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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 chr 1:236,151,012...236,178,689
Ensembl chr 1:226,739,318...226,764,625 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00178 NCBI chr 6:31,012,091...31,035,098
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00178 NCBI chr10:104,135,676...104,148,854
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
G Cda cytidine deaminase ISO SMPDB SMP:00178 NCBI chr 5:155,839,929...155,866,541
Ensembl chr 5:150,556,615...150,583,231 		JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00178 NCBI chr 6:48,802,150...48,813,652
Ensembl chr 6:43,073,796...43,085,183 		JBrowse link
G Ctps1 CTP synthase 1 ISO SMPDB SMP:00178 NCBI chr 5:139,372,349...139,440,441
Ensembl chr 5:134,125,025...134,154,180 		JBrowse link
G Dctd dCMP deaminase ISO SMPDB SMP:00178 NCBI chr16:50,799,699...50,831,398
Ensembl chr16:44,055,128...44,098,446 		JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO SMPDB SMP:00178 NCBI chr19:54,460,636...54,483,049
Ensembl chr19:37,558,177...37,591,654 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00178 NCBI chr 2:209,293,902...210,159,777
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00178 NCBI chr 7:72,707,566...72,814,183
Ensembl chr 7:70,835,789...70,929,231 		JBrowse link
G Dut deoxyuridine triphosphatase ISO SMPDB SMP:00178 NCBI chr 3:132,952,258...132,963,433
Ensembl chr 3:112,498,982...112,510,771 		JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00178 NCBI chr 1:228,333,401...228,408,901
Ensembl chr 1:218,906,815...218,982,416 		JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00178 NCBI chr 3:138,338,549...138,350,329
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00178 NCBI chr 8:118,708,092...118,717,756
Ensembl chr 8:109,832,589...109,839,301 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00178 NCBI chr 1:255,712,797...255,838,285
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00178 NCBI chr 6:47,044,755...47,075,370
Ensembl chr 6:41,340,557...41,346,773 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00178 NCBI chr 7:70,962,008...70,993,726
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
G Tk1 thymidine kinase 1 ISO SMPDB SMP:00178 NCBI chr10:103,533,449...103,544,818
Ensembl chr10:103,031,521...103,046,920 		JBrowse link
G Tymp thymidine phosphorylase ISO SMPDB SMP:00178 NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
G Tyms thymidylate synthetase ISO SMPDB SMP:00178 NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:113,313,452...113,329,536 		JBrowse link
G Uckl1 uridine-cytidine kinase 1-like 1 ISO SMPDB SMP:00178 NCBI chr 3:189,052,365...189,064,939
Ensembl chr 3:168,674,849...168,698,091 		JBrowse link
G Umps uridine monophosphate synthetase ISO SMPDB SMP:00178 NCBI chr11:80,311,269...80,321,678
Ensembl chr11:66,806,045...66,821,903 		JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00178 NCBI chr20:13,216,693...13,243,016
Ensembl chr20:13,217,258...13,243,590 		JBrowse link
G Upp2 uridine phosphorylase 2 ISO SMPDB SMP:00178 NCBI chr 3:63,681,671...63,726,194
Ensembl chr 3:43,273,048...43,317,417 		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 purine-pyrimidine metabolism pathway 110
              dihydropyrimidinase deficiency pathway 24
paths to the root