Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 GeneticVariation BEFREE Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene. 31678773

2019
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 Biomarker 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
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 GeneticVariation BEFREE To explore this, we studied neuronopathic Gaucher disease (nGD), caused by mutations in GBA. 30013199

2018
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 Biomarker BEFREE Fluorinated Chaperone-β-Cyclodextrin Formulations for β-Glucocerebrosidase Activity Enhancement in Neuronopathic Gaucher Disease. 28171725

2017
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 Biomarker BEFREE Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry. 28040394

2017
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 Biomarker CTD_human Anti-apoptotic and Beneficial Metabolic Activities of Resveratrol in Type II Gaucher Disease. 26027833

2015
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 Biomarker 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: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 GeneticVariation UNIPROT Functional analysis of 11 novel GBA alleles. 24022302

2014
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 Biomarker CTD_human Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity. 21250698

2011
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 Biomarker 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
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 Biomarker GENOMICS_ENGLAND Hyperferritinemia and iron overload in type 1 Gaucher disease. 20575041

2010
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 Biomarker 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
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 GeneticVariation UNIPROT The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. 11933202

2002
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 Biomarker 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
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 Biomarker 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
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 Biomarker GENOMICS_ENGLAND D409H/D409H genotype in Gaucher-like disease. 9040001

1997
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 Biomarker 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
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 GeneticVariation 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
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 Biomarker 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
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 GeneticVariation 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
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 Biomarker GENOMICS_ENGLAND Hydrops fetalis associated with Gaucher disease. 6504764

1984
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 CausalMutation CLINVAR

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.770 GeneticVariation CLINVAR