GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Gaucher Disease, Type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123532
rs398123532
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs398123532
rs398123532
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		A 0.800 CausalMutation CLINVAR