuity
Resumé
- Også kaldet
- Decreased central vision, Decreased visual acuity, Poor visual acuity
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
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Bestil min Genome Test362 gener knyttet til Decreased clarity of vision
Ændringer i disse gener forårsager sjældne tilstande, hvor Decreased clarity of vision ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABCA4ATP binding cassette subfamily A member 4 | Altid | I 4 tilstande |
| ACO2aconitase 2 | Altid | I 1 tilstand |
| AHRaryl hydrocarbon receptor | Altid | I 2 tilstande |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Altid | I 2 tilstande |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Altid | I 1 tilstand |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Altid | I 2 tilstande |
| ARL2ARF like GTPase 2 | Altid | I 1 tilstand |
| ARL2BPARF like GTPase 2 binding protein | Altid | I 2 tilstande |
| ARL3ARF like GTPase 3 | Altid | I 2 tilstande |
| ARL6ARF like GTPase 6 | Altid | I 3 tilstande |
| ATF6activating transcription factor 6 | Altid | I 2 tilstande |
| BBS1Bardet-Biedl syndrome 1 | Altid | I 3 tilstande |
| BBS2Bardet-Biedl syndrome 2 | Altid | I 3 tilstande |
| BBS5Bardet-Biedl syndrome 5 | Altid | I 2 tilstande |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Altid | I 1 tilstand |
| BLOC1S5biogenesis of lysosomal organelles complex 1 subunit 5 | Altid | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Altid | I 1 tilstand |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Altid | I 3 tilstande |
| CC2D2Acoiled-coil and C2 domain containing 2A | Altid | I 2 tilstande |
| CCDC28Bcoiled-coil domain containing 28B | Altid | I 1 tilstand |
| CDH3cadherin 3 | Altid | I 1 tilstand |
| CEP250centrosomal protein 250 | Altid | I 1 tilstand |
| CEP290centrosomal protein 290 | Altid | I 3 tilstande |
| CHRDL1chordin like 1 | Altid | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Altid | I 2 tilstande |
| CLRN1clarin 1 | Altid | I 2 tilstande |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Altid | I 2 tilstande |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Altid | I 2 tilstande |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Altid | I 2 tilstande |
| CRB1crumbs cell polarity complex component 1 | Altid | I 3 tilstande |
| CRXcone-rod homeobox | Altid | I 2 tilstande |
| DCTdopachrome tautomerase | Altid | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Altid | I 2 tilstande |
| DNA2DNA replication helicase/nuclease 2 | Altid | I 1 tilstand |
| DTNBP1dystrobrevin binding protein 1 | Altid | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Altid | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Altid | I 2 tilstande |
| EPG5ectopic P-granules 5 autophagy tethering factor | Altid | I 1 tilstand |
| FBN1fibrillin 1 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
Vis 322 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| FOXE3forkhead box E3 | Altid | I 1 tilstand |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Altid | I 2 tilstande |
| GPR143G protein-coupled receptor 143 | Altid | I 2 tilstande |
| GUCY2Dguanylate cyclase 2D, retinal | Altid | I 3 tilstande |
| HPS3HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 | Altid | I 1 tilstand |
| HPS4HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 | Altid | I 1 tilstand |
| HPS5HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 | Altid | I 1 tilstand |
| HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | Altid | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Altid | I 3 tilstande |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Altid | I 3 tilstande |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| ITM2Bintegral membrane protein 2B | Altid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 1 tilstand |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Altid | I 2 tilstande |
| KERAkeratocan | Altid | I 1 tilstand |
| KLC4kinesin light chain 4 | Altid | I 1 tilstand |
| KLHL7kelch like family member 7 | Altid | I 2 tilstande |
| LAMB2laminin subunit beta 2 | Altid | I 1 tilstand |
| LIM2lens intrinsic membrane protein 2 | Altid | I 1 tilstand |
| LRIT3leucine rich repeat, Ig-like and transmembrane domains 3 | Altid | I 1 tilstand |
| LRMDAleucine rich melanocyte differentiation associated | Altid | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Altid | I 5 tilstande |
| MAGmyelin associated glycoprotein | Altid | I 1 tilstand |
| MAKmale germ cell associated kinase | Altid | I 2 tilstande |
| MARK3microtubule affinity regulating kinase 3 | Altid | I 1 tilstand |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Altid | I 1 tilstand |
| MFRPmembrane frizzled-related protein | Altid | I 2 tilstande |
| MFSD8major facilitator superfamily domain containing 8 | Altid | I 1 tilstand |
| MIEF1mitochondrial elongation factor 1 | Altid | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Altid | I 2 tilstande |
| NDPnorrin cystine knot growth factor NDP | Altid | I 4 tilstande |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Altid | I 1 tilstand |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Altid | I 2 tilstande |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Altid | I 2 tilstande |
| NRLneural retina leucine zipper | Altid | I 3 tilstande |
| PANK4pantothenate kinase 4 (inactive) | Altid | I 1 tilstand |
| PAX2paired box 2 | Altid | I 1 tilstand |
| PAX6paired box 6 | Altid | I 5 tilstande |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Altid | I 1 tilstand |
| PDE6Cphosphodiesterase 6C | Altid | I 2 tilstande |
| PDE6Gphosphodiesterase 6G | Altid | I 2 tilstande |
| PDE6Hphosphodiesterase 6H | Altid | I 2 tilstande |
| PDXKpyridoxal kinase | Altid | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Altid | I 1 tilstand |
| POC1BPOC1 centriolar protein B | Altid | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Altid | I 2 tilstande |
| PROM1prominin 1 | Altid | I 5 tilstande |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Altid | I 2 tilstande |
| PRPF6pre-mRNA processing factor 6 | Altid | I 2 tilstande |
| PRPH2peripherin 2 | Altid | I 6 tilstande |
| PXDNperoxidasin | Altid | I 1 tilstand |
| RAB28RAB28, member RAS oncogene family | Altid | I 1 tilstand |
| RAB3ARAB3A, member RAS oncogene family | Altid | I 1 tilstand |
| RAX2retina and anterior neural fold homeobox 2 | Altid | I 1 tilstand |
| RBP3retinol binding protein 3 | Altid | I 2 tilstande |
| RBP4retinol binding protein 4 | Altid | I 1 tilstand |
| REEP6receptor accessory protein 6 | Altid | I 2 tilstande |
| RFT1RFT1 glycolipid translocator homolog | Altid | I 1 tilstand |
| RGS9regulator of G protein signaling 9 | Altid | I 1 tilstand |
| RGS9BPregulator of G protein signaling 9 binding protein | Altid | I 1 tilstand |
| RHOrhodopsin | Altid | I 2 tilstande |
| RIMS2regulating synaptic membrane exocytosis 2 | Altid | I 1 tilstand |
| RLBP1retinaldehyde binding protein 1 | Altid | I 2 tilstande |
| RP1L1RP1 like 1 | Altid | I 2 tilstande |
| RPE65retinoid isomerohydrolase RPE65 | Altid | I 3 tilstande |
| RPGRretinitis pigmentosa GTPase regulator | Altid | I 5 tilstande |
| RPGRIP1RPGR interacting protein 1 | Altid | I 2 tilstande |
| RTN4IP1reticulon 4 interacting protein 1 | Altid | I 1 tilstand |
| SALL2spalt like transcription factor 2 | Altid | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Altid | I 3 tilstande |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Altid | I 2 tilstande |
| SLC24A5solute carrier family 24 member 5 | Altid | I 2 tilstande |
| SLC38A8solute carrier family 38 member 8 | Altid | I 1 tilstand |
| SLC4A2solute carrier family 4 member 2 | Altid | I 1 tilstand |
| SLC7A14solute carrier family 7 member 14 | Altid | I 2 tilstande |
| TBC1D32TBC1 domain family member 32 | Altid | I 2 tilstande |
| TENM3teneurin transmembrane protein 3 | Altid | I 1 tilstand |
| TGFBItransforming growth factor beta induced | Altid | I 6 tilstande |
| TLCD3BTLC domain containing 3B | Altid | I 1 tilstand |
| TMEM216transmembrane protein 216 | Altid | I 2 tilstande |
| TMEM98transmembrane protein 98 | Altid | I 1 tilstand |
| TOMM7translocase of outer mitochondrial membrane 7 | Altid | I 1 tilstand |
| TRIM44TRIM family member 44 | Altid | I 2 tilstande |
| TRPM1transient receptor potential cation channel subfamily M member 1 | Altid | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Altid | I 3 tilstande |
| TTLL5tubulin tyrosine ligase like 5 | Altid | I 1 tilstand |
| TUBTUB bipartite transcription factor | Altid | I 2 tilstande |
| TUBA3Dtubulin alpha 3d | Altid | I 1 tilstand |
| TUBB4Btubulin beta 4B class IVb | Altid | I 1 tilstand |
| TULP1TUB like protein 1 | Altid | I 3 tilstande |
| UCHL1ubiquitin C-terminal hydrolase L1 | Altid | I 1 tilstand |
| VWA8von Willebrand factor A domain containing 8 | Altid | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Altid | I 1 tilstand |
| ZEB1zinc finger E-box binding homeobox 1 | Altid | I 4 tilstande |
| ZNF408zinc finger protein 408 | Altid | I 4 tilstande |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| AGBL1AGBL carboxypeptidase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| AIREautoimmune regulator | Meget ofte (80–99 %) | I 2 tilstande |
| ATOH7atonal bHLH transcription factor 7 | Meget ofte (80–99 %) | I 1 tilstand |
| COL8A2collagen type VIII alpha 2 chain | Meget ofte (80–99 %) | I 2 tilstande |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| DNMBPdynamin binding protein | Meget ofte (80–99 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Meget ofte (80–99 %) | I 1 tilstand |
| FZD4frizzled class receptor 4 | Meget ofte (80–99 %) | I 4 tilstande |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Meget ofte (80–99 %) | I 3 tilstande |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Meget ofte (80–99 %) | I 1 tilstand |
| RP1RP1 axonemal microtubule associated | Meget ofte (80–99 %) | I 2 tilstande |
| SAGS-antigen visual arrestin | Meget ofte (80–99 %) | I 2 tilstande |
| SAMD7sterile alpha motif domain containing 7 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC45A2solute carrier family 45 member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC4A11solute carrier family 4 member 11 | Meget ofte (80–99 %) | I 3 tilstande |
| TCF4transcription factor 4 | Meget ofte (80–99 %) | I 1 tilstand |
| UBAP1Lubiquitin associated protein 1 like | Meget 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 tilstande |
| 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 tilstande |
| H4C9H4 clustered histone 9 | Ofte (30–79 %) | I 1 tilstand |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Ofte (30–79 %) | I 2 tilstande |
| IFT172intraflagellar transport 172 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| LYSTlysosomal trafficking regulator | Ofte (30–79 %) | I 2 tilstande |
| LZTFL1leucine zipper transcription factor like 1 | Ofte (30–79 %) | I 1 tilstand |
| MC1Rmelanocortin 1 receptor | Ofte (30–79 %) | I 2 tilstande |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Ofte (30–79 %) | I 3 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Ofte (30–79 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Ofte (30–79 %) | I 2 tilstande |
| TACSTD2tumor associated calcium signal transducer 2 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| VCANversican | Ofte (30–79 %) | I 1 tilstand |
| VSX1visual system homeobox 1 | Ofte (30–79 %) | I 2 tilstande |
| 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 | Nogle gange (5–29 %) | I 2 tilstande |
| ABCD1ATP binding cassette subfamily D member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AGBL5AGBL carboxypeptidase 5 | Nogle gange (5–29 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ANKRD55ankyrin repeat domain 55 | Nogle gange (5–29 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ARMC9armadillo repeat containing 9 | Nogle gange (5–29 %) | I 1 tilstand |
| ARSAarylsulfatase A | Nogle gange (5–29 %) | I 3 tilstande |
| BEST1bestrophin 1 | Nogle gange (5–29 %) | I 4 tilstande |
| CA4carbonic anhydrase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| CD247CD247 molecule | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Nogle gange (5–29 %) | I 1 tilstand |
| CDHR1cadherin related family member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CERKLCERK like autophagy regulator | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP20cilia and flagella associated protein 20 | Nogle gange (5–29 %) | I 1 tilstand |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| COQ8Bcoenzyme Q8B | Nogle gange (5–29 %) | I 1 tilstand |
| CRLS1cardiolipin synthase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DHX38DEAH-box helicase 38 | Nogle gange (5–29 %) | I 1 tilstand |
| DLDdihydrolipoamide dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| EYSEGF-like photoreceptor maintenance factor | Nogle gange (5–29 %) | I 1 tilstand |
| FAM161AFAM161 centrosomal protein A | Nogle gange (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FSCN2fascin actin-bundling protein 2, retinal | Nogle gange (5–29 %) | I 1 tilstand |
| FXNfrataxin | Nogle gange (5–29 %) | I 2 tilstande |
| GPR179G protein-coupled receptor 179 | Nogle gange (5–29 %) | I 1 tilstand |
| GRHL2grainyhead like transcription factor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| GUCA1Bguanylate cyclase activator 1B | Nogle gange (5–29 %) | I 1 tilstand |
| HKDC1hexokinase domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Nogle gange (5–29 %) | I 2 tilstande |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT43intraflagellar transport 43 | Nogle gange (5–29 %) | I 2 tilstande |
| IFT88intraflagellar transport 88 | Nogle gange (5–29 %) | I 1 tilstand |
| IL2RAinterleukin 2 receptor subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| IL2RBinterleukin 2 receptor subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA1549KIAA1549 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF1Ckinesin family member 1C | Nogle gange (5–29 %) | I 2 tilstande |
| LTBP2latent transforming growth factor beta binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Nogle gange (5–29 %) | I 1 tilstand |
| MERTKMER proto-oncogene, tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| MYOCmyocilin | Nogle gange (5–29 %) | I 1 tilstand |
| NEK2NIMA related kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Nogle gange (5–29 %) | I 1 tilstand |
| OPN1SWopsin 1, short wave sensitive | Nogle gange (5–29 %) | I 1 tilstand |
| OVOL2ovo like zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PCAREphotoreceptor cilium actin regulator | Nogle gange (5–29 %) | I 1 tilstand |
| PDE6Aphosphodiesterase 6A | Nogle gange (5–29 %) | I 1 tilstand |
| PDE6Bphosphodiesterase 6B | Nogle gange (5–29 %) | I 1 tilstand |
| PRCDphotoreceptor disc component | Nogle gange (5–29 %) | I 1 tilstand |
| PRIMPOLprimase and DNA directed polymerase | Nogle gange (5–29 %) | I 1 tilstand |
| PRPF3pre-mRNA processing factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PRPF31pre-mRNA processing factor 31 | Nogle gange (5–29 %) | I 2 tilstande |
| PRPF8pre-mRNA processing factor 8 | Nogle gange (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Nogle gange (5–29 %) | I 3 tilstande |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Nogle gange (5–29 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Nogle gange (5–29 %) | I 2 tilstande |
| RGRretinal G protein coupled receptor | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH1ribonuclease H1 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU6-1RNA, U6 small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU6-2RNA, U6 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU6-8RNA, U6 small nuclear 8 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU6-9RNA, U6 small nuclear 9 | Nogle gange (5–29 %) | I 1 tilstand |
| ROM1retinal outer segment membrane protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| RP9RP9 pre-mRNA splicing factor | Nogle gange (5–29 %) | I 1 tilstand |
| SAXO6stabilizer of axonemal microtubules 6 | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Nogle gange (5–29 %) | I 2 tilstande |
| SLC1A3solute carrier family 1 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Nogle gange (5–29 %) | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TEFMtranscription elongation factor, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| TEKTEK receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Nogle gange (5–29 %) | I 1 tilstand |
| WASF1WASP family member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF513zinc finger protein 513 | Nogle gange (5–29 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Sjældent (1–4%) | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Ikke registreret | I 1 tilstand |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Ikke registreret | I 1 tilstand |
| CLCC1chloride channel CLIC like 1 | Ikke registreret | I 1 tilstand |
| CRYBB1crystallin beta B1 | Ikke registreret | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Ikke registreret | I 1 tilstand |
| DRAM2DNA damage regulated autophagy modulator 2 | Ikke registreret | I 1 tilstand |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Ikke registreret | I 1 tilstand |
| ELOVL1ELOVL fatty acid elongase 1 | Ikke registreret | I 1 tilstand |
| FBN2fibrillin 2 | Ikke registreret | I 1 tilstand |
| FRMD7FERM domain containing 7 | Ikke registreret | I 1 tilstand |
| HK1hexokinase 1 | Ikke registreret | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Ikke registreret | I 1 tilstand |
| KCNV2potassium voltage-gated channel modifier subfamily V member 2 | Ikke registreret | I 1 tilstand |
| KIF11kinesin family member 11 | Ikke registreret | I 1 tilstand |
| KRT12keratin 12 | Ikke registreret | I 1 tilstand |
| LRP6LDL receptor related protein 6 | Ikke registreret | I 1 tilstand |
| LRPAP1LDL receptor related protein associated protein 1 | Ikke registreret | I 1 tilstand |
| MAPKAPK3MAPK activated protein kinase 3 | Ikke registreret | I 1 tilstand |
| MIR184microRNA 184 | Ikke registreret | I 1 tilstand |
| MIR204microRNA 204 | Ikke registreret | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Ikke registreret | I 1 tilstand |
| MMP19matrix metallopeptidase 19 | Ikke registreret | I 1 tilstand |
| NBASNBAS subunit of NRZ tethering complex | Ikke registreret | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ikke registreret | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ikke registreret | I 2 tilstande |
| OPN1LWopsin 1, long wave sensitive | Ikke registreret | I 1 tilstand |
| OPN1MWopsin 1, medium wave sensitive | Ikke registreret | I 1 tilstand |
| PITPNM3PITPNM family member 3 | Ikke registreret | I 1 tilstand |
| POMKprotein O-mannose kinase | Ikke registreret | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Ikke registreret | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ikke registreret | I 1 tilstand |
| RCBTB1RCC1 and BTB domain containing protein 1 | Ikke registreret | I 1 tilstand |
| RHOAras homolog family member A | Ikke registreret | I 1 tilstand |
| SCYL1SCY1 like pseudokinase 1 | Ikke registreret | I 1 tilstand |
| SH3BP2SH3 domain binding protein 2 | Ikke registreret | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Ikke registreret | I 1 tilstand |
| SSBP1single stranded DNA binding protein 1 | Ikke registreret | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Ikke registreret | I 1 tilstand |
| TMEM126Atransmembrane protein 126A | Ikke registreret | I 1 tilstand |
| TUBGCP4tubulin gamma complex component 4 | Ikke registreret | I 1 tilstand |
| TYRtyrosinase | Ikke registreret | I 1 tilstand |
| UBIAD1UbiA prenyltransferase domain containing 1 | Ikke registreret | I 1 tilstand |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Ikke registreret | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Ikke registreret | I 1 tilstand |
| WDR19WD repeat domain 19 | Ikke registreret | I 1 tilstand |
| ZFYVE26zinc finger FYVE-type containing 26 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger