SMAD2, SMAD family member 2, 4087

N. diseases: 289; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.310 Biomarker group GENOMICS_ENGLAND De novo mutations in histone-modifying genes in congenital heart disease. 23665959 2013
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.310 AlteredExpression group BEFREE From our results, we can conclude that maternal diabetes results in transient and localized alterations in CML, VEGF expression, and Smad2 phosphorylation overlapping with those regions of the developing heart that are most sensitive to diabetes-induced congenital heart disease. 19188426 2009