SMAD2, SMAD family member 2, 4087

N. diseases: 289; N. variants: 8
Disease: Aortic Aneurysm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.020 Biomarker disease BEFREE We recommend that SMAD2 should be included in the expanding panel of genetic testing for patients with unexplained aortic aneurysms, which will facilitate genotype-phenotype correlation of SMAD2 mutations. 28283438 2017
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.020 AlteredExpression disease BEFREE By chromatin immunoprecipitation, we demonstrate that the increases in H3K9/14 acetylation and H3K4 methylation are involved in Smad2 overexpression in TAA, in a cell-specific and transcription start site-specific manner. 20829218 2011