Genopathy
Gene-Disorder Association · Article
Gene
BARD1
BRCA1 Associated RING Domain 1
Disorder
Hereditary Leiomyomatosis And Renal Cell Cancer
First reported 1958
Key publication · disorder Hereditary multiple leiomyoma of the skin.American journal of human genetics · 1958
Manually curated
Association Review

In brief

The association between BARD1 (BRCA1 Associated RING Domain 1) and Hereditary Leiomyomatosis And Renal Cell Cancer is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 25
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
BARD1

The gene

1 source summary

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

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04
Hereditary Leiomyomatosis And Renal Cell Cancer

The disorder

10 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

14 clinical features

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

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06
Provenance

References & sources

7 references

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

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