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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8690281
Species: Homo sapiens
RGD Object: Variant
Symbol: CV140231
Name: NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn)
Acc ID: HP:0002092
Term: Pulmonary arterial hypertension
Definition: Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Definition Source(s): https://orcid.org/0000-0002-0736-9199
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CV140231 IAGP 8554872ClinVarClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:16429395 PMID:16717148 PMID:18503968 PMID:19844076 PMID:20096498 PMID:21070126 PMID:21228398 PMID:22995991 PMID:24033266 PMID:24936649 PMID:25741868 PMID:28492532
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