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 Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression. 15954102

2005
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 GeneticVariation CLINVAR Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation. 11359469

2001
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 GeneticVariation CLINVAR Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. 12595585

2003
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 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 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 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 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 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: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.930 GeneticVariation CLINVAR

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation CLINVAR Hematologically important mutations: Gaucher disease. 16185900

2006
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation CLINVAR Genetic and clinical features of patients with Gaucher disease in Hungary. 17395504

2007
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation CLINVAR A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. 23588557

2013
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation CLINVAR DLB and PDD: a role for mutations in dementia and Parkinson disease genes? 22118943

2012
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation CLINVAR Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease. 30328501

2018
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation CLINVAR Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621

2006
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation CLINVAR Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients. 9153297

1997
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation CLINVAR New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P. 7981693

1994
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation CLINVAR A monozygotic twin pair with highly discordant Gaucher phenotypes. 21056933

2011
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation CLINVAR Three unique base pair changes in a family with Gaucher disease. 1864608

1991
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation CLINVAR Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 10796875

2000