rs137852750
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.
|
28507310 |
2017 |
rs137852750
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional changes in pulmonary arterial endothelial cells associated with BMPR2 mutations.
|
25187962 |
2014 |
rs137852750
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.
|
24936649 |
2014 |
rs137852750
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension.
|
20534176 |
2010 |
rs137852750
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension.
|
18159113 |
2008 |
rs137852750
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension.
|
15965979 |
2005 |
rs137852750
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives.
|
12358323 |
2002 |
rs137852750
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.
|
11115378 |
2001 |
rs137852750
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.
|
11115378 |
2001 |
rs137852750
|
|
|
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 |
rs137852750
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension.
|
10973254 |
2000 |
rs137852750
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene.
|
10903931 |
2000 |
rs137852750
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|