PNP, purine nucleoside phosphorylase, 4860

N. diseases: 161; N. variants: 13
Disease: Gangliosidoses ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017083
Disease: Gangliosidoses
Gangliosidoses 		0.010 GeneticVariation disease BEFREE Two variants of type-ABGM2-gangliosidosis can be distinguished by using p-nitrophenyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyranoside (PNP-GlcNAc-6-SO4) as substrate. 6222647 1983