Gene: GBA ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75822236
rs75822236
GBA
T 0.810 CausalMutation CLINVAR DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent. 7916532

1994
dbSNP: rs75822236
rs75822236
GBA
T 0.810 CausalMutation CLINVAR Identification of six new Gaucher disease mutations. 8432537

1993
dbSNP: rs75822236
rs75822236
GBA
T 0.810 CausalMutation CLINVAR Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients. 8213821

1993
dbSNP: rs121908314
rs121908314
GBA
C 0.810 CausalMutation CLINVAR

dbSNP: rs364897
rs364897
GBA
C 0.810 CausalMutation CLINVAR

dbSNP: rs80356771
rs80356771
GBA
A 0.800 CausalMutation CLINVAR Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease. 24522292

2014
dbSNP: rs80356771
rs80356771
GBA
A 0.800 CausalMutation CLINVAR Adult type 3 Gaucher disease as manifestation of R463C/Rec Nci I mutation: first reported case in the world literature. 24482953

2013
dbSNP: rs80356769
rs80356769
GBA
A 0.800 GeneticVariation CLINVAR Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. 21257328

2011
dbSNP: rs1064651
rs1064651
GBA
G 0.800 GeneticVariation CLINVAR Gaucher disease with communicating hydrocephalus and cardiac involvement. 19816973

2010
dbSNP: rs80356771
rs80356771
GBA
A 0.800 CausalMutation CLINVAR Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene. 18586596

2008
dbSNP: rs1064651
rs1064651
GBA
G 0.800 GeneticVariation CLINVAR Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621

2006
dbSNP: rs80356769
rs80356769
GBA
A 0.800 GeneticVariation CLINVAR Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621

2006
dbSNP: rs1064651
rs1064651
GBA
G 0.800 GeneticVariation CLINVAR "Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and ""modifier"" polymorphisms." 15146461

2004
dbSNP: rs80356769
rs80356769
GBA
A 0.800 GeneticVariation CLINVAR V394L, G377S, and N188S are mutations that have previously been associated with non-neuronopathic Gaucher disease. 12595585

2003
dbSNP: rs80356771
rs80356771
GBA
A 0.800 CausalMutation CLINVAR Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. 12595585

2003
dbSNP: rs1064651
rs1064651
GBA
G 0.800 GeneticVariation CLINVAR Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S). 11992489

2002
dbSNP: rs1064651
rs1064651
GBA
G 0.800 GeneticVariation CLINVAR Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation. 11359469

2001
dbSNP: rs80356769
rs80356769
GBA
A 0.800 GeneticVariation CLINVAR Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 10796875

2000
dbSNP: rs80356771
rs80356771
GBA
A 0.800 CausalMutation CLINVAR Mutation analysis in 46 British and Irish patients with Gaucher's disease. 9279145

1997
dbSNP: rs1064651
rs1064651
GBA
G 0.800 GeneticVariation CLINVAR Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. 8544197

1995
dbSNP: rs80356769
rs80356769
GBA
A 0.800 GeneticVariation CLINVAR Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. 8294487

1994
dbSNP: rs80356771
rs80356771
GBA
A 0.800 CausalMutation CLINVAR Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. 8294487

1994
dbSNP: rs80356771
rs80356771
GBA
A 0.800 CausalMutation CLINVAR DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype? 8118463

1994
dbSNP: rs80356771
rs80356771
GBA
A 0.800 CausalMutation CLINVAR Genetic diagnosis of Gaucher's disease. 1348297

1992
dbSNP: rs80356771
rs80356771
GBA
A 0.800 CausalMutation CLINVAR Characterization of human glucocerebrosidase from different mutant alleles. 1704891

1991