Genopathy
Gene-Disorder Association · Article
Gene
BEST1
Bestrophin 1
Disorder
Vitelliform Macular Dystrophy
First reported 1998
Supporting publications 37
Key publication · gene–disorder Identification of the gene responsible for Best macular dystrophy.Nature genetics · 1998
Key publication · disorder Electro-oculography in families with vitelliform dystrophy of the fovea. Detection of the carrier state.Archives of ophthalmology (Chicago, Ill. : 1960) · 1969
Manually curated
Association Review

In brief

The association between BEST1 (Bestrophin 1) and Vitelliform Macular Dystrophy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 37
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

1 source

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

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03
BEST1

The gene

1 source summary

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

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04
Vitelliform Macular Dystrophy

The disorder

6 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

37 publications

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

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06
Provenance

References & sources

10 references

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

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