Genopathy
Gene-Disorder Association · Article
Gene
PTPN11
Protein Tyrosine Phosphatase Non-Receptor Type 11
Disorder
Heart Disease
First reported 2005
Supporting publications 11
Key publication · gene–disorder PTPN11 mutations play a minor role in isolated congenital heart disease.American journal of medical genetics. Part A · 2005
Key publication · disorder Statistical studies of heart disease; mortality from eight specific forms of heart disease among white persons.Public health reports (Washington, D.C. : 1896) · 1950
Manually curated
Association Review

In brief

The association between PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) and Heart Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 6
Compounds 0
Trials 0
Publications 11
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
PTPN11

The gene

2 source summaries

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

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04
Heart Disease

The disorder

18 database identifiers

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

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05
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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06
Literature

Reading

11 publications

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

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07
Provenance

References & sources

15 references

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

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