Gene-Disorder Association · Article
Gene
PDGFRB Platelet Derived Growth Factor Receptor Beta
×
First reported
2002
Supporting publications
2
Manually curated Approved treatment annotated
Association Review
In brief The association between PDGFRB (Platelet Derived Growth Factor Receptor Beta) and Gastrointestinal Stromal Tumor is reported, with clinical genetic testing available.
Sources
1
Clinical variants
0
Symptoms
29
Compounds
6
Trials
144 of 2,073 via PDGFRB compounds
Publications
2
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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Gastrointestinal Stromal Tumor
The disorder 14 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 22 clinical features
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 6 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 2,073 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 11 references
Every source and publication cited across this dossier, as one numbered reference list.
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