OGA, O-GlcNAcase, 10724

N. diseases: 140; N. variants: 6
Disease: Gangliosidoses ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017083
Disease: Gangliosidoses
Gangliosidoses 		0.030 AlteredExpression disease BEFREE Retrovirus-mediated transfer and expression of beta-hexosaminidase alpha-chain cDNA in human fibroblasts from G(M2)-gangliosidosis B1 variant. 11560770 2001
CUI: C0017083
Disease: Gangliosidoses
Gangliosidoses 		0.030 GeneticVariation disease BEFREE W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis. 9603435 1998
CUI: C0017083
Disease: Gangliosidoses
Gangliosidoses 		0.030 Biomarker disease BEFREE Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis. 8896570 1996