Color vision disorder
diseaseOn this page
Also known as blindness colorblindness colourcolor blindnesscolor vision defectscolor vision deficiencycolor-vision diseasecolour vision defects
Summary
Color vision disorder (MONDO:0001703) is a disease (an umbrella term covering 5 Mondo subtypes) with 1,370 GWAS associations across 3 studies and 6 clinical trials. A subtype of vision disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 5 Mondo subtypes
- GWAS associations: 1,370
- Clinical trials: 6
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | color vision disorder |
| Mondo ID | MONDO:0001703 |
| Orphanet | 98658 |
| DOID | DOID:13399 |
| ICD-10-CM | H53.5 |
| NCIT | C3891 |
| SNOMED CT | 193683001 |
| UMLS | C5681659 |
| MedGen | 1826147 |
| Is cancer (heuristic) | no |
Also known as: blindness color · blindness colour · color blindness · color vision defects · color vision deficiency · color-vision disease · colour vision defects
Data availability: 1,370 GWAS associations (3 studies).
Disease family
This is a subtype of vision disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › nervous system disorder › perceptual disorders › vision disorder › color vision disorder
Related subtypes (6): visual agnosia, amblyopia, binocular vision disease, visual pathway disorder, blindness (disorder), Alice in Wonderland syndrome
Subtypes (5): colorblindness, partial, acquired color blindness, blue color blindness, red color blindness, achromatopsia
Genetics & variants
GWAS landscape
1,370 GWAS associations across 3 studies. Top hits map to 38 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs145079583 | 9e-14 | WDR73 | G | 0.34 |
| rs150265248 | 2e-12 | Y_RNA - LINC02672 | G | 0.32 |
| rs146729070 | 4e-12 | RN7SL493P - ATF7IP2 | T | 0.32 |
| rs117555778 | 4e-12 | IQGAP1 | T | 0.23 |
| rs192430987 | 4e-12 | NPTN - CD276 | C | 0.24 |
| rs117316296 | 2e-11 | ATP2B1-AS1 | G | 0.27 |
| rs191921656 | 3e-11 | FTLP19 - RNU6-1075P | G | 0.65 |
| rs556848014 | 5e-11 | COL22A1 - KCNK9 | T | 0.54 |
| rs117992346 | 6e-11 | LINC01500 | A | 0.44 |
| rs55833596 | 6e-11 | INO80C - GALNT1 | T | 0.23 |
| rs140150162 | 6e-11 | VPS54 - PELI1 | C | 0.24 |
| rs118136100 | 1e-10 | PIWIL4-AS1, PIWIL4 | A | 0.41 |
| rs115869883 | 1e-10 | RRH | C | 0.27 |
| rs61958151 | 2e-10 | LMO7 | C | 0.33 |
| rs111486585 | 3e-10 | MIATNB | T | 0.25 |
| rs558978735 | 3e-10 | LRP1B | T | 0.33 |
| rs191157379 | 3e-10 | NEO1 | A | 0.24 |
| rs142163046 | 3e-10 | TLN2 | A | 0.25 |
| rs72680270 | 4e-10 | MDGA2 | T | 0.22 |
| rs116495417 | 4e-10 | LINC00636, LINC00635 | T | 0.21 |
| rs269623 | 5e-10 | LINC00355 | C | 0.24 |
| rs186970025 | 5e-10 | AHCYP4 - SNORA72 | A | 0.24 |
| rs77046774 | 6e-10 | MC5R | G | 0.13 |
| rs1894786 | 7e-10 | NPSR1-AS1 | C | 0.31 |
| rs76912991 | 7e-10 | CHKA | G | 0.17 |
| rs17292725 | 8e-10 | STARD6 | A | 0.29 |
| rs116929960 | 9e-10 | VN1R70P - PPP1R1AP2 | A | 0.34 |
| rs11664796 | 9e-10 | LINC01924 - LINC01916 | C | 0.2 |
| rs61760723 | 9e-10 | PAX7 | T | 0.18 |
| rs13219870 | 1e-09 | HDAC2-AS2, LNCPOIR | T | 0.54 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90481918 | Verma A | 2024 | 277 | 450,355 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90301670 | Nardone GG | 2023 | 31 | 0 | Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations. |
| GCST90301671 | Nardone GG | 2023 | 12 | 0 | Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 1 |
| Tier 2: splice/UTR | 2 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 47 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 2 |
| low_freq (0.01-0.05) | 48 |
| rare (<0.01) | 0 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 35 |
| intergenic_variant | 11 |
| 3_prime_UTR_variant | 2 |
| stop_gained | 1 |
| non_coding_transcript_exon_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs145079583 | 15 | 84652631 | A>G | 0.016 | intron_variant | WDR73 | 9e-14 | Tier 4: intronic/intergenic |
| rs150265248 | 10 | 52908519 | A>G | 0.016 | intergenic_variant | Y_RNA - LINC02672 | 2e-12 | Tier 4: intronic/intergenic |
| rs146729070 | 16 | 10300493 | C>T | 0.019 | intron_variant | RN7SL493P - ATF7IP2 | 4e-12 | Tier 4: intronic/intergenic |
| rs117555778 | 15 | 90476220 | C>T | 0.025 | intron_variant | IQGAP1 | 4e-12 | Tier 4: intronic/intergenic |
| rs192430987 | 15 | 73640875 | A>C | 0.026 | intergenic_variant | NPTN - CD276 | 4e-12 | Tier 4: intronic/intergenic |
| rs117316296 | 12 | 89944404 | A>G | 0.014 | intron_variant | ATP2B1-AS1 | 2e-11 | Tier 4: intronic/intergenic |
| rs191921656 | 10 | 16151093 | A>G | 0.01 | intergenic_variant | FTLP19 - RNU6-1075P | 3e-11 | Tier 4: intronic/intergenic |
| rs556848014 | 8 | 139006294 | G>A,C,T | 0.011 | intergenic_variant | COL22A1 - KCNK9 | 5e-11 | Tier 4: intronic/intergenic |
| rs117992346 | 14 | 58835724 | G>A | 0.015 | intron_variant | LINC01500 | 6e-11 | Tier 4: intronic/intergenic |
| rs55833596 | 18 | 35561942 | C>T | 0.017 | intergenic_variant | INO80C - GALNT1 | 6e-11 | Tier 4: intronic/intergenic |
| rs140150162 | 2 | 64051869 | A>C | 0.017 | intergenic_variant | VPS54 - PELI1 | 6e-11 | Tier 4: intronic/intergenic |
| rs118136100 | 11 | 94576710 | G>A,T | 0.017 | intron_variant | PIWIL4-AS1, PIWIL4 | 1e-10 | Tier 4: intronic/intergenic |
| rs115869883 | 4 | 109831805 | G>C | 0.015 | intron_variant | RRH | 1e-10 | Tier 4: intronic/intergenic |
| rs61958151 | 13 | 75738336 | A>C,G,T | 0.014 | intron_variant | LMO7 | 2e-10 | Tier 4: intronic/intergenic |
| rs111486585 | 22 | 26860327 | C>G,T | 0.022 | intron_variant | MIATNB | 3e-10 | Tier 4: intronic/intergenic |
| rs558978735 | 2 | 141035293 | C>T | 0.013 | intron_variant | LRP1B | 3e-10 | Tier 4: intronic/intergenic |
| rs191157379 | 15 | 73208250 | G>A,C | 0.018 | intron_variant | NEO1 | 3e-10 | Tier 4: intronic/intergenic |
| rs142163046 | 15 | 62443050 | T>A | 0.017 | intron_variant | TLN2 | 3e-10 | Tier 4: intronic/intergenic |
| rs72680270 | 14 | 47271717 | G>T | 0.024 | intron_variant | MDGA2 | 4e-10 | Tier 4: intronic/intergenic |
| rs116495417 | 3 | 107848869 | C>T | 0.029 | intron_variant | LINC00636, LINC00635 | 4e-10 | Tier 4: intronic/intergenic |
| rs269623 | 13 | 64069352 | T>C | 0.014 | intron_variant | LINC00355 | 5e-10 | Tier 4: intronic/intergenic |
| rs186970025 | 2 | 139145763 | G>A | 0.025 | intergenic_variant | AHCYP4 - SNORA72 | 5e-10 | Tier 4: intronic/intergenic |
| rs77046774 | 18 | 13825163 | A>G | 0.056 | intron_variant | MC5R | 6e-10 | Tier 4: intronic/intergenic |
| rs1894786 | 7 | 34503719 | G>C | 0.026 | intron_variant | NPSR1-AS1 | 7e-10 | Tier 4: intronic/intergenic |
| rs76912991 | 11 | 68056401 | A>G | 0.03 | intron_variant | CHKA | 7e-10 | Tier 4: intronic/intergenic |
| rs17292725 | 18 | 54354519 | G>A | 0.041 | stop_gained | STARD6 | 8e-10 | Tier 1: coding |
| rs116929960 | 16 | 35903468 | G>A,T | 0.023 | non_coding_transcript_exon_variant | VN1R70P - PPP1R1AP2 | 9e-10 | Tier 4: intronic/intergenic |
| rs11664796 | 18 | 65342274 | T>C | 0.024 | intergenic_variant | LINC01924 - LINC01916 | 9e-10 | Tier 4: intronic/intergenic |
| rs61760723 | 1 | 18696543 | C>T | 0.034 | intron_variant | PAX7 | 9e-10 | Tier 4: intronic/intergenic |
| rs13219870 | 6 | 114489239 | C>T | 0.012 | intron_variant | HDAC2-AS2, LNCPOIR | 1e-09 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 6.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 6 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT07085533 | Not specified | RECRUITING | Natural History Study of Inherited Retinal Diseases |
| NCT07110493 | Not specified | RECRUITING | Study of Visual Perception Phenomena: Phosphene Mapping Induced by TMS and Its Relationship With Eye Movements |
| NCT04021914 | Not specified | TERMINATED | Feasibility of EnChroma Use in the Emergency Department Setting |
| NCT04606355 | Not specified | SUSPENDED | Autostereoscopic Dynamic Near Vision Testing |
| NCT05463016 | Not specified | COMPLETED | Impact of Color Correcting Lenses on Color Vision Deficiency |
| NCT05643222 | Not specified | COMPLETED | Performance of Red Tinted Contact Lenses on Colour Defects |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.