Genopathy
Gene-Disorder Association · Article
Gene
CDKN2A
Cyclin Dependent Kinase Inhibitor 2A
Disorder
Melanoma-Pancreatic Cancer Syndrome
First reported 2002
Supporting publications 96
Key publication · gene–disorder Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome.Cancer · 2002
Key publication · disorder Responsiveness of neurogenic hearts to octopamine.Comparative biochemistry and physiology. C: Comparative pharmacology · 1975
Manually curated
Association Review

In brief

The association between CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) and Melanoma-Pancreatic Cancer Syndrome is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, causative variation, and a susceptibility locus.

Sources 4
Clinical variants 158
Symptoms 6
Compounds 0
Trials 0
Publications 96
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

4 sources

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

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03
CDKN2A

The gene

2 source summaries

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

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04
Melanoma-Pancreatic Cancer Syndrome

The disorder

5 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

6 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

158 clinical variants

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

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07
Population genetics

GWAS signals

2 GWAS phenotypes

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

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08
Mechanism overlap

Shared mechanisms

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

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09
Literature

Reading

96 publications

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

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10
Provenance

References & sources

16 references

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

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