Genopathy
Gene-Disorder Association · Article
Gene
DNAJB6
DnaJ Heat Shock Protein Family (Hsp40) Member B6
Disorder
Dnajb6-Related Distal Myopathy
First reported 2022
Supporting publications 2
Key publication · disorder A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy.Journal of human genetics · 2022
Manually curated
Association Review

In brief

The association between DNAJB6 (DnaJ Heat Shock Protein Family (Hsp40) Member B6) and Dnajb6-Related Distal Myopathy is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 2
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
DNAJB6

The gene

1 source summary

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

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04
Dnajb6-Related Distal Myopathy

The disorder

1 database identifier

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

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05
Literature

Reading

2 publications

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

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06
Provenance

References & sources

4 references

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

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