Disease: Mucolipidosis III Gamma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854896
Disease: Mucolipidosis III Gamma
Mucolipidosis III Gamma 		0.010 Biomarker disease BEFREE Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC (N-Acetylglucosamine-1-phosphotransferase [GlcNAc-phosphotransferase]) retains full transferase activity on synthetic substrates but lacks activity on lysosomal hydrolases. 10712439 2000