Genopathy
Gene-Disorder Association · Article
Gene
GJB1
Gap Junction Protein Beta 1
Disorder
Charcot-Marie-Tooth Disease Type X
First reported 1987
Key publication · disorder Transmitter release from presynaptic terminals of electric organ: inhibition by the calcium channel antagonist omega Conus toxin.The Journal of neuroscience : the official journal of the Society for Neuroscience · 1987
Manually curated
Association Review

In brief

The association between GJB1 (Gap Junction Protein Beta 1) and Charcot-Marie-Tooth Disease Type X is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
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

1 source

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
Charcot-Marie-Tooth Disease Type X

The disorder

2 database identifiers

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

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05
Provenance

References & sources

3 references

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

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