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: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 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: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 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: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 Biomarker GENOMICS_ENGLAND Gaucher disease, the most common lysosomal storage disorder, is caused by the defective activity of the lysosomal enzyme, acid-beta-glucosidase (GlcCerase), leading to accumulation of glucosylceramide (GlcCer), particularly in cells of the macrophage lineage. 15813845

2005
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.900 Biomarker GENOMICS_ENGLAND Hydrops fetalis associated with Gaucher disease. 6504764

1984