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 Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. 26387786 2015
Pulmonary Hypertension, Primary, 1
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
0.700 CausalMutation CLINVAR TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. 23592887 2013
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 Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations. 21801371 2011
Pulmonary Hypertension, Primary, 1
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
0.700 CausalMutation CLINVAR Identities and frequencies of BMPR2 mutations in Chinese patients with idiopathic pulmonary arterial hypertension. 20002458 2010
Pulmonary Hypertension, Primary, 1
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
0.700 CausalMutation CLINVAR Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension. 20534176 2010
Pulmonary Hypertension, Primary, 1
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
0.700 CausalMutation CLINVAR Genetics and genomics of pulmonary arterial hypertension. 19555857 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 BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension. 15146475 2004
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
Pulmonary Hypertension, Primary, 1
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
0.700 CausalMutation CLINVAR 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
0.700 CausalMutation CLINVAR Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. 10973254 2000