SMAD2, SMAD family member 2, 4087

N. diseases: 289; N. variants: 8
Disease: Complex congenital heart disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0744669
Disease: Complex congenital heart disease
Complex congenital heart disease 		0.010 GeneticVariation disease BEFREE Pathogenic variants in SMAD2 have been reported in association with arterial aneurysms and dissections and in large cohorts of subjects with complex congenital heart disease (CHD). 30157302 2018