×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
Biomarker
disease
GENOMICS_ENGLAND
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
30712880
2019
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
Biomarker
disease
CTD_human
Anti-apoptotic and Beneficial Metabolic Activities of Resveratrol in Type II Gaucher Disease.
26027833
2015
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
GeneticVariation
disease
UNIPROT
Functional analysis of 11 novel GBA alleles.
24022302
2014
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
Biomarker
disease
CTD_human
Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity.
21250698
2011
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
Biomarker
disease
CTD_human
New glucocerebrosidase inhibitors by exploration of chemical diversity of N-substituted aminocyclitols using click chemistry and in situ screening.
21370884
2011
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
Biomarker
disease
GENOMICS_ENGLAND
Hyperferritinemia and iron overload in type 1 Gaucher disease.
20575041
2010
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
GeneticVariation
disease
UNIPROT
Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.
21098288
2010
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
Biomarker
disease
BEFREE
Phase separation also occurs in type II Gaucher disease (GD; from accumulation of glucosylceramides as a result of to beta-glucocerebrosidase deficiency).
18245815
2008
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
GeneticVariation
disease
UNIPROT
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
16293621
2006
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
Biomarker
disease
CTD_human
Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy.
12359135
2003
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
Biomarker
disease
CTD_human
Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
10757640
2000
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
GeneticVariation
disease
UNIPROT
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
10796875
2000
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
GeneticVariation
disease
BEFREE
Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease .
10079102
1999
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
GeneticVariation
disease
UNIPROT
A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.
9851895
1998
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
GeneticVariation
disease
UNIPROT
Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient.
9637431
1998
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
GeneticVariation
disease
UNIPROT
Six new Gaucher disease mutations.
9554454
1998
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
GeneticVariation
disease
BEFREE
Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.
9153297
1997
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
Biomarker
disease
CTD_human
Glucosylceramide metabolism is regulated during normal and hormonally stimulated epidermal barrier development in the rat.
9101438
1997
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
GeneticVariation
disease
UNIPROT
Mutation analysis in 46 British and Irish patients with Gaucher's disease.
9279145
1997
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
Biomarker
disease
GENOMICS_ENGLAND
D409H/D409H genotype in Gaucher-like disease.
9040001
1997
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
GeneticVariation
disease
UNIPROT
Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease.
7627192
1995
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
Biomarker
disease
MGD
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene.
1594045
1992
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
Biomarker
disease
GENOMICS_ENGLAND
A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.
1840477
1991
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.930
Biomarker
disease
GENOMICS_ENGLAND
Hydrops fetalis associated with Gaucher disease.
6504764
1984