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: rs77829017
rs77829017
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		T 0.700 CausalMutation CLINVAR A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease. 25829804 2015
dbSNP: rs77829017
rs77829017
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		T 0.700 CausalMutation CLINVAR Clinical and genetic characteristics of Korean patients with Gaucher disease. 20729108 2011