Genopathy
Gene-Disorder Association · Article
Gene
ATP7B
ATPase Copper Transporting Beta
Disorder
Wilson Disease
First reported 1993
Supporting publications 524
Key publication · gene–disorder The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.Nature genetics · 1993
Key publication · disorder INVESTIGATION OF THE AMINOACIDURIA IN WILSON'S DISEASE (HEPATOLENTICULAR DEGENERATION): DEMONSTRATION OF A DEFECT IN RENAL FUNCTION.The Journal of clinical investigation · 1950
Manually curated
Association Review

In brief

The association between ATP7B (ATPase Copper Transporting Beta) and Wilson Disease is well established and manually curated, with its 6 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 6
Clinical variants 3,021
Symptoms 128
Compounds 0
Trials 0
Publications 524
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

6 sources

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

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03
ATP7B

The gene

1 source summary

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

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04
Wilson Disease

The disorder

11 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

100 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

3,021 clinical variants

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

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07
Genomic context

Regulatory context

2 regulatory elements

GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.

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08
Mechanism overlap

Shared mechanisms

1 shared pathway

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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09
Literature

Reading

524 publications

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

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10
Provenance

References & sources

22 references

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

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