ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Disease: Pulmonary Hypertension ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension 		0.510 Biomarker phenotype CTD_human Increased pulmonary expression of ALK-1 has been reported in patients with severe PH as well as in experimental models of PH. 26540443 2016
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension 		0.510 Biomarker phenotype RGD The transforming growth factor-beta/Smad2,3 signalling axis is impaired in experimental pulmonary hypertension. 17392319 2007
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension 		0.510 GeneticVariation phenotype LHGDN Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. 14684682 2003