Aliases: BMP-9, BMP9.
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 |
|---|---|---|
| Hereditary Hemorrhagic Telangiectasia Type 5 | causative germline loss of function |
mechanism: GDF2 Variant Blocks BMP9 Proprotein Cleavage and Secretion
|
| Heritable Pulmonary Arterial Hypertension | causative |
mechanism: Impaired BMP/TGF-beta vascular signaling
subtype: Rare endothelial-signaling HPAH
scoped to subtype: Rare endothelial-signaling HPAH
|
| Idiopathic Pulmonary Arterial Hypertension | susceptibility germline | |
| Hereditary Hemorrhagic Telangiectasia |
untyped
Pathogenic Mutations
|
subtype: GDF2-related HHT-like disease
scoped to subtype: GDF2-related HHT-like disease
|
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 |
|---|---|---|---|
| telangiectasia, hereditary hemorrhagic, type 5 MONDO:0014217 | AD | Moderate 2026-09-02 |
|
| pulmonary arterial hypertension MONDO:0015924 | AD | Definitive 2022-05-26 |
Pulmonary_hypertension
not named
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.