Gene-Disorder Association · Article
Gene
CDKN2ACyclin Dependent Kinase Inhibitor 2A
×
First reported
1995
Supporting publications
10
Manually curatedApproved treatment annotated
Association Review
In brief
The association between CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) and Esophageal Cancer is reported, with clinical genetic testing available.
Sources
1
Clinical variants
0
Symptoms
17
Compounds
2
Trials
169of 5,037 via CDKN2A compounds
Publications
10
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
02
Provenance
Evidence and sources
1 source
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
2 source summaries
A gene summary alongside the source descriptions it was distilled from.
04
Esophageal Cancer
The disorder
40 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
05
Phenotype
Clinical features
1 clinical feature
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
06
Population genetics
GWAS signals
1 GWAS phenotype
Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.
07
Interventions
Therapeutics
2 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
08
Human studies
Clinical trials
5,037 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
10 publications
Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
10
Provenance
References & sources
17 references
Every source and publication cited across this dossier, as one numbered reference list.
