Genopathy
Gene-Disorder Association · Article
Gene
DNAJB11
DnaJ Heat Shock Protein Family (Hsp40) Member B11
Disorder
Autosomal Dominant Polycystic Kidney Disease
First reported 1972
Supporting publications 1
Key publication · disorder Adult polycystic kidney disease: studies of the defect in urine concentration.Kidney international · 1972
Manually curated
Association Review

In brief

The association between DNAJB11 (DnaJ Heat Shock Protein Family (Hsp40) Member B11) and Autosomal Dominant Polycystic Kidney Disease is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 1
Symptoms 26
Compounds 0
Trials 0
Publications 1
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

3 sources

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

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03
DNAJB11

The gene

1 source summary

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

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04
Autosomal Dominant Polycystic Kidney Disease

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
Phenotype

Clinical features

26 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

1 clinical variant

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

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

1 publication

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

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09
Provenance

References & sources

7 references

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

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