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Cecha
Abnormal color vision
Nazwa kliniczna: Color vision defect
An anomaly in the ability to discriminate between or recognize colors.
Podsumowanie
- Znana także jako
- 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
- Układ organizmu
- Abnormality of the eye
AtlasKomu pomagamyNasza naukaProduktyWyniki
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Ta strona jako dane
Aby odczytać ją jako JSON, dodaj .json na końcu adresu strony lub zażądaj application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/color-vision-defect.json"
page <- fromJSON(url)
page$trait$nameAbnormal color visionHP:0000551
AtlasKomu pomagamyNasza naukaProduktyWyniki
Zaloguj sięZapytajZsekwencjonuj swój genom↗
Odczytaj geny powiązane z Abnormal color vision oraz resztę swojego genomu za pomocą jednego badania.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test72 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Retinitis PigmentosaReads 75 of these genesABCA4CRXRLBP1TULP1PROM1PRPH2About this report →
- Bardet-Biedl and Alström SyndromesReads 23 of these genesALMS1ARL6BBIP1BBS1BBS10BBS12About this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 17 of these genesCRXRPGRIP1TULP1PRPH2AIPL1CEP290About this report →
- AchromatopsiaReads 8 of these genesATF6CNGA3CNGB3GNAT2PDE6CPDE6HAbout this report →
Show 68 more reports
- Hereditary Optic NeuropathyReads 8 of these genesRTN4IP1AFG3L2DNM1LOPA1MT-ND1MT-ND4About this report →
- Parkinson DiseaseReads 8 of these genesDNAJC6LRRK2PARK7PINK1PRKNSNCAAbout this report →
- Hypogonadotropic HypogonadismReads 14 of these genesOTX2ANOS1CHD7FEZF1FGF17FGF8About this report →
- Hereditary Macular DystrophiesReads 6 of these genesRLBP1PRPH2BEST1CYP4V2ROM1RP1L1About this report →
- Congenital Stationary Night BlindnessReads 8 of these genesRLBP1CACNA1FPRPH2CABP4GUCY2DPDE6BAbout this report →
- Colour Vision DeficiencyReads 3 of these genesOPN1LWOPN1MWOPN1SWAbout this report →
- Stargardt DiseaseReads 3 of these genesABCA4ELOVL4PROM1About this report →
- Usher SyndromeReads 5 of these genesADGRV1CLRN1MYO7AUSH2AWHRNAbout this report →
- Joubert Syndrome And Related DisordersReads 8 of these genesCEP290MKS1NPHP1OFD1AHI1ARL3About this report →
- RDH5-Related Retinopathy (Fundus Albipunctatus)Reads 2 of these genesRLBP1PRPH2About this report →
- 3-Methylglutaconic Aciduria Type 8 (HTRA2)Reads 1 of these genesHTRA2About this report →
- ADAM9-Related Cone-Rod DystrophyReads 1 of these genesADAM9About this report →
- CACNA2D4-Related RetinopathyReads 1 of these genesCACNA2D4About this report →
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
- CHARGE SyndromeReads 1 of these genesCHD7About this report →
- ChoroideremiaReads 1 of these genesCHMAbout this report →
- Cone-Rod Dystrophy 20 (POC1B)Reads 1 of these genesPOC1BAbout this report →
- DCC-Related Mirror Movements and Agenesis of the Corpus CallosumReads 1 of these genesDCCAbout this report →
- Deafness-Dystonia-Optic Neuronopathy SyndromeReads 1 of these genesTIMM8AAbout this report →
- GUCY2D-Related Dominant Cone-Rod DystrophyReads 1 of these genesGUCY2DAbout this report →
- GUCY2D-Related Recessive RetinopathyReads 1 of these genesGUCY2DAbout this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- IMPG1-Related Dominant RetinopathyReads 1 of these genesIMPG1About this report →
- IMPG1-Related RetinopathyReads 1 of these genesIMPG1About this report →
- Jalili SyndromeReads 1 of these genesCNNM4About this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- OPA1-Related Optic AtrophyReads 1 of these genesOPA1About this report →
- PROM1-Related Recessive RetinopathyReads 1 of these genesPROM1About this report →
- RAB28-Related Cone-Rod DystrophyReads 1 of these genesRAB28About this report →
- RDH12-Related Early-Onset Retinal DystrophyReads 1 of these genesRDH12About this report →
- TTLL5-Related RetinopathyReads 1 of these genesTTLL5About this report →
- Inherited Neurodegenerative DisordersReads 19 of these genesRTN4IP1AFG3L2ELOVL4ALDH3A2CEP290DNM1LAbout this report →
- VitreoretinopathyReads 5 of these genesBEST1KCNJ13NR2E3NRLZNF408About this report →
- Leigh SyndromeReads 7 of these genesOPA1MT-ATP6MT-ND1MT-ND4MT-ND5MT-ND6About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 6 of these genesCEP290MKS1MTTPAHI1CC2D2ATMEM216About this report →
- Rare Hereditary Peripheral NeuropathiesReads 11 of these genesPDXKMTTPOPA1KLHL7MT-ATP6MT-ND1About this report →
- Age-Related Macular DegenerationReads 1 of these genesMFSD8About this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesDNM1LAbout this report →
- Mucopolysaccharidosis Type III (Sanfilippo Syndrome)Reads 1 of these genesHGSNATAbout this report →
- Nephronophthisis and Senior-Løken SyndromeReads 2 of these genesNPHP1SDCCAG8About this report →
- Syndromic CraniosynostosisReads 2 of these genesFGFR1IFT43About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 2 of these genesOTX2HESX1About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesIFT43About this report →
- Hereditary HypolipoproteinemiasReads 1 of these genesMTTPAbout this report →
- Monogenic Obesity (Leptin-Melanocortin Pathway)Reads 1 of these genesCEP19About this report →
- Waardenburg SyndromeReads 1 of these genesSOX10About this report →
- Nephrotic SyndromeReads 2 of these genesCOQ8BPODXLAbout this report →
- Limb-Girdle Muscular DystrophyReads 2 of these genesTRIM32POMGNT1About this report →
- Primary Mitochondrial DiseaseReads 4 of these genesAFG3L2OPA1DNAJC30NDUFS2About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesAFG3L2ELOVL4About this report →
- Autism Spectrum DisorderReads 1 of these genesRIMS1About this report →
- Meckel SyndromeReads 1 of these genesMKS1About this report →
- Hearing Loss and DeafnessReads 3 of these genesMYO7APDZD7WHRNAbout this report →
- Polycystic Kidney DiseaseReads 1 of these genesIFT140About this report →
- LipodystrophyReads 1 of these genesMFN2About this report →
- Neuronal Ceroid LipofuscinosisReads 1 of these genesMFSD8About this report →
- Lysosomal Storage DiseaseReads 2 of these genesMFSD8HGSNATAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesKLHL7About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesRNU4-2About this report →
- Congenital Disorders of GlycosylationReads 2 of these genesDHDDSPOMGNT1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesOTX2About this report →
- Congenital Muscular DystrophiesReads 1 of these genesPOMGNT1About this report →
- Osteogenesis ImperfectaReads 1 of these genesPPIBAbout this report →
- Intellectual DisabilityReads 2 of these genesSCAPERWDR11About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesUCHL1About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesMFN2About this report →
- Other Inherited LeukodystrophiesReads 1 of these genesALDH3A2About this report →
- Epilepsy (Full Panel)Reads 1 of these genesSYNJ1About this report →
Odczytaj geny powiązane z Abnormal color vision oraz resztę swojego genomu za pomocą jednego badania.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test213 genów powiązanych z Abnormal color vision
Zmiany w tych genach powodują rzadkie choroby, w których występuje Abnormal color 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 |
| CRXcone-rod homeobox | Zawsze | W 3 chorobach |
| PDXKpyridoxal kinase | Zawsze | W 1 chorobie |
| RLBP1retinaldehyde binding protein 1 | Zawsze | W 3 chorobach |
| RPGRIP1RPGR interacting protein 1 | Zawsze | W 3 chorobach |
| RTN4IP1reticulon 4 interacting protein 1 | Zawsze | W 1 chorobie |
| TULP1TUB like protein 1 | Zawsze | W 2 chorobach |
| UBAP1Lubiquitin associated protein 1 like | Zawsze | W 2 chorobach |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Bardzo często (80–99%) | W 1 chorobie |
| ATF6activating transcription factor 6 | Bardzo często (80–99%) | W 2 chorobach |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Bardzo często (80–99%) | W 3 chorobach |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Bardzo często (80–99%) | W 2 chorobach |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Bardzo często (80–99%) | W 3 chorobach |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Bardzo często (80–99%) | W 1 chorobie |
| ELOVL4ELOVL fatty acid elongase 4 | Bardzo często (80–99%) | W 1 chorobie |
| GNAT2G protein subunit alpha transducin 2 | Bardzo często (80–99%) | W 2 chorobach |
| GUCA1Aguanylate cyclase activator 1A | Bardzo często (80–99%) | W 2 chorobach |
| PDE6Cphosphodiesterase 6C | Bardzo często (80–99%) | W 2 chorobach |
| PDE6Hphosphodiesterase 6H | Bardzo często (80–99%) | W 1 chorobie |
| PROM1prominin 1 | Bardzo często (80–99%) | W 4 chorobach |
| PRPH2peripherin 2 | Bardzo często (80–99%) | W 5 chorobach |
| RPGRretinitis pigmentosa GTPase regulator | Bardzo często (80–99%) | W 5 chorobach |
| ADAM9ADAM metallopeptidase domain 9 | Często (30–79%) | W 1 chorobie |
| AIPL1AIP like 1 HSP90 co-chaperone | Często (30–79%) | W 1 chorobie |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Często (30–79%) | W 2 chorobach |
| ALMS1ALMS1 centrosome and basal body associated protein | Często (30–79%) | W 1 chorobie |
| ARL6ARF like GTPase 6 | Często (30–79%) | W 2 chorobach |
| BBIP1BBSome interacting protein 1 | Często (30–79%) | W 1 chorobie |
| BBS1Bardet-Biedl syndrome 1 | Często (30–79%) | W 2 chorobach |
| BBS10Bardet-Biedl syndrome 10 | Często (30–79%) | W 1 chorobie |
| BBS12Bardet-Biedl syndrome 12 | Często (30–79%) | W 1 chorobie |
| BBS2Bardet-Biedl syndrome 2 | Często (30–79%) | W 2 chorobach |
| BBS4Bardet-Biedl syndrome 4 | Często (30–79%) | W 1 chorobie |
| BBS5Bardet-Biedl syndrome 5 | 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 |
| BEST1bestrophin 1 | Często (30–79%) | W 4 chorobach |
| CABP4calcium binding protein 4 | Często (30–79%) | W 2 chorobach |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Często (30–79%) | W 1 chorobie |
| CDHR1cadherin related family member 1 | Często (30–79%) | W 3 chorobach |
Pokaż jeszcze 173 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| CEP19centrosomal protein 19 | Często (30–79%) | W 1 chorobie |
| CEP290centrosomal protein 290 | 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 |
| DNM1Ldynamin 1L | Często (30–79%) | W 1 chorobie |
| DRAM2DNA damage regulated autophagy modulator 2 | Często (30–79%) | W 1 chorobie |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Często (30–79%) | W 2 chorobach |
| GUCY2Dguanylate cyclase 2D, retinal | Często (30–79%) | W 1 chorobie |
| 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 |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Często (30–79%) | W 2 chorobach |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Często (30–79%) | W 2 chorobach |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Często (30–79%) | W 1 chorobie |
| LCA5lebercilin LCA5 | Często (30–79%) | W 1 chorobie |
| LRATlecithin retinol acyltransferase | Często (30–79%) | W 2 chorobach |
| LZTFL1leucine zipper transcription factor like 1 | Często (30–79%) | W 1 chorobie |
| MFSD8major facilitator superfamily domain containing 8 | Często (30–79%) | W 1 chorobie |
| MKKSMKKS centrosomal shuttling protein | Często (30–79%) | W 1 chorobie |
| MKS1MKS transition zone complex subunit 1 | Często (30–79%) | W 1 chorobie |
| MTTPmicrosomal triglyceride transfer protein | Często (30–79%) | W 1 chorobie |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Często (30–79%) | W 2 chorobach |
| NPHP1nephrocystin 1 | Często (30–79%) | W 1 chorobie |
| OFD1OFD1 centriole and centriolar satellite protein | Często (30–79%) | W 2 chorobach |
| OPA1OPA1 mitochondrial dynamin like GTPase | Często (30–79%) | W 1 chorobie |
| OPN1LWopsin 1, long wave sensitive | Często (30–79%) | W 2 chorobach |
| OPN1MWopsin 1, medium wave sensitive | Często (30–79%) | W 2 chorobach |
| OTX2orthodenticle homeobox 2 | Często (30–79%) | W 1 chorobie |
| PITPNM3PITPNM family member 3 | Często (30–79%) | W 2 chorobach |
| POC1BPOC1 centriolar protein B | Często (30–79%) | W 1 chorobie |
| PPIBpeptidylprolyl isomerase B | Często (30–79%) | W 1 chorobie |
| RAB28RAB28, member RAS oncogene family | Często (30–79%) | W 1 chorobie |
| RAX2retina and anterior neural fold homeobox 2 | Często (30–79%) | W 1 chorobie |
| RIMS1regulating synaptic membrane exocytosis 1 | Często (30–79%) | W 1 chorobie |
| RPE65retinoid isomerohydrolase RPE65 | Często (30–79%) | W 2 chorobach |
| SCAPERS-phase cyclin A associated protein in the ER | Często (30–79%) | W 2 chorobach |
| SCLT1sodium channel and clathrin linker 1 | Często (30–79%) | W 1 chorobie |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Często (30–79%) | W 1 chorobie |
| SEMA4Asemaphorin 4A | Często (30–79%) | W 2 chorobach |
| SPATA7spermatogenesis associated 7 | Często (30–79%) | W 2 chorobach |
| TLCD3BTLC domain containing 3B | Często (30–79%) | W 1 chorobie |
| TRIM32tripartite motif containing 32 | Często (30–79%) | W 1 chorobie |
| TTC8tetratricopeptide repeat domain 8 | Często (30–79%) | W 2 chorobach |
| TTLL5tubulin tyrosine ligase like 5 | Często (30–79%) | W 1 chorobie |
| UNC119unc-119 lipid binding chaperone | Często (30–79%) | W 2 chorobach |
| WDPCPWD repeat containing planar cell polarity effector | Często (30–79%) | W 1 chorobie |
| ADGRV1adhesion G protein-coupled receptor V1 | 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 |
| AHRaryl hydrocarbon receptor | Czasami (5–29%) | W 1 chorobie |
| ANOS1anosmin 1 | Czasami (5–29%) | W 1 chorobie |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Czasami (5–29%) | W 1 chorobie |
| ARL2BPARF like GTPase 2 binding protein | Czasami (5–29%) | W 1 chorobie |
| ARL3ARF like GTPase 3 | Czasami (5–29%) | W 1 chorobie |
| CA4carbonic anhydrase 4 | Czasami (5–29%) | W 1 chorobie |
| CC2D2Acoiled-coil and C2 domain containing 2A | Czasami (5–29%) | W 1 chorobie |
| CCDC141coiled-coil domain containing 141 | 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 |
| CHD7chromodomain helicase DNA binding protein 7 | Czasami (5–29%) | W 1 chorobie |
| CHMCHM Rab escort protein | Czasami (5–29%) | W 1 chorobie |
| CLRN1clarin 1 | Czasami (5–29%) | W 1 chorobie |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | 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 |
| CRB1crumbs cell polarity complex component 1 | Czasami (5–29%) | W 1 chorobie |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Czasami (5–29%) | W 1 chorobie |
| DCCDCC netrin 1 receptor | Czasami (5–29%) | W 1 chorobie |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Czasami (5–29%) | W 1 chorobie |
| DHX38DEAH-box helicase 38 | Czasami (5–29%) | W 1 chorobie |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Czasami (5–29%) | W 1 chorobie |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Czasami (5–29%) | W 1 chorobie |
| DUSP6dual specificity phosphatase 6 | Czasami (5–29%) | W 1 chorobie |
| EMX2empty spiracles homeobox 2 | 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 |
| FEZF1FEZ family zinc finger 1 | Czasami (5–29%) | W 1 chorobie |
| FGF17fibroblast growth factor 17 | Czasami (5–29%) | W 1 chorobie |
| FGF8fibroblast growth factor 8 | Czasami (5–29%) | W 1 chorobie |
| FGFR1fibroblast growth factor receptor 1 | Czasami (5–29%) | W 1 chorobie |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Czasami (5–29%) | W 1 chorobie |
| FSCN2fascin actin-bundling protein 2, retinal | Czasami (5–29%) | W 1 chorobie |
| GUCA1Bguanylate cyclase activator 1B | Czasami (5–29%) | W 1 chorobie |
| HESX1HESX homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Czasami (5–29%) | W 2 chorobach |
| HKDC1hexokinase domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Czasami (5–29%) | W 1 chorobie |
| HTRA2HtrA serine peptidase 2 | Czasami (5–29%) | W 1 chorobie |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| 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 1 chorobie |
| IFT88intraflagellar transport 88 | Czasami (5–29%) | W 1 chorobie |
| IL17RDinterleukin 17 receptor D | Czasami (5–29%) | W 1 chorobie |
| IMPDH1inosine monophosphate dehydrogenase 1 | Czasami (5–29%) | W 1 chorobie |
| KIAA1549KIAA1549 | Czasami (5–29%) | W 1 chorobie |
| KIZkizuna centrosomal protein | Czasami (5–29%) | W 1 chorobie |
| KLHL7kelch like family member 7 | Czasami (5–29%) | W 1 chorobie |
| LRRK2leucine rich repeat kinase 2 | Czasami (5–29%) | W 1 chorobie |
| MAKmale germ cell associated kinase | Czasami (5–29%) | W 1 chorobie |
| MERTKMER proto-oncogene, tyrosine kinase | Czasami (5–29%) | W 1 chorobie |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Czasami (5–29%) | W 1 chorobie |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Czasami (5–29%) | W 1 chorobie |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Czasami (5–29%) | W 1 chorobie |
| MT-CYBmitochondrially encoded cytochrome b | Czasami (5–29%) | W 1 chorobie |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Czasami (5–29%) | W 1 chorobie |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Czasami (5–29%) | W 1 chorobie |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Czasami (5–29%) | W 1 chorobie |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Czasami (5–29%) | W 1 chorobie |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Czasami (5–29%) | W 1 chorobie |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Czasami (5–29%) | W 1 chorobie |
| MYO7Amyosin VIIA | Czasami (5–29%) | W 1 chorobie |
| NDNFneuron derived neurotrophic factor | Czasami (5–29%) | W 1 chorobie |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Czasami (5–29%) | W 1 chorobie |
| NEK2NIMA related kinase 2 | Czasami (5–29%) | W 1 chorobie |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Czasami (5–29%) | W 1 chorobie |
| NRLneural retina leucine zipper | Czasami (5–29%) | W 1 chorobie |
| PARK7Parkinsonism associated deglycase | 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 |
| PDE6Gphosphodiesterase 6G | Czasami (5–29%) | W 1 chorobie |
| PDZD7PDZ domain containing 7 | Czasami (5–29%) | W 1 chorobie |
| PINK1PTEN induced kinase 1 | Czasami (5–29%) | W 1 chorobie |
| PODXLpodocalyxin like | Czasami (5–29%) | W 1 chorobie |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Czasami (5–29%) | W 1 chorobie |
| PRCDphotoreceptor disc component | Czasami (5–29%) | W 1 chorobie |
| PRKNparkin RBR E3 ubiquitin protein ligase | Czasami (5–29%) | W 1 chorobie |
| PROK2prokineticin 2 | Czasami (5–29%) | W 1 chorobie |
| PROKR2prokineticin receptor 2 | 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 1 chorobie |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Czasami (5–29%) | W 1 chorobie |
| PRPF6pre-mRNA processing factor 6 | Czasami (5–29%) | W 1 chorobie |
| PRPF8pre-mRNA processing factor 8 | Czasami (5–29%) | W 1 chorobie |
| RBP3retinol binding protein 3 | Czasami (5–29%) | W 1 chorobie |
| RDH12retinol dehydrogenase 12 | Czasami (5–29%) | W 1 chorobie |
| REEP6receptor accessory protein 6 | Czasami (5–29%) | W 1 chorobie |
| RGRretinal G protein coupled receptor | Czasami (5–29%) | W 1 chorobie |
| RHOrhodopsin | 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 |
| RP1RP1 axonemal microtubule associated | Czasami (5–29%) | W 1 chorobie |
| RP1L1RP1 like 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 |
| SAGS-antigen visual arrestin | Czasami (5–29%) | W 1 chorobie |
| SAXO6stabilizer of axonemal microtubules 6 | Czasami (5–29%) | W 1 chorobie |
| SEMA3Asemaphorin 3A | Czasami (5–29%) | W 1 chorobie |
| SLC7A14solute carrier family 7 member 14 | Czasami (5–29%) | W 1 chorobie |
| SNCAsynuclein alpha | Czasami (5–29%) | W 1 chorobie |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Czasami (5–29%) | W 1 chorobie |
| SOX10SRY-box transcription factor 10 | Czasami (5–29%) | W 1 chorobie |
| SPRY4sprouty RTK signaling antagonist 4 | Czasami (5–29%) | W 1 chorobie |
| SYNJ1synaptojanin 1 | Czasami (5–29%) | W 1 chorobie |
| TACR3tachykinin receptor 3 | Czasami (5–29%) | W 1 chorobie |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Czasami (5–29%) | W 1 chorobie |
| TMEM216transmembrane protein 216 | Czasami (5–29%) | W 1 chorobie |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Czasami (5–29%) | W 1 chorobie |
| TUBTUB bipartite transcription factor | Czasami (5–29%) | W 1 chorobie |
| UCHL1ubiquitin C-terminal hydrolase L1 | Czasami (5–29%) | W 1 chorobie |
| USH2Ausherin | Czasami (5–29%) | W 2 chorobach |
| VPS13Cvacuolar protein sorting 13 homolog C | Czasami (5–29%) | W 1 chorobie |
| WDR11WD repeat domain 11 | Czasami (5–29%) | W 1 chorobie |
| WHRNwhirlin | Czasami (5–29%) | W 1 chorobie |
| ZNF408zinc finger protein 408 | Czasami (5–29%) | W 1 chorobie |
| ZNF513zinc finger protein 513 | Czasami (5–29%) | W 1 chorobie |
| MFN2mitofusin 2 | Nie odnotowano | W 1 chorobie |
| OPN1SWopsin 1, short wave sensitive | 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 2026.10.19-9814e911.
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