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: rs863223740
rs863223740
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		A 0.700 CausalMutation CLINVAR Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 30675029 2019
dbSNP: rs863223740
rs863223740
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		A 0.700 GeneticVariation CLINVAR Aortic dilation, genetic testing, and associated diagnoses. 26133393 2016
dbSNP: rs863223740
rs863223740
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		A 0.700 CausalMutation CLINVAR Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing. 26854089 2016
dbSNP: rs863223740
rs863223740
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		A 0.700 CausalMutation CLINVAR Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. 25944730 2015
dbSNP: rs863223740
rs863223740
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		A 0.700 CausalMutation CLINVAR Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 20101697 2010
dbSNP: rs863223740
rs863223740
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		A 0.700 CausalMutation CLINVAR The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 15235019 2004
dbSNP: rs863223740
rs863223740
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		A 0.700 CausalMutation CLINVAR Crystal structure of a phosphorylated Smad2. Recognition of phosphoserine by the MH2 domain and insights on Smad function in TGF-beta signaling. 11779503 2001
dbSNP: rs863223740
rs863223740
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		A 0.700 CausalMutation CLINVAR Cooperative binding of Smad proteins to two adjacent DNA elements in the plasminogen activator inhibitor-1 promoter mediates transforming growth factor beta-induced smad-dependent transcriptional activation. 10092624 1999