KEGG   VARIANT: 2629v1
Entry
2629v1                      Variant                                
Name
GBA deficiency
Gene
GBA1  glucosylceramidase beta 1 [KO:K01201]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606463
Network
nt06014  Sphingolipid degradation
Disease
H00126  Gaucher disease
H00423  Sphingolipidosis
Drug target
Alglucerase: D02810
Imiglucerase: D03020<JP/US>
Taliglucerase alfa: D09675<US>
Velaglucerase alfa: D09029<JP/US>
Reference
PMID:2349952
  Authors
Latham T, Grabowski GA, Theophilus BD, Smith FI
  Title
Complex alleles of the acid beta-glucosidase gene in Gaucher disease.
  Journal
Am J Hum Genet 47:79-86 (1990)
Reference
  Authors
Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, Tayebi N, Sidransky E
  Title
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
  Journal
Am J Hum Genet 66:1777-86 (2000)
DOI:10.1086/302925
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