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 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 Mutations in the gene that codes for bone morphogenetic protein receptor type II (BMPR-II) are a major predisposition for the development of pulmonary arterial hypertension. 16121312 2005
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. 16429395 2006
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE These results support the hypothesis that loss-of-function mutations in BMPR2 could lead to increased pulmonary EC apoptosis, representing a possible initiating mechanism in the pathogenesis of pulmonary arterial hypertension. 16357305 2006
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension. 16717148 2006
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE Our findings, taken in context with the observed prevalence of pulmonary arterial hypertension associated with BMPR2 mutations, define converging molecular pathways that lead to the development of pulmonary hypertension, through either genetic or epigenetic loss of function of components of the BMP signaling pathway. 16840720 2006
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE These results demonstrate that the 5'-untranslated region of BMPR2 is considerably longer than previously thought, emphasizing the need to fully characterize the BMPR2 promoter and the importance of analyzing noncoding regions in patients with pulmonary arterial hypertension who are negative for mutations within the coding region and intron-exon junctions. 17641158 2007
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 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
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 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 Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension. 19531247 2009
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 AlteredExpression disease BEFREE Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele. 19206171 2009
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension. 19223935 2009
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 AlteredExpression disease BEFREE Furthermore, the recent finding that mutations in BMPR2 cause familial forms of pulmonary arterial hypertension and that BMPR2 expression is decreased in secondary forms of PH strongly implicate BMP signaling in the underlying pathophysiology of PH. 20347789 2010
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 GeneticVariation disease BEFREE Whether the ET-1 cascade from non-vascular sources (inflammatory cells) also contributes to pulmonary artery hypertension (PAH) and in particular to heritable PAH (HPAH) with known bone morphogenetic protein type 2 receptor (BMPR2) mutations is not known. 20562228 2010
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations. 21801371 2011
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 GeneticVariation disease BEFREE BMPR2 mutations influence phenotype more obviously in male patients with pulmonary arterial hypertension. 22923421 2012