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: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		0.700 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: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		0.700 Biomarker GENOMICS_ENGLAND Gaucher disease: pathological mechanisms and modern management. 15813845

2005
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		0.700 Biomarker GENOMICS_ENGLAND Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. 10649495

2000
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		0.700 Biomarker GENOMICS_ENGLAND D409H/D409H genotype in Gaucher-like disease. 9040001

1997
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		0.700 Biomarker GENOMICS_ENGLAND Hydrops fetalis associated with Gaucher disease. 6504764

1984