ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: Atrial Septal Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.030 GeneticVariation group BEFREE In the present study, we further searched for mutations in human α-cardiac actin (ACTC1) and smooth muscle α-actin (ACTA2) genes as a possible cause of atrial septum defect type II (ASDII) and PDA. 25861618 2015
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.030 GeneticVariation group BEFREE (2007) Am J Med Genet 143: 2662-2667 Alpha-cardiac actin mutations produce atrial septal defects Matsson et al.(2008) Hum Mol Genet 17: 256-265. 18400036 2008
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.030 GeneticVariation group BEFREE Alpha-cardiac actin mutations produce atrial septal defects. 17947298 2008