Genopathy
Gene-Disorder Association · Article
Gene
SLC25A13
Solute Carrier Family 25 Member 13
Disorder
Intrahepatic Cholestasis
First reported 2002
Supporting publications 29
Key publication · gene–disorder Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation.European journal of pediatrics · 2002
Key publication · disorder [Icterus by intrahepatic cholestasis].Medizinische Klinik · 1955
Manually curated
Association Review

In brief

The association between SLC25A13 (Solute Carrier Family 25 Member 13) and Intrahepatic Cholestasis is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 3
Compounds 0
Trials 0
Publications 29
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
SLC25A13

The gene

1 source summary

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

29 publications

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

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06
Provenance

References & sources

11 references

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

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