NEU1, neuraminidase 1, 4758

N. diseases: 207; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888317
Disease: Sialidosis, type 2
Sialidosis, type 2
0.310 GeneticVariation disease BEFREE Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression. 14695530 2004
CUI: C3888317
Disease: Sialidosis, type 2
Sialidosis, type 2
0.310 Biomarker disease CTD_human