rs748230358, BMPR2

N. diseases: 1
Disease: Pulmonary Hypertension, Primary, 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pulmonary Hypertension, Primary, 1
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
0.700 CausalMutation CLINVAR Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients. 21737554 2012
Pulmonary Hypertension, Primary, 1
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
0.700 CausalMutation CLINVAR Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele. 19206171 2009
Pulmonary Hypertension, Primary, 1
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
0.700 CausalMutation CLINVAR Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. 16429395 2006
Pulmonary Hypertension, Primary, 1
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
0.700 CausalMutation CLINVAR Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension. 16717148 2006
Pulmonary Hypertension, Primary, 1
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
0.700 CausalMutation CLINVAR BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. 11115378 2001