×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis.
22493294
2012
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations.
23699752
2013
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
CLINVAR
Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression.
15954102
2005
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
18979180
2008
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
12595585
2003
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.
8294487
1994
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
CLINVAR
"Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and ""modifier"" polymorphisms."
15146461
2004
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
10796875
2000
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
CLINVAR
Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation.
11359469
2001
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Differential effects of severe vs mild GBA mutations on Parkinson disease.
25653295
2015
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Sequence of two alleles responsible for Gaucher disease.
1972019
1990
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
11933202
2002
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Characterization of human glucocerebrosidase from different mutant alleles.
1704891
1991
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
18338393
2008
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
16293621
2006
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
22451204
2012
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.
7916532
1994
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's disease.
25456120
2014
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
CLINVAR
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.
8294487
1994
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Mutations in Jewish patients with Gaucher disease.
1558964
1992
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Adult type 3 Gaucher disease as manifestation of R463C/Rec Nci I mutation: first reported case in the world literature.
24482953
2013
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.
26905200
2016
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
24522292
2014
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.
9240741
1996
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
CLINVAR
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
12595585
2003