SMAD3, SMAD family member 3, 4088

N. diseases: 470; N. variants: 95
Disease: Osteoarthrosis Deformans ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans 		0.300 Biomarker disease CTD_human Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 22772368 2012
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans 		0.300 Biomarker disease CTD_human Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. 21217753 2011