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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:inborn error of urea cycle pathway
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Accession:PW:0002142 term browser browse the term
Definition:A rare congenital disorder resulting from alterations in the urea cycle pathway. The neonatal form exhibits several phenotypes and can result in death.
Synonyms:exact_synonym: inborn error of urea cycle disease pathway;   urea cycle disease pathway
 alt_id: PW:0002219

show annotations for term's descendants           Sort by:
 
3-methylcrotonyl CoA carboxylase 1 deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00237 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00237 NCBI chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00237 NCBI chr 8:28,023,401...28,044,967
Ensembl chr 8:28,024,123...28,044,876 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00237 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00237 NCBI chr12:47,254,503...47,263,747
Ensembl chr12:47,254,484...47,263,747 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00237 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00237 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00237 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00237 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00237 NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00237 NCBI chr17:12,310,178...12,405,224
Ensembl chr17:12,310,214...12,405,205 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00237 NCBI chr 4:179,259,305...179,340,021
Ensembl chr 4:179,259,308...179,339,795 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00237 NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00237 NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00237 NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00237 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00237 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
Ensembl chr 1:212,570,195...212,579,057 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00237 NCBI chr 4:82,604,369...82,702,429
Ensembl chr 4:82,604,373...82,702,429 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00237 NCBI chr 9:53,446,185...53,526,727
Ensembl chr 9:53,446,194...53,526,728 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00237 NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00237 NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00237 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00237 NCBI chr 3:110,669,355...110,689,789
Ensembl chr 3:110,669,312...110,690,173 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00237 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00237 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00237 NCBI chr 1:125,229,487...125,252,692
Ensembl chr 1:125,229,469...125,252,666 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00237 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00237 NCBI chr 2:53,859,738...54,007,733
Ensembl chr 2:53,859,737...54,007,756 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00237 NCBI chr15:108,960,509...109,306,879
Ensembl chr15:108,960,562...109,306,603 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00237 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872 		JBrowse link
argininosuccinic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00003 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00003 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00003 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00003 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274 		JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00003 NCBI chr 7:2,605,679...2,621,853
Ensembl chr 7:2,605,719...2,621,852 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00003 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00003 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00003 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00003 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069 		JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00003 NCBI chr14:104,582,884...104,612,417
Ensembl chr14:104,581,190...104,612,597 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00003 NCBI chr 1:78,710,686...78,724,789
Ensembl chr 1:78,710,539...78,724,794 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00003 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00003 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529 		JBrowse link
carbamoyl phosphate synthetase I deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00002 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274 		JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chr 7:2,605,679...2,621,853
Ensembl chr 7:2,605,719...2,621,852 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00002 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00002 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069 		JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chr14:104,582,884...104,612,417
Ensembl chr14:104,581,190...104,612,597 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chr 1:78,710,686...78,724,789
Ensembl chr 1:78,710,539...78,724,794 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529 		JBrowse link
citrullinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00001 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00001 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00001 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00001 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274 		JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00001 NCBI chr 7:2,605,679...2,621,853
Ensembl chr 7:2,605,719...2,621,852 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00001 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00001 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00001 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00001 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069 		JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00001 NCBI chr14:104,582,884...104,612,417
Ensembl chr14:104,581,190...104,612,597 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00001 NCBI chr 1:78,710,686...78,724,789
Ensembl chr 1:78,710,539...78,724,794 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00001 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00001 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529 		JBrowse link
hyperargininemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00357 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00357 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00357 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00357 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274 		JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00357 NCBI chr 7:2,605,679...2,621,853
Ensembl chr 7:2,605,719...2,621,852 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00357 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00357 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00357 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00357 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069 		JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00357 NCBI chr14:104,582,884...104,612,417
Ensembl chr14:104,581,190...104,612,597 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00357 NCBI chr 1:78,710,686...78,724,789
Ensembl chr 1:78,710,539...78,724,794 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00357 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00357 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529 		JBrowse link
ornithine translocase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00506 NCBI chr 5:158,090,238...158,115,725
Ensembl chr 5:158,042,587...158,135,733 		JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00506 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00506 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00506 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826 		JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00506 NCBI chr 6:136,142,956...136,145,838
Ensembl chr 6:136,142,956...136,145,837 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00506 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274 		JBrowse link
G Dao D-amino-acid oxidase ISO SMPDB SMP:00506 NCBI chr12:48,353,691...48,373,647
Ensembl chr12:48,354,196...48,365,784 		JBrowse link
G Eprs glutamyl-prolyl-tRNA synthetase ISO SMPDB SMP:00506 NCBI chr13:103,300,911...103,371,651
Ensembl chr13:103,300,932...103,371,577 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00506 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00506 NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00506 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00506 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00506 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341 		JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00506 NCBI chr 1:204,562,289...204,582,070
Ensembl chr 1:204,562,289...204,582,070 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00506 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069 		JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00506 NCBI chr 1:165,295,835...165,330,922
Ensembl chr 1:165,295,847...165,330,322 		JBrowse link
G Prodh1 proline dehydrogenase 1 ISO SMPDB SMP:00506 NCBI chr11:87,058,478...87,075,785
Ensembl chr11:87,058,616...87,075,785 		JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00506 NCBI chr13:99,184,624...99,188,418
Ensembl chr13:99,184,564...99,188,431 		JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00506 NCBI chr 5:50,075,510...50,127,625
Ensembl chr 5:50,075,527...50,127,424 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00506 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6103
    disease pathway 1957
      nervous system disease pathway 761
        brain disease pathway 350
          inborn error of brain metabolic pathway 319
            inborn error of urea cycle pathway 56
              3-methylcrotonyl CoA carboxylase 1 deficiency pathway 30
              3-methylcrotonyl CoA carboxylase 2 deficiency pathway 0
              argininosuccinic aciduria pathway 13
              carbamoyl phosphate synthetase I deficiency pathway 13
              citrullinemia pathway 13
              hyperargininemia pathway 13
              ornithine translocase deficiency pathway 20
Path 2
Term Annotations click to browse term
  pathway 6103
    disease pathway 1957
      nutritional and metabolic disease pathway 709
        metabolic disease pathway 666
          inborn error of metabolism pathway 529
            inborn error of amino acid metabolism pathway 229
              inborn error of urea cycle pathway 56
                3-methylcrotonyl CoA carboxylase 1 deficiency pathway 30
                3-methylcrotonyl CoA carboxylase 2 deficiency pathway 0
                argininosuccinic aciduria pathway 13
                carbamoyl phosphate synthetase I deficiency pathway 13
                citrullinemia pathway 13
                hyperargininemia pathway 13
                ornithine translocase deficiency pathway 20
paths to the root