KEGG   VARIANT: 2717v1
Entry
2717v1                      Variant                                

Name
GLA deficiency
Gene
GLA  galactosidase alpha [KO:K01189]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300644
Network
nt06014  Sphingolipid degradation
  Element
N00645  GLA deficiency in galabiosylceramide hydrolysis
N10015  Replacement of deficient GLA
Drug target
Agalsidase alfa: D02784<JP>
Agalsidase beta: D03228<JP/US>

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