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
  Element
N10015  Replacement of deficient GLA
Disease
H00125  Fabry disease
Drug target
Agalsidase alfa: D02784<JP>
Agalsidase beta: D03228<JP/US>
Reference
PMID:7504405
  Authors
Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ
  Title
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
  Journal
Am J Hum Genet 53:1186-97 (1993)
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