Association Review
In brief The association between CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) and Melanoma, Cutaneous Malignant 2 is well established and manually curated, with its 5 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, causative variation, and a susceptibility locus.
Sources
5
Clinical variants
65
Symptoms
3
Compounds
0
Trials
0
Publications
42
Contents
01
At a glance
Association overview A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
Request access 02
Provenance
Evidence and sources 5 sources
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
Request access 2 source summaries
A gene summary alongside the source descriptions it was distilled from.
Request access 04
Melanoma, Cutaneous Malignant 2
The disorder 5 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
Request access 05
Phenotype
Clinical features 1 clinical feature
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
Request access 06
ClinVar and variant evidence
Genetic basis 65 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
Request access 07
Population genetics
GWAS signals 1 GWAS phenotype
Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.
Request access 08
Genomic context
Regulatory context 1 regulatory element
GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.
Request access 09
Mechanism overlap
Shared mechanisms Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
Request access 42 publications
Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
Request access 11
Provenance
References & sources 18 references
Every source and publication cited across this dossier, as one numbered reference list.
Request access 
