GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Sporadic Parkinson disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		0.090 Biomarker disease BEFREE Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson's Disease and Dementia with Lewy Bodies. 29948939 2019
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		0.090 Biomarker disease BEFREE The characteristic clinical phenotype of GBA1-PD resembles sporadic Parkinson disease, but with an earlier onset and more severe course. 31188151 2019
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		0.090 GeneticVariation disease BEFREE Haploinsufficiency of the GBA gene, leading to a reduction in glucocerebrosidase (GCase) activity, is one of the most common genetic risk factors for PD. 29735433 2018
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		0.090 GeneticVariation disease BEFREE Parkin levels were slightly increased only in the PD group without GBA1 mutations and were not significantly modified by ambroxol. 26094596 2015
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		0.090 GeneticVariation disease BEFREE We investigated relationships between Parkinson's disease-specific glucocerebrosidase deficits, glucocerebrosidase-related pathways, and α-synuclein levels in brain tissue from subjects with sporadic Parkinson's disease without GBA1 mutations. 24477431 2014
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		0.090 GeneticVariation disease BEFREE About one-third of patients with sporadic Parkinson disease (PD) and more than 40% of patients with familial PD of Ashkenazi Jewish descent likely carry the G2019S mutation in the LRRK2 gene, a mutation in the glucocerebrosidase (GBA) gene, or both. 25347348 2014
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		0.090 GeneticVariation disease BEFREE Mutations in the LRRK2 and GBA genes are increasingly recognized as frequent determinants of familial and sporadic Parkinson's disease (PD). 23726462 2013
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		0.090 GeneticVariation disease BEFREE β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease. 21745757 2012
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		0.090 GeneticVariation disease BEFREE Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China. 20004703 2010