ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: Bicuspid aortic valve ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.120 GeneticVariation disease BEFREE It is also known that BAV is more frequent in patients with thoracic aortic aneurysm (TAA) related to mutations in <i>ACTA2, FBN1</i>, and <i>TGFBR2</i> genes. 28883797 2017
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.120 GeneticVariation disease BEFREE We recruited 20 patients who underwent surgery for BAV and TAA; clinical genetic evaluation and ACTA2 mutation analysis were performed on each patient, along with next-generation sequencing analysis of BAV-related genes. 29049801 2017
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.120 Biomarker disease HPO