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 CausalMutation disease CLINVAR Clinical and molecular characteristics of patients with Gaucher disease in Southern China. 27865684 2018
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease. 25829804 2015
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients. 27008851 2016
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR A common and two novel GBA mutations in Thai patients with Gaucher disease. 23719189 2013
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease. 23430543 2013
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Genetic and clinical features of patients with Gaucher disease in Hungary. 17395504 2007
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1. 15605411 2005
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Glucocerebrosidase mutations in primary parkinsonism. 25249066 2014
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. 10649495 2000
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 CausalMutation disease CLINVAR Novel point mutation (W184R) in neonatal type 2 Gaucher disease. 10679038 2000
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Glucocerebrosidase mutations in Gaucher disease. 8790604 1994
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR A twelve-year follow-up study on a case of early-onset parkinsonism preceding clinical manifestation of Gaucher disease. 23430873 2012
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 CausalMutation disease CLINVAR Mutation analysis in 46 British and Irish patients with Gaucher's disease. 9279145 1997
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 CausalMutation disease CLINVAR The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. 11933202 2002
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients. 10757640 2000
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Gaucher disease: four families with previously undescribed mutations. 8774051 1996
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). 18338393 2008
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 CausalMutation disease CLINVAR Pediatric Gaucher experience in South Marmara region of Turkey. 22234757 2011
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Hematologically important mutations: Gaucher disease. 16185900 2006
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes. 24685312 2014
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Clinical course and prognosis in patients with Gaucher disease and parkinsonism. 27123476 2016