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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 (https://rgd.mcw.edu/rgdweb/contact/contactus.html).
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 chr10:46,392,464...46,402,151
Ensembl chr10:45,892,924...45,902,681 		JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO SMPDB SMP:00190 NCBI chr 4:79,143,126...79,162,705
Ensembl chr 4:77,812,260...77,831,840 		JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00190 NCBI chr11:96,072,371...96,091,956
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00190 NCBI chr 3:30,886,313...30,903,313
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00190 NCBI chr15:101,469,159...101,508,029
Ensembl chr15:95,062,003...95,100,836 		JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00190 NCBI chr14:90,592,304...90,682,830
Ensembl chr14:86,378,685...86,469,208 		JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00190 NCBI chr 1:147,957,931...147,980,708
Ensembl chr 1:138,548,834...138,571,505 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00190 NCBI chr 1:252,306,541...252,337,622
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00190 NCBI chr 6:112,525,576...112,536,228
Ensembl chr 6:106,794,074...106,805,284 		JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00190 NCBI chr 6:16,598,325...16,617,590
Ensembl chr 6:10,845,771...10,864,877 		JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00190 NCBI chr11:76,592,202...76,643,776
Ensembl chr11:63,086,752...63,138,323 		JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00190 NCBI chr12:39,042,246...39,053,596
Ensembl chr12:33,381,231...33,392,766 		JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00190 NCBI chr  X:8,615,239...8,681,372
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Mif macrophage migration inhibitory factor ISO SMPDB SMP:00190 NCBI chr20:12,767,138...12,791,222
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504 		JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO SMPDB SMP:00190 NCBI chr10:83,881,211...83,882,849
Ensembl chr10:83,384,923...83,386,556 		JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00190 NCBI chr19:54,856,604...54,867,168
Ensembl chr19:37,947,112...37,958,031 		JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00190 NCBI chr 1:150,527,687...150,622,857
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6091
    disease pathway 1954
      congenital disease pathway 530
        inborn genetic disease pathway 530
          inborn error of metabolism pathway 530
            inborn error of amino acid metabolism pathway 229
              hawkinsinuria pathway 17
paths to the root