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 UNIPROT 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 GeneticVariation UNIPROT Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. 18332251

2008

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients. 17620502

2007

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT 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 UNIPROT Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1. 15605411

2006

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C. 15826241

2005

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype. 15292921

2005

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT 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 UNIPROT 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 UNIPROT The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. 11933202

2002

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 10796875

2001

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation. 10340647

2000

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles. 10744424

2000

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online. 10447266

1999

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? 10352942

1999

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients. 10360404

1999

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome. 9554746

1998

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Hematologically important mutations: Gaucher disease. 9516376

1998

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease. 9683600

1998

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Six new Gaucher disease mutations. 9554454

1998

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs. 9650766

1998

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT 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 GeneticVariation UNIPROT Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients. 9217217

1997

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT 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: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT The molecular characterization of Gaucher disease in South Africa. 8937765

1997