Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 5053
  • Symbol: PAH
  • Description: phenylalanine hydroxylase

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Disease_Term Source Rank Other Values
Phenylketonuria, 261600 (3) OMIM high
  • Genome region : 12q23.2
  • OMIM_ID : 261600 OMIM phenotype ID
  • OMIM_ID : 612349 OMIM gene ID
[Hyperphenylalaninemia, non-PKU mild], 261600 (3) OMIM high
  • Genome region : 12q23.2
  • OMIM_ID : 261600 OMIM phenotype ID
  • OMIM_ID : 612349 OMIM gene ID
Metabolite levels (small molecules and protein measures) GWAS high
Amino acid levels GWAS high
Blood metabolite levels GWAS high