Disease: Lysosomal Storage Diseases ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lysosomal Storage Diseases
CUI: C0085078
Disease: Lysosomal Storage Diseases
0.010 GeneticVariation BEFREE Certain acid glycosidase variants that have been described in association with late-onset LSDs and which are known to have variable residual plasma and leukocyte enzyme activity in patients appear to show intermediate to low enzyme activity (p.N215S and p.Q279E α-Gal A respectively) in the over-expression system. 21972175 2012