ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Disease: Familial pulmonary arterial hypertension ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GeneticVariation disease ORPHANET Key role of the endothelial TGF-β/ALK1/endoglin signaling pathway in humans and rodents pulmonary hypertension. 24956016 2014
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GeneticVariation disease ORPHANET Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension. 24936649 2014
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GeneticVariation disease ORPHANET The genetics of pulmonary arterial hypertension. 24951767 2014
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GeneticVariation disease ORPHANET Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension. 23298310 2013
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GeneticVariation disease ORPHANET Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers. 22632830 2012