Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 GermlineCausalMutation ORPHANET Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445

2015
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 Biomarker CLINGEN Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445

2015
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 GermlineCausalMutation ORPHANET A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. 23824657

2013
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 Biomarker CLINGEN A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. 23824657

2013
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 Biomarker CLINGEN Overexpression of transforming growth factor-beta is associated with increased hyaluronan content and impairment of repair in Marfan syndrome aortic aneurysm. 16820603

2006
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 GeneticVariation CLINVAR

Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 Biomarker GENOMICS_ENGLAND