Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852749
rs137852749
BMPR2
0.800 GeneticVariation UNIPROT Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension. 28507310

2017
dbSNP: rs137852749
rs137852749
BMPR2
0.800 GeneticVariation UNIPROT Functional changes in pulmonary arterial endothelial cells associated with BMPR2 mutations. 25187962

2014
dbSNP: rs137852749
rs137852749
BMPR2
0.800 GeneticVariation UNIPROT Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension. 24936649

2014
dbSNP: rs137852749
rs137852749
BMPR2
A 0.800 CausalMutation CLINVAR Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension. 23298310

2013
dbSNP: rs137852749
rs137852749
BMPR2
A 0.800 CausalMutation CLINVAR Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients. 21737554

2012
dbSNP: rs137852749
rs137852749
BMPR2
A 0.800 CausalMutation CLINVAR Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations. 21801371

2011
dbSNP: rs137852749
rs137852749
BMPR2
A 0.800 CausalMutation CLINVAR [Study of the BMPR2 gene in patients with pulmonary arterial hypertension]. 20096498

2010
dbSNP: rs137852749
rs137852749
BMPR2
A 0.800 CausalMutation CLINVAR Genetics and genomics of pulmonary arterial hypertension. 19555857

2009
dbSNP: rs137852749
rs137852749
BMPR2
A 0.800 CausalMutation CLINVAR Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. 16429395

2006
dbSNP: rs137852749
rs137852749
BMPR2
A 0.800 CausalMutation CLINVAR BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. 15965979

2005
dbSNP: rs137852749
rs137852749
BMPR2
0.800 GeneticVariation UNIPROT BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. 15965979

2005
dbSNP: rs137852749
rs137852749
BMPR2
0.800 GeneticVariation UNIPROT BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. 12358323

2002
dbSNP: rs137852749
rs137852749
BMPR2
0.800 GeneticVariation UNIPROT BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. 11115378

2001
dbSNP: rs137852749
rs137852749
BMPR2
0.800 GeneticVariation UNIPROT Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. 11015450

2000
dbSNP: rs137852749
rs137852749
BMPR2
0.800 GeneticVariation UNIPROT Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. 10973254

2000
dbSNP: rs137852749
rs137852749
BMPR2
A 0.800 CausalMutation CLINVAR Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. 10903931

2000
dbSNP: rs137852749
rs137852749
BMPR2
0.800 GeneticVariation UNIPROT Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. 10903931

2000