Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.690 GeneticVariation disease BEFREE The key DBS efficacy studies were performed in PD patients with unknown genotypes; however, given the estimated monogenic mutation prevalence of approximately 5-10%, most commonly LRRK2, PRKN, PINK1 and SNCA, and risk-increasing genetic factors such as GBA, proper characterization is becoming increasingly relevant. 30659355 2020
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.690 GeneticVariation disease BEFREE A GBA p.Trp378Gly mutation was identified in two RBD and four PD patients (1% of all patients combined), and not in controls. 29920646 2018
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.690 Biomarker disease GENOMICS_ENGLAND Glucocerebrosidase and Parkinson Disease: Molecular, Clinical, and Therapeutic Implications. 29400127 2018
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.690 GeneticVariation disease BEFREE We conducted a longitudinal analysis of Parkinson's disease (PD) patients carrying mutations in the GBA gene to better characterize genotype-phenotype correlations. 29784561 2018
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.690 GeneticVariation disease BEFREE Recent evidence suggests that glucosidase beta acid (GBA) mutations predispose Parkinson's disease (PD) patients to a greater burden of cognitive impairment and non-motor symptoms. 28777757 2017
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.690 AlteredExpression disease BEFREE β-glucocerebrosidase specific activity was also decreased in noncarrier PD patients versus controls (-25%, P < 0.001). 28843015 2017
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.690 Biomarker disease GENOMICS_ENGLAND Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's. 27717005 2016
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.690 GeneticVariation disease BEFREE We hypothesized that specific mutations in the β-glucocerebrosidase gene (GBA) causing neuropathic Gaucher's disease (GD) in homozygotes lead to aggressive cognitive decline in heterozygous Parkinson's disease (PD) patients, whereas non-neuropathic GD mutations confer intermediate progression rates. 27717005 2016
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.690 GeneticVariation disease BEFREE The discovery that E326K negatively impacts cognitive performance approximately doubles the proportion of PD patients we now recognize are at risk for more severe GBA-related cognitive deficits. 26296077 2016
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.690 Biomarker disease GENOMICS_ENGLAND "Glucocerebrosidase, Parkinson disease, and the ""senses and intellect""." 27779773 2016
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.690 Biomarker disease BEFREE The GBA-associated PD patients compared with non-mutation PD patients, although younger and with an earlier age at onset, show (1) a more rapid disease progression of motor impairment and cognitive decline and (2) reduced survival rates. 25448271 2015
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.690 GeneticVariation disease BEFREE In addition to the identification of the causes of monogenic forms of PD, significant progress has been made in defining genetic risk loci for PD; we discuss these here, including both risk variants at LRRK2 and GBA, in addition to discussing the results of recent genome-wide association studies and their implications for PD. 22806825 2012
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.690 Biomarker disease CTD_human
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.690 CausalMutation disease CLINVAR
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.690 SusceptibilityMutation disease CLINVAR