Genopathy
Gene-Disorder Association · Article
Gene
PDGFRB
Platelet Derived Growth Factor Receptor Beta
Manually curated
Association Review

In brief

The association between PDGFRB (Platelet Derived Growth Factor Receptor Beta) and Myeloproliferative Disorder, Chronic, With Eosinophilia is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants.

Sources 3
Clinical variants 26
Symptoms 3
Compounds 0
Trials 0
Publications 3
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

3 sources

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

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03
PDGFRB

The gene

2 source summaries

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

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04
Myeloproliferative Disorder, Chronic, With Eosinophilia

The disorder

9 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

3 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

26 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Literature

Reading

3 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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08
Provenance

References & sources

10 references

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

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