Genopathy
Gene-Disorder Association · Article
Gene
GJB1
Gap Junction Protein Beta 1
Disorder
Peripheral Nervous System Disease
First reported 1950
Key publication · disorder The treatment of peripheral neuropathy in diabetes mellitus.The American journal of the medical sciences · 1950
Manually curated
Association Review

In brief

The association between GJB1 (Gap Junction Protein Beta 1) and Peripheral Nervous System Disease is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 5
Symptoms 13
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.

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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
GJB1

The gene

2 source summaries

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

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04
Peripheral Nervous System Disease

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
ClinVar and variant evidence

Genetic basis

5 clinical variants

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

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06
Provenance

References & sources

5 references

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

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