Genopathy
Gene-Disorder Association · Article
Gene
GJB2
Gap Junction Protein Beta 2
Disorder
Autosomal Dominant Nonsyndromic Hearing Loss 3a
First reported 1997
Supporting publications 107
Key publication · disorder Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.Nature · 1997
Manually curated
Association Review

In brief

The association between GJB2 (Gap Junction Protein Beta 2) and Autosomal Dominant Nonsyndromic Hearing Loss 3a is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 177
Symptoms 0
Compounds 0
Trials 0
Publications 107
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
GJB2

The gene

2 source summaries

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

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04
Autosomal Dominant Nonsyndromic Hearing Loss 3a

The disorder

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

177 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

107 publications

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

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07
Provenance

References & sources

12 references

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

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