GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Gaucher Disease, Type 2 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.930 Biomarker disease GENOMICS_ENGLAND Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. 30712880 2019
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.930 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.930 Biomarker disease CTD_human Anti-apoptotic and Beneficial Metabolic Activities of Resveratrol in Type II Gaucher Disease. 26027833 2015
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.930 GeneticVariation disease UNIPROT Functional analysis of 11 novel GBA alleles. 24022302 2014
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.930 Biomarker disease CTD_human Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity. 21250698 2011
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		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
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.930 Biomarker disease GENOMICS_ENGLAND Hyperferritinemia and iron overload in type 1 Gaucher disease. 20575041 2010
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		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
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		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
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.930 GeneticVariation disease UNIPROT Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621 2006
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		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
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		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
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.930 GeneticVariation disease UNIPROT Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 10796875 2000
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		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
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.930 GeneticVariation disease UNIPROT A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease. 9851895 1998
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.930 GeneticVariation disease UNIPROT Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient. 9637431 1998
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.930 GeneticVariation disease UNIPROT Six new Gaucher disease mutations. 9554454 1998
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		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
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.930 Biomarker disease CTD_human Glucosylceramide metabolism is regulated during normal and hormonally stimulated epidermal barrier development in the rat. 9101438 1997
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.930 GeneticVariation disease UNIPROT Mutation analysis in 46 British and Irish patients with Gaucher's disease. 9279145 1997
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.930 Biomarker disease GENOMICS_ENGLAND D409H/D409H genotype in Gaucher-like disease. 9040001 1997
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.930 GeneticVariation disease UNIPROT Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease. 7627192 1995
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.930 Biomarker disease MGD Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. 1594045 1992
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.930 Biomarker disease GENOMICS_ENGLAND A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients. 1840477 1991
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.930 Biomarker disease GENOMICS_ENGLAND Hydrops fetalis associated with Gaucher disease. 6504764 1984