ADAMTSL2, ADAMTS like 2, 9719

N. diseases: 19; N. variants: 12
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018566
Disease: Congenital Hand Deformities
Congenital Hand Deformities
0.300 Biomarker group CTD_human ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. 18677313 2008