GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs421016
rs421016
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
0.850 GeneticVariation BEFREE The given study establishes p.Leu483Pro as the most prevalent mutation in the Indian patients with type 1 Gaucher disease that provide new insight into the molecular basis of Gaucher Disease in India. 30764785 2019
dbSNP: rs421016
rs421016
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
0.850 GeneticVariation BEFREE Further, in the GD1 group, the neurochemical profiles were compared between individuals with and without a single L444P allele. 31613991 2019
dbSNP: rs421016
rs421016
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
0.850 GeneticVariation BEFREE Our results suggest that GBA deficiency due to L444P GBA heterozygous mutation and the accompanying accumulation of α-synuclein render DA neurons more susceptible to MPTP intoxication. 29310663 2018
dbSNP: rs421016
rs421016
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
0.850 GeneticVariation BEFREE Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India. 30285649 2018
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
C 0.850 CausalMutation CLINVAR Integrated Genetic Analysis of Racial Differences of Common GBA Variants in Parkinson's Disease: A Meta-Analysis. 29527153 2018
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
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
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
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
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
C 0.850 CausalMutation CLINVAR Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry. 26096741 2015
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
C 0.850 CausalMutation CLINVAR Differential effects of severe vs mild GBA mutations on Parkinson disease. 25653295 2015
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
C 0.850 CausalMutation CLINVAR iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's disease. 25456120 2014
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
C 0.850 CausalMutation CLINVAR Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes. 24756352 2014
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
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
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
C 0.850 CausalMutation CLINVAR Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. 22451204 2012
dbSNP: rs421016
rs421016
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
0.850 GeneticVariation BEFREE Here, we describe the case of an adult non-Jewish Caucasian male with a heterozygous Gaucher disease type 1 (mutations c.1226A>G and c.1448T>C in the GBA1 gene) who presented with atypical morphology of GC on bone marrow examination. 21113739 2011
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
0.850 GeneticVariation BEFREE Here, we describe the case of an adult non-Jewish Caucasian male with a heterozygous Gaucher disease type 1 (mutations c.1226A>G and c.1448T>C in the GBA1 gene) who presented with atypical morphology of GC on bone marrow examination. 21113739 2011
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
0.850 GeneticVariation BEFREE All but one patient with GD1/PD phenotype had at least one N370S GBA1 allele. 20177787 2010
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
0.850 GeneticVariation BEFREE Homozygous N370S GD leads to adult-onset progressive skeletal disease with relative sparing of the viscera, a strikingly high risk of multiple myeloma, and an increased risk of other cancers. 19260119 2009
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
C 0.850 CausalMutation CLINVAR Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. 19846850 2009
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
0.850 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064 2009
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
C 0.850 CausalMutation CLINVAR Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). 18338393 2008
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
0.850 GeneticVariation BEFREE Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry. 18979180 2008
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
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
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
0.850 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057 2008
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
C 0.850 CausalMutation CLINVAR Genetic and clinical features of patients with Gaucher disease in Hungary. 17395504 2007
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
C 0.850 CausalMutation CLINVAR "Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and ""modifier"" polymorphisms." 15146461 2004