Genopathy
Gene-Disorder Association · Article
Gene
DRD5
Dopamine Receptor D5
Disorder
Blepharospasm
First reported 2002
Supporting publications 4
Key publication · gene–disorder A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm.Neurology · 2002
Key publication · disorder [Three cases of favourable results of surgery in intense blepharospasm; comments on paradoxal behavior of the orbicularis of the eyelids].Revue neurologique · 1950
Manually curated
Association Review

In brief

The association between DRD5 (Dopamine Receptor D5) and Blepharospasm is a manually-curated gene–disease association, supported by 2 contributing sources, 1 of them expert-curated.

Sources 2
Clinical variants 0
Symptoms 6
Compounds 0
Trials 0
Publications 4
01
At a glance

Association overview

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

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02
Provenance

Evidence and sources

2 sources

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

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03
DRD5

The gene

2 source summaries

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

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04
Blepharospasm

The disorder

7 database identifiers

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

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05
Literature

Reading

4 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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06
Provenance

References & sources

9 references

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

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