Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
0.420 GeneticVariation disease BEFREE Aneurysms-osteoarthritis syndrome (AOS), caused by SMAD3 mutations, is a recently described autosomal-dominant syndrome characterized by arterial aneurysms, tortuosity, and aortic dissections in combination with osteoarthritis. 22975338 2013
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
0.420 GeneticVariation disease BEFREE An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection. 22803640 2013
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
0.420 Biomarker disease CTD_human Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. 21217753 2011
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
0.420 Biomarker disease HPO