GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Lewy Body Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 CausalMutation disease CLINVAR
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE Lewy body disease (LBD) development is enhanced by mutations in the GBA gene coding for glucocerebrosidase (GCase). 22803570 2012
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 Biomarker disease CTD_human Lewy body disease (LBD) development is enhanced by mutations in the GBA gene coding for glucocerebrosidase (GCase). 22803570 2012
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing. 21472771 2011
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE GBA1 mutations have been implicated in Lewy body diseases (LBDs), such as Parkinson's disease and dementia with Lewy bodies. 23435096 2013
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE GBA1 mutations reduce GCase activity, therefore promoting the aggregation of alpha-synuclein, a common neuropathological finding underlying Parkinson's disease (PD) and dementia with Lewy bodies. 28835999 2018
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE GBA1 mutations, which result in the lysosomal disorder Gaucher disease, are the most common known genetic risk factor for Parkinson disease and Dementia with Lewy Bodies (DLB). 31188151 2019
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE Age-related neurochemical and behavioural changes in D409V/WT GBA1 mouse: Relevance to lewy body dementia. 31299418 2019
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 Biomarker disease BEFREE Author Correction: GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study. 31619746 2019
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE Despite the wealth of clinical and genetic evidence supporting the association between mutant genotypes and synucleinopathy risk, the precise mechanisms by which GBA1 mutations lead to PD and DLB remain unclear. 22327140 2012
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE Despite the wealth of experimental, clinical and genetic evidence that supports the association between mutant genotypes and synucleinopathy risk, the precise mechanisms by which GBA1 mutations lead to PD and DLB remain unclear. 25573151 2015
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 Biomarker disease BEFREE For example, research has expanded our knowledge of the proteinaceous inclusions that characterize the disease, has provided an appreciation of the role of disease-associated processes such as inflammation and has revealed an association between DLB and genes such as GBA. 30559465 2019
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE Furthermore, genetic and clinicopathological studies have revealed mutations in the glucocerebrosidase 1 (GBA1) gene, which encodes a degrading enzyme for the glycolipid glucosylceramide (GlcCer), as strong risk factors for PD and DLB, and we recently demonstrated that GlcCer promotes toxic conversion of αSyn. 29305919 2018
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE Gaucher's disease is a lysosomal disease caused by mutations in the β-glucocerebrosidase gene ( GBA1 and GCase) that have been also linked to increased risk of Parkinson's disease (PD) and Diffuse Lewy body dementia. 30645117 2019
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE Glucocerebrosidase (GBA) gene variants are associated with the development of the Lewy body disorders (LBD) Parkinson disease (PD) and dementia with Lewy bodies (DLB). 29487000 2018
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 AlteredExpression disease BEFREE Here we measured the activity of GCase and other endo-lysosomal enzymes in different brain regions (frontal cortex, caudate, hippocampus, substantia nigra, cerebellum) from PD (n = 26), DLB (n = 16) and age-matched control (n = 13) subjects, screened for GBA mutations. 25881142 2015
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE Heterozygous mutations in glucocerebrosidase 1 (GBA1) are a major genetic risk factor for Parkinson's disease and Dementia with Lewy bodies. 29703245 2018
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 Biomarker disease BEFREE Lysosomal glucosidase beta acid (GBA) deficiency is inherent to Gaucher disease, Parkinsonism and Lewy-body dementia. 25552189 2015
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE More recently, association and exome sequencing studies in larger groups have been conducted, and have shown that several variants in GBA and the APOE ε4 allele are important genetic risk factors for DLB. 28734699 2017
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE Mutations in GBA1, the gene encoding glucocerebrosidase, are associated with an enhanced risk of developing synucleinopathies such as Parkinson's disease (PD) and dementia with Lewy bodies. 27126635 2016
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE Mutations in GBA1, the gene encoding the lysosomal hydrolase glucocerebrosidase, have been identified as the most common genetic risk factor for PD and DLB. 30236861 2019
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE Mutations in the glucosidase, beta, acid (GBA1) gene cause Gaucher's disease, and are the most common genetic risk factor for Parkinson's disease (PD) and dementia with Lewy bodies (DLB) excluding variants of low penetrance. 27019408 2016
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE Mutations in the GBA1 gene, which encodes the lysosomal enzyme Glucocerebrosidase1 are major risk factors for Parkinson's disease (PD) and dementia with Lewy bodies (DLB). 31203165 2019
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE Mutations in the gene glucocerebrosidase (GBA1) are specifically associated with alpha-synucleinopathies, namely, Parkinson's disease (PD) and dementia with Lewy bodies. 31670439 2020
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE Mutations in the glucocerebrosidase (GBA) gene have been reported to modify risk for Parkinson disease (PD) and dementia with Lewy bodies (DLB). 18332251 2008