Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.170 Biomarker BEFREE To investigate the role of BMP9, the main ligand of ALK1 (Activin receptor-like kinase 1)/BMPR2 heterocomplexes, in pulmonary hypertension. 30636542

2019
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.170 Biomarker BEFREE Key role of the endothelial TGF-β/ALK1/endoglin signaling pathway in humans and rodents pulmonary hypertension. 24956016

2014
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.170 GeneticVariation BEFREE Pulmonary vascular manifestations of HHT include pulmonary arteriovenous malformations (PAVMs; especially in patients with ENG mutations) and less frequently pulmonary hypertension (especially in patients with ACVRL1 mutations). 17641482

2007
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.170 Biomarker BEFREE Activin receptor-like kinase 1 (ALK-1) gene has recently been linked to the pathogenesis of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia, which has some resemblance with the CREST syndrome. 16941203

2007
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.170 GeneticVariation LHGDN Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood. 15687131

2005
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.170 Biomarker BEFREE Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. 14684682

2003
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.170 GeneticVariation BEFREE Pulmonary hypertension in association with hereditary hemorrhagic telangiectasia can involve mutations in ALK1. 11484689

2001
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.170 Biomarker HPO