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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 amino acid metabolism pathway
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Accession:PW:0001645 term browser browse the term
Definition:Those diseases that are caused by inborn errors of amino acid metabolism. The mutations can disrupt one or several pathways.
Synonyms:exact_synonym: inborn error of amino acid metabolism disease pathway


show annotations for term's descendants           Sort by:
2-aminoadipic 2-oxoadipic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadat aminoadipate aminotransferase ISO SMPDB SMP:00719 NCBI chr16:29,509,392...29,544,332
Ensembl chr16:29,509,394...29,544,332 		JBrowse link
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00719 NCBI chr 4:51,606,461...51,663,136
Ensembl chr 4:51,606,462...51,663,136 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00719 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO SMPDB SMP:00719 NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193 		JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00719 NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00719 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00719 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00719 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353 		JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00719 NCBI chr10:62,769,874...62,783,484
Ensembl chr10:62,769,900...62,782,370 		JBrowse link
G Slc25a2 solute carrier family 25 member 2 ISO SMPDB SMP:00719 NCBI chr18:29,452,943...29,456,324
Ensembl chr18:29,453,582...29,460,383 		JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00719 NCBI chr16:51,417,478...51,470,784
Ensembl chr16:51,417,493...51,470,784 		JBrowse link
3-hydroxy-3-methylglutaryl-CoA lyase 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:00138 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00138 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00138 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00138 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00138 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00138 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00138 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00138 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00138 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00138 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00138 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00138 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00138 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00138 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00138 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00138 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00138 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00138 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00138 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00138 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00138 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00138 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00138 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00138 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00138 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00138 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00138 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00138 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00138 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00138 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		JBrowse link
3-hydroxyisobutyric aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00521 SMP:00522 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00521 SMP:00522 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00521 SMP:00522 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00521 SMP:00522 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00521 SMP:00522 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00521 SMP:00522 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00521 SMP:00522 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		JBrowse link
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 chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00237 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00237 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00237 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00237 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00237 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00237 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00237 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00237 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00237 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00237 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00237 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00237 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00237 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00237 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00237 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00237 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00237 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00237 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00237 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00237 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00237 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00237 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00237 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00237 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00237 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00237 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00237 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00237 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00237 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		JBrowse link
AGAT 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:00362 SMP:00507 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00362 SMP:00507 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Dao D-amino-acid oxidase ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:42,592,342...42,613,046
Ensembl chr12:42,592,343...42,612,741 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00362 SMP:00507 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775 		JBrowse link
G Prodh proline dehydrogenase ISO SMPDB SMP:00362 SMP:00507 NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305 		JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00362 SMP:00507 NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184 		JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00362 SMP:00507 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00362 SMP:00507 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
alkaptonuria 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:00169 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681 		JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO SMPDB SMP:00169 NCBI chr 4:77,812,260...77,831,846
Ensembl chr 4:77,812,260...77,831,840 		JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00169 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00169 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00169 NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836 		JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00169 NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208 		JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00169 NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00169 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00169 NCBI chr 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284 		JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00169 NCBI chr 6:10,845,235...10,864,863
Ensembl chr 6:10,845,771...10,864,877 		JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00169 NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323 		JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00169 NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766 		JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00169 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Mif macrophage migration inhibitory factor ISO SMPDB SMP:00169 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504 		JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO SMPDB SMP:00169 NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556 		JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00169 NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031 		JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00169 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		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 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00003 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00003 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00003 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00003 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00003 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00003 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00003 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00003 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00003 NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00003 NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00003 NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00003 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
aromatic L-amino acid decarboxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00170 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00170 NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208 		JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO SMPDB SMP:00170 NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556 		JBrowse link
G Th tyrosine hydroxylase ISO SMPDB SMP:00170 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
biotinidase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btd biotinidase ISO SMPDB SMP:00174 NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945 		JBrowse link
G Hlcs holocarboxylase synthetase ISO SMPDB SMP:00174 NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222 		JBrowse link
G Spcs1 signal peptidase complex subunit 1 ISO SMPDB SMP:00174 NCBI chr16:6,190,208...6,191,776
Ensembl chr16:6,190,262...6,192,000 		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 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00002 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00002 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
carnosinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00493 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00493 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00493 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO SMPDB SMP:00493 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO SMPDB SMP:00493 NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00493 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00493 NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00493 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333 		JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00493 NCBI chr20:13,217,252...13,243,590
Ensembl chr20:13,217,258...13,243,590 		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 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00001 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00001 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00001 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00001 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00001 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00001 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00001 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00001 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00001 NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00001 NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00001 NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00001 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
cystathioninuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO SMPDB SMP:00514 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00514 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
dimethylglycine dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate aminotransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00242 SMP:00484 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126 		JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00242 SMP:00484 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 2:24,912,600...24,987,533
Ensembl chr 2:24,912,578...24,987,528 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Gcat glycine C-acetyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 7:110,595,126...110,601,474
Ensembl chr 7:110,595,091...110,601,473 		JBrowse link
G Gldc glycine decarboxylase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097 		JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397 		JBrowse link
G Gnmt glycine N-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434 		JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00242 SMP:00484 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682 		JBrowse link
G Psph phosphoserine phosphatase ISO SMPDB SMP:00242 SMP:00484 NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074 		JBrowse link
G Sardh sarcosine dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874 		JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277 		JBrowse link
G Sds serine dehydratase ISO SMPDB SMP:00242 SMP:00484 NCBI chr12:36,083,226...36,090,540
Ensembl chr12:36,083,229...36,088,203 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 7:63,358,961...63,364,293
Ensembl chr 7:63,358,961...63,364,236 		JBrowse link
G Srr serine racemase ISO SMPDB SMP:00242 SMP:00484 NCBI chr10:59,769,563...59,786,688
Ensembl chr10:59,769,571...59,787,011 		JBrowse link
GABA aminotransferase 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:00351 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00351 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00351 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO SMPDB SMP:00351 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO SMPDB SMP:00351 NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00351 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00351 NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00351 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333 		JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00351 NCBI chr20:13,217,252...13,243,590
Ensembl chr20:13,217,258...13,243,590 		JBrowse link
glutaric aciduria type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadat aminoadipate aminotransferase ISO SMPDB SMP:00186 NCBI chr16:29,509,392...29,544,332
Ensembl chr16:29,509,394...29,544,332 		JBrowse link
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00186 NCBI chr 4:51,606,461...51,663,136
Ensembl chr 4:51,606,462...51,663,136 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00185 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00185 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00185 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00185 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00185 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO SMPDB SMP:00185 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00185 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541 		JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO SMPDB SMP:00186 NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00185 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00185 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095 		JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00186 NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00186 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00186 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00185 SMP:00186 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00186 NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00185 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00185 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869 		JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00186 NCBI chr10:62,769,874...62,783,484
Ensembl chr10:62,769,900...62,782,370 		JBrowse link
G Slc25a2 solute carrier family 25 member 2 ISO SMPDB SMP:00186 NCBI chr18:29,452,943...29,456,324
Ensembl chr18:29,453,582...29,460,383 		JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00186 NCBI chr16:51,417,478...51,470,784
Ensembl chr16:51,417,493...51,470,784 		JBrowse link
glutathione synthase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anpep alanyl aminopeptidase, membrane ISO SMPDB SMP:00143 SMP:00337 NCBI chr 1:133,767,332...133,810,137
Ensembl chr 1:133,767,332...133,785,789 		JBrowse link
G Casp7 caspase 7 ISO SMPDB SMP:00143 SMP:00337 NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00143 SMP:00337 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO SMPDB SMP:00143 SMP:00337 NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535 		JBrowse link
G Ggct gamma-glutamyl cyclotransferase ISO SMPDB SMP:00143 SMP:00337 NCBI chr 4:84,122,921...84,129,327
Ensembl chr 4:84,123,118...84,129,277 		JBrowse link
G Ggt6 gamma-glutamyl transferase 6 ISO SMPDB SMP:00143 SMP:00337 NCBI chr10:57,051,977...57,054,900
Ensembl chr10:57,051,825...57,067,260 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO SMPDB SMP:00143 SMP:00337 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00143 SMP:00337 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00143 SMP:00337 NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198 		JBrowse link
G Gsto2 glutathione S-transferase omega 2 ISO SMPDB SMP:00143 SMP:00337 NCBI chr 1:246,731,314...246,757,592
Ensembl chr 1:246,732,089...246,753,866 		JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO SMPDB SMP:00143 SMP:00337 NCBI chr 7:108,011,472...108,051,751
Ensembl chr 7:108,011,475...108,035,297 		JBrowse link
glutathionuria disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anpep alanyl aminopeptidase, membrane ISO SMPDB SMP:00501 NCBI chr 1:133,767,332...133,810,137
Ensembl chr 1:133,767,332...133,785,789 		JBrowse link
G Casp7 caspase 7 ISO SMPDB SMP:00501 NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00501 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO SMPDB SMP:00501 NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535 		JBrowse link
G Ggct gamma-glutamyl cyclotransferase ISO SMPDB SMP:00501 NCBI chr 4:84,122,921...84,129,327
Ensembl chr 4:84,123,118...84,129,277 		JBrowse link
G Ggt6 gamma-glutamyl transferase 6 ISO SMPDB SMP:00501 NCBI chr10:57,051,977...57,054,900
Ensembl chr10:57,051,825...57,067,260 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO SMPDB SMP:00501 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00501 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00501 NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198 		JBrowse link
G Gsto2 glutathione S-transferase omega 2 ISO SMPDB SMP:00501 NCBI chr 1:246,731,314...246,757,592
Ensembl chr 1:246,732,089...246,753,866 		JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO SMPDB SMP:00501 NCBI chr 7:108,011,472...108,051,751
Ensembl chr 7:108,011,475...108,035,297 		JBrowse link
glycine N-methyltransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO SMPDB SMP:00222 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00222 NCBI chr20:43,695,783...43,711,476
Ensembl chr20:43,697,237...43,711,476 		JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00222 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00222 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00222 NCBI chr16:5,194,269...5,225,541
Ensembl chr16:5,194,269...5,225,537 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00222 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00222 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00222 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00222 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00222 NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493 		JBrowse link
G Mat2b methionine adenosyltransferase 2 non-catalytic beta subunit ISO SMPDB SMP:00222 NCBI chr10:25,106,928...25,122,982
Ensembl chr10:25,106,930...25,122,777 		JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00222 NCBI chr17:81,974,378...82,000,044
Ensembl chr17:81,974,196...82,000,043 		JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00222 NCBI chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496 		JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00222 NCBI chr 5:103,874,460...103,920,684
Ensembl chr 5:103,873,020...103,939,406 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00222 NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00222 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00222 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00222 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00222 NCBI chr 5:159,025,875...159,029,076
Ensembl chr 5:159,025,873...159,029,405 		JBrowse link
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 chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681 		JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO SMPDB SMP:00190 NCBI chr 4:77,812,260...77,831,846
Ensembl chr 4:77,812,260...77,831,840 		JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00190 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00190 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00190 NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836 		JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00190 NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208 		JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00190 NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00190 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00190 NCBI chr 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284 		JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00190 NCBI chr 6:10,845,235...10,864,863
Ensembl chr 6:10,845,771...10,864,877 		JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00190 NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323 		JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00190 NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766 		JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00190 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Mif macrophage migration inhibitory factor ISO SMPDB SMP:00190 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504 		JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO SMPDB SMP:00190 NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556 		JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00190 NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031 		JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00190 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
histidinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00191 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00191 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681 		JBrowse link
G Amdhd1 amidohydrolase domain containing 1 ISO SMPDB SMP:00191 NCBI chr 7:28,043,923...28,059,156
Ensembl chr 7:28,043,716...28,059,156 		JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO SMPDB SMP:00191 NCBI chr 4:77,812,260...77,831,846
Ensembl chr 4:77,812,260...77,831,840 		JBrowse link
G Carnmt1 carnosine N-methyltransferase 1 ISO SMPDB SMP:00191 NCBI chr 1:216,093,720...216,123,360
Ensembl chr 1:216,093,695...216,121,006 		JBrowse link
G Carns1 carnosine synthase 1 ISO SMPDB SMP:00191 NCBI chr 1:201,459,061...201,470,019
Ensembl chr 1:201,459,076...201,469,845 		JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO SMPDB SMP:00191 NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765 		JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO SMPDB SMP:00191 NCBI chr18:78,039,924...78,057,030
Ensembl chr18:78,039,932...78,056,922 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO SMPDB SMP:00191 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
G Hal histidine ammonia lyase ISO SMPDB SMP:00191 NCBI chr 7:28,007,449...28,037,701
Ensembl chr 7:28,006,972...28,037,701 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO SMPDB SMP:00191 NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00191 NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747 		JBrowse link
G Hdc histidine decarboxylase ISO SMPDB SMP:00191 NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341 		JBrowse link
G Hnmt histamine N-methyltransferase ISO SMPDB SMP:00191 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00191 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Prmt3 protein arginine methyltransferase 3 ISO SMPDB SMP:00191 NCBI chr 1:99,492,712...99,581,774
Ensembl chr 1:99,492,724...99,579,435 		JBrowse link
G Uroc1 urocanate hydratase 1 ISO SMPDB SMP:00191 NCBI chr 4:122,844,933...122,876,584
Ensembl chr 4:122,844,926...122,876,591 		JBrowse link
holocarboxylase synthetase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btd biotinidase ISO SMPDB SMP:00564 NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945 		JBrowse link
G Hlcs holocarboxylase synthetase ISO SMPDB SMP:00564 NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222 		JBrowse link
G Spcs1 signal peptidase complex subunit 1 ISO SMPDB SMP:00564 NCBI chr16:6,190,208...6,191,776
Ensembl chr16:6,190,262...6,192,000 		JBrowse link
homocarnosinosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00385 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00385 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO SMPDB SMP:00385 NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00385 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00385 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00385 NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00385 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00385 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO SMPDB SMP:00385 NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535 		JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00385 NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471 		JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00385 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00385 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Glul glutamate-ammonia ligase ISO SMPDB SMP:00385 NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108 		JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00385 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875 		JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00385 NCBI chr15:18,596,180...18,608,854
Ensembl chr15:18,596,442...18,608,739 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00385 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00385 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00385 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00385 NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198 		JBrowse link
G Nadsyn1 NAD synthetase 1 ISO SMPDB SMP:00385 NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869 		JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00385 NCBI chr 4:116,281,179...116,293,870
Ensembl chr 4:116,281,328...116,313,137 		JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00385 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00385 NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739 		JBrowse link
homocystinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO SMPDB SMP:00177 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00177 NCBI chr20:43,695,783...43,711,476
Ensembl chr20:43,697,237...43,711,476 		JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00177 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00177 SMP:00515 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00177 NCBI chr16:5,194,269...5,225,541
Ensembl chr16:5,194,269...5,225,537 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00177 SMP:00515 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00177 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00177 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00177 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00177 NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493 		JBrowse link
G Mat2b methionine adenosyltransferase 2 non-catalytic beta subunit ISO SMPDB SMP:00177 NCBI chr10:25,106,928...25,122,982
Ensembl chr10:25,106,930...25,122,777 		JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00177 NCBI chr17:81,974,378...82,000,044
Ensembl chr17:81,974,196...82,000,043 		JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00177 NCBI chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496 		JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00177 NCBI chr 5:103,874,460...103,920,684
Ensembl chr 5:103,873,020...103,939,406 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00177 NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00177 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00177 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00177 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00177 NCBI chr 5:159,025,875...159,029,076
Ensembl chr 5:159,025,873...159,029,405 		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 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00357 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00357 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00357 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00357 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00357 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00357 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00357 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00357 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00357 NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00357 NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00357 NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00357 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
hyperlysinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadat aminoadipate aminotransferase ISO SMPDB SMP:00527 NCBI chr16:29,509,392...29,544,332
Ensembl chr16:29,509,394...29,544,332 		JBrowse link
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00527 NCBI chr 4:51,606,461...51,663,136
Ensembl chr 4:51,606,462...51,663,136 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00527 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO SMPDB SMP:00527 NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193 		JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00527 NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00527 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00527 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00527 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353 		JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00527 NCBI chr10:62,769,874...62,783,484
Ensembl chr10:62,769,900...62,782,370 		JBrowse link
G Slc25a2 solute carrier family 25 member 2 ISO SMPDB SMP:00527 NCBI chr18:29,452,943...29,456,324
Ensembl chr18:29,453,582...29,460,383 		JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00527 NCBI chr16:51,417,478...51,470,784
Ensembl chr16:51,417,493...51,470,784 		JBrowse link
hypermethioninemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO SMPDB SMP:00341 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00341 NCBI chr20:43,695,783...43,711,476
Ensembl chr20:43,697,237...43,711,476 		JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00341 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00341 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00341 NCBI chr16:5,194,269...5,225,541
Ensembl chr16:5,194,269...5,225,537 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00341 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00341 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00341 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00341 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00341 NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493 		JBrowse link
G Mat2b methionine adenosyltransferase 2 non-catalytic beta subunit ISO SMPDB SMP:00341 NCBI chr10:25,106,928...25,122,982
Ensembl chr10:25,106,930...25,122,777 		JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00341 NCBI chr17:81,974,378...82,000,044
Ensembl chr17:81,974,196...82,000,043 		JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00341 NCBI chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496 		JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00341 NCBI chr 5:103,874,460...103,920,684
Ensembl chr 5:103,873,020...103,939,406 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00341 NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00341 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00341 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00341 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00341 NCBI chr 5:159,025,875...159,029,076
Ensembl chr 5:159,025,873...159,029,405 		JBrowse link
hyperprolinemia type I 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:00361 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00361 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00361 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00361 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00361 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00361 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Dao D-amino-acid oxidase ISO SMPDB SMP:00361 NCBI chr12:42,592,342...42,613,046
Ensembl chr12:42,592,343...42,612,741 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00361 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00361 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00361 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00361 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00361 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00361 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00361 NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00361 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00361 NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775 		JBrowse link
G Prodh proline dehydrogenase ISO SMPDB SMP:00361 NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305 		JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00361 NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184 		JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00361 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00361 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
hyperprolinemia type II 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:00360 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00360 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00360 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00360 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00360 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00360 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Dao D-amino-acid oxidase ISO SMPDB SMP:00360 NCBI chr12:42,592,342...42,613,046
Ensembl chr12:42,592,343...42,612,741 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00360 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00360 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00360 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00360 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00360 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00360 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00360 NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00360 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00360 NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775 		JBrowse link
G Prodh proline dehydrogenase ISO SMPDB SMP:00360 NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305 		JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00360 NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184 		JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00360 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00360 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
isobutyryl-CoA dehydrogenase 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:00523 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00523 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00523 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00523 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00523 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00523 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00523 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00523 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00523 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00523 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00523 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00523 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00523 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00523 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00523 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00523 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00523 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00523 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00523 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00523 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00523 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00523 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00523 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00523 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00523 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00523 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00523 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00523 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00523 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00523 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		JBrowse link
isovaleric acidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00238 SMP:00524 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00238 SMP:00524 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00238 SMP:00524 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00238 SMP:00524 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00238 SMP:00524 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00238 SMP:00524 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00238 SMP:00524 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		JBrowse link
lysinuric protein intolerance pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690 		JBrowse link
G Aqp2 aquaporin 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO SMPDB SMP:00197 SMP:00585 NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720 		JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837 		JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
G Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687 		JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr13:76,786,580...76,807,096
Ensembl chr13:76,786,578...76,807,459 		JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933 		JBrowse link
G Atp1b3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 8:96,910,265...96,941,592
Ensembl chr 8:96,910,309...96,941,598 		JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020 		JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO SMPDB SMP:00197 SMP:00585 NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148 		JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00197 SMP:00585 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091 		JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258 		JBrowse link
G Slc14a2 solute carrier family 14 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr18:71,612,460...72,039,462
Ensembl chr18:71,612,460...71,792,968 		JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402 		JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268 		JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:205,522,579...205,531,179
Ensembl chr 1:205,522,729...205,531,173 		JBrowse link
G Slc38a4 solute carrier family 38, member 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 7:128,142,866...128,203,000
Ensembl chr 7:128,144,807...128,202,995 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907 		JBrowse link
G Slc3a2 solute carrier family 3 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:205,604,468...205,618,931
Ensembl chr 1:205,604,468...205,618,931 		JBrowse link
G Slc6a20a solute carrier family 6 member 20a ISO SMPDB SMP:00197 SMP:00585 NCBI chr 8:123,282,325...123,322,609
Ensembl chr 8:123,281,472...123,322,573 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO SMPDB SMP:00197 SMP:00585 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823 		JBrowse link
G Slc7a6 solute carrier family 7 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr19:34,073,472...34,100,268
Ensembl chr19:34,074,286...34,100,268 		JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO SMPDB SMP:00197 SMP:00585 NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648 		JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO SMPDB SMP:00197 SMP:00585 NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717 		JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:88,109,517...88,132,653
Ensembl chr 1:88,110,644...88,132,641 		JBrowse link
maple syrup urine disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00199 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00199 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00199 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00199 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00199 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00199 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00199 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00199 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00199 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00199 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00199 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00199 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00199 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00199 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00199 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00199 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00199 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00199 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00199 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00199 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00199 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00199 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00199 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00199 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00199 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00199 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00199 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00199 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00199 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00199 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		JBrowse link
mercaptolactate-cysteine disulfiduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cars1 cysteinyl-tRNA synthetase 1 ISO SMPDB SMP:00499 NCBI chr 1:198,753,689...198,796,016
Ensembl chr 1:198,753,691...198,795,941 		JBrowse link
G Cdo1 cysteine dioxygenase type 1 ISO SMPDB SMP:00499 NCBI chr18:39,432,473...39,447,253
Ensembl chr18:39,432,474...39,447,296 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00499 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO SMPDB SMP:00499 NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00499 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO SMPDB SMP:00499 NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00499 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Mpst mercaptopyruvate sulfurtransferase ISO SMPDB SMP:00499 NCBI chr 7:109,955,581...109,963,155
Ensembl chr 7:109,955,675...109,963,141 		JBrowse link
methylenetetrahydrofolate reductase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO SMPDB SMP:00340 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00340 NCBI chr20:43,695,783...43,711,476
Ensembl chr20:43,697,237...43,711,476 		JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00340 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00340 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00340 NCBI chr16:5,194,269...5,225,541
Ensembl chr16:5,194,269...5,225,537 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00340 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00340 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00340 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00340 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00340 NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493 		JBrowse link
G Mat2b methionine adenosyltransferase 2 non-catalytic beta subunit ISO SMPDB SMP:00340 NCBI chr10:25,106,928...25,122,982
Ensembl chr10:25,106,930...25,122,777 		JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00340 NCBI chr17:81,974,378...82,000,044
Ensembl chr17:81,974,196...82,000,043 		JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00340 NCBI chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496 		JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00340 NCBI chr 5:103,874,460...103,920,684
Ensembl chr 5:103,873,020...103,939,406 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00340 NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00340 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00340 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00340 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00340 NCBI chr 5:159,025,875...159,029,076
Ensembl chr 5:159,025,873...159,029,405 		JBrowse link
methylmalonate semialdehyde dehydrogenase 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:00384 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00384 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00384 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00384 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00384 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00384 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00384 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00384 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00384 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00384 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00384 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00384 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00384 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00384 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00384 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00384 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00384 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00384 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00384 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00384 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00384 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00384 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00384 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00384 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00384 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00384 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00384 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00384 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00384 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00384 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		JBrowse link
methylmalonic acidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00200 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00200 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00200 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00200 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00200 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00200 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00200 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00200 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00200 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00200 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00200 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00200 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00200 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00200 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00200 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00200 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00200 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00200 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00200 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00200 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00200 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00200 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00200 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00200 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00200 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00200 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00200 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00200 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00200 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00200 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		JBrowse link
methylmalonic aciduria, cobalamin-related pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00201 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO SMPDB SMP:00201 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00201 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00201 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acss1 acyl-CoA synthetase short-chain family member 1 ISO SMPDB SMP:00201 NCBI chr 3:139,450,383...139,500,325
Ensembl chr 3:139,450,383...139,500,325 		JBrowse link
G Acss3 acyl-CoA synthetase short-chain family member 3 ISO SMPDB SMP:00201 NCBI chr 7:42,241,261...42,450,209
Ensembl chr 7:42,242,652...42,450,230 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00201 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00201 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00201 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00201 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00201 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00201 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00201 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Ldhal6b lactate dehydrogenase A-like 6B ISO SMPDB SMP:00201 NCBI chr 1:45,997,845...45,999,268
Ensembl chr 1:45,991,991...45,999,272 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00201 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mlycd malonyl-CoA decarboxylase ISO SMPDB SMP:00201 NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00201 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00201 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00201 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		JBrowse link
nonketotic hyperglycinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate aminotransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00223 SMP:00485 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126 		JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00223 SMP:00485 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:24,912,600...24,987,533
Ensembl chr 2:24,912,578...24,987,528 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Gcat glycine C-acetyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 7:110,595,126...110,601,474
Ensembl chr 7:110,595,091...110,601,473 		JBrowse link
G Gldc glycine decarboxylase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097 		JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397 		JBrowse link
G Gnmt glycine N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434 		JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00223 SMP:00485 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682 		JBrowse link
G Psph phosphoserine phosphatase ISO SMPDB SMP:00223 SMP:00485 NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074 		JBrowse link
G Sardh sarcosine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874 		JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277 		JBrowse link
G Sds serine dehydratase ISO SMPDB SMP:00223 SMP:00485 NCBI chr12:36,083,226...36,090,540
Ensembl chr12:36,083,229...36,088,203 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 7:63,358,961...63,364,293
Ensembl chr 7:63,358,961...63,364,236 		JBrowse link
G Srr serine racemase ISO SMPDB SMP:00223 SMP:00485 NCBI chr10:59,769,563...59,786,688
Ensembl chr10:59,769,571...59,787,011 		JBrowse link
ornithine carbamoyltransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00205 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00205 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00205 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00205 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00205 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00205 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00205 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00205 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00205 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00205 NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00205 NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00205 NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00205 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		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 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00506 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00506 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00506 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00506 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00506 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Dao D-amino-acid oxidase ISO SMPDB SMP:00506 NCBI chr12:42,592,342...42,613,046
Ensembl chr12:42,592,343...42,612,741 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00506 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00506 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00506 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00506 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00506 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00506 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00506 NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00506 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00506 NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775 		JBrowse link
G Prodh proline dehydrogenase ISO SMPDB SMP:00506 NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305 		JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00506 NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184 		JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00506 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00506 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
phenylketonuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00206 NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505 		JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00206 NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980 		JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00206 NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00206 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00206 NCBI chr 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284 		JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00206 NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323 		JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00206 NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766 		JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00206 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562 		JBrowse link
G Pah phenylalanine hydroxylase ISO SMPDB SMP:00206 NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00206 NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031 		JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00206 NCBI chr 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833 		JBrowse link
prolidase 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:00207 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00207 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00207 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00207 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00207 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00207 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Dao D-amino-acid oxidase ISO SMPDB SMP:00207 NCBI chr12:42,592,342...42,613,046
Ensembl chr12:42,592,343...42,612,741 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00207 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00207 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00207 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00207 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00207 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00207 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00207 NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00207 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00207 NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775 		JBrowse link
G Prodh proline dehydrogenase ISO SMPDB SMP:00207 NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305 		JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00207 NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184 		JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00207 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00207 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
propionic acidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00236 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00236 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00236 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00236 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00236 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00236 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00236 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00236 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00236 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00236 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00236 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00236 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00236 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00236 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00236 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00236 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00236 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00236 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00236 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00236 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00236 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00236 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00236 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00236 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00236 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00236 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00236 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00236 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00236 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00236 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		JBrowse link
saccharopinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadat aminoadipate aminotransferase ISO SMPDB SMP:00239 SMP:00528 NCBI chr16:29,509,392...29,544,332
Ensembl chr16:29,509,394...29,544,332 		JBrowse link
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00239 SMP:00528 NCBI chr 4:51,606,461...51,663,136
Ensembl chr 4:51,606,462...51,663,136 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO SMPDB SMP:00239 SMP:00528 NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193 		JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00239 SMP:00528 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353 		JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00239 SMP:00528 NCBI chr10:62,769,874...62,783,484
Ensembl chr10:62,769,900...62,782,370 		JBrowse link
G Slc25a2 solute carrier family 25 member 2 ISO SMPDB SMP:00239 SMP:00528 NCBI chr18:29,452,943...29,456,324
Ensembl chr18:29,453,582...29,460,383 		JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00239 SMP:00528 NCBI chr16:51,417,478...51,470,784
Ensembl chr16:51,417,493...51,470,784 		JBrowse link
sarcosinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate aminotransferase ISO SMPDB SMP:00244 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00244 NCBI chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00244 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00244 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126 		JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00244 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00244 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00244 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00244 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00244 NCBI chr 2:24,912,600...24,987,533
Ensembl chr 2:24,912,578...24,987,528 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00244 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00244 NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00244 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Gcat glycine C-acetyltransferase ISO SMPDB SMP:00244 NCBI chr 7:110,595,126...110,601,474
Ensembl chr 7:110,595,091...110,601,473 		JBrowse link
G Gldc glycine decarboxylase ISO SMPDB SMP:00244 NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097 		JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00244 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397 		JBrowse link
G Gnmt glycine N-methyltransferase ISO SMPDB SMP:00244 NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434 		JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00244 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO SMPDB SMP:00244 NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00244 NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682 		JBrowse link
G Psph phosphoserine phosphatase ISO SMPDB SMP:00244 NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074 		JBrowse link
G Sardh sarcosine dehydrogenase ISO SMPDB SMP:00244 NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874 		JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00244 NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277 		JBrowse link
G Sds serine dehydratase ISO SMPDB SMP:00244 NCBI chr12:36,083,226...36,090,540
Ensembl chr12:36,083,229...36,088,203 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00244 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00244 NCBI chr 7:63,358,961...63,364,293
Ensembl chr 7:63,358,961...63,364,236 		JBrowse link
G Srr serine racemase ISO SMPDB SMP:00244 NCBI chr10:59,769,563...59,786,688
Ensembl chr10:59,769,571...59,787,011 		JBrowse link
succinic semialdehyde dehydrogenase 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:00243 SMP:00567 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00243 SMP:00567 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00243 SMP:00567 NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00243 SMP:00567 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO SMPDB SMP:00243 SMP:00567 NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535 		JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471 		JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00243 SMP:00567 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Glul glutamate-ammonia ligase ISO SMPDB SMP:00243 SMP:00567 NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108 		JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00243 SMP:00567 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875 		JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr15:18,596,180...18,608,854
Ensembl chr15:18,596,442...18,608,739 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00243 SMP:00567 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00243 SMP:00567 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00243 SMP:00567 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00243 SMP:00567 NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198 		JBrowse link
G Nadsyn1 NAD synthetase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869 		JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00243 SMP:00567 NCBI chr 4:116,281,179...116,293,870
Ensembl chr 4:116,281,328...116,313,137 		JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00243 SMP:00567 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739 		JBrowse link
sulfite oxidase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO SMPDB SMP:00532 NCBI chr13:96,865,634...96,893,506
Ensembl chr13:96,868,580...96,893,503 		JBrowse link
G Chst11 carbohydrate sulfotransferase 11 ISO SMPDB SMP:00532 NCBI chr 7:20,524,535...20,743,008
Ensembl chr 7:20,528,100...20,743,111 		JBrowse link
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO SMPDB SMP:00532 NCBI chr 1:230,454,314...230,539,332
Ensembl chr 1:230,454,426...230,539,331 		JBrowse link
G Sult1a1 sulfotransferase family 1A member 1 ISO SMPDB SMP:00532 NCBI chr 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562 		JBrowse link
G Sult1e1 sulfotransferase family 1E member 1 ISO SMPDB SMP:00532 NCBI chr14:20,422,324...20,439,562
Ensembl chr14:20,422,324...20,439,275 		JBrowse link
G Sult2b1 sulfotransferase family 2B member 1 ISO SMPDB SMP:00532 NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295 		JBrowse link
G Suox sulfite oxidase ISO SMPDB SMP:00532 NCBI chr 7:1,103,149...1,107,156
Ensembl chr 7:1,103,151...1,107,038 		JBrowse link
tyrosinemia type I 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:00218 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681 		JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO SMPDB SMP:00218 NCBI chr 4:77,812,260...77,831,846
Ensembl chr 4:77,812,260...77,831,840 		JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00218 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00218 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00218 NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836 		JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00218 NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208 		JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00218 NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00218 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00218 NCBI chr 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284 		JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00218 NCBI chr 6:10,845,235...10,864,863
Ensembl chr 6:10,845,771...10,864,877 		JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00218 NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323 		JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00218 NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766 		JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00218 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Mif macrophage migration inhibitory factor ISO SMPDB SMP:00218 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504 		JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO SMPDB SMP:00218 NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556 		JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00218 NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031 		JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00218 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
tyrosinemia type II pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00369 NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505 		JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00369 NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980 		JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00369 NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00369 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00369 NCBI chr 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284 		JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00369 NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323 		JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00369 NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766 		JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00369 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562 		JBrowse link
G Pah phenylalanine hydroxylase ISO SMPDB SMP:00369 NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00369 NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031 		JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00369 NCBI chr 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833 		JBrowse link
tyrosinemia type III pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO SMPDB SMP:00434 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Abcc1 ATP binding cassette subfamily C member 1 ISO SMPDB SMP:00434 NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114 		JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO SMPDB SMP:00434 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238 		JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISO SMPDB SMP:00434 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00370 NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505 		JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00370 NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980 		JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00370 NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00370 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00370 NCBI chr 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284 		JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00370 NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323 		JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00370 NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766 		JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00370 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562 		JBrowse link
G Pah phenylalanine hydroxylase ISO SMPDB SMP:00370 NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Slco1b2 solute carrier organic anion transporter family member 1B2 ISO SMPDB SMP:00434 NCBI chr 4:174,551,463...174,619,988
Ensembl chr 4:174,551,480...174,619,981 		JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00370 NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031 		JBrowse link
G Tuba1b tubulin, alpha 1B ISO SMPDB SMP:00434 NCBI chr 7:130,090,663...130,093,644
Ensembl chr 7:130,081,032...130,196,186 		JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO SMPDB SMP:00434 NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063 		JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00370 NCBI chr 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6092
    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
              2-aminoadipic 2-oxoadipic aciduria pathway 13
              3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway 30
              3-hydroxyisobutyric aciduria pathway 30
              AGAT deficiency pathway 20
              GABA aminotransferase deficiency pathway 9
              alkaptonuria pathway 17
              aromatic L-amino acid decarboxylase deficiency pathway 4
              carnosinemia pathway 9
              dimethylglycine dehydrogenase deficiency pathway 26
              glutaric aciduria type I pathway 24
              glutathione synthase deficiency pathway 11
              glutathionuria disease pathway 11
              glycine N-methyltransferase deficiency pathway 19
              hawkinsinuria pathway 17
              histidinemia pathway 17
              homocarnosinosis pathway 23
              hyperhomocysteinemia pathway + 19
              hyperlysinemia pathway + 13
              hypermethioninemia pathway 19
              hypermethioninemia pathway 19
              hyperprolinemia type I pathway 20
              hyperprolinemia type II pathway 20
              inborn error of urea cycle pathway + 56
              isobutyryl-CoA dehydrogenase deficiency pathway 30
              isovaleric acidemia pathway 30
              lysinuric protein intolerance pathway 33
              maple syrup urine disease pathway 30
              mercaptolactate-cysteine disulfiduria pathway 8
              methylmalonate semialdehyde dehydrogenase deficiency pathway 30
              methylmalonic acidemia pathway + 35
              multiple carboxylase deficiency pathway + 3
              nonketotic hyperglycinemia pathway 26
              ornithine carbamoyltransferase deficiency pathway 13
              phenylketonuria pathway 11
              prolidase deficiency pathway 20
              propionic acidemia pathway 30
              sarcosinemia pathway 26
              succinic semialdehyde dehydrogenase deficiency pathway 23
              sulfite oxidase deficiency pathway 7
              tyrosinemia pathway + 29
paths to the root