rs137852744, BMPR2

N. diseases: 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
0.800 GeneticVariation UNIPROT Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension. 28507310 2017
Pulmonary Hypertension, Primary, 1
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
0.800 GeneticVariation UNIPROT Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension. 24936649 2014
Pulmonary Hypertension, Primary, 1
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
0.800 GeneticVariation UNIPROT Functional changes in pulmonary arterial endothelial cells associated with BMPR2 mutations. 25187962 2014
Pulmonary Hypertension, Primary, 1
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
0.800 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
0.800 GeneticVariation UNIPROT BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. 15965979 2005
Pulmonary Hypertension, Primary, 1
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
0.800 GeneticVariation UNIPROT BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. 12358323 2002
Pulmonary Hypertension, Primary, 1
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
0.800 GeneticVariation UNIPROT BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. 11115378 2001
Pulmonary Hypertension, Primary, 1
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
0.800 GeneticVariation UNIPROT Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. 10903931 2000
Pulmonary Hypertension, Primary, 1
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
0.800 CausalMutation CLINVAR Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. 10973254 2000
Pulmonary Hypertension, Primary, 1
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
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
Pulmonary Hypertension, Primary, 1
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
0.800 GeneticVariation UNIPROT Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. 10973254 2000