SMAD2, SMAD family member 2, 4087

N. diseases: 289; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.300 Biomarker disease CTD_human ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. 18677313 2008