Genopathy
Gene-Disorder Association · Article
Gene
ATP1A3
ATPase Na+/K+ Transporting Subunit Alpha 3
Disorder
Atp1a3-Related Disorder
First reported 1991
Key publication · disorder Immunofluorescent localization of three Na,K-ATPase isozymes in the rat central nervous system: both neurons and glia can express more than one Na,K-ATPase.The Journal of neuroscience : the official journal of the Society for Neuroscience · 1991
Association Review

In brief

The association between ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3) and Atp1a3-Related Disorder is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 62
Symptoms 0
Compounds 0
Trials 0
Publications 0
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
ATP1A3

The gene

2 source summaries

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

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04
Atp1a3-Related Disorder

The disorder

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

62 clinical variants

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

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06
Provenance

References & sources

3 references

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

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