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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


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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 chr25:20,920,118...20,944,251
Ensembl chr25:20,920,139...20,945,387
JBrowse link
G AASS aminoadipate-semialdehyde synthase ISO SMPDB SMP:00719 NCBI chr14:59,950,123...59,993,457
Ensembl chr14:59,951,216...60,000,212
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00719 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00719 NCBI chr11:15,828,581...15,878,556
Ensembl chr11:15,815,936...15,878,516
JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00719 NCBI chr 2:24,298,323...24,349,848
Ensembl chr 2:24,299,789...24,349,899
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00719 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00719 NCBI chr 8:48,003,730...48,025,001
Ensembl chr 8:48,002,211...48,024,999
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00719 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr32:28,460,445...28,506,141
Ensembl chr32:28,460,193...28,531,280
JBrowse link
G PIPOX pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00719 NCBI chr 9:43,200,343...43,212,288
Ensembl chr 9:43,200,371...43,212,288
JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO SMPDB SMP:00719 NCBI chr 2:36,286,080...36,287,619
Ensembl chr 2:36,286,584...36,287,489
JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO SMPDB SMP:00719 NCBI chr16:40,855,270...40,879,956
Ensembl chr16:40,745,458...40,875,106
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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00138 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00138 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00138 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00138 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00138 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00138 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00138 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00138 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283
JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00138 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00138 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00138 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00138 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00138 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00138 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00138 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00138 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00138 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00138 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00138 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00138 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00138 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00138 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00138 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00138 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00138 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00138 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00138 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00138 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00138 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366
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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00521 SMP:00522 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283
JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00521 SMP:00522 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00521 SMP:00522 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00521 SMP:00522 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00521 SMP:00522 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00521 SMP:00522 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00521 SMP:00522 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366
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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00237 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00237 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00237 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00237 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00237 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00237 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00237 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00237 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283
JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00237 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00237 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00237 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00237 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00237 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00237 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00237 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00237 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00237 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00237 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00237 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00237 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00237 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00237 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00237 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00237 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00237 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00237 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00237 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00237 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00237 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366
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 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540
JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697
JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00362 SMP:00507 NCBI chr26:18,032,663...18,057,277
Ensembl chr26:18,033,392...18,057,238
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr38:14,754,628...14,823,626
Ensembl chr38:14,754,632...14,823,621
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr20:57,440,698...57,442,588 JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579
JBrowse link
G LOC100855552 creatine kinase B-type ISO SMPDB SMP:00362 SMP:00507 NCBI chr 8:71,284,104...71,287,379 JBrowse link
G LOC477562 proline dehydrogenase 1, mitochondrial ISO SMPDB SMP:00362 SMP:00507 NCBI chr26:29,039,007...29,059,722 JBrowse link
G NOS1 nitric oxide synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332
JBrowse link
G OAT ornithine aminotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr28:33,763,661...33,788,817
Ensembl chr28:33,758,473...33,788,759
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00362 SMP:00507 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595
JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00362 SMP:00507 NCBI chr21:23,991,474...24,033,086
Ensembl chr21:23,991,469...24,032,642
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 7:38,902,705...38,905,924 JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:46,993,787...47,047,295
Ensembl chr12:46,992,959...47,047,240
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00362 SMP:00507 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054
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 chr 5:40,466,237...40,474,272
Ensembl chr 5:40,466,237...40,474,457
JBrowse link
G AOC1 amine oxidase copper containing 1 ISO SMPDB SMP:00169 NCBI chr16:14,955,528...14,963,283
Ensembl chr16:14,958,658...15,036,651
JBrowse link
G COMT catechol-O-methyltransferase ISO SMPDB SMP:00169 NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008
JBrowse link
G DBH dopamine beta-hydroxylase ISO SMPDB SMP:00169 NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130
JBrowse link
G DCT dopachrome tautomerase ISO SMPDB SMP:00169 NCBI chr22:45,271,709...45,305,272
Ensembl chr22:45,271,709...45,305,346
JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00169 NCBI chr18:1,802,239...1,876,714
Ensembl chr18:1,803,273...1,867,616
JBrowse link
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00169 NCBI chr 3:57,300,422...57,326,546
Ensembl chr 3:57,300,441...57,326,486
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00169 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579
JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00169 NCBI chr 8:50,133,496...50,143,487
Ensembl chr 8:50,133,714...50,143,439
JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00169 NCBI chr10:45,368,157...45,379,521
Ensembl chr10:45,368,178...45,379,160
JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00169 NCBI chr33:24,066,099...24,107,827
Ensembl chr33:24,066,306...24,151,354
JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00169 NCBI chr26:7,430,891...7,440,643
Ensembl chr26:7,430,933...7,440,611
JBrowse link
G LOC100856533 alcohol dehydrogenase E chain ISO SMPDB SMP:00169 NCBI chr32:21,422,428...21,437,058 JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00169 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757
JBrowse link
G MIF macrophage migration inhibitory factor ISO SMPDB SMP:00169
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00169 NCBI chr 9:22,808,505...22,810,587
Ensembl chr 9:22,808,601...22,810,551
JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00169 NCBI chr 5:77,365,589...77,378,474
Ensembl chr 5:77,366,138...77,378,419
JBrowse link
G TYR tyrosinase ISO SMPDB SMP:00169 NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191
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 chr12:242,717...255,736
Ensembl chr12:242,714...255,305
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00003 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00003 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00003 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00003 NCBI chr10:722,105...737,857
Ensembl chr10:722,202...737,753
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00003 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00003 NCBI chr 2:57,968,833...57,994,219
Ensembl chr 2:57,968,833...57,994,218
JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00003 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00003 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00003 NCBI chr10:64,482,840...64,508,288
Ensembl chr10:64,483,060...64,505,747
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00003 NCBI chr 1:109,150,205...109,161,375
Ensembl chr 1:109,150,205...109,161,141
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00003 NCBI chr36:16,185,011...16,391,080
Ensembl chr36:16,185,649...16,483,016
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00003 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054
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 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130
JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00170 NCBI chr18:1,802,239...1,876,714
Ensembl chr18:1,803,273...1,867,616
JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00170 NCBI chr 9:22,808,505...22,810,587
Ensembl chr 9:22,808,601...22,810,551
JBrowse link
G TH tyrosine hydroxylase ISO SMPDB SMP:00170 NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602
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 chr23:27,037,640...27,069,544
Ensembl chr23:27,037,921...27,069,456
JBrowse link
G HLCS holocarboxylase synthetase ISO SMPDB SMP:00174 NCBI chr31:31,934,796...32,159,866
Ensembl chr31:31,937,087...32,150,861
JBrowse link
G SPCS1 signal peptidase complex subunit 1 ISO SMPDB SMP:00174 NCBI chr20:37,091,420...37,092,972
Ensembl chr20:37,091,792...37,263,577
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 chr12:242,717...255,736
Ensembl chr12:242,714...255,305
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chr10:722,105...737,857
Ensembl chr10:722,202...737,753
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chr 2:57,968,833...57,994,219
Ensembl chr 2:57,968,833...57,994,218
JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00002 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00002 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chr10:64,482,840...64,508,288
Ensembl chr10:64,483,060...64,505,747
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chr 1:109,150,205...109,161,375
Ensembl chr 1:109,150,205...109,161,141
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chr36:16,185,011...16,391,080
Ensembl chr36:16,185,649...16,483,016
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054
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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00493 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00493 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283
JBrowse link
G AOC3 amine oxidase copper containing 3 ISO SMPDB SMP:00493 NCBI chr 9:20,158,581...20,179,773
Ensembl chr 9:20,157,410...20,241,376
JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO SMPDB SMP:00493 NCBI chr 1:4,875,790...4,912,148
Ensembl chr 1:4,876,794...4,911,976
JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO SMPDB SMP:00493 NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923
JBrowse link
G DPYS dihydropyrimidinase ISO SMPDB SMP:00493 NCBI chr13:5,583,795...5,659,355
Ensembl chr13:5,583,801...5,659,463
JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00493 NCBI chr36:15,351,289...15,391,701
Ensembl chr36:15,349,683...15,391,824
JBrowse link
G UPB1 beta-ureidopropionase 1 ISO SMPDB SMP:00493 NCBI chr26:28,194,968...28,225,977
Ensembl chr26:28,195,081...28,225,567
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 chr12:242,717...255,736
Ensembl chr12:242,714...255,305
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00001 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00001 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00001 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00001 NCBI chr10:722,105...737,857
Ensembl chr10:722,202...737,753
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00001 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00001 NCBI chr 2:57,968,833...57,994,219
Ensembl chr 2:57,968,833...57,994,218
JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00001 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00001 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00001 NCBI chr10:64,482,840...64,508,288
Ensembl chr10:64,483,060...64,505,747
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00001 NCBI chr 1:109,150,205...109,161,375
Ensembl chr 1:109,150,205...109,161,141
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00001 NCBI chr36:16,185,011...16,391,080
Ensembl chr36:16,185,649...16,483,016
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00001 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054
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 chr31:37,230,900...37,247,170 JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00514 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451
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 and serine--pyruvate aminotransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr25:50,968,291...50,976,089 JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr20:37,552,813...37,566,417
Ensembl chr20:37,552,814...37,566,638
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00242 SMP:00484 NCBI chr26:9,319,109...9,361,021 JBrowse link
G AMT aminomethyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr20:39,815,449...39,820,907
Ensembl chr20:39,815,814...39,820,506
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 3:27,732,381...27,752,168
Ensembl chr 3:27,734,108...27,752,046
JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00242 SMP:00484 NCBI chr31:37,230,900...37,247,170 JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
JBrowse link
G DMGDH dimethylglycine dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 3:27,789,089...27,857,348
Ensembl chr 3:27,790,324...27,856,601
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr20:57,440,698...57,442,588 JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr14:43,308,274...43,351,999
Ensembl chr14:43,308,152...43,396,487
JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214
JBrowse link
G GCAT glycine C-acetyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr10:26,821,121...26,827,496
Ensembl chr10:26,821,027...26,827,707
JBrowse link
G GLDC glycine decarboxylase ISO SMPDB SMP:00242 SMP:00484 NCBI chr11:27,491,639...27,584,450
Ensembl chr11:27,414,834...27,584,450
JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00242 SMP:00484 NCBI chr20:37,462,651...37,495,581
Ensembl chr20:37,462,659...37,465,807
JBrowse link
G GNMT glycine N-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr12:11,500,363...11,503,075
Ensembl chr12:11,500,392...11,503,481
JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00242 SMP:00484 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757
JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr17:56,806,912...56,833,765 JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 1:80,376,469...80,408,177
Ensembl chr 1:80,377,115...80,408,162
JBrowse link
G PSPH phosphoserine phosphatase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 6:493,152...546,176
Ensembl chr 6:493,176...512,089
JBrowse link
G SARDH sarcosine dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 9:50,030,397...50,093,556
Ensembl chr 9:50,030,707...50,091,553
JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 6:42,584,792...42,605,201
Ensembl chr 6:42,584,798...42,605,136
JBrowse link
G SDS serine dehydratase ISO SMPDB SMP:00242 SMP:00484 NCBI chr26:10,725,123...10,728,087 JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 5:41,221,531...41,248,653
Ensembl chr 5:41,221,562...41,253,166
JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00242 SMP:00484 NCBI chr10:1,357,347...1,362,511
Ensembl chr10:1,356,706...1,362,305
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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00351 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00351 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283
JBrowse link
G AOC3 amine oxidase copper containing 3 ISO SMPDB SMP:00351 NCBI chr 9:20,158,581...20,179,773
Ensembl chr 9:20,157,410...20,241,376
JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO SMPDB SMP:00351 NCBI chr 1:4,875,790...4,912,148
Ensembl chr 1:4,876,794...4,911,976
JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO SMPDB SMP:00351 NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923
JBrowse link
G DPYS dihydropyrimidinase ISO SMPDB SMP:00351 NCBI chr13:5,583,795...5,659,355
Ensembl chr13:5,583,801...5,659,463
JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00351 NCBI chr36:15,351,289...15,391,701
Ensembl chr36:15,349,683...15,391,824
JBrowse link
G UPB1 beta-ureidopropionase 1 ISO SMPDB SMP:00351 NCBI chr26:28,194,968...28,225,977
Ensembl chr26:28,195,081...28,225,567
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 chr25:20,920,118...20,944,251
Ensembl chr25:20,920,139...20,945,387
JBrowse link
G AASS aminoadipate-semialdehyde synthase ISO SMPDB SMP:00186 NCBI chr14:59,950,123...59,993,457
Ensembl chr14:59,951,216...60,000,212
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00185 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00185 NCBI chr37:18,028,244...18,073,975
Ensembl chr37:18,017,087...18,073,862
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00185 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00185 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00185 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00185 NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00185 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00186 NCBI chr11:15,828,581...15,878,556
Ensembl chr11:15,815,936...15,878,516
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00185 NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00185 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809
JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00186 NCBI chr 2:24,298,323...24,349,848
Ensembl chr 2:24,299,789...24,349,899
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00186 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00186 NCBI chr 8:48,003,730...48,025,001
Ensembl chr 8:48,002,211...48,024,999
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00185 SMP:00186 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00186 NCBI chr32:28,460,445...28,506,141
Ensembl chr32:28,460,193...28,531,280
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00185 NCBI chr17:20,307,207...20,355,659
Ensembl chr17:20,307,226...20,355,508
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00185 NCBI chr17:20,355,778...20,399,869 JBrowse link
G PIPOX pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00186 NCBI chr 9:43,200,343...43,212,288
Ensembl chr 9:43,200,371...43,212,288
JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO SMPDB SMP:00186 NCBI chr 2:36,286,080...36,287,619
Ensembl chr 2:36,286,584...36,287,489
JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO SMPDB SMP:00186 NCBI chr16:40,855,270...40,879,956
Ensembl chr16:40,745,458...40,875,106
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 3:52,764,418...52,779,516
Ensembl chr 3:52,764,418...52,779,746
JBrowse link
G CASP7 caspase 7 ISO SMPDB SMP:00143 SMP:00337 NCBI chr28:24,599,866...24,630,018
Ensembl chr28:24,599,493...24,628,668
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00143 SMP:00337 NCBI chr12:20,999,815...21,047,779
Ensembl chr12:21,000,792...21,047,779
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00143 SMP:00337 NCBI chr 6:55,204,602...55,244,217 JBrowse link
G GGCT gamma-glutamylcyclotransferase ISO SMPDB SMP:00143 SMP:00337 NCBI chr14:43,244,220...43,252,930
Ensembl chr14:43,245,102...43,252,923
JBrowse link
G GGT6 gamma-glutamyltransferase 6 ISO SMPDB SMP:00143 SMP:00337 NCBI chr 5:30,540,461...30,543,878
Ensembl chr 5:30,540,450...30,543,773
JBrowse link
G GPX1 glutathione peroxidase 1 ISO SMPDB SMP:00143 SMP:00337 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
JBrowse link
G GSR glutathione-disulfide reductase ISO SMPDB SMP:00143 SMP:00337 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
JBrowse link
G GSS glutathione synthetase ISO SMPDB SMP:00143 SMP:00337 NCBI chr24:23,973,807...24,000,281
Ensembl chr24:23,901,045...23,997,286
JBrowse link
G GSTO2 glutathione S-transferase omega 2 ISO SMPDB SMP:00143 SMP:00337 NCBI chr28:16,580,250...16,604,977
Ensembl chr28:16,586,777...16,604,976
JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing ISO SMPDB SMP:00143 SMP:00337 NCBI chr13:37,555,035...37,564,241
Ensembl chr13:37,555,045...37,564,810
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 3:52,764,418...52,779,516
Ensembl chr 3:52,764,418...52,779,746
JBrowse link
G CASP7 caspase 7 ISO SMPDB SMP:00501 NCBI chr28:24,599,866...24,630,018
Ensembl chr28:24,599,493...24,628,668
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00501 NCBI chr12:20,999,815...21,047,779
Ensembl chr12:21,000,792...21,047,779
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00501 NCBI chr 6:55,204,602...55,244,217 JBrowse link
G GGCT gamma-glutamylcyclotransferase ISO SMPDB SMP:00501 NCBI chr14:43,244,220...43,252,930
Ensembl chr14:43,245,102...43,252,923
JBrowse link
G GGT6 gamma-glutamyltransferase 6 ISO SMPDB SMP:00501 NCBI chr 5:30,540,461...30,543,878
Ensembl chr 5:30,540,450...30,543,773
JBrowse link
G GPX1 glutathione peroxidase 1 ISO SMPDB SMP:00501 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
JBrowse link
G GSR glutathione-disulfide reductase ISO SMPDB SMP:00501 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
JBrowse link
G GSS glutathione synthetase ISO SMPDB SMP:00501 NCBI chr24:23,973,807...24,000,281
Ensembl chr24:23,901,045...23,997,286
JBrowse link
G GSTO2 glutathione S-transferase omega 2 ISO SMPDB SMP:00501 NCBI chr28:16,580,250...16,604,977
Ensembl chr28:16,586,777...16,604,976
JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing ISO SMPDB SMP:00501 NCBI chr13:37,555,035...37,564,241
Ensembl chr13:37,555,045...37,564,810
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 chr24:23,410,553...23,423,494
Ensembl chr24:23,411,140...23,419,767
JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00222 NCBI chr12:67,432,871...67,453,791
Ensembl chr12:67,448,141...67,451,696
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00222 NCBI chr 3:27,732,381...27,752,168
Ensembl chr 3:27,734,108...27,752,046
JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00222 NCBI chr31:37,230,900...37,247,170 JBrowse link
G CHDH choline dehydrogenase ISO SMPDB SMP:00222 NCBI chr20:36,150,214...36,188,976
Ensembl chr20:36,150,229...36,187,068
JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00222 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO SMPDB SMP:00222 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00222 NCBI chr 1:106,636,282...106,673,438
Ensembl chr 1:106,657,477...106,673,422
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00222 NCBI chr10:1,588,503...1,606,752
Ensembl chr10:1,588,875...1,606,750
JBrowse link
G MAT2A methionine adenosyltransferase 2A ISO SMPDB SMP:00222 NCBI chr17:39,525,635...39,532,512
Ensembl chr17:39,525,626...39,532,512
JBrowse link
G MAT2B methionine adenosyltransferase 2B ISO SMPDB SMP:00222 NCBI chr 4:47,703,991...47,726,363
Ensembl chr 4:47,709,576...47,726,360
JBrowse link
G MSRB2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00222 NCBI chr 2:10,134,747...10,152,830
Ensembl chr 2:10,135,112...10,152,836
JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00222 NCBI chr10:7,892,745...8,040,196
Ensembl chr10:7,892,640...8,038,043
JBrowse link
G MTAP methylthioadenosine phosphorylase ISO SMPDB SMP:00222 NCBI chr11:41,148,389...41,200,635
Ensembl chr11:41,148,404...41,264,504
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00222 NCBI chr30:29,388,600...29,415,578
Ensembl chr30:29,388,649...29,450,430
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO SMPDB SMP:00222 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00222 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00222 NCBI chr 5:41,221,531...41,248,653
Ensembl chr 5:41,221,562...41,253,166
JBrowse link
G SRM spermidine synthase ISO SMPDB SMP:00222 NCBI chr 2:84,968,833...84,973,111
Ensembl chr 2:84,967,570...84,973,087
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 chr 5:40,466,237...40,474,272
Ensembl chr 5:40,466,237...40,474,457
JBrowse link
G AOC1 amine oxidase copper containing 1 ISO SMPDB SMP:00190 NCBI chr16:14,955,528...14,963,283
Ensembl chr16:14,958,658...15,036,651
JBrowse link
G COMT catechol-O-methyltransferase ISO SMPDB SMP:00190 NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008
JBrowse link
G DBH dopamine beta-hydroxylase ISO SMPDB SMP:00190 NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130
JBrowse link
G DCT dopachrome tautomerase ISO SMPDB SMP:00190 NCBI chr22:45,271,709...45,305,272
Ensembl chr22:45,271,709...45,305,346
JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00190 NCBI chr18:1,802,239...1,876,714
Ensembl chr18:1,803,273...1,867,616
JBrowse link
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00190 NCBI chr 3:57,300,422...57,326,546
Ensembl chr 3:57,300,441...57,326,486
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00190 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579
JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00190 NCBI chr 8:50,133,496...50,143,487
Ensembl chr 8:50,133,714...50,143,439
JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00190 NCBI chr10:45,368,157...45,379,521
Ensembl chr10:45,368,178...45,379,160
JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00190 NCBI chr33:24,066,099...24,107,827
Ensembl chr33:24,066,306...24,151,354
JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00190 NCBI chr26:7,430,891...7,440,643
Ensembl chr26:7,430,933...7,440,611
JBrowse link
G LOC100856533 alcohol dehydrogenase E chain ISO SMPDB SMP:00190 NCBI chr32:21,422,428...21,437,058 JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00190 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757
JBrowse link
G MIF macrophage migration inhibitory factor ISO SMPDB SMP:00190
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00190 NCBI chr 9:22,808,505...22,810,587
Ensembl chr 9:22,808,601...22,810,551
JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00190 NCBI chr 5:77,365,589...77,378,474
Ensembl chr 5:77,366,138...77,378,419
JBrowse link
G TYR tyrosinase ISO SMPDB SMP:00190 NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191
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 chr26:9,319,109...9,361,021 JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00191 NCBI chr 5:40,466,237...40,474,272
Ensembl chr 5:40,466,237...40,474,457
JBrowse link
G AMDHD1 amidohydrolase domain containing 1 ISO SMPDB SMP:00191 NCBI chr15:35,741,190...35,761,848
Ensembl chr15:35,692,161...35,760,978
JBrowse link
G AOC1 amine oxidase copper containing 1 ISO SMPDB SMP:00191 NCBI chr16:14,955,528...14,963,283
Ensembl chr16:14,958,658...15,036,651
JBrowse link
G CARNMT1 carnosine N-methyltransferase 1 ISO SMPDB SMP:00191 NCBI chr 1:83,188,622...83,229,942
Ensembl chr 1:83,188,747...83,227,488
JBrowse link
G CARNS1 carnosine synthase 1 ISO SMPDB SMP:00191 NCBI chr18:50,041,545...50,050,438
Ensembl chr18:50,042,465...50,050,949
JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO SMPDB SMP:00191 NCBI chr 1:4,875,790...4,912,148
Ensembl chr 1:4,876,794...4,911,976
JBrowse link
G CNDP2 carnosine dipeptidase 2 ISO SMPDB SMP:00191 NCBI chr 1:4,914,739...4,931,700
Ensembl chr 1:4,914,737...4,929,449
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO SMPDB SMP:00191 NCBI chr31:39,451,557...39,464,249
Ensembl chr31:39,275,159...39,464,715
JBrowse link
G HAL histidine ammonia-lyase ISO SMPDB SMP:00191 NCBI chr15:35,767,314...35,791,086
Ensembl chr15:35,759,672...35,791,003
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO SMPDB SMP:00191 NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583
JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00191 NCBI chr 2:35,843,611...35,851,257
Ensembl chr 2:35,843,706...35,850,760
JBrowse link
G HDC histidine decarboxylase ISO SMPDB SMP:00191 NCBI chr30:16,201,222...16,223,452
Ensembl chr30:16,201,589...16,223,662
JBrowse link
G HNMT histamine N-methyltransferase ISO SMPDB SMP:00191 NCBI chr19:40,656,266...40,702,498
Ensembl chr19:40,655,161...40,702,218
JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00191 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757
JBrowse link
G PRMT3 protein arginine methyltransferase 3 ISO SMPDB SMP:00191 NCBI chr21:42,406,327...42,530,157
Ensembl chr21:42,406,314...42,528,116
JBrowse link
G UROC1 urocanate hydratase 1 ISO SMPDB SMP:00191 NCBI chr20:676,624...717,109
Ensembl chr20:678,073...717,141
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 chr23:27,037,640...27,069,544
Ensembl chr23:27,037,921...27,069,456
JBrowse link
G HLCS holocarboxylase synthetase ISO SMPDB SMP:00564 NCBI chr31:31,934,796...32,159,866
Ensembl chr31:31,937,087...32,150,861
JBrowse link
G SPCS1 signal peptidase complex subunit 1 ISO SMPDB SMP:00564 NCBI chr20:37,091,420...37,092,972
Ensembl chr20:37,091,792...37,263,577
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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00385 NCBI chr 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540
JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 ISO SMPDB SMP:00385 NCBI chr35:22,560,005...22,590,996
Ensembl chr35:22,560,008...22,587,875
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00385 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00385 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697
JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00385 NCBI chr 6:22,276,189...22,299,865
Ensembl chr 6:22,276,230...22,297,428
JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00385 NCBI chr36:15,351,289...15,391,701
Ensembl chr36:15,349,683...15,391,824
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00385 NCBI chr12:20,999,815...21,047,779
Ensembl chr12:21,000,792...21,047,779
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00385 NCBI chr 6:55,204,602...55,244,217 JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00385 NCBI chr10:68,067,817...68,125,001
Ensembl chr10:68,073,062...68,125,007
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00385 NCBI chr10:722,105...737,857
Ensembl chr10:722,202...737,753
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00385 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GLUL glutamate-ammonia ligase ISO SMPDB SMP:00385 NCBI chr 7:15,730,898...15,740,241
Ensembl chr 7:15,730,898...15,740,241
JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00385 NCBI chr23:49,569,571...49,645,999
Ensembl chr23:49,569,531...49,699,199
JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00385 NCBI chr 8:28,992,173...29,005,511
Ensembl chr 8:28,993,227...29,005,435
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00385 NCBI chr 2:57,968,833...57,994,219
Ensembl chr 2:57,968,833...57,994,218
JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00385 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156
JBrowse link
G GSR glutathione-disulfide reductase ISO SMPDB SMP:00385 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
JBrowse link
G GSS glutathione synthetase ISO SMPDB SMP:00385 NCBI chr24:23,973,807...24,000,281
Ensembl chr24:23,901,045...23,997,286
JBrowse link
G NADSYN1 NAD synthetase 1 ISO SMPDB SMP:00385 NCBI chr18:47,216,547...47,254,582
Ensembl chr18:47,216,577...47,254,514
JBrowse link
G NAGK N-acetylglucosamine kinase ISO SMPDB SMP:00385 NCBI chr17:51,367,477...51,376,461 JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00385 NCBI chr13:48,618,460...48,656,164
Ensembl chr13:48,620,714...48,655,780
JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00385 NCBI chr20:40,077,856...40,085,100
Ensembl chr20:40,078,163...40,085,099
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 chr24:23,410,553...23,423,494
Ensembl chr24:23,411,140...23,419,767
JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00177 NCBI chr12:67,432,871...67,453,791
Ensembl chr12:67,448,141...67,451,696
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00177 NCBI chr 3:27,732,381...27,752,168
Ensembl chr 3:27,734,108...27,752,046
JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00177 SMP:00515 NCBI chr31:37,230,900...37,247,170 JBrowse link
G CHDH choline dehydrogenase ISO SMPDB SMP:00177 NCBI chr20:36,150,214...36,188,976
Ensembl chr20:36,150,229...36,187,068
JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00177 SMP:00515 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO SMPDB SMP:00177 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00177 NCBI chr 1:106,636,282...106,673,438
Ensembl chr 1:106,657,477...106,673,422
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00177 NCBI chr10:1,588,503...1,606,752
Ensembl chr10:1,588,875...1,606,750
JBrowse link
G MAT2A methionine adenosyltransferase 2A ISO SMPDB SMP:00177 NCBI chr17:39,525,635...39,532,512
Ensembl chr17:39,525,626...39,532,512
JBrowse link
G MAT2B methionine adenosyltransferase 2B ISO SMPDB SMP:00177 NCBI chr 4:47,703,991...47,726,363
Ensembl chr 4:47,709,576...47,726,360
JBrowse link
G MSRB2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00177 NCBI chr 2:10,134,747...10,152,830
Ensembl chr 2:10,135,112...10,152,836
JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00177 NCBI chr10:7,892,745...8,040,196
Ensembl chr10:7,892,640...8,038,043
JBrowse link
G MTAP methylthioadenosine phosphorylase ISO SMPDB SMP:00177 NCBI chr11:41,148,389...41,200,635
Ensembl chr11:41,148,404...41,264,504
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00177 NCBI chr30:29,388,600...29,415,578
Ensembl chr30:29,388,649...29,450,430
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO SMPDB SMP:00177 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00177 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00177 NCBI chr 5:41,221,531...41,248,653
Ensembl chr 5:41,221,562...41,253,166
JBrowse link
G SRM spermidine synthase ISO SMPDB SMP:00177 NCBI chr 2:84,968,833...84,973,111
Ensembl chr 2:84,967,570...84,973,087
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 chr12:242,717...255,736
Ensembl chr12:242,714...255,305
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00357 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00357 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00357 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00357 NCBI chr10:722,105...737,857
Ensembl chr10:722,202...737,753
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00357 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00357 NCBI chr 2:57,968,833...57,994,219
Ensembl chr 2:57,968,833...57,994,218
JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00357 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00357 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00357 NCBI chr10:64,482,840...64,508,288
Ensembl chr10:64,483,060...64,505,747
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00357 NCBI chr 1:109,150,205...109,161,375
Ensembl chr 1:109,150,205...109,161,141
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00357 NCBI chr36:16,185,011...16,391,080
Ensembl chr36:16,185,649...16,483,016
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00357 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054
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 chr25:20,920,118...20,944,251
Ensembl chr25:20,920,139...20,945,387
JBrowse link
G AASS aminoadipate-semialdehyde synthase ISO SMPDB SMP:00527 NCBI chr14:59,950,123...59,993,457
Ensembl chr14:59,951,216...60,000,212
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00527 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00527 NCBI chr11:15,828,581...15,878,556
Ensembl chr11:15,815,936...15,878,516
JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00527 NCBI chr 2:24,298,323...24,349,848
Ensembl chr 2:24,299,789...24,349,899
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00527 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00527 NCBI chr 8:48,003,730...48,025,001
Ensembl chr 8:48,002,211...48,024,999
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00527 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chr32:28,460,445...28,506,141
Ensembl chr32:28,460,193...28,531,280
JBrowse link
G PIPOX pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00527 NCBI chr 9:43,200,343...43,212,288
Ensembl chr 9:43,200,371...43,212,288
JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO SMPDB SMP:00527 NCBI chr 2:36,286,080...36,287,619
Ensembl chr 2:36,286,584...36,287,489
JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO SMPDB SMP:00527 NCBI chr16:40,855,270...40,879,956
Ensembl chr16:40,745,458...40,875,106
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 chr24:23,410,553...23,423,494
Ensembl chr24:23,411,140...23,419,767
JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00341 NCBI chr12:67,432,871...67,453,791
Ensembl chr12:67,448,141...67,451,696
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00341 NCBI chr 3:27,732,381...27,752,168
Ensembl chr 3:27,734,108...27,752,046
JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00341 NCBI chr31:37,230,900...37,247,170 JBrowse link
G CHDH choline dehydrogenase ISO SMPDB SMP:00341 NCBI chr20:36,150,214...36,188,976
Ensembl chr20:36,150,229...36,187,068
JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00341 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO SMPDB SMP:00341 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00341 NCBI chr 1:106,636,282...106,673,438
Ensembl chr 1:106,657,477...106,673,422
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00341 NCBI chr10:1,588,503...1,606,752
Ensembl chr10:1,588,875...1,606,750
JBrowse link
G MAT2A methionine adenosyltransferase 2A ISO SMPDB SMP:00341 NCBI chr17:39,525,635...39,532,512
Ensembl chr17:39,525,626...39,532,512
JBrowse link
G MAT2B methionine adenosyltransferase 2B ISO SMPDB SMP:00341 NCBI chr 4:47,703,991...47,726,363
Ensembl chr 4:47,709,576...47,726,360
JBrowse link
G MSRB2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00341 NCBI chr 2:10,134,747...10,152,830
Ensembl chr 2:10,135,112...10,152,836
JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00341 NCBI chr10:7,892,745...8,040,196
Ensembl chr10:7,892,640...8,038,043
JBrowse link
G MTAP methylthioadenosine phosphorylase ISO SMPDB SMP:00341 NCBI chr11:41,148,389...41,200,635
Ensembl chr11:41,148,404...41,264,504
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00341 NCBI chr30:29,388,600...29,415,578
Ensembl chr30:29,388,649...29,450,430
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO SMPDB SMP:00341 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00341 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00341 NCBI chr 5:41,221,531...41,248,653
Ensembl chr 5:41,221,562...41,253,166
JBrowse link
G SRM spermidine synthase ISO SMPDB SMP:00341 NCBI chr 2:84,968,833...84,973,111
Ensembl chr 2:84,967,570...84,973,087
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 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540
JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00361 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00361 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00361 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00361 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697
JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00361 NCBI chr26:18,032,663...18,057,277
Ensembl chr26:18,033,392...18,057,238
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00361 NCBI chr38:14,754,628...14,823,626
Ensembl chr38:14,754,632...14,823,621
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00361 NCBI chr20:57,440,698...57,442,588 JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00361 NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00361 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00361 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579
JBrowse link
G LOC100855552 creatine kinase B-type ISO SMPDB SMP:00361 NCBI chr 8:71,284,104...71,287,379 JBrowse link
G LOC477562 proline dehydrogenase 1, mitochondrial ISO SMPDB SMP:00361 NCBI chr26:29,039,007...29,059,722 JBrowse link
G NOS1 nitric oxide synthase 1 ISO SMPDB SMP:00361 NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332
JBrowse link
G OAT ornithine aminotransferase ISO SMPDB SMP:00361 NCBI chr28:33,763,661...33,788,817
Ensembl chr28:33,758,473...33,788,759
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00361 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595
JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00361 NCBI chr21:23,991,474...24,033,086
Ensembl chr21:23,991,469...24,032,642
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00361 NCBI chr 7:38,902,705...38,905,924 JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00361 NCBI chr12:46,993,787...47,047,295
Ensembl chr12:46,992,959...47,047,240
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00361 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054
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 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540
JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00360 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00360 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00360 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00360 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697
JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00360 NCBI chr26:18,032,663...18,057,277
Ensembl chr26:18,033,392...18,057,238
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00360 NCBI chr38:14,754,628...14,823,626
Ensembl chr38:14,754,632...14,823,621
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00360 NCBI chr20:57,440,698...57,442,588 JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00360 NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00360 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00360 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579
JBrowse link
G LOC100855552 creatine kinase B-type ISO SMPDB SMP:00360 NCBI chr 8:71,284,104...71,287,379 JBrowse link
G LOC477562 proline dehydrogenase 1, mitochondrial ISO SMPDB SMP:00360 NCBI chr26:29,039,007...29,059,722 JBrowse link
G NOS1 nitric oxide synthase 1 ISO SMPDB SMP:00360 NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332
JBrowse link
G OAT ornithine aminotransferase ISO SMPDB SMP:00360 NCBI chr28:33,763,661...33,788,817
Ensembl chr28:33,758,473...33,788,759
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00360 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595
JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00360 NCBI chr21:23,991,474...24,033,086
Ensembl chr21:23,991,469...24,032,642
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00360 NCBI chr 7:38,902,705...38,905,924 JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00360 NCBI chr12:46,993,787...47,047,295
Ensembl chr12:46,992,959...47,047,240
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00360 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054
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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00523 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00523 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00523 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00523 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00523 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00523 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00523 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00523 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283
JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00523 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00523 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00523 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00523 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00523 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00523 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00523 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00523 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00523 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00523 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00523 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00523 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00523 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00523 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00523 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00523 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00523 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00523 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00523 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00523 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00523 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366
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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00238 SMP:00524 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283
JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00238 SMP:00524 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00238 SMP:00524 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00238 SMP:00524 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00238 SMP:00524 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00238 SMP:00524 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00238 SMP:00524 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366
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 (Colton blood group) ISO SMPDB SMP:00197 SMP:00585 NCBI chr14:43,592,266...43,603,903
Ensembl chr14:43,578,721...43,605,720
JBrowse link
G AQP2 aquaporin 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr27:4,743,127...4,750,907
Ensembl chr27:4,743,127...4,750,907
JBrowse link
G AQP3 aquaporin 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr11:50,517,509...50,524,565 JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr17:53,828,482...53,847,043
Ensembl chr17:53,813,976...53,847,167
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916
JBrowse link
G ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chr38:22,023,176...22,080,656
Ensembl chr38:22,023,221...22,080,604
JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 7:29,464,132...29,487,124
Ensembl chr 7:29,464,132...29,487,947
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 5:32,548,591...32,553,911
Ensembl chr 5:32,549,167...32,553,504
JBrowse link
G ATP1B3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr23:37,684,507...37,727,535
Ensembl chr23:37,684,506...37,726,746
JBrowse link
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chr  X:92,347,443...92,368,206
Ensembl chr  X:92,347,684...92,365,341
JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 5:15,812,335...15,824,552
Ensembl chr 5:15,815,969...15,823,057
JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr15:46,390,030...46,718,000
Ensembl chr15:46,390,023...46,710,131
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00197 SMP:00585 NCBI chr27:38,612,206...38,638,212
Ensembl chr27:38,612,194...38,638,980
JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00197 SMP:00585 NCBI chr 6:22,439,643...22,481,349
Ensembl chr 6:22,439,643...22,481,349
JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO SMPDB SMP:00197 SMP:00585 NCBI chr 5:56,455,677...56,466,035
Ensembl chr 5:56,461,939...56,465,595
JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00197 SMP:00585 NCBI chr 6:22,566,568...22,593,479
Ensembl chr 6:22,567,711...22,593,503
JBrowse link
G SLC12A1 solute carrier family 12 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr30:14,458,373...14,548,870
Ensembl chr30:14,459,606...14,547,694
JBrowse link
G SLC12A3 solute carrier family 12 member 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 2:59,413,737...59,449,129
Ensembl chr 2:59,413,828...59,449,081
JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr30:773,021...860,936
Ensembl chr30:773,933...858,487
JBrowse link
G SLC14A2 solute carrier family 14 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 7:45,435,387...45,868,977
Ensembl chr 7:45,431,450...45,490,430
JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:92,898,274...92,978,260
Ensembl chr 1:92,898,274...92,978,260
JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:49,327,621...49,348,435
Ensembl chr 1:49,327,296...49,348,435
JBrowse link
G SLC22A6 solute carrier family 22 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr18:53,736,669...53,745,001
Ensembl chr18:53,736,959...53,744,396
JBrowse link
G SLC38A4 solute carrier family 38 member 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chr27:7,685,955...7,756,222
Ensembl chr27:7,685,660...7,770,363
JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr10:46,690,555...46,737,417
Ensembl chr10:46,685,137...46,737,147
JBrowse link
G SLC3A2 solute carrier family 3 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr18:53,810,468...53,819,021
Ensembl chr18:53,810,398...53,819,021
JBrowse link
G SLC6A20 solute carrier family 6 member 20 ISO SMPDB SMP:00197 SMP:00585 NCBI chr20:42,702,368...42,725,804
Ensembl chr20:42,702,379...42,724,658
JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858
JBrowse link
G SLC7A6 solute carrier family 7 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 5:81,229,251...81,267,325
Ensembl chr 5:81,231,680...81,252,295
JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 8:3,132,735...3,209,259
Ensembl chr 8:3,133,139...3,165,832
JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 8:3,430,208...3,479,985
Ensembl chr 8:3,430,208...3,479,985
JBrowse link
G SLC7A9 solute carrier family 7 member 9 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:119,205,833...119,229,054
Ensembl chr 1:119,205,833...119,229,054
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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00199 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00199 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00199 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00199 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00199 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00199 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00199 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00199 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283
JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00199 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00199 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00199 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00199 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00199 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00199 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00199 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00199 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00199 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00199 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00199 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00199 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00199 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00199 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00199 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00199 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00199 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00199 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00199 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00199 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00199 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366
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 chr18:46,959,743...47,007,521
Ensembl chr18:46,959,743...47,007,460
JBrowse link
G CDO1 cysteine dioxygenase type 1 ISO SMPDB SMP:00499 NCBI chr11:5,512,996...5,524,556
Ensembl chr11:5,371,378...5,524,562
JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00499 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451
JBrowse link
G CTNS cystinosin, lysosomal cystine transporter ISO SMPDB SMP:00499 NCBI chr 9:47,474,488...47,490,951
Ensembl chr 9:47,473,901...47,490,252
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00499 NCBI chr12:20,999,815...21,047,779
Ensembl chr12:21,000,792...21,047,779
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00499 NCBI chr 6:55,204,602...55,244,217 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00499 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579
JBrowse link
G MPST mercaptopyruvate sulfurtransferase ISO SMPDB SMP:00499 NCBI chr10:27,465,007...27,469,788
Ensembl chr10:27,443,865...27,469,554
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 chr24:23,410,553...23,423,494
Ensembl chr24:23,411,140...23,419,767
JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00340 NCBI chr12:67,432,871...67,453,791
Ensembl chr12:67,448,141...67,451,696
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00340 NCBI chr 3:27,732,381...27,752,168
Ensembl chr 3:27,734,108...27,752,046
JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00340 NCBI chr31:37,230,900...37,247,170 JBrowse link
G CHDH choline dehydrogenase ISO SMPDB SMP:00340 NCBI chr20:36,150,214...36,188,976
Ensembl chr20:36,150,229...36,187,068
JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00340 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO SMPDB SMP:00340 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00340 NCBI chr 1:106,636,282...106,673,438
Ensembl chr 1:106,657,477...106,673,422
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00340 NCBI chr10:1,588,503...1,606,752
Ensembl chr10:1,588,875...1,606,750
JBrowse link
G MAT2A methionine adenosyltransferase 2A ISO SMPDB SMP:00340 NCBI chr17:39,525,635...39,532,512
Ensembl chr17:39,525,626...39,532,512
JBrowse link
G MAT2B methionine adenosyltransferase 2B ISO SMPDB SMP:00340 NCBI chr 4:47,703,991...47,726,363
Ensembl chr 4:47,709,576...47,726,360
JBrowse link
G MSRB2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00340 NCBI chr 2:10,134,747...10,152,830
Ensembl chr 2:10,135,112...10,152,836
JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00340 NCBI chr10:7,892,745...8,040,196
Ensembl chr10:7,892,640...8,038,043
JBrowse link
G MTAP methylthioadenosine phosphorylase ISO SMPDB SMP:00340 NCBI chr11:41,148,389...41,200,635
Ensembl chr11:41,148,404...41,264,504
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00340 NCBI chr30:29,388,600...29,415,578
Ensembl chr30:29,388,649...29,450,430
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO SMPDB SMP:00340 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00340 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00340 NCBI chr 5:41,221,531...41,248,653
Ensembl chr 5:41,221,562...41,253,166
JBrowse link
G SRM spermidine synthase ISO SMPDB SMP:00340 NCBI chr 2:84,968,833...84,973,111
Ensembl chr 2:84,967,570...84,973,087
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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00384 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00384 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00384 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00384 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00384 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00384 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00384 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00384 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283
JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00384 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00384 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00384 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00384 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00384 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00384 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00384 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00384 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00384 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00384 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00384 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00384 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00384 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00384 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00384 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00384 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00384 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00384 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00384 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00384 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00384 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366
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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00200 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00200 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00200 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00200 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00200 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00200 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00200 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00200 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283
JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00200 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00200 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00200 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00200 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00200 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00200 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00200 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00200 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00200 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00200 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00200 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00200 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00200 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00200 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00200 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00200 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00200 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00200 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00200 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00200 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00200 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366
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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ACACA acetyl-CoA carboxylase alpha ISO SMPDB SMP:00201 NCBI chr 9:36,904,204...37,188,096
Ensembl chr 9:36,905,293...37,187,892
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00201 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00201 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ACSS1 acyl-CoA synthetase short chain family member 1 ISO SMPDB SMP:00201 NCBI chr23:1,192,771...1,251,724
Ensembl chr23:1,184,392...1,252,255
JBrowse link
G ACSS3 acyl-CoA synthetase short chain family member 3 ISO SMPDB SMP:00201 NCBI chr15:23,337,386...23,480,766
Ensembl chr15:23,338,432...23,478,593
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00201 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00201 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00201 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00201 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00201 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00201 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00201 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941
JBrowse link
G LDHAL6B lactate dehydrogenase A like 6B ISO SMPDB SMP:00201 NCBI chr 1:46,878,452...46,880,160 JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00201 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830
JBrowse link
G MLYCD malonyl-CoA decarboxylase ISO SMPDB SMP:00201 NCBI chr 5:68,385,058...68,399,965
Ensembl chr 5:68,384,618...68,399,965
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00201 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00201 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00201 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366
JBrowse link
nonketotic hyperglycinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate and serine--pyruvate aminotransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr25:50,968,291...50,976,089 JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr20:37,552,813...37,566,417
Ensembl chr20:37,552,814...37,566,638
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00223 SMP:00485 NCBI chr26:9,319,109...9,361,021 JBrowse link
G AMT aminomethyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr20:39,815,449...39,820,907
Ensembl chr20:39,815,814...39,820,506
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 3:27,732,381...27,752,168
Ensembl chr 3:27,734,108...27,752,046
JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00223 SMP:00485 NCBI chr31:37,230,900...37,247,170 JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
JBrowse link
G DMGDH dimethylglycine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 3:27,789,089...27,857,348
Ensembl chr 3:27,790,324...27,856,601
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr20:57,440,698...57,442,588 JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr14:43,308,274...43,351,999
Ensembl chr14:43,308,152...43,396,487
JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214
JBrowse link
G GCAT glycine C-acetyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr10:26,821,121...26,827,496
Ensembl chr10:26,821,027...26,827,707
JBrowse link
G GLDC glycine decarboxylase ISO SMPDB SMP:00223 SMP:00485 NCBI chr11:27,491,639...27,584,450
Ensembl chr11:27,414,834...27,584,450
JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00223 SMP:00485 NCBI chr20:37,462,651...37,495,581
Ensembl chr20:37,462,659...37,465,807
JBrowse link
G GNMT glycine N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr12:11,500,363...11,503,075
Ensembl chr12:11,500,392...11,503,481
JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00223 SMP:00485 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757
JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr17:56,806,912...56,833,765 JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 1:80,376,469...80,408,177
Ensembl chr 1:80,377,115...80,408,162
JBrowse link
G PSPH phosphoserine phosphatase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 6:493,152...546,176
Ensembl chr 6:493,176...512,089
JBrowse link
G SARDH sarcosine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 9:50,030,397...50,093,556
Ensembl chr 9:50,030,707...50,091,553
JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 6:42,584,792...42,605,201
Ensembl chr 6:42,584,798...42,605,136
JBrowse link
G SDS serine dehydratase ISO SMPDB SMP:00223 SMP:00485 NCBI chr26:10,725,123...10,728,087 JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 5:41,221,531...41,248,653
Ensembl chr 5:41,221,562...41,253,166
JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00223 SMP:00485 NCBI chr10:1,357,347...1,362,511
Ensembl chr10:1,356,706...1,362,305
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 chr12:242,717...255,736
Ensembl chr12:242,714...255,305
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00205 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00205 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00205 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00205 NCBI chr10:722,105...737,857
Ensembl chr10:722,202...737,753
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00205 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00205 NCBI chr 2:57,968,833...57,994,219
Ensembl chr 2:57,968,833...57,994,218
JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00205 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00205 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00205 NCBI chr10:64,482,840...64,508,288
Ensembl chr10:64,483,060...64,505,747
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00205 NCBI chr 1:109,150,205...109,161,375
Ensembl chr 1:109,150,205...109,161,141
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00205 NCBI chr36:16,185,011...16,391,080
Ensembl chr36:16,185,649...16,483,016
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00205 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054
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 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540
JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00506 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00506 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00506 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00506 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697
JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00506 NCBI chr26:18,032,663...18,057,277
Ensembl chr26:18,033,392...18,057,238
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00506 NCBI chr38:14,754,628...14,823,626
Ensembl chr38:14,754,632...14,823,621
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00506 NCBI chr20:57,440,698...57,442,588 JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00506 NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00506 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00506 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579
JBrowse link
G LOC100855552 creatine kinase B-type ISO SMPDB SMP:00506 NCBI chr 8:71,284,104...71,287,379 JBrowse link
G LOC477562 proline dehydrogenase 1, mitochondrial ISO