Source: GENOMICS_ENGLAND

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 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 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 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 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 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 Biomarker GENOMICS_ENGLAND Hydrops fetalis associated with Gaucher disease. 6504764

1984