Genopathy
Gene-Disorder Association · Article
Gene
SLC25A21
Solute Carrier Family 25 Member 21
Disorder
Mitochondrial Dna Depletion Syndrome 18
First reported 1998
Supporting publications 1
Key publication · disorder Disorders of the mitochondria.Seminars in liver disease · 1998
Manually curated
Association Review

In brief

The association between SLC25A21 (Solute Carrier Family 25 Member 21) and Mitochondrial Dna Depletion Syndrome 18 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 6
Symptoms 37
Compounds 0
Trials 0
Publications 1
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

4 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
SLC25A21

The gene

1 source summary

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

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04
Mitochondrial Dna Depletion Syndrome 18

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
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

6 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

1 publication

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

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09
Provenance

References & sources

7 references

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

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