rs1085307253, BMPR2

N. diseases: 3
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 Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. 10903931 2000
Pulmonary arterial hypertension
CUI: C2973725
Disease: Pulmonary arterial hypertension
0.010 GeneticVariation BEFREE The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension. 23139147 2014
Idiopathic pulmonary arterial hypertension
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
0.010 GeneticVariation BEFREE The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension. 23139147 2014