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: rs75822236
rs75822236
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		0.710 GeneticVariation BEFREE An Israeli Ashkenazi cohort of 420 patients with PD, 333 elderly controls, and 3,805 young controls was screened for eight GBA mutations, which are associated with mild (N370S, R496H) and severe (84GG, IVS2 + 1, V394L, D409H, L444P, RecTL) Gaucher disease. 18434642 2008
dbSNP: rs75822236
rs75822236
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		T 0.710 CausalMutation CLINVAR Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621 2006
dbSNP: rs75822236
rs75822236
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		T 0.710 CausalMutation CLINVAR Identification of six new Gaucher disease mutations. 8432537 1993