APRT, adenine phosphoribosyltransferase, 353

N. diseases: 384; N. variants: 12
Disease: Fukuyama Type Congenital Muscular Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		0.010 AlteredExpression disease BEFREE The activity of AMP deaminase in muscle of patients with FCMD and WH which showed severe pathologic change was remarkably low. 3808228 1986