Previous symbols: PPH1. Aliases: BRK-3, T-ALK, BMPR3, BMPR-II.
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 |
|---|---|---|
| Eisenmenger Syndrome | susceptibility germline |
dataset: geo:GSE126322
|
| Heritable Pulmonary Arterial Hypertension | causative |
mechanism: Impaired BMP/TGF-beta vascular signaling
subtype: BMPR2-related HPAH
scoped to subtype: BMPR2-related HPAH
|
| Idiopathic Pulmonary Arterial Hypertension | susceptibility germline | |
| Drug- or Toxin-Induced Pulmonary Arterial Hypertension |
untyped
Predisposing
|
|
| Pulmonary_hypertension |
untyped
Loss-of-function variants central in heritable and idiopathic PAH
|
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 2023-09-18 |
Congenital Heart Disease
not named
|
| pulmonary arterial hypertension MONDO:0015924 | AD | Definitive 2020-12-07 |
Pulmonary_hypertension
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.