Trait
Color blindness
Clinical name: 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.
Summary
- Also called
- Colour blindness
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test53 genes linked to Color blindness
Changes in these genes cause rare conditions in which Color blindness is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Always | In 1 condition |
| GUCY2Dguanylate cyclase 2D, retinal | Always | In 3 conditions |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Always | In 1 condition |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Always | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Always | In 1 condition |
| PDE6Cphosphodiesterase 6C | Always | In 1 condition |
| PDE6Hphosphodiesterase 6H | Always | In 1 condition |
| ABCA4ATP binding cassette subfamily A member 4 | Often (30–79%) | In 1 condition |
| ADAM9ADAM metallopeptidase domain 9 | Often (30–79%) | In 1 condition |
| AIPL1AIP like 1 HSP90 co-chaperone | Often (30–79%) | In 1 condition |
| ATF6activating transcription factor 6 | Often (30–79%) | In 1 condition |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Often (30–79%) | In 1 condition |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Often (30–79%) | In 1 condition |
| CDHR1cadherin related family member 1 | Often (30–79%) | In 1 condition |
| CEP78centrosomal protein 78 | Often (30–79%) | In 1 condition |
| CFAP410cilia and flagella associated protein 410 | Often (30–79%) | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Often (30–79%) | In 1 condition |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Often (30–79%) | In 1 condition |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Often (30–79%) | In 1 condition |
| CRXcone-rod homeobox | Often (30–79%) | In 1 condition |
| DRAM2DNA damage regulated autophagy modulator 2 | Often (30–79%) | In 1 condition |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Often (30–79%) | In 1 condition |
| GUCA1Aguanylate cyclase activator 1A | Often (30–79%) | In 2 conditions |
| MFSD8major facilitator superfamily domain containing 8 | Often (30–79%) | In 1 condition |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Often (30–79%) | In 1 condition |
| OPN1LWopsin 1, long wave sensitive | Often (30–79%) | In 1 condition |
| OPN1MWopsin 1, medium wave sensitive | Often (30–79%) | In 1 condition |
| PITPNM3PITPNM family member 3 | Often (30–79%) | In 1 condition |
| POC1BPOC1 centriolar protein B | Often (30–79%) | In 1 condition |
| PROM1prominin 1 | Often (30–79%) | In 2 conditions |
| PRPH2peripherin 2 | Often (30–79%) | In 2 conditions |
| RAB28RAB28, member RAS oncogene family | Often (30–79%) | In 1 condition |
| RAX2retina and anterior neural fold homeobox 2 | Often (30–79%) | In 1 condition |
| RIMS1regulating synaptic membrane exocytosis 1 | Often (30–79%) | In 1 condition |
| RPGRretinitis pigmentosa GTPase regulator | Often (30–79%) | In 1 condition |
| RPGRIP1RPGR interacting protein 1 | Often (30–79%) | In 1 condition |
| SEMA4Asemaphorin 4A | Often (30–79%) | In 1 condition |
| TLCD3BTLC domain containing 3B | Often (30–79%) | In 1 condition |
| TTLL5tubulin tyrosine ligase like 5 | Often (30–79%) | In 1 condition |
| UBAP1Lubiquitin associated protein 1 like | Often (30–79%) | In 1 condition |
Show 13 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| UNC119unc-119 lipid binding chaperone | Often (30–79%) | In 1 condition |
| BEST1bestrophin 1 | Sometimes (5–29%) | In 1 condition |
| MORC2MORC family CW-type zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| MTRFRmitochondrial translation release factor in rescue | Sometimes (5–29%) | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Sometimes (5–29%) | In 2 conditions |
| RRM1ribonucleotide reductase catalytic subunit M1 | Sometimes (5–29%) | In 1 condition |
| TK2thymidine kinase 2 | Sometimes (5–29%) | In 1 condition |
| TOP3ADNA topoisomerase III alpha | Sometimes (5–29%) | In 1 condition |
| GRK1G protein-coupled receptor kinase 1 | Not recorded | In 1 condition |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Not recorded | In 1 condition |
| OPN1SWopsin 1, short wave sensitive | Not recorded | In 1 condition |
| SAGS-antigen visual arrestin | Not recorded | In 1 condition |
| TMEM126Atransmembrane protein 126A | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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