ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: Cystic medial necrosis of aorta ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0392775
Disease: Cystic medial necrosis of aorta
Cystic medial necrosis of aorta 		0.010 GeneticVariation disease BEFREE Mutations in ACTA2 have been reported as a cause of familiar thoracic aortic aneurysm (TAA) with associated bicuspid aortic valve (BAV) in some individuals. 29049801 2017