GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Gaucher Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79796061
rs79796061
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		A 0.700 GeneticVariation CLINVAR Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621 2006
dbSNP: rs79796061
rs79796061
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		A 0.700 GeneticVariation CLINVAR Hematologically important mutations: Gaucher disease. 16185900 2006