KEGG   VARIANT: 3081v1
Entry
3081v1                      Variant                                
Name
HGD deficiency
Type
Loss of function
Gene
HGD  homogentisate 1,2-dioxygenase [KO:K00451]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607474
Network
nt06016  Phenylalanine and tyrosine metabolism
Disease
H00163  Alkaptonuria
Reference
PMID:19862842
  Authors
Vilboux T, Kayser M, Introne W, Suwannarat P, Bernardini I, Fischer R, O'Brien K, Kleta R, Huizing M, Gahl WA
  Title
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
  Journal
Hum Mutat 30:1611-9 (2009)
DOI:10.1002/humu.21120
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