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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:hawkinsinuria pathway
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Accession:PW:0002380 term browser browse the term
Definition:An autosomal dominant condition resulting from alterations in amino acid metabolism due to defects in the 4-hydroxyphenylpyruvate dioxygenase (HPD) gene.
Synonyms:exact_synonym: hawkinsinuria disease pathway
 related_synonym: SMP:00190


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hawkinsinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00190 NCBI chr 5:40,466,237...40,474,272
Ensembl chr 5:40,466,237...40,474,457 		JBrowse link
G AOC1 amine oxidase copper containing 1 ISO SMPDB SMP:00190 NCBI chr16:14,955,528...14,963,283
Ensembl chr16:14,958,658...15,036,651 		JBrowse link
G COMT catechol-O-methyltransferase ISO SMPDB SMP:00190 NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008 		JBrowse link
G DBH dopamine beta-hydroxylase ISO SMPDB SMP:00190 NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130 		JBrowse link
G DCT dopachrome tautomerase ISO SMPDB SMP:00190 NCBI chr22:45,271,709...45,305,272
Ensembl chr22:45,271,709...45,305,346 		JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00190 NCBI chr18:1,802,239...1,876,714
Ensembl chr18:1,803,273...1,867,616 		JBrowse link
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00190 NCBI chr 3:57,300,422...57,326,546
Ensembl chr 3:57,300,441...57,326,486 		JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00190 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579 		JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00190 NCBI chr 8:50,133,496...50,143,487
Ensembl chr 8:50,133,714...50,143,439 		JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00190 NCBI chr10:45,368,157...45,379,521
Ensembl chr10:45,368,178...45,379,160 		JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00190 NCBI chr33:24,066,099...24,107,827
Ensembl chr33:24,066,306...24,151,354 		JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00190 NCBI chr26:7,430,891...7,440,643
Ensembl chr26:7,430,933...7,440,611 		JBrowse link
G LOC100856533 alcohol dehydrogenase E chain ISO SMPDB SMP:00190 NCBI chr32:21,422,428...21,437,058 JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00190 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757 		JBrowse link
G MIF macrophage migration inhibitory factor ISO SMPDB SMP:00190
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00190 NCBI chr 9:22,808,505...22,810,587
Ensembl chr 9:22,808,601...22,810,551 		JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00190 NCBI chr 5:77,365,589...77,378,474
Ensembl chr 5:77,366,138...77,378,419 		JBrowse link
G TYR tyrosinase ISO SMPDB SMP:00190 NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4052
    disease pathway 717
      congenital disease pathway 519
        inborn genetic disease pathway 519
          inborn error of metabolism pathway 519
            inborn error of amino acid metabolism pathway 229
              hawkinsinuria pathway 18
paths to the root