Gene: GBA ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 CausalMutation disease CLINVAR Integrated Genetic Analysis of Racial Differences of Common GBA Variants in Parkinson's Disease: A Meta-Analysis. 29527153 2018
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 CausalMutation disease CLINVAR Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening. 27735925 2017
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Mutations of glucocerebrosidase gene and susceptibility to Parkinson's disease: An updated meta-analysis in a European population. 26868973 2016
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 CausalMutation disease CLINVAR Differential effects of severe vs mild GBA mutations on Parkinson disease. 25653295 2015
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 CausalMutation disease CLINVAR Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry. 26096741 2015
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 CausalMutation disease CLINVAR iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's disease. 25456120 2014
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 CausalMutation disease CLINVAR Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease. 24522292 2014
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 CausalMutation disease CLINVAR Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients. 25127542 2014
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 CausalMutation disease CLINVAR Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes. 24756352 2014
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 CausalMutation disease CLINVAR Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations. 23699752 2013
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. 23588557 2013
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. 22451204 2012
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 CausalMutation disease 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
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease CLINVAR Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. 21257328 2011
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 CausalMutation disease CLINVAR Clinical and genetic characteristics of Korean patients with Gaucher disease. 20729108 2011
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease CLINVAR Gaucher disease with communicating hydrocephalus and cardiac involvement. 19816973 2010
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 CausalMutation disease CLINVAR Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. 19846850 2009
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). 18338393 2008
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 CausalMutation disease CLINVAR Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene. 18586596 2008
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 CausalMutation disease CLINVAR Genetic and clinical features of patients with Gaucher disease in Hungary. 17395504 2007
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 CausalMutation disease CLINVAR Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621 2006