Genopathy
Gene-Disorder Association · Article
Gene
SLC25A13
Solute Carrier Family 25 Member 13
Disorder
Citrin Deficiency, Neonatal Or Infantile Onset
First reported 2010
Supporting publications 11
Key publication · gene–disorder [Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency].Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2010
Key publication · disorder Ethical concerns in community mental health.American journal of community psychology · 1977
Manually curated
Association Review

In brief

The association between SLC25A13 (Solute Carrier Family 25 Member 13) and Citrin Deficiency, Neonatal Or Infantile Onset is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 85
Symptoms 67
Compounds 0
Trials 0
Publications 11
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

5 sources

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
Citrin Deficiency, Neonatal Or Infantile Onset

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

53 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

85 clinical variants

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

11 publications

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

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09
Provenance

References & sources

16 references

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

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