Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses
0.010 AlteredExpression disease BEFREE However, our results show that in most of the analyzed MPS fibroblasts the expression of a poorly known protein belonging to the family of the protein disulfide isomerases, namely Pdia5, is upregulated; here we discuss if its upregulation could be an early event of ER stress possibly related to the severity of the damage induced in the mutant proteins. 22002444 2012