Previous symbols: PDGFR. Aliases: JTK12, CD140b, PDGFR1.
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 |
|---|---|---|
| Bilateral Striopallidodentate Calcinosis | causative |
mechanism: Neurovascular calcium-phosphate deposition
|
| Unicentric Castleman Disease | somatic driver somatic | |
| Infantile_Myofibromatosis |
untyped
Causative
|
mechanism: Constitutive PDGFRB Signaling
|
| Inflammatory Myofibroblastic Tumor |
untyped
Causal somatic gene rearrangement (ALK-negative subset)
|
|
| Kosaki_Overgrowth_Syndrome |
untyped
Causative
|
mechanism: Constitutive PDGFRB Activation
|
| Penttinen_Premature_Aging_Syndrome |
untyped
Causative
|
mechanism: Constitutive PDGFRB Activation
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.