Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker CLINGEN SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections. 26247899

2015
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker CLINGEN Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway. 19224541

2009
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker CLINGEN SMAD proteins control DROSHA-mediated microRNA maturation. 18548003

2008
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker CLINGEN Crystal structure of a phosphorylated Smad2. Recognition of phosphoserine by the MH2 domain and insights on Smad function in TGF-beta signaling. 11779503

2001
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker CLINGEN TGF-beta receptor-mediated signalling through Smad2, Smad3 and Smad4. 9311995

1997
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker CLINGEN MADR2 is a substrate of the TGFbeta receptor and its phosphorylation is required for nuclear accumulation and signaling. 8980228

1996
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker GENOMICS_ENGLAND