Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.010 Biomarker disease BEFREE Mutations in several genes have been identified for these disorders (including latent transforming growth factor β (TGF-β)-binding protein-2 (LTBP2), ADAMTS10, ADAMSTS17 and fibrillin-1 (FBN1) for Weill-Marchesani syndrome, ADAMTSL2 for recessive GD and FBN1 for AD and dominant GD), encoding proteins involved in the microfibrillar network. 27068007 2016