Genopathy
Gene-Disorder Association · Article
Gene
MAPK1
Mitogen-Activated Protein Kinase 1
Disorder
Heart Disease
First reported 1950
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
Association Review

In brief

The association between MAPK1 (Mitogen-Activated Protein Kinase 1) and Heart Disease is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 4
Symptoms 6
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
MAPK1

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
ClinVar and variant evidence

Genetic basis

4 clinical variants

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

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06
Mechanism overlap

Shared mechanisms

4 shared pathways

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

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07
Provenance

References & sources

8 references

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

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