Egenskap
Abnormal color vision
Klinisk navn: Color vision defect
An anomaly in the ability to discriminate between or recognize colors.
Sammendrag
- Også kalt
- Abnormality of color vision, Color vision defect, severe, Color vision defects, Abnormal colour vision, Abnormality of colour vision, Colour vision defect, Disturbed color vision, Disturbed colour vision
- Kroppssystem
- Abnormality of the eye
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test213 gener knyttet til Abnormal color vision
Endringer i disse genene forårsaker sjeldne tilstander der Abnormal color 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 |
| CRXcone-rod homeobox | Alltid | I 3 tilstander |
| PDXKpyridoxal kinase | Alltid | I 1 tilstand |
| RLBP1retinaldehyde binding protein 1 | Alltid | I 3 tilstander |
| RPGRIP1RPGR interacting protein 1 | Alltid | I 3 tilstander |
| RTN4IP1reticulon 4 interacting protein 1 | Alltid | I 1 tilstand |
| TULP1TUB like protein 1 | Alltid | I 2 tilstander |
| UBAP1Lubiquitin associated protein 1 like | Alltid | I 2 tilstander |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ATF6activating transcription factor 6 | Svært ofte (80–99 %) | I 2 tilstander |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Svært ofte (80–99 %) | I 3 tilstander |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Svært ofte (80–99 %) | I 2 tilstander |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Svært ofte (80–99 %) | I 3 tilstander |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Svært ofte (80–99 %) | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Svært ofte (80–99 %) | I 1 tilstand |
| GNAT2G protein subunit alpha transducin 2 | Svært ofte (80–99 %) | I 2 tilstander |
| GUCA1Aguanylate cyclase activator 1A | Svært ofte (80–99 %) | I 2 tilstander |
| PDE6Cphosphodiesterase 6C | Svært ofte (80–99 %) | I 2 tilstander |
| PDE6Hphosphodiesterase 6H | Svært ofte (80–99 %) | I 1 tilstand |
| PROM1prominin 1 | Svært ofte (80–99 %) | I 4 tilstander |
| PRPH2peripherin 2 | Svært ofte (80–99 %) | I 5 tilstander |
| RPGRretinitis pigmentosa GTPase regulator | Svært ofte (80–99 %) | I 5 tilstander |
| ADAM9ADAM metallopeptidase domain 9 | Ofte (30–79 %) | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Ofte (30–79 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Ofte (30–79 %) | I 2 tilstander |
| ALMS1ALMS1 centrosome and basal body associated protein | Ofte (30–79 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Ofte (30–79 %) | I 2 tilstander |
| BBIP1BBSome interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Ofte (30–79 %) | I 2 tilstander |
| BBS10Bardet-Biedl syndrome 10 | Ofte (30–79 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Ofte (30–79 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Ofte (30–79 %) | I 2 tilstander |
| BBS4Bardet-Biedl syndrome 4 | Ofte (30–79 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | 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 |
| BEST1bestrophin 1 | Ofte (30–79 %) | I 4 tilstander |
| CABP4calcium binding protein 4 | Ofte (30–79 %) | I 2 tilstander |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Ofte (30–79 %) | I 1 tilstand |
| CDHR1cadherin related family member 1 | Ofte (30–79 %) | I 3 tilstander |
Vis 173 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| CEP19centrosomal protein 19 | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | 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 |
| DNM1Ldynamin 1L | Ofte (30–79 %) | I 1 tilstand |
| DRAM2DNA damage regulated autophagy modulator 2 | Ofte (30–79 %) | I 1 tilstand |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Ofte (30–79 %) | I 2 tilstander |
| GUCY2Dguanylate cyclase 2D, retinal | Ofte (30–79 %) | I 1 tilstand |
| 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 |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Ofte (30–79 %) | I 2 tilstander |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Ofte (30–79 %) | I 2 tilstander |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Ofte (30–79 %) | I 1 tilstand |
| LCA5lebercilin LCA5 | Ofte (30–79 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Ofte (30–79 %) | I 2 tilstander |
| LZTFL1leucine zipper transcription factor like 1 | Ofte (30–79 %) | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Ofte (30–79 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Ofte (30–79 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Ofte (30–79 %) | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Ofte (30–79 %) | I 2 tilstander |
| NPHP1nephrocystin 1 | Ofte (30–79 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 2 tilstander |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ofte (30–79 %) | I 1 tilstand |
| OPN1LWopsin 1, long wave sensitive | Ofte (30–79 %) | I 2 tilstander |
| OPN1MWopsin 1, medium wave sensitive | Ofte (30–79 %) | I 2 tilstander |
| OTX2orthodenticle homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| PITPNM3PITPNM family member 3 | Ofte (30–79 %) | I 2 tilstander |
| POC1BPOC1 centriolar protein B | Ofte (30–79 %) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Ofte (30–79 %) | I 1 tilstand |
| RAB28RAB28, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RAX2retina and anterior neural fold homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| RIMS1regulating synaptic membrane exocytosis 1 | Ofte (30–79 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Ofte (30–79 %) | I 2 tilstander |
| SCAPERS-phase cyclin A associated protein in the ER | Ofte (30–79 %) | I 2 tilstander |
| SCLT1sodium channel and clathrin linker 1 | Ofte (30–79 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Ofte (30–79 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Ofte (30–79 %) | I 2 tilstander |
| SPATA7spermatogenesis associated 7 | Ofte (30–79 %) | I 2 tilstander |
| TLCD3BTLC domain containing 3B | Ofte (30–79 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Ofte (30–79 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Ofte (30–79 %) | I 2 tilstander |
| TTLL5tubulin tyrosine ligase like 5 | Ofte (30–79 %) | I 1 tilstand |
| UNC119unc-119 lipid binding chaperone | Ofte (30–79 %) | I 2 tilstander |
| WDPCPWD repeat containing planar cell polarity effector | Ofte (30–79 %) | I 1 tilstand |
| ADGRV1adhesion G protein-coupled receptor V1 | 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 |
| AHRaryl hydrocarbon receptor | Noen ganger (5–29 %) | I 1 tilstand |
| ANOS1anosmin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Noen ganger (5–29 %) | I 1 tilstand |
| ARL2BPARF like GTPase 2 binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CA4carbonic anhydrase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC141coiled-coil domain containing 141 | 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 |
| CHD7chromodomain helicase DNA binding protein 7 | Noen ganger (5–29 %) | I 1 tilstand |
| CHMCHM Rab escort protein | Noen ganger (5–29 %) | I 1 tilstand |
| CLRN1clarin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | 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 |
| CRB1crumbs cell polarity complex component 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DHX38DEAH-box helicase 38 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Noen ganger (5–29 %) | I 1 tilstand |
| DUSP6dual specificity phosphatase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| EMX2empty spiracles homeobox 2 | 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 |
| FEZF1FEZ family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF17fibroblast growth factor 17 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FSCN2fascin actin-bundling protein 2, retinal | Noen ganger (5–29 %) | I 1 tilstand |
| GUCA1Bguanylate cyclase activator 1B | Noen ganger (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| HKDC1hexokinase domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| 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 1 tilstand |
| IFT88intraflagellar transport 88 | Noen ganger (5–29 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Noen ganger (5–29 %) | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KIAA1549KIAA1549 | Noen ganger (5–29 %) | I 1 tilstand |
| KIZkizuna centrosomal protein | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL7kelch like family member 7 | Noen ganger (5–29 %) | I 1 tilstand |
| LRRK2leucine rich repeat kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAKmale germ cell associated kinase | Noen ganger (5–29 %) | I 1 tilstand |
| MERTKMER proto-oncogene, tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MYO7Amyosin VIIA | Noen ganger (5–29 %) | I 1 tilstand |
| NDNFneuron derived neurotrophic factor | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Noen ganger (5–29 %) | I 1 tilstand |
| NEK2NIMA related kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NRLneural retina leucine zipper | Noen ganger (5–29 %) | I 1 tilstand |
| PARK7Parkinsonism associated deglycase | 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 |
| PDE6Gphosphodiesterase 6G | Noen ganger (5–29 %) | I 1 tilstand |
| PDZD7PDZ domain containing 7 | Noen ganger (5–29 %) | I 1 tilstand |
| PINK1PTEN induced kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PODXLpodocalyxin like | Noen ganger (5–29 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Noen ganger (5–29 %) | I 1 tilstand |
| PRCDphotoreceptor disc component | Noen ganger (5–29 %) | I 1 tilstand |
| PRKNparkin RBR E3 ubiquitin protein ligase | Noen ganger (5–29 %) | I 1 tilstand |
| PROK2prokineticin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | 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 1 tilstand |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Noen ganger (5–29 %) | I 1 tilstand |
| PRPF6pre-mRNA processing factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| PRPF8pre-mRNA processing factor 8 | Noen ganger (5–29 %) | I 1 tilstand |
| RBP3retinol binding protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Noen ganger (5–29 %) | I 1 tilstand |
| REEP6receptor accessory protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| RGRretinal G protein coupled receptor | Noen ganger (5–29 %) | I 1 tilstand |
| RHOrhodopsin | 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 |
| RP1RP1 axonemal microtubule associated | Noen ganger (5–29 %) | I 1 tilstand |
| RP1L1RP1 like 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 |
| SAGS-antigen visual arrestin | Noen ganger (5–29 %) | I 1 tilstand |
| SAXO6stabilizer of axonemal microtubules 6 | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA3Asemaphorin 3A | Noen ganger (5–29 %) | I 1 tilstand |
| SLC7A14solute carrier family 7 member 14 | Noen ganger (5–29 %) | I 1 tilstand |
| SNCAsynuclein alpha | Noen ganger (5–29 %) | I 1 tilstand |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SPRY4sprouty RTK signaling antagonist 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TACR3tachykinin receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Noen ganger (5–29 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Noen ganger (5–29 %) | I 1 tilstand |
| TUBTUB bipartite transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Noen ganger (5–29 %) | I 1 tilstand |
| USH2Ausherin | Noen ganger (5–29 %) | I 2 tilstander |
| VPS13Cvacuolar protein sorting 13 homolog C | Noen ganger (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| WHRNwhirlin | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF513zinc finger protein 513 | Noen ganger (5–29 %) | I 1 tilstand |
| MFN2mitofusin 2 | Ikke registrert | I 1 tilstand |
| OPN1SWopsin 1, short wave sensitive | 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.
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