Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Familial primary pulmonary hypertension
0.700 Biomarker disease BEFREE Ectopic FBN1 deposits were also found in proximity to contractile intimal cells in pulmonary artery lesions of BMPR2-deficient heritable PAH (HPAH) patients. 31826007 2019
Familial primary pulmonary hypertension
0.700 GeneticVariation disease BEFREE Heritable pulmonary arterial hypertension (PAH) is one such disorder characterised by rare mutations mostly occurring in the bone morphogenetic protein receptor type 2 (<i>BMPR2</i>) gene and a wide heterogeneity of penetrance modifier mechanisms. 30894412 2019
Familial primary pulmonary hypertension
0.700 GeneticVariation disease BEFREE Monoallelic mutations in the gene encoding bone morphogenetic protein receptor 2 ( Bmpr2) are the main genetic risk factor for heritable pulmonary arterial hypertension (PAH) with incomplete penetrance. 30586714 2019
Familial primary pulmonary hypertension
0.700 GeneticVariation disease BEFREE Pathogenic BMPR2 mutations were detected most frequently in 32 (17.9%) IPAH and 5 (41.7%) heritable PAH (HPAH) patients by sequencing, and 12 BMPR2 CNVs called from the panel data were all successfully confirmed by MLPA analysis. 29743074 2018
Familial primary pulmonary hypertension
0.700 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
Familial primary pulmonary hypertension
0.700 GeneticVariation disease BEFREE Heterozygous germ-line mutations in the bone morphogenetic protein type-II receptor (BMPR-II) gene underlie heritable pulmonary arterial hypertension (HPAH). 28084316 2017
Familial primary pulmonary hypertension
0.700 AlteredExpression disease BEFREE Native pulmonary arterial and induced pluripotent stem cell-derived endothelial cells from patients with idiopathic and heritable pulmonary arterial hypertension compared with control subjects showed a similar reduction in adhesion, migration, survival, and tube formation, and decreased BMPR2 and downstream signaling and collagen IV expression. 27779452 2017
Familial primary pulmonary hypertension
0.700 GeneticVariation disease BEFREE Heritable pulmonary arterial hypertension (PAH) is an autosomal dominant disease with incomplete penetrance because of mutations in bone morphogenetic protein receptor-II (BMPR2), activin A receptor type II-like kinase 1, endoglin, caveolin-1, potassium channel subfamily K, member 3, and T-box gene 4 genes. 28661905 2017
Familial primary pulmonary hypertension
0.700 Biomarker disease GENOMICS_ENGLAND Genetic counselling in a national referral centre for pulmonary hypertension. 26699722 2016
Familial primary pulmonary hypertension
0.700 GeneticVariation disease BEFREE Idiopathic pulmonary arterial hypertension (IPAH) is usually without an identified genetic cause, despite clinical and molecular similarity to bone morphogenetic protein receptor type 2 mutation-associated heritable pulmonary arterial hypertension (PAH). 26926454 2016
Familial primary pulmonary hypertension
0.700 GeneticVariation disease BEFREE Two family members who carried the BMPR2 mutation only did not develop manifest HPAH. 27809840 2016
Familial primary pulmonary hypertension
0.700 Biomarker disease BEFREE Mutations in the bone morphogenetic protein receptor (BMPR2) gene have been observed in 70 % of patients with heritable pulmonary arterial hypertension (HPAH) and in 11-40 % with idiopathic PAH (IPAH). 27816994 2016
Familial primary pulmonary hypertension
0.700 GeneticVariation disease BEFREE De novo mutations in the BMPR2 gene in patients with heritable pulmonary arterial hypertension. 25612240 2015
Familial primary pulmonary hypertension
0.700 GeneticVariation disease BEFREE To explore this, we isolated PECs from mice carrying heterozygous null Bmpr2 mutations (Bmpr2(+/-)) similar to those found in the majority of HPAH patients. 25411245 2015
Familial primary pulmonary hypertension
0.700 GeneticVariation disease BEFREE Mutations in BMPR2 encoding bone morphogenetic protein receptor type 2 (BMPRII) is the main genetic risk factor for heritable pulmonary arterial hypertension (PAH). 25429696 2015
Familial primary pulmonary hypertension
0.700 GeneticVariation disease BEFREE Mutations in bone morphogenetic protein receptor type II (BMPR-II) underlie most cases of heritable pulmonary arterial hypertension (PAH). 26073741 2015
Familial primary pulmonary hypertension
0.700 Biomarker disease CTD_human The flavonoid quercetin reverses pulmonary hypertension in rats. 25460361 2014
Familial primary pulmonary hypertension
0.700 GeneticVariation disease BEFREE Heterozygous germline mutations of the bone morphogenetic protein type II receptor (BMPR2) gene BMPR2 are the most important predisposing factors for heritable pulmonary arterial hypertension. 24728306 2014
Familial primary pulmonary hypertension
0.700 GermlineCausalMutation disease ORPHANET The genetics of pulmonary arterial hypertension. 24951767 2014
Familial primary pulmonary hypertension
0.700 GeneticVariation disease BEFREE Identification of a new intronic BMPR2-mutation and early diagnosis of heritable pulmonary arterial hypertension in a large family with mean clinical follow-up of 12 years. 24621962 2014
Familial primary pulmonary hypertension
0.700 GeneticVariation disease BEFREE Site-directed mutagenesis reveals that BMPR2 is uniquely glycosylated near its ligand binding domain and at a position that is mutated in patients with heritable pulmonary arterial hypertension. 24337809 2014
Familial primary pulmonary hypertension
0.700 GeneticVariation disease BEFREE HPAH animal models are insulin resistant, and cells with BMPR2 mutation have impaired fatty acid oxidation, but whether these findings affect the RV in HPAH is unknown. 24274756 2014
Familial primary pulmonary hypertension
0.700 GeneticVariation disease BEFREE Here, we tested ataluren in lung- or blood-derived cells from patients with HPAH with nonsense mutations in BMPR2 (n = 6) or SMAD9 (n = 1). 23590310 2013
Familial primary pulmonary hypertension
0.700 Biomarker disease BEFREE Here, we characterize the expression and trafficking of an HPAH-associated NMD negative BMPR2 mutation that results in an in-frame deletion of BMPR2 EXON2 (BMPR2ΔEx2) in HPAH patient-derived lymphocytes and in pulmonary endothelial cells (PECs) from mice carrying the same in-frame deletion of Exon 2 (Bmpr2 (ΔEx2/+) mice). 24224048 2013
Familial primary pulmonary hypertension
0.700 Biomarker disease BEFREE Germline mutations in the gene coding bone morphogenetic receptor type 2 (BMPR2) are detectable in the majority of cases of HPAH, and in a small proportion of cases of idiopathic pulmonary arterial hypertension (IPAH). 24037626 2013