GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Gaucher Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 Biomarker disease MGD
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Mutations in Jewish patients with Gaucher disease. 1558964 1992
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation disease CLINVAR Three unique base pair changes in a family with Gaucher disease. 1864608 1991
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation disease BEFREE This study was undertaken to identify mutant alleles in such incompletely characterized Gaucher disease, in an attempt to find further correlations between clinical phenotype and the presence of acid beta-glucosidase alleles. 1899336 1991
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. 1961718 1991
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 Biomarker disease BEFREE Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease. 2127241 1990
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation disease BEFREE Gaucher disease has marked phenotypic variation and molecular heterogeneity, and seven point mutations in the acid beta-glucosidase (beta-Glc) gene have been identified. 2349952 1990
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 Biomarker disease BEFREE Processing of acid beta-glucosidase in fibroblasts from three of four type 1 (nonneuronopathic) Ashkenazi Jewish Gaucher disease patients was nearly normal. 2495719 1989
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease 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
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation disease BEFREE Gaucher disease (GD), which results from mutations in the human acid beta-glucosidase (beta-Glc) gene, was used as a model system to compare the utility of three methods capable of detecting single base substitutions. 2508065 1989
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 Biomarker disease BEFREE Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts. 3026174 1986
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 AlteredExpression disease BEFREE The results are discussed in the light of (a) identity of glucocerebrosidase and ;acid' beta-glucosidase, (b) application in clinical diagnosis, (c) physiological significance of the enzyme system, and (d) polygenic inheritance in adult Gaucher's disease. 4780697 1973
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 Biomarker disease BEFREE Gaucher disease is a lysosomal storage disorder resulting from a deficiency of acid beta-glucosidase. 6418635 1983
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 Biomarker disease GENOMICS_ENGLAND Hydrops fetalis associated with Gaucher disease. 6504764 1984
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 AlteredExpression disease BEFREE Although reduced acid beta-glucosidase activity appears to be the primary enzyme defect in type I Gaucher disease, patients with this disorder also have marked elevation of serum acid phosphatase and beta-hexosaminidase activities but with a normal level of lactic dehydrogenase activity. 6859103 1983
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 Biomarker disease BEFREE Discrimination between the three clinical subtypes of Gaucher's disease based on the molecular forms of beta-glucocerebrosidase detected by monoclonal antibody is described. 6883722 1983
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation disease BEFREE These data and the low residual activity of the enzyme in all the variants of Gaucher disease suggest that the mutations of beta-glucocerebrosidase are allelic and involve the active site. 6957882 1982
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Gaucher disease. 7500895 1995
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation disease CLINVAR New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P. 7981693 1994
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 Biomarker disease BEFREE We confirmed that a low-dose/high-frequency regimen of alglucerase was as effective as a high-dose/low-frequency protocol in the treatment of Gaucher's disease, even in the severely ill. 8030654 1994
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. 8294487 1994
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 Biomarker disease BEFREE Two novel fluorescent glycolipids, LRO-glucosylceramide (LRO-GC) and LRO-trihexosylceramide (LRO-THC) were synthesized and utilized for estimating activities of the lysosomal, acid beta-glucosidase in cell extracts and intact skin fibroblasts, derived from normal individuals and patients with Gaucher disease subtypes. 8399329 1993
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Identification of six new Gaucher disease mutations. 8432537 1993
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 AlteredExpression disease BEFREE Effect of cellular type on expression of acid beta-glucosidase: implications for gene therapy in Gaucher disease. 8548554 1995
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 Biomarker disease BEFREE Gaucher disease is a lysosomal storage disorder resulting form deficiency of the acid beta-glucosidase, glucocerebrosidase (GC). 8593601 1995