KEGG   VARIANT: 6609v1
Entry
6609v1                      Variant                                

Name
SMPD1 deficiency
Gene
SMPD1  sphingomyelin phosphodiesterase 1 [KO:K12350]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607608
Network
nt06014  Sphingolipid degradation
  Element
N00650  SMPD1 deficiency in sphingolipid degradation
Drug target
Olipudase alfa: D10820
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