Disease: Pulmonary arterial hypertension ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 CausalMutation disease CLINVAR
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease CLINVAR
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 Biomarker disease HPO
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE Pulmonary arterial hypertension in scleroderma spectrum of disease was not associated with heterogeneous germline mutations of BMPR2. 12415595 2002
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE Pulmonary arterial hypertension is related to mutations in the bone morphogenetic protein receptor type 2, pulmonary vascular dysfunction and is increasingly recognized as a systemic disease. 30632900 2020
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease. 15358693 2004
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 Biomarker disease BEFREE Bone morphogenetic protein receptor type II C-terminus interacts with c-Src: implication for a role in pulmonary arterial hypertension. 16002577 2005
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia. 18792970 2008
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE BMPR2 mutations influence phenotype more obviously in male patients with pulmonary arterial hypertension. 22923421 2012
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 Biomarker disease BEFREE Bone morphogenetic protein receptor type II deficiency and increased inflammatory cytokine production. A gateway to pulmonary arterial hypertension. 26073741 2015
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis. 26795434 2016
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE BMPR2 mutation status influences bronchial vascular changes in pulmonary arterial hypertension. 27811071 2016
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 Biomarker disease BEFREE BMP type II receptor as a therapeutic target in pulmonary arterial hypertension. 28447104 2017
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE BMPR2 mutations and endothelial dysfunction in pulmonary arterial hypertension (2017 Grover Conference Series). 29521190 2019
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 Biomarker disease BEFREE Bmpr2 Mutant Rats Develop Pulmonary and Cardiac Characteristics of Pulmonary Arterial Hypertension. 30586714 2019
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 Biomarker disease BEFREE BMPR2-expressing bone marrow-derived endothelial-like progenitor cells alleviate pulmonary arterial hypertension in vivo. 30977250 2019
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE A novel break point of the BMPR2 gene exonic deletion in a patient with pulmonary arterial hypertension. 24132125 2013
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension. 20534176 2010
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 Biomarker disease BEFREE Autophagy contributes to BMP type 2 receptor degradation and development of pulmonary arterial hypertension. 31257577 2019
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE Characteristics of pulmonary arterial hypertension in affected carriers of a mutation located in the cytoplasmic tail of bone morphogenetic protein receptor type 2. 25429696 2015
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension. 18503968 2008
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation. 18356561 2008
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 Biomarker disease BEFREE Connectivity map analysis of nonsense-mediated decay-positive BMPR2-related hereditary pulmonary arterial hypertension provides insights into disease penetrance. 22312021 2012
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 Biomarker disease BEFREE Consequences of BMPR2 Deficiency in the Pulmonary Vasculature and Beyond: Contributions to Pulmonary Arterial Hypertension. 30149506 2018
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension. 19531247 2009