×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
CausalMutation
disease
CLINVAR
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
GeneticVariation
disease
CLINVAR
×
Entrez Id:
947
Gene Symbol:
CD34
CD34
0.010
Biomarker
disease
BEFREE
Whole-marrow mononuclear cells and CD34 -enriched cells from a 4-yr-old female with type 3 Gaucher disease were transduced by the L-GC vector and studied in long-term bone marrow culture (LTBMC).
1379609
1992
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
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
0.770
GeneticVariation
disease
BEFREE
A MspI polymorphism was detected in the beta-glucocerebrosidase gene in 10 Swedish families affected by type III Gaucher's disease .
2468600
1988
×
Entrez Id:
2630
Gene Symbol:
GBAP1
GBAP1
0.050
GeneticVariation
disease
BEFREE
A MspI polymorphism was detected in the beta-glucocerebrosidase gene in 10 Swedish families affected by type III Gaucher's disease .
2468600
1988
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
GENOMICS_ENGLAND
Hydrops fetalis associated with Gaucher disease.
6504764
1984
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
GeneticVariation
disease
UNIPROT
Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.
8780099
1996
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
GENOMICS_ENGLAND
D409H/D409H genotype in Gaucher-like disease.
9040001
1997
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
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
0.770
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
0.770
Biomarker
disease
BEFREE
We report the first characterization of a GBA genotype associated with the development of neutralizing antibody to alglucerase , in a patient affected with type 3 Gaucher disease .
11600137
2001
×
Entrez Id:
2630
Gene Symbol:
GBAP1
GBAP1
0.050
Biomarker
disease
BEFREE
We report the first characterization of a GBA genotype associated with the development of neutralizing antibody to alglucerase , in a patient affected with type 3 Gaucher disease .
11600137
2001
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
GeneticVariation
disease
UNIPROT
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
11933202
2002
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
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:
1636
Gene Symbol:
ACE
ACE
0.300
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:
1118
Gene Symbol:
CHIT1
CHIT1
0.300
Biomarker
disease
CTD_human
Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.
17464953
2007
×
Entrez Id:
6622
Gene Symbol:
SNCA
SNCA
0.310
Biomarker
disease
CTD_human
Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism.
19576930
2009
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
GENOMICS_ENGLAND
Hyperferritinemia and iron overload in type 1 Gaucher disease.
20575041
2010
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
CTD_human
Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity.
21250698
2011
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
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:
6750
Gene Symbol:
SST
SST
0.010
Biomarker
disease
BEFREE
Patients with acute NGD revealed higher m-SST (P = 0.001) and Ch/Cr (P = 0.001) compared with the chronic form.
23783781
2013
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
GeneticVariation
disease
UNIPROT
Functional analysis of 11 novel GBA alleles.
24022302
2014
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
BEFREE
These studies implicate defective GCase function and GC/GS accumulation as risk factors for mitochondrial dysfunction and the multi-proteinopathies (α-synuclein-, APP- and Aβ-aggregates) in nGD .
24599400
2014
×
Entrez Id:
6622
Gene Symbol:
SNCA
SNCA
0.310
Biomarker
disease
BEFREE
These studies implicate defective GCase function and GC/GS accumulation as risk factors for mitochondrial dysfunction and the multi-proteinopathies (α-synuclein -, APP- and Aβ-aggregates) in nGD .
24599400
2014