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: rs121908309
rs121908309
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		A 0.700 CausalMutation CLINVAR Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S. 27222815 2016
dbSNP: rs121908309
rs121908309
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		A 0.700 CausalMutation CLINVAR Novel pathogenic mutations in the glucocerebrosidase locus. 22658918 2012
dbSNP: rs121908309
rs121908309
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		A 0.700 CausalMutation CLINVAR Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. 10649495 2000
dbSNP: rs121908309
rs121908309
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		A 0.700 CausalMutation CLINVAR Glucocerebrosidase mutations in Gaucher disease. 8790604 1994