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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 (

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 chr10:47,490,168...47,499,855
Ensembl chr10:47,490,153...47,499,876
JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO SMPDB SMP:00190 NCBI chr 4:78,496,043...78,515,582
Ensembl chr 4:78,496,043...78,515,584
JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00190 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00190 NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00190 NCBI chr15:103,208,174...103,245,033
Ensembl chr15:103,208,258...103,244,494
JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00190 NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00190 NCBI chr 1:146,713,663...146,736,339
Ensembl chr 1:146,713,676...146,736,261
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00190 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00190 NCBI chr 6:111,176,798...111,187,246
Ensembl chr 6:111,176,798...111,187,244
JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00190 NCBI chr 6:7,045,145...7,059,227
Ensembl chr 6:7,045,152...7,058,314
JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00190 NCBI chr11:65,983,221...66,034,555
Ensembl chr11:65,983,221...66,034,573
JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00190 NCBI chr12:38,828,606...38,839,956
Ensembl chr12:38,828,444...38,839,969
JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00190 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
JBrowse link
G Mif macrophage migration inhibitory factor ISO SMPDB SMP:00190 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO SMPDB SMP:00190 NCBI chr10:86,340,893...86,342,501
Ensembl chr10:86,340,940...86,342,858
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00190 NCBI chr19:41,675,639...41,686,195
Ensembl chr19:41,675,355...41,686,229
JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00190 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link

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Path 1
Term Annotations click to browse term
  pathway 6103
    disease pathway 1957
      congenital disease pathway 529
        inborn genetic disease pathway 529
          inborn error of metabolism pathway 529
            inborn error of amino acid metabolism pathway 229
              hawkinsinuria pathway 17
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