Gene-Disorder Association · Article
Gene
TP53Tumor Protein P53
×
First reported
1991
Supporting publications
23
Manually curatedApproved treatment annotated
Association Review
In brief
The association between TP53 (Tumor Protein P53) and Medulloblastoma is reported, with clinical genetic testing available.
Sources
1
Clinical variants
0
Symptoms
40
Compounds
1
Trials
6of 224 via TP53 compounds
Publications
23
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.
3 source summaries
A gene summary alongside the source descriptions it was distilled from.
04
Medulloblastoma
The disorder
24 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
05
Phenotype
Clinical features
34 clinical features
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
06
Mechanism overlap
Shared mechanisms
Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
07
Interventions
Therapeutics
1 compound or drug
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
08
Human studies
Clinical trials
224 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
23 publications
Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
10
Provenance
References & sources
18 references
Every source and publication cited across this dossier, as one numbered reference list.
