PDGFRA - dismech genes

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Anencephaly	susceptibility	mechanism: Failure of Cranial Neuropore Closure
Idiopathic Hypereosinophilic Syndrome	biomarker somatic
Diffuse Midline Glioma, H3 K27-Altered	untyped Amplification/Mutation
Gastrointestinal Stromal Tumor	untyped Somatic Activating Mutations
Hypereosinophilic syndrome	untyped Rearrangement-associated clonal driver	mechanism: Myeloid kinase-driven clonal eosinophilopoiesis
Polycystic Ovary Syndrome	untyped Risk Factor
Idiopathic Gastroparesis	no genetic record	mechanism: Smooth Muscle Contractile Protein and PDGFRA+ Cell Loss

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
congenital heart disease MONDO:0005453	AD	Limited 2024-03-11	Congenital Heart Disease not named
gastrointestinal stromal tumor MONDO:0011719	AD	Definitive 2020-01-13	Gastrointestinal Stromal Tumor untyped

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.