Genopathy
Gene-Disorder Association · Article
Gene
MAP2K1
Mitogen-Activated Protein Kinase Kinase 1
Disorder
Cardiofaciocutaneous Syndrome
First reported 2006
Supporting publications 30
Key publication · gene–disorder Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.Science (New York, N.Y.) · 2006
Key publication · disorder New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome.American journal of medical genetics · 1986
Manually curated
Association Review

In brief

The association between MAP2K1 (Mitogen-Activated Protein Kinase Kinase 1) and Cardiofaciocutaneous Syndrome is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 17
Symptoms 80
Compounds 0
Trials 0
Publications 30
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

3 sources

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

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03
MAP2K1

The gene

2 source summaries

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

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04
Cardiofaciocutaneous Syndrome

The disorder

7 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

79 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

17 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

1 shared pathway

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

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08
Literature

Reading

30 publications

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

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09
Provenance

References & sources

19 references

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

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