Genopathy
Gene-Disorder Association · Article
Gene
ATP6V0A4
ATPase H+ Transporting V0 Subunit A4
Disorder
Autosomal Recessive Distal Renal Tubular Acidosis
First reported 2001
Supporting publications 18
Key publication · gene–disorder Molecular cloning and characterization of Atp6n1b: a novel fourth murine vacuolar H+-ATPase a-subunit gene.The Journal of biological chemistry · 2001
Key publication · disorder Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.Proceedings of the National Academy of Sciences of the United States of America · 1998
Manually curated
Association Review

In brief

The association between ATP6V0A4 (ATPase H+ Transporting V0 Subunit A4) and Autosomal Recessive Distal Renal Tubular Acidosis is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 107
Symptoms 0
Compounds 0
Trials 0
Publications 18
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
ATP6V0A4

The gene

2 source summaries

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

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04
Autosomal Recessive Distal Renal Tubular Acidosis

The disorder

5 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
ClinVar and variant evidence

Genetic basis

107 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Literature

Reading

18 publications

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

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07
Provenance

References & sources

14 references

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

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