ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 GeneticVariation disease BEFREE Actin, alpha-2, smooth muscle, aorta (ACTA2) mutations are one of the major causes of familial thoracic aortic aneurysms and dissections. 28808903 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 GeneticVariation disease BEFREE ACTA2 mutations are the major cause of familial thoracic aortic aneurysms and dissections. 25759435 2015
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 GeneticVariation disease BEFREE Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections. 24020716 2015
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 GeneticVariation disease BEFREE In the present study, we conducted sequence analyses of the ACTA2 gene in 14 unrelated Japanese patients with familial thoracic AAD (TAAD), and in 26 with sporadic and young-onset TAAD. 19639654 2009