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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:dihydropyrimidinase deficiency pathway
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Accession:PW:0002211 term browser browse the term
Definition:An autosomal recessive disorder resulting from alterations in pyrimidine degradation pathway due to mutations in dihydropyrimidinase gene (DPYS). DPYS catalyzes the second step in pyrimidine bases (uracil and thymine) catabolism.
Synonyms:related_synonym: SMP:00178

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dihydropyrimidinase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak3 adenylate kinase 3 ISO SMPDB SMP:00178 NCBI chrNW_004624736:9,428,736...9,494,645 JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00178 NCBI chrNW_004624738:9,318,213...9,340,765
Ensembl chrNW_004624738:9,318,232...9,340,925 		JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00178 NCBI chrNW_004624801:8,326,928...8,341,231
Ensembl chrNW_004624801:8,326,220...8,341,240 		JBrowse link
G Cda cytidine deaminase ISO SMPDB SMP:00178 NCBI chrNW_004624764:5,621,888...5,645,055
Ensembl chrNW_004624764:5,621,899...5,645,850 		JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00178 NCBI chrNW_004624846:3,417,672...3,432,207
Ensembl chrNW_004624846:3,417,626...3,430,516 		JBrowse link
G Ctps1 CTP synthase 1 ISO SMPDB SMP:00178 NCBI chrNW_004624892:376,800...421,850 JBrowse link
G Dctd dCMP deaminase ISO SMPDB SMP:00178 NCBI chrNW_004624769:13,649,603...13,674,578
Ensembl chrNW_004624769:13,649,016...13,674,590 		JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00178 NCBI chrNW_004624746:14,254,811...14,268,034
Ensembl chrNW_004624746:14,254,193...14,268,034 		JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00178 NCBI chrNW_004624763:20,618,515...20,680,790
Ensembl chrNW_004624763:20,620,380...20,680,782 		JBrowse link
G Dut deoxyuridine triphosphatase ISO SMPDB SMP:00178 NCBI chrNW_004624731:11,378,882...11,388,677
Ensembl chrNW_004624731:11,378,944...11,388,057 		JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00178 NCBI chrNW_004624736:836,283...914,616
Ensembl chrNW_004624736:836,286...914,409 		JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00178 NCBI chrNW_004624741:4,312,363...4,341,996
Ensembl chrNW_004624741:4,312,360...4,325,825 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00178 NCBI chrNW_004624730:73,414,124...73,421,161
Ensembl chrNW_004624730:73,414,798...73,419,261 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00178 NCBI chrNW_004624831:2,374,341...2,468,819
Ensembl chrNW_004624831:2,371,804...2,529,726 		JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00178 NCBI chrNW_004624865:4,984,353...4,990,187
Ensembl chrNW_004624865:4,985,620...4,990,120 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00178 NCBI chrNW_004624763:19,362,793...19,391,401
Ensembl chrNW_004624763:19,362,663...19,391,443 		JBrowse link
G Tk1 thymidine kinase 1 ISO SMPDB SMP:00178 NCBI chrNW_004624801:7,685,003...7,692,949
Ensembl chrNW_004624801:7,685,017...7,692,872 		JBrowse link
G Tymp thymidine phosphorylase ISO SMPDB SMP:00178 NCBI chrNW_004624752:251,670...256,243
Ensembl chrNW_004624752:252,937...256,244 		JBrowse link
G Tyms thymidylate synthetase ISO SMPDB SMP:00178 NCBI chrNW_004624770:11,138,673...11,149,600
Ensembl chrNW_004624770:11,138,652...11,149,600 		JBrowse link
G Uckl1 uridine-cytidine kinase 1 like 1 ISO SMPDB SMP:00178 NCBI chrNW_004624741:29,568,980...29,581,923
Ensembl chrNW_004624741:29,566,007...29,581,895 		JBrowse link
G Umps uridine monophosphate synthetase ISO SMPDB SMP:00178 NCBI chrNW_004624731:761,235...780,355
Ensembl chrNW_004624731:761,210...779,321 		JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00178 NCBI chrNW_004624747:9,911,323...9,940,770
Ensembl chrNW_004624747:9,911,448...9,940,537 		JBrowse link
G Upp2 uridine phosphorylase 2 ISO SMPDB SMP:00178 NCBI chrNW_004624732:7,574,609...7,641,345
Ensembl chrNW_004624732:7,597,782...7,644,423 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 3917
    disease pathway 670
      congenital disease pathway 493
        inborn genetic disease pathway 493
          inborn error of metabolism pathway 493
            inborn error of purine-pyrimidine metabolism pathway 105
              dihydropyrimidinase deficiency pathway 23
paths to the root