Disease: Idiopathic pulmonary hypertension ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.600 GeneticVariation disease BEFREE BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension. 16429403 2006
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.600 GeneticVariation disease BEFREE This issue will become increasingly important, as clinical testing for BMPR2 mutations is now available for the evaluation of patients and family members with HPAH and IPAH. 19634078 2009
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.600 GeneticVariation disease BEFREE The finding of PVOD associated with a BMPR2 mutation reveals a possible pathogenetic connection with PPH. 12446270 2003
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.600 GeneticVariation disease BEFREE Exome capture and sequencing was performed on genomic DNA isolated from 12 unrelated patients with IPAH lacking BMPR2 mutations. 24702692 2014
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.600 GeneticVariation disease BEFREE In a cohort of Swiss patients with IPAH (n = 16) and CTEPH (n = 16), and in 24 controls with left heart disease without PH, polymorphisms in the BMPR2, 5-HHT, 5-HTR-2A and eNOS genes were analyzed and correlated with various clinical, functional and hemodynamic parameters. 19844076 2010
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.600 GeneticVariation disease BEFREE Pathogenic BMPR2 mutations were identified in 8 of 72 (11.1%) patients with IPAH and 6 of 9 (66.7%) patients with HPAH. 27884767 2017
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.600 GeneticVariation disease BEFREE We describe a case of a 35-year-old woman with idiopathic pulmonary arterial hypertension (IPAH) and a novel BMPR2 mutation, who underwent a successful lung transplantation. 27537724 2016
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.600 GeneticVariation disease BEFREE The sporadic form of PPH is associated with germline mutations of the gene encoding the receptor protein BMPR-II in at least 26% of cases. 11015450 2000
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.600 GeneticVariation disease BEFREE After adjustment for clinical features, a BMPR2 mutation and haemodynamics, a lower NOx level remained an increased risk of mortality.Patients with IPAH had lower levels of plasma NOx, which correlated inversely with mPAP, PVR and survival. 27660508 2016
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.600 GeneticVariation disease BEFREE The true prevalence of BMPR2 mutations in IPAH is unknown, with reports ranging from 10% to 40% of patients. 17338927 2007
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.600 GeneticVariation disease BEFREE Bone morphogenetic protein receptor type 2 (BMPR-2) gene mutations have been identified to cause IPAH. 18097622 2008
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.600 GeneticVariation disease BEFREE BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. 15965979 2005
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.600 GeneticVariation disease BEFREE Mutations in this gene, now known to be bone morphogenetic protein receptor 2 (BMPR2), can cause PPH. 12708784 2003
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.600 Biomarker disease MGD To understand the role of BMPR2 in the development of IPAH, we examined the phenotype of BMPR2(+/-) mice and their response to inflammatory stress. 16027259 2005
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.600 Biomarker disease MGD Selective enhancement of endothelial BMPR-II with BMP9 reverses pulmonary arterial hypertension. 26076038 2015
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.600 Biomarker disease BEFREE Mutations in the bone morphogenetic protein (BMP) receptor-2 (BMPR2) have been found in patients with idiopathic pulmonary arterial hypertension (IPAH); however, the mechanistic link between loss of BMPR2 signaling and the development of pulmonary arterial hypertension is unclear. 16357305 2006
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.600 Biomarker disease BEFREE This study identifies the first function of the BMPR-II tail domain and suggests that the deregulation of actin dynamics may contribute to the etiology of PPH. 12963706 2003
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.600 Biomarker disease GENOMICS_ENGLAND Genetic counselling in a national referral centre for pulmonary hypertension. 26699722 2016