Gene-Disorder Association · Article
Gene
TP53 Tumor Protein P53
×
First reported
1994
Supporting publications
36
Manually curated Approved treatment annotated
Association Review
In brief The association between TP53 (Tumor Protein P53) and Squamous Cell Carcinoma, Head And Neck is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.
Sources
2
Clinical variants
49
Symptoms
9
Compounds
7
Trials
574 of 10,823 via TP53 compounds
Publications
36
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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02
Provenance
Evidence and sources 2 sources
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
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3 source summaries
A gene summary alongside the source descriptions it was distilled from.
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04
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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05
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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06
ClinVar and variant evidence
Genetic basis 49 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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07
Interventions
Therapeutics 7 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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08
Human studies
Clinical trials 10,823 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
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36 publications
Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
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10
Provenance
References & sources 18 references
Every source and publication cited across this dossier, as one numbered reference list.
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