SMAD6, SMAD family member 6, 4091

N. diseases: 93; N. variants: 26
Disease: Aortic valve disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1260873
Disease: Aortic valve disorder
Aortic valve disorder 		0.300 GermlineCausalMutation disease ORPHANET Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. 22275001 2012