ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Disease: Ascending aorta dilatation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0345049
Disease: Ascending aorta dilatation
Ascending aorta dilatation 		0.010 GeneticVariation disease BEFREE Even though elastin and fibrillin-1 are the major structural components of elastic fibers, mutations in elastin and fibrillin-1 lead to narrowing of large arteries in supravalvular aortic stenosis and dilation of the ascending aorta in Marfan syndrome, respectively. 19850904 2009