ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Disease: Congenital Heart Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.030 GeneticVariation group BEFREE Various substitution mutations in ALK2, a transmembrane serine/threonine kinase receptor for bone morphogenetic proteins (BMPs), have been identified in patients with genetic disorders such as fibrodysplasia ossificans progressiva (FOP), diffuse intrinsic pontine glioma (DIPG) and heart defects. 29551750 2018
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.030 GeneticVariation group BEFREE ALK2 mutation in a patient with Down's syndrome and a congenital heart defect. 21248739 2011
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.030 GeneticVariation group BEFREE Dominant-negative ALK2 allele associates with congenital heart defects. 19506109 2009