Gene: GBA ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs421016
rs421016
GBA
G 0.800 CausalMutation CLINVAR Functional analysis of 11 novel GBA alleles. 24022302

2014
dbSNP: rs76763715
rs76763715
GBA
C 0.800 CausalMutation CLINVAR Glucocerebrosidase mutations in primary parkinsonism. 25249066

2014
dbSNP: rs421016
rs421016
GBA
G 0.800 CausalMutation CLINVAR A common and two novel GBA mutations in Thai patients with Gaucher disease. 23719189

2013
dbSNP: rs421016
rs421016
GBA
G 0.800 CausalMutation CLINVAR Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease. 23430543

2013
dbSNP: rs421016
rs421016
GBA
G 0.800 CausalMutation CLINVAR Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1. 15605411

2005
dbSNP: rs421016
rs421016
GBA
G 0.800 CausalMutation CLINVAR Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients. 14757438

2004
dbSNP: rs421016
rs421016
GBA
C 0.800 GeneticVariation CLINVAR New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P. 7981693

1994
dbSNP: rs76763715
rs76763715
GBA
C 0.800 CausalMutation CLINVAR Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. 8294487

1994
dbSNP: rs76763715
rs76763715
GBA
G 0.800 CausalMutation CLINVAR

dbSNP: rs1064651
rs1064651
GBA
G 0.760 CausalMutation CLINVAR Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621

2006
dbSNP: rs364897
rs364897
GBA
C 0.710 GeneticVariation CLINVAR Functional analysis of 11 novel GBA alleles. 24022302

2014
dbSNP: rs364897
rs364897
GBA
C 0.710 GeneticVariation CLINVAR A monozygotic twin pair with highly discordant Gaucher phenotypes. 21056933

2011
dbSNP: rs364897
rs364897
GBA
C 0.710 GeneticVariation CLINVAR Clinical and genetic characteristics of Korean patients with Gaucher disease. 20729108

2011
dbSNP: rs364897
rs364897
GBA
C 0.710 GeneticVariation CLINVAR Gaucher disease patient with myoclonus epilepsy and a novel mutation. 20004867

2010
dbSNP: rs364897
rs364897
GBA
C 0.710 GeneticVariation CLINVAR Genetic and clinical features of patients with Gaucher disease in Hungary. 17395504

2007
dbSNP: rs75822236
rs75822236
GBA
T 0.710 CausalMutation CLINVAR Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621

2006
dbSNP: rs364897
rs364897
GBA
C 0.710 GeneticVariation CLINVAR Gaucher mutation N188S is associated with myoclonic epilepsy. 16086325

2005
dbSNP: rs364897
rs364897
GBA
C 0.710 GeneticVariation CLINVAR Expression studies revealed that the c.1093G>A (p.E326K) change, which was never found alone in a Gaucher disease-causing allele, when found in a double mutant such as [c.680A>G; c.1093G>A] ([p.N188S; p.E326K]) and [c.1448T>C; c.1093G>A] ([p.L444P; p.E326K]), decreases activity compared to the activity found for the other mutation alone. 15146461

2004
dbSNP: rs409652
rs409652
GBA
T 0.710 CausalMutation CLINVAR Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships. 12791040

2003
dbSNP: rs80356771
rs80356771
GBA
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: rs409652
rs409652
GBA
T 0.710 CausalMutation CLINVAR Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients. 9153297

1997
dbSNP: rs80356771
rs80356771
GBA
A 0.710 CausalMutation CLINVAR Mutation analysis in 46 British and Irish patients with Gaucher's disease. 9279145

1997
dbSNP: rs80356771
rs80356771
GBA
A 0.710 CausalMutation CLINVAR Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. 8294487

1994
dbSNP: rs75822236
rs75822236
GBA
T 0.710 CausalMutation CLINVAR Identification of six new Gaucher disease mutations. 8432537

1993
dbSNP: rs364897
rs364897
GBA
C 0.710 CausalMutation CLINVAR