|
Stomach Carcinoma
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
SNP rs2990245, which is located in the promoter of pseudogene GBAP1, was associated with GC risk using GWASs data.
|
30951202 |
2019 |
|
Stomach Carcinoma
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study identifies gastric cancer susceptibility loci at 12q24.11-12 and 20q11.21.
|
30281874 |
2018 |
|
Stomach Carcinoma
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Loss-of-function variants in ATM confer risk of gastric cancer.
|
26098866 |
2015 |
|
Gaucher Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Enzyme analysis revealed low levels of beta-glucocerebrosidase with normal acid sphingomyelinase levels confirming GD.
|
31565589 |
2019 |
|
Gaucher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Gaucher's disease (GD) is the most commonly known lysosomal disorder that occurs due to mutations in the β-glucocerebrosidase (GBA) protein.
|
30635084 |
2019 |
|
Gaucher Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Gaucher disease (GD) is caused by deficiency of beta-glucocerebrosidase (GCase) due to biallelic variations in the GBA1 gene.
|
31077260 |
2019 |
|
Gaucher Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Ambroxol is a pharmacological chaperone (PC) for Gaucher disease that increases lysosomal activity of misfolded β-glucocerebrosidase (GCase) while displaying a safe toxicological profile.
|
31222941 |
2019 |
|
Gaucher Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Intravenous infusion of iPSC-derived neural precursor cells increases acid β-glucosidase function in the brain and lessens the neuronopathic phenotype in a mouse model of Gaucher disease.
|
31373366 |
2019 |
|
Gaucher Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Production of recombinant human acid β-glucosidase with high mannose-type N-glycans in rice gnt1 mutant for potential treatment of Gaucher disease.
|
30822514 |
2019 |
|
Gaucher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Background Gaucher disease (GD) is a lysosomal storage disorder caused by autosomal recessive mutations in the glucocerebrosidase (GBA) gene, which encodes acid β-glucosidase.
|
31026225 |
2019 |
|
Gaucher Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Effect of imiglucerase enzyme replacement therapy on Hepatopulmonary Syndrome in Gaucher Disease.
|
31309038 |
2019 |
|
Glomerular Filtration Rate
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.
|
31015462 |
2019 |
|
Parkinson Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Our findings point to activation of wild-type GCase by small-molecule modulators as a potential therapeutic approach for treating familial and sporadic forms of PD that exhibit decreased GCase activity.
|
31619543 |
2019 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The L444P mutation in the GBA1 gene which encodes β-glucocerebrosidase-1, is a major risk factor for developing Parkinson's disease (PD) and dementia with Lewy bodies (DLB).
|
31539859 |
2019 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
One of the leading genetic risk factors for Parkinson's disease is being a carrier in the gene for β-Glucocerebrosidase (GCase; gene name GBA1).
|
30738426 |
2019 |
|
Parkinson Disease
|
0.100 |
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 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in GBA, the gene encoding the lysosomal enzyme glucosylceramidase beta/β-glucocerebrosidase, comprise the most common genetic risk factor for Parkinson disease (PD), but the mechanisms underlying this association remain unclear.
|
30160596 |
2019 |
|
Parkinson Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The reduction of GCase activity in the CSF of PD and DLB patients was validated in several of them, whereas the behaviour of other lysosomal enzyme activities was not consistently reliable among the studies.
|
30922855 |
2019 |
|
Gaucher Disease, Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Gaucher disease is an inherited metabolic disease caused by genetic acid β -glucosidase (GBA) deficiency and is currently treated by enzyme replacement therapy.
|
30822514 |
2019 |
|
Gaucher Disease, Type 1
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
This study provides novel pharmacokinetic data that support current imiglucerase administration regimens and suggests the existence of a glucocerebrosidase activity threshold related to Gaucher disease type 1 aggressiveness.
|
30128966 |
2019 |
|
Gaucher Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The diagnosis of GD was based on the acid β-glucocerebrosidase (GBA) enzyme activity and direct sequencing of the GBA gene.
|
29934114 |
2018 |
|
Gaucher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This multicenter extension study assessed the efficacy and safety of taliglucerase alfa in pediatric patients with GD who were treatment-naïve (n=10) or switched from imiglucerase (n=5).
|
27839981 |
2018 |
|
Gaucher Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Gaucher disease (GD) is the most common lysosomal storage disease caused by deficiency of beta-glucocerebrosidase (GCase) resulting in lysosomal accumulation of its glycolipid substrate glucosylceramide.
|
29699937 |
2018 |
|
Gaucher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Gaucher disease (GD) is an autosomal recessive disorder that leads to multiorgan complications caused by β-glucocerebrosidase deficiency due to mutations in the β-glucocerebrosidase-encoding gene (GBA).
|
29979419 |
2018 |
|
Gaucher Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Gaucher disease (GD) is a rare autosomal recessive disorder caused by deficient activity of β-glucocerebrosidase resulting in the accumulation of glucosylceramide.
|
30099023 |
2018 |