rs76763715, GBA

N. diseases: 27
Disease: Lysosomal Storage Diseases ×
Source: BEFREE ×
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 Mutations in GBA1 gene that encodes lysosomal glucocerebrosidase result in Type 1 Gaucher Disease (GD), the commonest lysosomal storage disorder; the most prevalent disease mutation is N370S. 19260119 2009