Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 CausalMutation disease CLINVAR Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. 29650961 2018
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 GeneticVariation disease UNIPROT Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension. 28507310 2017
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 Biomarker disease GENOMICS_ENGLAND Genetic counselling in a national referral centre for pulmonary hypertension. 26699722 2016
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 CausalMutation disease CLINVAR 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
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 CausalMutation disease CLINVAR Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. 26387786 2015
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 CausalMutation disease CLINVAR De novo mutations in the BMPR2 gene in patients with heritable pulmonary arterial hypertension. 25612240 2015
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 GeneticVariation disease UNIPROT Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension. 24936649 2014
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 CausalMutation disease CLINVAR The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension. 23139147 2014
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 GeneticVariation disease UNIPROT Functional changes in pulmonary arterial endothelial cells associated with BMPR2 mutations. 25187962 2014
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 Biomarker disease CTD_human The flavonoid quercetin reverses pulmonary hypertension in rats. 25460361 2014
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 CausalMutation disease CLINVAR Pulmonary arterial hypertension preceding idiopathic pulmonary fibrosis in a BMPR2 mutation positive patient. 24591673 2014
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 CausalMutation disease CLINVAR Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension. 23298310 2013
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 CausalMutation disease CLINVAR TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. 23592887 2013
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 CausalMutation disease CLINVAR Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension. 23579436 2013
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 CausalMutation disease CLINVAR Bone morphogenetic protein receptor type 2 mutations, clinical phenotypes and outcomes of Japanese patients with sporadic or familial pulmonary hypertension. 23675998 2013
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 CausalMutation disease CLINVAR A novel break point of the BMPR2 gene exonic deletion in a patient with pulmonary arterial hypertension. 24132125 2013
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 CausalMutation disease CLINVAR Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers. 22632830 2012
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 CausalMutation disease CLINVAR Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients. 21737554 2012
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 CausalMutation disease CLINVAR Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations. 21801371 2011
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 CausalMutation disease CLINVAR Identities and frequencies of BMPR2 mutations in Chinese patients with idiopathic pulmonary arterial hypertension. 20002458 2010
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 CausalMutation disease CLINVAR [Study of the BMPR2 gene in patients with pulmonary arterial hypertension]. 20096498 2010
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 CausalMutation disease CLINVAR A novel BMPR2 mutation associated with pulmonary arterial hypertension in an octogenarian. 20496075 2010
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 CausalMutation disease CLINVAR Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension. 20095988 2010
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 CausalMutation disease CLINVAR Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension. 20534176 2010
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		0.700 CausalMutation disease CLINVAR Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele. 19206171 2009