Gene-Disorder Association · Article
Gene
TP53 Tumor Protein P53
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First reported
1991
Supporting publications
95
Manually curated Approved treatment annotated
Association Review
In brief The association between TP53 (Tumor Protein P53) and Cervical Cancer is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.
Sources
2
Clinical variants
1
Symptoms
3
Compounds
8
Trials
223 of 12,198 via TP53 compounds
Publications
95
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 2 sources
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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Cervical Cancer
The disorder 15 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 2 clinical features
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
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ClinVar and variant evidence
Genetic basis 1 clinical variant
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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Population genetics
GWAS signals 1 GWAS phenotype
Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.
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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 8 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 12,198 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 18 references
Every source and publication cited across this dossier, as one numbered reference list.
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