SMAD6, SMAD family member 6, 4091

N. diseases: 93; N. variants: 26
Disease: Aortic Valve Disease 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		0.400 GermlineCausalMutation disease ORPHANET Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. 22275001 2012
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		0.400 CausalMutation disease CLINVAR