ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: Ehlers-Danlos Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		0.010 GeneticVariation disease BEFREE Marfan syndrome was found in 61 patients, Loeys-Dietz in 10, Acta 2 mutations in 4, aortitis in 2, and Ehlers-Danlos syndrome in 1. 29611032 2019