Genopathy
Gene-Disorder Association · Article
Gene
ATP7A
ATPase Copper Transporting Alpha
Disorder
Connective Tissue Disease
First reported 1996
Supporting publications 1
Key publication · gene–disorder A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome.Human molecular genetics · 1996
Key publication · disorder [On the mechanism of cortisone inhibition of connective tissue proliferation].Experientia · 1950
Manually curated
Association Review

In brief

The association between ATP7A (ATPase Copper Transporting Alpha) and Connective Tissue Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 5
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

1 source

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

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03
ATP7A

The gene

1 source summary

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

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04
Connective Tissue Disease

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
Literature

Reading

1 publication

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

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06
Provenance

References & sources

4 references

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

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