Gene-Disorder Association · Article
Gene
CDKN2A Cyclin Dependent Kinase Inhibitor 2A
×
First reported
1995
Supporting publications
19
Manually curated Approved treatment annotated
Association Review
In brief The association between CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) and Squamous Cell Carcinoma, Head And Neck is reported, with clinical genetic testing available.
Sources
1
Clinical variants
0
Symptoms
9
Compounds
2
Trials
197 of 3,664 via CDKN2A compounds
Publications
19
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.
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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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A gene summary alongside the source descriptions it was distilled from.
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Squamous Cell Carcinoma, Head And Neck
The disorder 32 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
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Phenotype
Clinical features 1 clinical feature
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
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Mechanism overlap
Shared mechanisms Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
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Interventions
Therapeutics 2 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 3,664 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
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Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
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Provenance
References & sources 16 references
Every source and publication cited across this dossier, as one numbered reference list.
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