Genopathy
Gene-Disorder Association · Article
Gene
DRD5
Dopamine Receptor D5
Disorder
Blepharospasm, Benign Essential
First reported 1956
Key publication · disorder Essential blepharospasm.Transactions of the American Ophthalmological Society · 1956
Manually curated
Association Review

In brief

The association between DRD5 (Dopamine Receptor D5) and Blepharospasm, Benign Essential is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a known molecular basis and a susceptibility locus.

Sources 1
Clinical variants 0
Symptoms 11
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
DRD5

The gene

2 source summaries

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Blepharospasm, Benign Essential

The disorder

8 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

1 clinical feature

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
07
Provenance

References & sources

5 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access