Gene-Disorder Association · Article
Gene
PDGFRA Platelet Derived Growth Factor Receptor Alpha
×
First reported
2003
Supporting publications
2
Manually curated Approved treatment annotated
Association Review
In brief The association between PDGFRA (Platelet Derived Growth Factor Receptor Alpha) and Hypereosinophilic Syndrome, Idiopathic is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording a known molecular basis.
Sources
2
Clinical variants
179
Symptoms
96
Compounds
2
Trials
0 of 619 via PDGFRA 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 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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Hypereosinophilic Syndrome, Idiopathic
The disorder 7 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 83 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 179 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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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 619 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 12 references
Every source and publication cited across this dossier, as one numbered reference list.
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