ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.130 Biomarker disease BEFREE To investigate the role of ALK1 in heart failure, Alk1 haploinsufficient (Alk1<sup>+/-</sup>) and wild-type (WT) mice were studied 2 weeks after severe transverse aortic constriction (TAC). 28820968 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.130 GeneticVariation disease BEFREE Conditional knockout of activin like kinase-1 (ALK-1) leads to heart failure without maladaptive remodeling. 28213819 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.130 AlteredExpression disease BEFREE Therapeutic targeting of TGFβ signaling at ALK1-5 receptor activity level has met with limited success and extensive research is needed to develop therapies based on the components of TGFβ signaling pathway, for instance cardiac dysfunction and heart failure. 28565818 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.130 Biomarker disease HPO