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: rs147138516
rs147138516
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		G 0.700 GeneticVariation CLINVAR Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort. 27397011 2016
dbSNP: rs147138516
rs147138516
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		G 0.700 GeneticVariation CLINVAR A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. 23588557 2013
dbSNP: rs147138516
rs147138516
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		G 0.700 GeneticVariation CLINVAR DLB and PDD: a role for mutations in dementia and Parkinson disease genes? 22118943 2012
dbSNP: rs147138516
rs147138516
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		G 0.700 GeneticVariation CLINVAR The enigma of the E326K mutation in acid β-glucocerebrosidase. 21831682 2012
dbSNP: rs147138516
rs147138516
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		G 0.700 GeneticVariation CLINVAR Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease. 21087600 2011
dbSNP: rs147138516
rs147138516
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		G 0.700 GeneticVariation CLINVAR Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease. 10079102 1999
dbSNP: rs147138516
rs147138516
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		G 0.700 GeneticVariation CLINVAR Three unique base pair changes in a family with Gaucher disease. 1864608 1991