Genopathy
Gene-Disorder Association · Article
Gene
GJB6
Gap Junction Protein Beta 6
Disorder
Sensorineural Hearing Loss
First reported 2004
Supporting publications 9
Key publication · gene–disorder Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.The Journal of investigative dermatology · 2004
Key publication · disorder Perceptive deafness associated with severe neonatal jaundice; a report of 16 cases.The Journal of laryngology and otology · 1950
Manually curated
Association Review

In brief

The association between GJB6 (Gap Junction Protein Beta 6) and Sensorineural Hearing Loss is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 1
Compounds 0
Trials 0
Publications 9
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
GJB6

The gene

2 source summaries

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

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04
Sensorineural Hearing Loss

The disorder

12 database identifiers

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

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05
Literature

Reading

9 publications

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

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06
Provenance

References & sources

12 references

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

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