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 Three unique base pair changes in a family with Gaucher disease. 1864608

1991

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Sequence of two alleles responsible for Gaucher disease. 1972019

1990

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution. 1974409

1990

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. 7475546

1995

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Gaucher disease in Spanish patients: analysis of eight mutations. 7627184

1995

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease. 7627192

1995

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT 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 GeneticVariation UNIPROT Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site. 8076951

1994

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Two new Gaucher disease mutations. 8112750

1994

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells. 8294033

1993

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Identification of six new Gaucher disease mutations. 8432537

1993

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Glucocerebrosidase mutations in Gaucher disease. 8790604

1994

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Gaucher Disease type 1, the most prevalent lysosomal disease among Caucasians, is due to defects in the activity of acid beta-glucosidase. 8829654

1996

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients. 8829663

1996

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: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese. 8889591

1996

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

1996

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
1.000 GeneticVariation UNIPROT Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations. 9061570

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 Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses. 9182788

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 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 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 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 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 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