Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.720 | GeneticVariation | disease | ORPHANET | Four bone morphogenetic protein receptor II (BMPR2) mutations have been previously described in PVOD patients; in the current study we describe 2 additional cases of BMPR2 mutation in PVOD. | 18626305 | 2008 | ||||
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0.720 | GeneticVariation | disease | BEFREE | BMPR2 mutation was occasionally reported in pulmonary veno-occlusive disease, appetite suppressant-related pulmonary arterial hypertension (PAH), and PAH with congenital heart disease. | 24728306 | 2014 | ||||
|
0.720 | GeneticVariation | disease | ORPHANET | The finding of PVOD associated with a BMPR2 mutation reveals a possible pathogenetic connection with PPH. | 12446270 | 2003 | ||||
|
0.720 | GeneticVariation | disease | BEFREE | Genetic causes of pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease (PVOD) have been identified, leading to a growing need for genetic counselling.Between 2003 and 2014, genetic counselling was offered to 529 PAH and 100 PVOD patients at the French Referral Centre for Pulmonary Hypertension.Mutations in PAH-predisposing genes were identified in 72 patients presenting as sporadic PAH (17% of cases; 62 mutations in BMPR2, nine in ACVRL1 (ALK1) and one in ENG) and in 94 patients with a PAH family history (89% of cases; 89 mutations in BMPR2, three in ACVRL1 (ALK1) and two in KCNK3). | 26699722 | 2016 | ||||
|
0.720 | Biomarker | disease | CTD_human | |||||||
|
0.720 | Biomarker | disease | GENOMICS_ENGLAND | Genetic causes of pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease (PVOD) have been identified, leading to a growing need for genetic counselling.Between 2003 and 2014, genetic counselling was offered to 529 PAH and 100 PVOD patients at the French Referral Centre for Pulmonary Hypertension.Mutations in PAH-predisposing genes were identified in 72 patients presenting as sporadic PAH (17% of cases; 62 mutations in BMPR2, nine in ACVRL1 (ALK1) and one in ENG) and in 94 patients with a PAH family history (89% of cases; 89 mutations in BMPR2, three in ACVRL1 (ALK1) and two in KCNK3). | 26699722 | 2016 | ||||
|
0.720 | CausalMutation | disease | CLINVAR | Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. | 16429395 | 2006 |