ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Disease: Atrioventricular Septal Defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		0.010 GeneticVariation disease BEFREE In vivo analysis of zebrafish embryos injected with ALK2 L343P RNA revealed improper atrioventricular canal formation. 19506109 2009