KEGG   VARIANT: 1312v1
Entry
1312v1                      Variant                                
Name
COMT mutation
Type
Loss of function
Gene
COMT  catechol-O-methyltransferase [KO:K00545]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 116790
Network
nt06544  Neuroactive ligand signaling
Disease
H01649  Schizophrenia
Reference
PMID:12802784
  Authors
Bray NJ, Buckland PR, Williams NM, Williams HJ, Norton N, Owen MJ, O'Donovan MC
  Title
A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain.
  Journal
Am J Hum Genet 73:152-61 (2003)
DOI:10.1086/376578
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