GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic
0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic
0.700 Biomarker disease GENOMICS_ENGLAND Hyperferritinemia and iron overload in type 1 Gaucher disease. 20575041 2010
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic
0.700 Biomarker disease GENOMICS_ENGLAND Gaucher disease: pathological mechanisms and modern management. 15813845 2005
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic
0.700 GermlineCausalMutation disease ORPHANET Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC). 10636167 2000
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic
0.700 GeneticVariation disease UNIPROT D409H/D409H genotype in Gaucher-like disease. 9040001 1997
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic
0.700 Biomarker disease GENOMICS_ENGLAND D409H/D409H genotype in Gaucher-like disease. 9040001 1997
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic
0.700 Biomarker disease GENOMICS_ENGLAND Hydrops fetalis associated with Gaucher disease. 6504764 1984
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic
0.700 GeneticVariation disease CLINVAR
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic
0.700 Biomarker disease CTD_human
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic
0.700 CausalMutation disease CLINVAR