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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 7:49,047,833...49,087,790
Ensembl chr 7:49,047,902...49,087,783 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00206 NCBI chr 2:66,105,393...66,114,867
Ensembl chr 2:66,105,429...66,118,191 		JBrowse link
G FARSB phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00206 NCBI chr15:124,472,236...124,555,042 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00206 NCBI chr14:110,608,422...110,635,825
Ensembl chr14:110,608,430...110,635,874 		JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00206 NCBI chr 7:100,392,217...100,404,025
Ensembl chr 7:100,392,271...100,408,420 		JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00206 NCBI chr13:139,660,315...139,710,402
Ensembl chr13:139,660,343...139,710,404 		JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00206 NCBI chr14:30,845,608...30,857,658
Ensembl chr14:30,845,613...30,857,667 		JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00206 NCBI chr 6:54,906,401...54,945,840
Ensembl chr 6:54,906,406...54,916,081 		JBrowse link
G PAH phenylalanine hydroxylase ISO SMPDB SMP:00206 NCBI chr 5:81,385,401...81,460,569
Ensembl chr 5:81,385,435...81,463,451 		JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00206 NCBI chr 6:14,571,311...14,583,203
Ensembl chr 6:14,570,589...14,583,177 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00206 NCBI chr 6:89,088,122...89,118,837
Ensembl chr 6:89,088,544...89,119,592 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4047
    disease pathway 712
      nervous system disease pathway 445
        brain disease pathway 346
          inborn error of brain metabolic pathway 317
            phenylketonuria pathway 11
Path 2
Term Annotations click to browse term
  pathway 4047
    disease pathway 712
      nutritional and metabolic disease pathway 574
        metabolic disease pathway 535
          inborn error of metabolism pathway 518
            inborn error of amino acid metabolism pathway 226
              phenylketonuria pathway 11
paths to the root