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Pathways
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PATHWAY ONTOLOGY - ANNOTATIONS

The Pathway Ontology (PW), is currently being developed at the Rat Genome Database. For more information about this vocabulary, please see Petri et al. The rat genome database pathway portal. Database (Oxford). 2011 Apr 8;2011:bar010. Print 2011 or contact us (http://rgd.mcw.edu/contact/index.shtml).
Term:phenylketonuria pathway
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Accession:PW:0001805 term browser browse the term
Definition:A group of autosomal recessive disorders resulting from alterations in amino acid metabolism, mostly due to deficiency of hepatic phenylalanine hydroxylase. The enzyme catalyzes the hydroxylation of phenylalanine to tyrosine.
Synonyms:exact_synonym: Følling's disease pathway;   PKU pathway;   phenylalaninemia pathway;   phenylketonuria disease pathway
 related_synonym: Phenylketonuria


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phenylketonuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00206 NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505 		JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00206 NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980 		JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00206 NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00206 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00206 NCBI chr 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284 		JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00206 NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323 		JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00206 NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766 		JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00206 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562 		JBrowse link
G Pah phenylalanine hydroxylase ISO SMPDB SMP:00206 NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00206 NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031 		JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00206 NCBI chr 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6092
    disease pathway 1954
      nervous system disease pathway 761
        brain disease pathway 350
          inborn error of brain metabolic pathway 319
            phenylketonuria pathway 11
Path 2
Term Annotations click to browse term
  pathway 6092
    disease pathway 1954
      nutritional and metabolic disease pathway 709
        metabolic disease pathway 666
          inborn error of metabolism pathway 530
            inborn error of amino acid metabolism pathway 229
              phenylketonuria pathway 11
paths to the root