GJB1 and Charcot-Marie-Tooth Disease: Association Evidence

At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Provenance

2 sources

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

GJB1

2 source summaries

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

Charcot-Marie-Tooth Disease

8 database identifiers

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

ClinVar and variant evidence

377 clinical variants

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

Genomic context

1 regulatory element

GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.

Literature

81 publications

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

Provenance

15 references

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