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: rs80356771
rs80356771
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		0.710 GeneticVariation BEFREE We have identified 98.7% of the mutated GBA alleles, finding 56 different GBA mutations and 66 genotypes causing GD in Spain: 47 previously described mutations and 9 novel mutations (4 missense R395C, R463H, W312R and V398I, 1 nonsense R359X, 4 frameshift c.708delC, c.1214-1215delGC, c.1439-1445del7 and c.42-65del24). 17427031 2007
dbSNP: rs80356771
rs80356771
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		A 0.710 CausalMutation CLINVAR Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 10796875 2000
dbSNP: rs80356771
rs80356771
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		A 0.710 CausalMutation CLINVAR Mutation analysis in 46 British and Irish patients with Gaucher's disease. 9279145 1997
dbSNP: rs80356771
rs80356771
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		A 0.710 CausalMutation CLINVAR Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. 8294487 1994