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: rs773409311
rs773409311
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		C 0.700 CausalMutation CLINVAR Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621 2006
dbSNP: rs773409311
rs773409311
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		C 0.700 CausalMutation CLINVAR Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations. 16185907 2005
dbSNP: rs773409311
rs773409311
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		C 0.700 CausalMutation CLINVAR The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. 11933202 2002