Genopathy
Gene-Disorder Association · Article
Gene
ATP9A
ATPase Phospholipid Transporting 9A
Disorder
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
First reported 1984
Supporting publications 3
Key publication · disorder Adverse pregnancy outcome: sensitive periods, types of adverse outcomes, and relationships with critical exposure periods.Progress in clinical and biological research · 1984
Manually curated
Association Review

In brief

The association between ATP9A (ATPase Phospholipid Transporting 9A) and Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and likely-pathogenic variants.

Sources 2
Clinical variants 11
Symptoms 55
Compounds 0
Trials 0
Publications 3
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

2 sources

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

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03
ATP9A

The gene

1 source summary

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

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04
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities

The disorder

6 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

36 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

11 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

3 publications

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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