SMAD3, SMAD family member 3, 4088

N. diseases: 470; N. variants: 95
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4277533
Disease: Dissection, Blood Vessel
Dissection, Blood Vessel
0.300 Biomarker phenotype CTD_human Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. 21217753 2011