GBA, glucosylceramidase beta, 2629

N. diseases: 220; N. variants: 79
Disease: Gaucher Disease ×
Source: INFERRED ×
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 GeneticVariation disease CLINVAR Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease. 30328501 2018
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 Clinical course and prognosis in patients with Gaucher disease and parkinsonism. 27123476 2016
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S. 27222815 2016
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation disease CLINVAR Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort. 27397011 2016
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 Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells. 26220978 2015
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 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 Functional analysis of 11 novel GBA alleles. 24022302 2014
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation disease CLINVAR Functional analysis of 11 novel GBA alleles. 24022302 2014
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 GeneticVariation disease CLINVAR A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. 23588557 2013
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 GeneticVariation disease CLINVAR DLB and PDD: a role for mutations in dementia and Parkinson disease genes? 22118943 2012
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Novel pathogenic mutations in the glucocerebrosidase locus. 22658918 2012
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups. 22375149 2012
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation disease CLINVAR The enigma of the E326K mutation in acid β-glucocerebrosidase. 21831682 2012
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 Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications. 21982627 2011
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 CausalMutation disease CLINVAR Coinheritance of Gaucher disease and α-thalassemia resulting in confusion between two inherited hematologic diseases. 20846888 2011
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation disease CLINVAR A monozygotic twin pair with highly discordant Gaucher phenotypes. 21056933 2011
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 GeneticVariation disease CLINVAR Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease. 21087600 2011