Genopathy
Gene-Disorder Association · Article
Gene
PDGFRA
Platelet Derived Growth Factor Receptor Alpha
Disorder
Paraganglioma And Gastric Stromal Sarcoma
First reported 1998
Key publication · disorder Statistical features of human exons and their flanking regions.Human molecular genetics · 1998
Manually curated
Association Review

In brief

The association between PDGFRA (Platelet Derived Growth Factor Receptor Alpha) and Paraganglioma And Gastric Stromal Sarcoma is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 11
Compounds 0
Trials 0
Publications 0
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

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
PDGFRA

The gene

3 source summaries

A gene summary alongside the source descriptions it was distilled from.

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04
Paraganglioma And Gastric Stromal Sarcoma

The disorder

10 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

11 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Provenance

References & sources

7 references

Every source and publication cited across this dossier, as one numbered reference list.

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