SMAD2, SMAD family member 2, 4087

N. diseases: 289; N. variants: 8
Disease: Coronary heart disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.020 AlteredExpression disease BEFREE Results from western blot analysis demonstrated that in CHD pigs treated with 45 mg/kg rutin, the CHD-associated increases in transforming growth factor β1 and SMAD2 expression and reductions in phosphorylated (p)-ERK1/2 and p-Akt expression were attenuated. 29250160 2018
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.020 GeneticVariation disease BEFREE Our data suggest two distinct phenotypes associated with pathogenic variants in SMAD2: complex CHD with or without laterality defects and other congenital anomalies, and a late-onset vascular phenotype characterized by arterial aneurysms with connective tissue abnormalities. 30157302 2018