rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Integrated Genetic Analysis of Racial Differences of Common GBA Variants in Parkinson's Disease: A Meta-Analysis.
|
29527153 |
2018 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.
|
26905200 |
2016 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Mutations of glucocerebrosidase gene and susceptibility to Parkinson's disease: An updated meta-analysis in a European population.
|
26868973 |
2016 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry.
|
26096741 |
2015 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Differential effects of severe vs mild GBA mutations on Parkinson disease.
|
25653295 |
2015 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's disease.
|
25456120 |
2014 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes.
|
24756352 |
2014 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant.
|
22592100 |
2012 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
|
22451204 |
2012 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
|
19846850 |
2009 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
|
18979180 |
2008 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
|
18338393 |
2008 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Genetic and clinical features of patients with Gaucher disease in Hungary.
|
17395504 |
2007 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
"Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and ""modifier"" polymorphisms."
|
15146461 |
2004 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
|
10796875 |
2000 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.
|
8294487 |
1994 |
rs76763715
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.
|
3353383 |
1988 |
rs421016
|
|
C |
0.850 |
GeneticVariation |
CLINVAR |
|
|
|
rs421016
|
|
G |
0.850 |
CausalMutation |
CLINVAR |
|
|
|
rs75822236
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Most children with the p.N409S/p.N409S and p.N409S/p.R535H GD1 genotypes have minimal disease manifestations and progression during childhood and can be monitored using limited assessments.
|
27735925 |
2017 |
rs75822236
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations.
|
23699752 |
2013 |
rs75822236
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.
|
23588557 |
2013 |
rs75822236
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
|
16293621 |
2006 |
rs75822236
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation.
|
12972024 |
2004 |
rs75822236
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.
|
9240741 |
1996 |