Disease: Congenital aneurysm of ascending aorta ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		0.030 GeneticVariation disease BEFREE Familial aortic aneurysm and dissection due to transforming growth factor-beta receptor 2 mutation. 21324918 2011
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		0.030 GeneticVariation disease BEFREE To describe the clinical findings and natural history in 22 carriers of an R460H mutation in the transforming growth factor beta receptor 2 gene (TGFbetaR2) from a five-generation kindred ascertained by familial aortic dissection. 16885183 2006
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		0.030 GeneticVariation disease BEFREE Germline TGFBR2 mutations are responsible for the inherited predisposition to familial TAAD in 5% of these cases. 16027248 2005