KEGG   VARIANT: 5053v1
Entry
5053v1                      Variant                                
Name
PAH deficiency
Gene
PAH  phenylalanine hydroxylase [KO:K00500]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612349
Network
nt06016  Phenylalanine and tyrosine metabolism
Disease
H00167  Phenylketonuria
Drug target
Pegvaliase: D11077<JP/US>
Reference
PMID:25596310
  Authors
Danecka MK, Woidy M, Zschocke J, Feillet F, Muntau AC, Gersting SW
  Title
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
  Journal
J Med Genet 52:175-85 (2015)
DOI:10.1136/jmedgenet-2014-102621
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