Genopathy
Gene-Disorder Association · Article
Gene
SLC25A13
Solute Carrier Family 25 Member 13
Disorder
Citrin Deficiency, Adolescent Or Adult Onset
First reported 1999
Supporting publications 97
Key publication · gene–disorder The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.Nature genetics · 1999
Key publication · disorder Biochemical Action of CDAA, a New Herbicide.Science (New York, N.Y.) · 1956
Manually curated
Association Review

In brief

The association between SLC25A13 (Solute Carrier Family 25 Member 13) and Citrin Deficiency, Adolescent Or Adult Onset is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 750
Symptoms 29
Compounds 0
Trials 0
Publications 97
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

3 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, Adolescent Or Adult Onset

The disorder

8 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

17 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

750 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

97 publications

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

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09
Provenance

References & sources

14 references

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

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