Genopathy
Gene-Disorder Association · Article
Gene
OCA2
OCA2 Melanosomal Transmembrane Protein
Disorder
Albinism
First reported 2005
Supporting publications 2
Key publication · gene–disorder Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.European journal of human genetics : EJHG · 2005
Key publication · disorder [Some mutations affecting the eyes, collected as examples in the canton of Neuchatel and the Jura Bernois (congenital aniridia, universal albinism, congenital anophthalmos, total achromatopsia, oligophrenia associated with keratoconus, with ectopy of the crystalline, with congenital cataract and with atrophy of the optic nerve)].Bulletin der Schweizerischen Akademie der Medizinischen Wissenschaften · 1950
Manually curated
Association Review

In brief

The association between OCA2 (OCA2 Melanosomal Transmembrane Protein) and Albinism is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 4
Symptoms 0
Compounds 0
Trials 0
Publications 2
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
OCA2

The gene

1 source summary

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

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04
Albinism

The disorder

1 database identifier

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

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05
ClinVar and variant evidence

Genetic basis

4 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Literature

Reading

2 publications

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

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07
Provenance

References & sources

5 references

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

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