Red-green color blindness

Summary

Red-green color blindness (MONDO:0010564) is a disease caused by OPN1MW (GenCC Strong), with 1 cohort gene and 25 clinical trials. Top therapeutic interventions include cannabidiol, capsaicin, and norethindrone acetate.

At a glance

• Causal gene: OPN1MW (GenCC Strong)
• Cohort genes: 1
• Clinical trials: 25

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	red-green color blindness
Mondo ID	MONDO:0010564
EFO	EFO:0005581
OMIM	303800
Orphanet	319698
DOID	DOID:13909
ICD-10-CM	H53.53
SNOMED CT	77479002
UMLS	C0155016
MedGen	102324
GARD	0027795
Is cancer (heuristic)	no

Also known as: CBD · colorblindness, deutan · colorblindness, partial, DEUTAN series · Deutan defect · deuteranopia · partial achromatopsia, deutan type

Data availability: 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › perceptual disorders › vision disorder › color vision disorder › colorblindness, partial › red-green color blindness

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 6 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
OPN1MW	Strong	X-linked	red-green color blindness	6

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
OPN1MW	Orphanet:16	Blue cone monochromatism
OPN1MW	Orphanet:1872	Cone rod dystrophy
OPN1MW	Orphanet:90001	X-linked cone dysfunction syndrome with myopia

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
OPN1MW	HGNC:4206	ENSG00000268221	P04001	Medium-wave-sensitive opsin 1	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
OPN1MW	Medium-wave-sensitive opsin 1	Visual pigments are the light-absorbing molecules that mediate vision.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
GPCR	1	23.9×	0.042

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
OPN1MW	GPCR	yes		GPCR_Rhodpsn, Opsin_red/grn, Opsin

Expression context

Cohort genes with no expression data: 0.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	1
broad (>20)	0
unknown	0

Top tissues across cohort

Tissue	Cohort genes
colonic epithelium	1
male germ line stem cell (sensu Vertebrata) in testis	1
sural nerve	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
OPN1MW	16		yes	male germ line stem cell (sensu Vertebrata) in testis, colonic epithelium, sural nerve

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
OPN1MW	0

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
OPN1MW	P04001	3

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 4. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Defective visual phototransduction due to OPN1MW loss of function	1	11420.0×	4e-04	OPN1MW
The retinoid cycle in cones (daylight vision)	1	1631.4×	0.001	OPN1MW
Opsins	1	1268.9×	0.001	OPN1MW
G alpha (i) signalling events	1	39.0×	0.026	OPN1MW

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
absorption of visible light	1	2808.7×	0.002	OPN1MW
cellular response to light stimulus	1	1053.2×	0.003	OPN1MW
phototransduction	1	495.6×	0.004	OPN1MW
positive regulation of cytokinesis	1	401.2×	0.004	OPN1MW
visual perception	1	79.5×	0.015	OPN1MW
G protein-coupled receptor signaling pathway	1	36.2×	0.028	OPN1MW

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
OPN1MW	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	OPN1MW
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
OPN1MW	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 25.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE1	6
Not specified	6
PHASE2	4
PHASE2/PHASE3	3
PHASE1/PHASE2	2
EARLY_PHASE1	2
PHASE4	1
PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04997954	PHASE4	UNKNOWN	EMERALD TRIAL Open Label Extension Study
NCT04423341	PHASE2/PHASE3	COMPLETED	Effect of Non-psychoactive Cannabidiol as an Adjunct to Botulinum Toxin in Blepharospasm
NCT04527003	PHASE3	TERMINATED	Cannabidiol and Management of Endometriosis Pain
NCT04775030	PHASE2/PHASE3	UNKNOWN	Methodology for Developing an Occlusal Appliance With CBD Active Carrier
NCT05562635	PHASE2/PHASE3	UNKNOWN	CBD (Cannabidiol) Intraoral Application and TMD (Temporomandibular Disorders)
NCT04482244	PHASE2	ACTIVE_NOT_RECRUITING	RCT of CBD for Anxiety in Advanced Breast Cancer
NCT04360044	PHASE2	COMPLETED	Efficacy of Inhaled Cannabis for Acute Migraine Treatment
NCT04412837	PHASE2	WITHDRAWN	The Use of Cannabinoid Patch for Knee Osteoarthritis
NCT04611347	PHASE2	COMPLETED	Is Topical CBD Effective in Treating Thumb Joint Arthritis
NCT04778644	PHASE1/PHASE2	UNKNOWN	Hippocampal Response to Acute Oral Doses of CBD During an fMRI Memory Task
NCT04976738	PHASE1/PHASE2	COMPLETED	A Study of Cybis™ 10:25 THC:CBD Oil in Adults With Chronic Back/Neck Pain
NCT07001930	PHASE1	RECRUITING	Effects of Cannabidiol on Stress and Nicotine Withdrawal
NCT04030442	PHASE1	UNKNOWN	Cannabidiol, Morphine, Pain
NCT04686539	PHASE1	UNKNOWN	Synthetic CBD as a Therapy for COVID-19
NCT04729244	PHASE1	UNKNOWN	The Study of Hemp Oil CBD for Evaluation of Efficacy and Safety in Treatment of Pain, Anxiety and Insomnia Management
NCT05121506	PHASE1	COMPLETED	A Study to Investigate the Bioavailability and Skin Absorption of CBD and THC From GT4 Technology in Healthy Adults
NCT05490511	PHASE1	COMPLETED	Drug-gene-nutraceutical Interactions of Cannabidiol and Tacrolimus
NCT04398719	EARLY_PHASE1	COMPLETED	CBD-Microglia PET Study
NCT04777643	EARLY_PHASE1	COMPLETED	Sex Differences in Neural Response to Cannabidiol
NCT04680130	Not specified	ENROLLING_BY_INVITATION	Clinico-Pathologic-Genetic-Imaging Study of Neurodegenerative and Related Disorders
NCT05956834	Not specified	ACTIVE_NOT_RECRUITING	A Multi-Modal Remote Monitoring Platform for Frontotemporal Lobar Degeneration (FTLD) Syndromes
NCT07069478	Not specified	RECRUITING	Cannabidiol (CBD) and Stress Response: Psychobiological Mechanisms
NCT02994030	Not specified	COMPLETED	Biomarker for Duchenne Muscular Dystrophy
NCT04831294	Not specified	UNKNOWN	Effects of Cannabidiol (CBD) on the Brain
NCT04851392	Not specified	COMPLETED	Do Adolescents and Adults Differ in Their Acute Response to Cannabis?

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CANNABIDIOL	4	6
CAPSAICIN	4	1
NORETHINDRONE ACETATE	4	1
ZUCAPSAICIN	3	1
CHEMBL4091490	0	1