SMAD3, SMAD family member 3, 4088

N. diseases: 470; N. variants: 95
Disease: Familial thoracic aortic aneurysm and aortic dissection ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863223754
rs863223754
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		AC 0.700 CausalMutation CLINVAR Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition. 24804794 2014
dbSNP: rs863223754
rs863223754
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		AC 0.700 CausalMutation CLINVAR Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. 21778426 2011