Požymis
Color blindness
Klinikinis pavadinimas: Dyschromatopsia
A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.
Santrauka
- Taip pat vadinama
- Colour blindness
- Kūno sistema
- Abnormality of the eye
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/dyschromatopsia.json"
page <- fromJSON(url)
page$trait$nameVienu tyrimu sužinokite genus, susijusius su Color blindness, ir kitą jūsų genomo dalį.
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Įsigyti savo Genome Test33 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.
- AchromatopsiaReads 7 of these genesPDE6CPDE6HATF6CNGA3CNGB3OPN1LWAbout this report →
- Colour Vision DeficiencyReads 3 of these genesOPN1LWOPN1MWOPN1SWAbout this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 6 of these genesGUCY2DAIPL1CRXNMNAT1PRPH2RPGRIP1About this report →
- Stargardt DiseaseReads 2 of these genesABCA4PROM1About this report →
Show 29 more reports
- Congenital Stationary Night BlindnessReads 5 of these genesGUCY2DCACNA1FPRPH2GRK1SAGAbout this report →
- Retinitis PigmentosaReads 10 of these genesABCA4CDHR1CFAP418CRXPROM1PRPH2About this report →
- ADAM9-Related Cone-Rod DystrophyReads 1 of these genesADAM9About this report →
- CACNA2D4-Related RetinopathyReads 1 of these genesCACNA2D4About this report →
- Cone-Rod Dystrophy 20 (POC1B)Reads 1 of these genesPOC1BAbout this report →
- GUCY2D-Related Dominant Cone-Rod DystrophyReads 1 of these genesGUCY2DAbout this report →
- GUCY2D-Related Recessive RetinopathyReads 1 of these genesGUCY2DAbout this report →
- IMPG1-Related Dominant RetinopathyReads 1 of these genesIMPG1About this report →
- IMPG1-Related RetinopathyReads 1 of these genesIMPG1About 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 →
- TTLL5-Related RetinopathyReads 1 of these genesTTLL5About this report →
- Hereditary Optic NeuropathyReads 3 of these genesAFG3L2OPA1TMEM126AAbout this report →
- Age-Related Macular DegenerationReads 1 of these genesMFSD8About this report →
- Hereditary Macular DystrophiesReads 2 of these genesPRPH2BEST1About this report →
- RDH5-Related Retinopathy (Fundus Albipunctatus)Reads 1 of these genesPRPH2About this report →
- Primary Mitochondrial DiseaseReads 6 of these genesAFG3L2OPA1MTRFRPOLGTK2TOP3AAbout this report →
- Leigh SyndromeReads 3 of these genesMECROPA1MTRFRAbout this report →
- Autism Spectrum DisorderReads 1 of these genesRIMS1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 5 of these genesMECROPA1MORC2MTRFRPOLGAbout this report →
- Inherited Neurodegenerative DisordersReads 6 of these genesAFG3L2MECROPA1MFSD8POLGTMEM126AAbout this report →
- Neuronal Ceroid LipofuscinosisReads 1 of these genesMFSD8About this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesCFAP418About this report →
- VitreoretinopathyReads 1 of these genesBEST1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesAFG3L2About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesMECRAbout this report →
- Lysosomal Storage DiseaseReads 1 of these genesMFSD8About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesMORC2About this report →
Vienu tyrimu sužinokite genus, susijusius su Color blindness, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test53 genų susiję su Color blindness
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Color blindness. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Visada | 1 ligoje |
| GUCY2Dguanylate cyclase 2D, retinal | Visada | 3 ligose |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Visada | 1 ligoje |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Visada | 1 ligoje |
| OPA1OPA1 mitochondrial dynamin like GTPase | Visada | 1 ligoje |
| PDE6Cphosphodiesterase 6C | Visada | 1 ligoje |
| PDE6Hphosphodiesterase 6H | Visada | 1 ligoje |
| ABCA4ATP binding cassette subfamily A member 4 | Dažnai (30–79%) | 1 ligoje |
| ADAM9ADAM metallopeptidase domain 9 | Dažnai (30–79%) | 1 ligoje |
| AIPL1AIP like 1 HSP90 co-chaperone | Dažnai (30–79%) | 1 ligoje |
| ATF6activating transcription factor 6 | Dažnai (30–79%) | 1 ligoje |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Dažnai (30–79%) | 1 ligoje |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Dažnai (30–79%) | 1 ligoje |
| CDHR1cadherin related family member 1 | Dažnai (30–79%) | 1 ligoje |
| CEP78centrosomal protein 78 | Dažnai (30–79%) | 1 ligoje |
| CFAP410cilia and flagella associated protein 410 | Dažnai (30–79%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Dažnai (30–79%) | 1 ligoje |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Dažnai (30–79%) | 1 ligoje |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Dažnai (30–79%) | 1 ligoje |
| CRXcone-rod homeobox | Dažnai (30–79%) | 1 ligoje |
| DRAM2DNA damage regulated autophagy modulator 2 | Dažnai (30–79%) | 1 ligoje |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Dažnai (30–79%) | 1 ligoje |
| GUCA1Aguanylate cyclase activator 1A | Dažnai (30–79%) | 2 ligose |
| MFSD8major facilitator superfamily domain containing 8 | Dažnai (30–79%) | 1 ligoje |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| OPN1LWopsin 1, long wave sensitive | Dažnai (30–79%) | 1 ligoje |
| OPN1MWopsin 1, medium wave sensitive | Dažnai (30–79%) | 1 ligoje |
| PITPNM3PITPNM family member 3 | Dažnai (30–79%) | 1 ligoje |
| POC1BPOC1 centriolar protein B | Dažnai (30–79%) | 1 ligoje |
| PROM1prominin 1 | Dažnai (30–79%) | 2 ligose |
| PRPH2peripherin 2 | Dažnai (30–79%) | 2 ligose |
| RAB28RAB28, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RAX2retina and anterior neural fold homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| RIMS1regulating synaptic membrane exocytosis 1 | Dažnai (30–79%) | 1 ligoje |
| RPGRretinitis pigmentosa GTPase regulator | Dažnai (30–79%) | 1 ligoje |
| RPGRIP1RPGR interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| SEMA4Asemaphorin 4A | Dažnai (30–79%) | 1 ligoje |
| TLCD3BTLC domain containing 3B | Dažnai (30–79%) | 1 ligoje |
| TTLL5tubulin tyrosine ligase like 5 | Dažnai (30–79%) | 1 ligoje |
| UBAP1Lubiquitin associated protein 1 like | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 13 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| UNC119unc-119 lipid binding chaperone | Dažnai (30–79%) | 1 ligoje |
| BEST1bestrophin 1 | Kartais (5–29%) | 1 ligoje |
| MORC2MORC family CW-type zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| MTRFRmitochondrial translation release factor in rescue | Kartais (5–29%) | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Kartais (5–29%) | 2 ligose |
| RRM1ribonucleotide reductase catalytic subunit M1 | Kartais (5–29%) | 1 ligoje |
| TK2thymidine kinase 2 | Kartais (5–29%) | 1 ligoje |
| TOP3ADNA topoisomerase III alpha | Kartais (5–29%) | 1 ligoje |
| GRK1G protein-coupled receptor kinase 1 | Neužfiksuota | 1 ligoje |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Neužfiksuota | 1 ligoje |
| OPN1SWopsin 1, short wave sensitive | Neužfiksuota | 1 ligoje |
| SAGS-antigen visual arrestin | Neužfiksuota | 1 ligoje |
| TMEM126Atransmembrane protein 126A | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.19-9814e911.
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