Source: INFERRED

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 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 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 Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. 19846850

2009
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 CausalMutation 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
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 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
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 CausalMutation CLINVAR Mutation analysis in 46 British and Irish patients with Gaucher's disease. 9279145

1997
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 CausalMutation CLINVAR Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. 3353383

1988
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 GeneticVariation CLINVAR Prevalent and rare mutations among Gaucher patients. 2269438

1990
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 CausalMutation 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
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 GeneticVariation CLINVAR Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. 8544197

1995
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 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 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 Genetic and clinical features of patients with Gaucher disease in Hungary. 17395504

2007
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 CausalMutation 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
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 CausalMutation CLINVAR Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients. 8213821

1993
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 CausalMutation CLINVAR Genetic diagnosis of Gaucher's disease. 1348297

1992
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 GeneticVariation CLINVAR Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S). 11992489

2002
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 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 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 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 Identification of six new Gaucher disease mutations. 8432537

1993