Red color blindness

Summary

Red color blindness (MONDO:0010565) is a disease caused by OPN1LW (GenCC Strong), with 1 cohort gene and 1 clinical trial.

At a glance

• Causal gene: OPN1LW (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 3
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	red color blindness
Mondo ID	MONDO:0010565
EFO	EFO:0005580
OMIM	303900
Orphanet	319691
DOID	DOID:13910
ICD-10-CM	H53.54
SNOMED CT	51445007
UMLS	C0155015
MedGen	56350
Is cancer (heuristic)	no

Also known as: CBP · colorblindness, partial, protan series · colorblindness, protan · partial achromatopsia, protan type · protan defect · protanopia · red color blindness

Data availability: 3 ClinVar variants · 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 › red color blindness

Related subtypes (4): colorblindness, partial, acquired color blindness, blue color blindness, achromatopsia

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

ClinVar germline variants

3 retrieved; paginated sample, class counts are floors:

2 pathogenic, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
10505	NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg)	OPN1LW	Pathogenic	criteria provided, multiple submitters, no conflicts
10506	NM_020061.6(OPN1LW):c.1013G>A (p.Gly338Glu)	OPN1LW	Pathogenic	no assertion criteria provided
2671886	NM_020061.6(OPN1LW):c.764_765del (p.Glu255fs)	OPN1LW	Likely pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · 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
OPN1LW	Strong	X-linked	red color blindness	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
OPN1LW	Orphanet:16	Blue cone monochromatism
OPN1LW	Orphanet:1872	Cone rod dystrophy
OPN1LW	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
OPN1LW	HGNC:9936	ENSG00000102076	P04000	Long-wave-sensitive opsin 1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
OPN1LW	Long-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)
OPN1LW	GPCR	yes		GPCR_Rhodpsn, Opsin_red/grn, Opsin

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

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
ganglionic eminence	1
sural nerve	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
OPN1LW	16	tissue_specific	marker	ganglionic eminence, sural nerve, colonic epithelium

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
OPN1LW	612

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
OPN1LW	P04000	1

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 OPN1LW loss of function	1	11420.0×	4e-04	OPN1LW
The retinoid cycle in cones (daylight vision)	1	1631.4×	0.001	OPN1LW
Opsins	1	1268.9×	0.001	OPN1LW
G alpha (i) signalling events	1	39.0×	0.026	OPN1LW

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	OPN1LW
cellular response to light stimulus	1	1053.2×	0.003	OPN1LW
phototransduction	1	495.6×	0.004	OPN1LW
positive regulation of cytokinesis	1	401.2×	0.004	OPN1LW
visual perception	1	79.5×	0.018	OPN1LW
G protein-coupled receptor signaling pathway	1	36.2×	0.032	OPN1LW
signal transduction	1	16.1×	0.062	OPN1LW

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
OPN1LW	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
OPN1LW	4	Binding:4

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	OPN1LW
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)
OPN1LW	4	—

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03513718	Not specified	COMPLETED	Acute Kidney Injury After Cardiac Surgery on CPB