Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.070 | GeneticVariation | disease | BEFREE | Eighteen BMPR2 mutation carriers and 7 ALK1 mutation carriers were detected in the 54 patients with childhood IPAH or HPAH. | 22632830 | 2012 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | Mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene, the activin receptor-like kinase 1 (ALK1) gene, and SMAD8 gene have been reported in heritable pulmonary arterial hypertension (HPAH) and in idiopathic pulmonary arterial hypertension (IPAH). | 22374147 | 2012 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | Defective TGF-beta signaling in endothelial cells attributable to mutations in endoglin or the type I receptor ALK-1 leads to hereditary hemorrhagic telangiectasia, whereas defective BMP signaling attributable to mutations in the BMP receptor II has been associated with development of primary pulmonary hypertension. | 16675726 | 2006 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | The aim of this study was to determine whether members of families with PPH and confirmed or probable HHT had ALK-1 mutations. | 15065824 | 2004 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | Mutations in a second gene, ALK-1, present in families with hereditary hemorrhagic telangiectasia type 2, also causes PPH. | 12708784 | 2003 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | Recently, mutations in BMPR2 and ALK-1, genes that encode members of the transforming growth factor-beta (TGF-beta) receptor superfamily, have been found in patients with primary pulmonary hypertension. | 11869166 | 2002 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | Mutations in ALK1, a TGF-beta type 1 receptor, previously known to cause type 2 hereditary haemorrhagic telangiectasia (HHT), have also been reported in a few HHT families with clinical and histological features of PPH. | 11817654 | 2001 |