Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
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
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 CausalMutation 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
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 CausalMutation CLINVAR A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. 23588557

2013
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 GeneticVariation 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
CUI: C1961835
Disease: Gaucher Disease, Type 1
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
CUI: C1961835
Disease: Gaucher Disease, Type 1
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
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 GeneticVariation CLINVAR Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621

2006
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
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
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 GeneticVariation 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
CUI: C1961835
Disease: Gaucher Disease, Type 1
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
CUI: C1961835
Disease: Gaucher Disease, Type 1
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
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 CausalMutation CLINVAR Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. 12204005

2002
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
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
CUI: C1961835
Disease: Gaucher Disease, Type 1
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
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 CausalMutation CLINVAR Clinical and genetic characteristics of Korean patients with Gaucher disease. 20729108

2011
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 CausalMutation CLINVAR Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes. 24756352

2014
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 GeneticVariation CLINVAR Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene. 2508065

1989
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
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
CUI: C1961835
Disease: Gaucher Disease, Type 1
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
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 CausalMutation CLINVAR DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype? 8118463

1994
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 CausalMutation 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
CUI: C1961835
Disease: Gaucher Disease, Type 1
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
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 CausalMutation 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
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 GeneticVariation CLINVAR Gaucher disease with communicating hydrocephalus and cardiac involvement. 19816973

2010
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
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