GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Gaucher Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61748906
rs61748906
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		G 0.700 CausalMutation CLINVAR Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells. 26220978 2015
dbSNP: rs61748906
rs61748906
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		G 0.700 CausalMutation CLINVAR Detection of 12 new mutations in Gaucher disease Brazilian patients. 17059888 2007
dbSNP: rs61748906
rs61748906
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		G 0.700 CausalMutation CLINVAR Novel point mutation (W184R) in neonatal type 2 Gaucher disease. 10679038 2000
dbSNP: rs61748906
rs61748906
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		G 0.700 CausalMutation CLINVAR Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients. 10757640 2000