Genopathy
Gene-Disorder Association · Article
Gene
NR1H4
Nuclear Receptor Subfamily 1 Group H Member 4
Disorder
Intrahepatic Cholestasis
First reported 2002
Supporting publications 8
Key publication · gene–disorder Lithocholic acid decreases expression of bile salt export pump through farnesoid X receptor antagonist activity.The Journal of biological chemistry · 2002
Key publication · disorder [Icterus by intrahepatic cholestasis].Medizinische Klinik · 1955
Manually curated
Association Review

In brief

The association between NR1H4 (Nuclear Receptor Subfamily 1 Group H Member 4) and Intrahepatic Cholestasis is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 3
Compounds 0
Trials 0
Publications 8
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
NR1H4

The gene

2 source summaries

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

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04
Intrahepatic Cholestasis

The disorder

7 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

8 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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