Genopathy
Gene-Disorder Association · Article
Gene
GPBAR1
G Protein-Coupled Bile Acid Receptor 1
Disorder
Cholangitis, Primary Sclerosing
First reported 1958
Key publication · disorder Primary sclerosing cholangitis; review and report of six cases.A.M.A. archives of surgery · 1958
Manually curated
Association Review

In brief

The association between GPBAR1 (G Protein-Coupled Bile Acid Receptor 1) and Cholangitis, Primary Sclerosing is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 62
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
GPBAR1

The gene

2 source summaries

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

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04
Cholangitis, Primary Sclerosing

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

55 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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