KEGG   VARIANT: 2629v1
Entry
2629v1                      Variant                                

Name
GBA deficiency
Gene
GBA  glucosylceramidase beta [KO:K01201]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606463
Network
nt06014  Sphingolipid degradation
  Element
N00641  GBA deficiency in lactosylceramide hydrolysis
N00679  Glucosylceramide synthesis in GBA deficiency
N10017  Replacement of deficient GBA
N10018  UGCG inhibitor for deficient GBA
Drug target
Alglucerase: D02810
Imiglucerase: D03020<JP/US>
Taliglucerase alfa: D09675<US>
Velaglucerase alfa: D09029<JP/US>
LinkDB

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