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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 chr14:19,768,816...19,792,254
Ensembl chr14:19,768,499...19,791,938
JBrowse link
G AASS aminoadipate-semialdehyde synthase ISO SMPDB SMP:00719 NCBI chr18:24,938,366...25,039,197
Ensembl chr18:24,974,816...25,039,196
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00719 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00719 NCBI chr 2:129,663,226...129,709,728
Ensembl chr 2:129,662,296...129,713,729
JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00719 NCBI chr10:59,820,418...59,875,322
Ensembl chr10:59,790,073...59,875,245
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00719 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00719 NCBI chr 7:98,091,161...98,111,267
Ensembl chr 7:98,091,123...98,111,572
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00719 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr 8:113,952,561...114,005,510
Ensembl chr 8:113,950,033...114,005,512
JBrowse link
G LOC110255229 peroxisomal sarcosine oxidase ISO SMPDB SMP:00719 NCBI chr12:45,256,806...45,270,755
Ensembl chr12:45,257,188...45,322,767
JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO SMPDB SMP:00719 NCBI chr 2:142,943,565...142,947,313
Ensembl chr 2:142,944,078...142,944,980
JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO SMPDB SMP:00719 NCBI chr17:5,191,973...5,271,849
Ensembl chr17:5,122,265...5,271,849
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 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00138 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00138 NCBI chr 9:60,807,405...60,828,379 JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00138 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00138 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00138 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00138 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00138 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00138 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,357,952...97,381,841
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00138 NCBI chr15:104,157,748...104,234,533
Ensembl chr15:104,153,702...104,238,400
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00138 NCBI chr14:2,398,456...2,546,329
Ensembl chr14:2,398,462...2,546,320
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00138 NCBI chr 5:48,814,212...48,925,632
Ensembl chr 5:48,814,300...48,925,976
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00138 NCBI chr 6:49,381,995...49,398,745 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00138 NCBI chr 1:85,755,819...86,017,661
Ensembl chr 1:85,715,203...86,017,600
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00138 NCBI chr 4:117,884,657...117,924,006
Ensembl chr 4:117,875,002...117,937,561
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00138 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00138 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00138 NCBI chr18:44,985,410...45,102,171
Ensembl chr18:44,985,425...45,208,347
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00138 NCBI chr15:94,795,744...94,941,362
Ensembl chr15:94,785,453...94,941,381
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00138 NCBI chr 6:81,611,516...81,630,454
Ensembl chr 6:81,611,422...81,630,530
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00138 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,545...46,220,944
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00138 NCBI chr 1:130,896,488...130,910,582
Ensembl chr 1:130,893,983...130,940,350
JBrowse link
G LOC110260333 hydroxymethylglutaryl-CoA synthase, mitochondrial-like ISO SMPDB SMP:00138 NCBI chr 4:101,385,486...101,404,273
Ensembl chr 4:101,385,512...101,443,405
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00138 NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,912,828...121,106,666
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00138 NCBI chr16:47,917,308...47,996,540
Ensembl chr16:47,917,291...47,996,540
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00138 NCBI chr 1:143,993,714...144,022,372
Ensembl chr 1:143,993,731...144,024,879
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00138 NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,292...43,624,609
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00138 NCBI chr16:26,514,497...26,659,739
Ensembl chr16:26,512,396...26,659,845
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00138 NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,301,533
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00138 NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,317,497
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 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 9:60,807,405...60,828,379 JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00521 SMP:00522 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,357,952...97,381,841
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr15:104,157,748...104,234,533
Ensembl chr15:104,153,702...104,238,400
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00521 SMP:00522 NCBI chr14:2,398,456...2,546,329
Ensembl chr14:2,398,462...2,546,320
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 5:48,814,212...48,925,632
Ensembl chr 5:48,814,300...48,925,976
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00521 SMP:00522 NCBI chr 6:49,381,995...49,398,745 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:85,755,819...86,017,661
Ensembl chr 1:85,715,203...86,017,600
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 4:117,884,657...117,924,006
Ensembl chr 4:117,875,002...117,937,561
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr18:44,985,410...45,102,171
Ensembl chr18:44,985,425...45,208,347
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00521 SMP:00522 NCBI chr15:94,795,744...94,941,362
Ensembl chr15:94,785,453...94,941,381
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 6:81,611,516...81,630,454
Ensembl chr 6:81,611,422...81,630,530
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00521 SMP:00522 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,545...46,220,944
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:130,896,488...130,910,582
Ensembl chr 1:130,893,983...130,940,350
JBrowse link
G LOC110260333 hydroxymethylglutaryl-CoA synthase, mitochondrial-like ISO SMPDB SMP:00521 SMP:00522 NCBI chr 4:101,385,486...101,404,273
Ensembl chr 4:101,385,512...101,443,405
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,912,828...121,106,666
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr16:47,917,308...47,996,540
Ensembl chr16:47,917,291...47,996,540
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:143,993,714...144,022,372
Ensembl chr 1:143,993,731...144,024,879
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,292...43,624,609
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr16:26,514,497...26,659,739
Ensembl chr16:26,512,396...26,659,845
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00521 SMP:00522 NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,301,533
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00521 SMP:00522 NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,317,497
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 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00237 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00237 NCBI chr 9:60,807,405...60,828,379 JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00237 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00237 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00237 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00237 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00237 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00237 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,357,952...97,381,841
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00237 NCBI chr15:104,157,748...104,234,533
Ensembl chr15:104,153,702...104,238,400
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00237 NCBI chr14:2,398,456...2,546,329
Ensembl chr14:2,398,462...2,546,320
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00237 NCBI chr 5:48,814,212...48,925,632
Ensembl chr 5:48,814,300...48,925,976
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00237 NCBI chr 6:49,381,995...49,398,745 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00237 NCBI chr 1:85,755,819...86,017,661
Ensembl chr 1:85,715,203...86,017,600
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00237 NCBI chr 4:117,884,657...117,924,006
Ensembl chr 4:117,875,002...117,937,561
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00237 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00237 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00237 NCBI chr18:44,985,410...45,102,171
Ensembl chr18:44,985,425...45,208,347
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00237 NCBI chr15:94,795,744...94,941,362
Ensembl chr15:94,785,453...94,941,381
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00237 NCBI chr 6:81,611,516...81,630,454
Ensembl chr 6:81,611,422...81,630,530
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00237 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,545...46,220,944
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00237 NCBI chr 1:130,896,488...130,910,582
Ensembl chr 1:130,893,983...130,940,350
JBrowse link
G LOC110260333 hydroxymethylglutaryl-CoA synthase, mitochondrial-like ISO SMPDB SMP:00237 NCBI chr 4:101,385,486...101,404,273
Ensembl chr 4:101,385,512...101,443,405
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00237 NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,912,828...121,106,666
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00237 NCBI chr16:47,917,308...47,996,540
Ensembl chr16:47,917,291...47,996,540
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00237 NCBI chr 1:143,993,714...144,022,372
Ensembl chr 1:143,993,731...144,024,879
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00237 NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,292...43,624,609
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00237 NCBI chr16:26,514,497...26,659,739
Ensembl chr16:26,512,396...26,659,845
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00237 NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,301,533
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00237 NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,317,497
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 6:77,373,999...77,404,015
Ensembl chr 6:77,373,999...77,393,651
JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,038...32,028,986
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,869
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,361
JBrowse link
G CKB creatine kinase B ISO SMPDB SMP:00362 SMP:00507
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,209,999...113,339,078
JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00362 SMP:00507 NCBI chr14:41,931,549...41,950,628
Ensembl chr14:41,929,215...41,950,633
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr10:9,579,301...9,648,416
Ensembl chr10:9,579,301...9,648,414
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 2:77,076,566...77,079,751
Ensembl chr 2:77,076,566...77,079,766
JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:126,361,968...126,378,705
Ensembl chr 1:126,361,945...126,380,872
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr14:110,608,422...110,635,825
Ensembl chr14:110,608,430...110,635,874
JBrowse link
G LOC110256626 proline dehydrogenase 1, mitochondrial ISO SMPDB SMP:00362 SMP:00507 NCBI chr14:51,624,919...51,644,467 JBrowse link
G NOS1 nitric oxide synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,972
JBrowse link
G OAT ornithine aminotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr14:133,808,193...133,830,517 JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00362 SMP:00507 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,837
JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 9:8,627,365...8,681,804
Ensembl chr 9:8,627,412...8,667,774
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00362 SMP:00507 NCBI chr10:13,841,755...13,845,900 JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:55,906,508...55,982,094
Ensembl chr 1:55,893,480...55,982,068
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00362 SMP:00507 NCBI chr11:15,494,176...15,551,172
Ensembl chr11:15,494,385...15,559,312
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 chr12:59,895,476...59,905,900
Ensembl chr12:59,897,496...59,905,967
JBrowse link
G AOC1 amine oxidase copper containing 1 ISO SMPDB SMP:00169 NCBI chr18:6,309,583...6,321,016
Ensembl chr18:6,306,835...6,320,974
JBrowse link
G COMT catechol-O-methyltransferase ISO SMPDB SMP:00169 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,133...51,403,998
JBrowse link
G DBH dopamine beta-hydroxylase ISO SMPDB SMP:00169 NCBI chr 1:273,204,407...273,225,562
Ensembl chr 1:273,204,400...273,225,558
JBrowse link
G DCT dopachrome tautomerase ISO SMPDB SMP:00169 NCBI chr11:63,584,865...63,647,486
Ensembl chr11:63,584,866...63,678,314
JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00169 NCBI chr 9:136,496,364...136,571,220
Ensembl chr 9:136,495,891...136,571,197
JBrowse link
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00169 NCBI chr 7:49,047,833...49,087,790
Ensembl chr 7:49,047,983...49,105,598
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00169 NCBI chr14:110,608,422...110,635,825
Ensembl chr14:110,608,430...110,635,874
JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00169 NCBI chr 7:100,392,217...100,404,025
Ensembl chr 7:100,392,271...100,408,423
JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00169 NCBI chr 3:97,580,756...97,595,033
Ensembl chr 3:97,580,851...97,595,021
JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00169 NCBI chr13:139,660,315...139,710,402
Ensembl chr13:139,660,343...139,710,405
JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00169 NCBI chr14:30,845,608...30,857,658
Ensembl chr14:30,845,613...30,857,667
JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00169 NCBI chr  X:38,930,452...39,006,220 JBrowse link
G MIF macrophage migration inhibitory factor ISO SMPDB SMP:00169 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,862,317
JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00169 NCBI chr12:22,648,396...22,651,520
Ensembl chr12:22,648,397...22,650,002
JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00169 NCBI chr 6:14,571,311...14,583,203
Ensembl chr 6:14,570,587...14,583,177
JBrowse link
G TYR tyrosinase ISO SMPDB SMP:00169 NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290
JBrowse link
argininosuccinic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00003 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,038...32,028,986
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00003 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,869
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00003 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,361
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00003 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,209,999...113,339,078
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00003 NCBI chr 5:21,806,405...21,820,001
Ensembl chr 5:21,806,406...21,820,001
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00003 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00003 NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,198...20,432,068
JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00003 NCBI chr 4:297,747...302,498
Ensembl chr 4:297,748...320,056
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00003 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,837
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00003 NCBI chr 3:76,938,102...76,970,519
Ensembl chr 3:76,938,105...76,970,508
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00003 NCBI chr 6:52,647,432...52,661,464
Ensembl chr 6:52,647,432...52,661,459
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00003 NCBI chr15:77,895,935...78,021,930
Ensembl chr15:77,895,935...78,098,383
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00003 NCBI chr11:15,494,176...15,551,172
Ensembl chr11:15,494,385...15,559,312
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 1:273,204,407...273,225,562
Ensembl chr 1:273,204,400...273,225,558
JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00170 NCBI chr 9:136,496,364...136,571,220
Ensembl chr 9:136,495,891...136,571,197
JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00170 NCBI chr12:22,648,396...22,651,520
Ensembl chr12:22,648,397...22,650,002
JBrowse link
G TH tyrosine hydroxylase ISO SMPDB SMP:00170 NCBI chr 2:1,499,628...1,506,180
Ensembl chr 2:1,499,618...1,506,615
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 chr13:2,840,425...2,902,619
Ensembl chr13:2,840,456...2,903,680
JBrowse link
G HLCS holocarboxylase synthetase ISO SMPDB SMP:00174 NCBI chr13:200,406,395...200,618,967
Ensembl chr13:200,407,540...200,608,129
JBrowse link
G SPCS1 signal peptidase complex subunit 1 ISO SMPDB SMP:00174 NCBI chr13:34,839,921...34,841,605
Ensembl chr13:34,839,383...34,841,605
JBrowse link
carbamoyl phosphate synthetase I deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00002 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,038...32,028,986
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,869
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,361
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,209,999...113,339,078
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chr 5:21,806,405...21,820,001
Ensembl chr 5:21,806,406...21,820,001
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,198...20,432,068
JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00002 NCBI chr 4:297,747...302,498
Ensembl chr 4:297,748...320,056
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00002 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,837
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chr 3:76,938,102...76,970,519
Ensembl chr 3:76,938,105...76,970,508
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chr 6:52,647,432...52,661,464
Ensembl chr 6:52,647,432...52,661,459
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chr15:77,895,935...78,021,930
Ensembl chr15:77,895,935...78,098,383
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chr11:15,494,176...15,551,172
Ensembl chr11:15,494,385...15,559,312
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 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00493 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00493 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,357,952...97,381,841
JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO SMPDB SMP:00493 NCBI chr 1:149,523,983...149,564,728
Ensembl chr 1:149,521,510...149,562,528
JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO SMPDB SMP:00493 NCBI chr 4:119,931,471...120,712,461
Ensembl chr 4:119,931,458...120,712,462
JBrowse link
G DPYS dihydropyrimidinase ISO SMPDB SMP:00493 NCBI chr 4:32,791,152...32,879,489
Ensembl chr 4:32,789,460...32,879,489
JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00493 NCBI chr15:76,991,863...77,034,819
Ensembl chr15:76,991,928...77,034,817
JBrowse link
G LOC110256000 membrane primary amine oxidase-like ISO SMPDB SMP:00493 NCBI chr12:19,996,324...20,007,006 JBrowse link
G UPB1 beta-ureidopropionase 1 ISO SMPDB SMP:00493 NCBI chr14:49,533,208...49,561,518
Ensembl chr14:49,533,226...49,565,100
JBrowse link
citrullinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00001 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,038...32,028,986
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00001 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,869
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00001 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,361
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00001 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,209,999...113,339,078
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00001 NCBI chr 5:21,806,405...21,820,001
Ensembl chr 5:21,806,406...21,820,001
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00001 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00001 NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,198...20,432,068
JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00001 NCBI chr 4:297,747...302,498
Ensembl chr 4:297,748...320,056
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00001 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,837
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00001 NCBI chr 3:76,938,102...76,970,519
Ensembl chr 3:76,938,105...76,970,508
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00001 NCBI chr 6:52,647,432...52,661,464
Ensembl chr 6:52,647,432...52,661,459
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00001 NCBI chr15:77,895,935...78,021,930
Ensembl chr15:77,895,935...78,098,383
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00001 NCBI chr11:15,494,176...15,551,172
Ensembl chr11:15,494,385...15,559,312
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 chr13:206,205,942...206,231,363 JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00514 NCBI chr 6:142,454,922...142,486,352
Ensembl chr 6:142,435,690...142,486,367
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 chr15:139,720,648...139,730,737
Ensembl chr15:139,720,612...139,730,736
JBrowse link
G ALAS1 aminolevulinate, delta-, synthase 1 pseudogene ISO SMPDB SMP:00242 SMP:00484 NCBI chr13:34,333,263...34,347,435
Ensembl chr13:34,333,113...34,347,590
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00242 SMP:00484 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G AMT aminomethyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr13:31,995,600...32,002,514
Ensembl chr13:31,995,595...32,002,470
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 2:87,911,093...87,935,252
Ensembl chr 2:87,866,607...87,935,253
JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00242 SMP:00484 NCBI chr13:206,205,942...206,231,363 JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 6:142,454,922...142,486,352
Ensembl chr 6:142,435,690...142,486,367
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G DMGDH dimethylglycine dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 2:87,791,827...87,867,189
Ensembl chr 2:87,678,811...87,866,856
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 2:77,076,566...77,079,751
Ensembl chr 2:77,076,566...77,079,766
JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162
JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 1:126,361,968...126,378,705
Ensembl chr 1:126,361,945...126,380,872
JBrowse link
G GCAT glycine C-acetyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 5:10,027,133...10,038,494
Ensembl chr 5:10,011,009...10,038,433
JBrowse link
G GLDC glycine decarboxylase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 1:215,608,854...215,715,062
Ensembl chr 1:215,608,849...215,715,061
JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00242 SMP:00484 NCBI chr13:34,433,403...34,440,037
Ensembl chr13:34,433,398...34,440,288
JBrowse link
G GNMT glycine N-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 7:38,038,359...38,041,218
Ensembl chr 7:38,038,358...38,041,218
JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00242 SMP:00484 NCBI chr  X:38,930,452...39,006,220 JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 4:101,445,977...101,478,144
Ensembl chr 4:101,408,308...101,478,144
JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 1:231,142,673...231,172,364
Ensembl chr 1:231,142,625...231,172,363
JBrowse link
G PSPH phosphoserine phosphatase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 3:16,877,904...16,903,062
Ensembl chr 3:16,877,923...16,907,952
JBrowse link
G SARDH sarcosine dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 1:273,230,357...273,295,170
Ensembl chr 1:273,228,838...273,295,104
JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 4:110,857,067...110,874,712
Ensembl chr 4:110,857,088...110,874,815
JBrowse link
G SDS serine dehydratase ISO SMPDB SMP:00242 SMP:00484 NCBI chr14:38,503,922...38,513,908
Ensembl chr14:38,503,930...38,513,880
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr12:60,414,421...60,435,451
Ensembl chr12:60,414,446...60,435,450
JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 5:22,535,780...22,540,322
Ensembl chr 5:22,532,894...22,540,321
JBrowse link
G SRR serine racemase ISO SMPDB SMP:00242 SMP:00484 NCBI chr12:48,386,915...48,407,917
Ensembl chr12:48,386,674...48,462,849
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 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00351 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00351 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,357,952...97,381,841
JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO SMPDB SMP:00351 NCBI chr 1:149,523,983...149,564,728
Ensembl chr 1:149,521,510...149,562,528
JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO SMPDB SMP:00351 NCBI chr 4:119,931,471...120,712,461
Ensembl chr 4:119,931,458...120,712,462
JBrowse link
G DPYS dihydropyrimidinase ISO SMPDB SMP:00351 NCBI chr 4:32,791,152...32,879,489
Ensembl chr 4:32,789,460...32,879,489
JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00351 NCBI chr15:76,991,863...77,034,819
Ensembl chr15:76,991,928...77,034,817
JBrowse link
G LOC110256000 membrane primary amine oxidase-like ISO SMPDB SMP:00351 NCBI chr12:19,996,324...20,007,006 JBrowse link
G UPB1 beta-ureidopropionase 1 ISO SMPDB SMP:00351 NCBI chr14:49,533,208...49,561,518
Ensembl chr14:49,533,226...49,565,100
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 chr14:19,768,816...19,792,254
Ensembl chr14:19,768,499...19,791,938
JBrowse link
G AASS aminoadipate-semialdehyde synthase ISO SMPDB SMP:00186 NCBI chr18:24,938,366...25,039,197
Ensembl chr18:24,974,816...25,039,196
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00185 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00185 NCBI chr15:112,935,631...112,969,381
Ensembl chr15:112,933,498...112,969,578
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00185 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00185 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00185 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00185 NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,401...52,581,755
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00185 NCBI chr15:45,866,858...45,936,327
Ensembl chr15:45,866,851...46,090,099
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00186 NCBI chr 2:129,663,226...129,709,728
Ensembl chr 2:129,662,296...129,713,729
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00185 NCBI chr 2:4,250,642...4,293,914
Ensembl chr 2:4,233,099...4,293,984
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00185 NCBI chr 6:159,038,129...159,061,327
Ensembl chr 6:159,036,821...159,061,327
JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00186 NCBI chr10:59,820,418...59,875,322
Ensembl chr10:59,790,073...59,875,245
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00186 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00186 NCBI chr 7:98,091,161...98,111,267
Ensembl chr 7:98,091,123...98,111,572
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00185 SMP:00186 NCBI chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00186 NCBI chr 8:113,952,561...114,005,510
Ensembl chr 8:113,950,033...114,005,512
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00185 NCBI chr 3:112,753,343...112,797,627
Ensembl chr 3:112,752,865...112,797,735
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00185 NCBI chr 3:112,712,894...112,753,121
Ensembl chr 3:112,704,023...112,753,086
JBrowse link
G LOC110255229 peroxisomal sarcosine oxidase ISO SMPDB SMP:00186 NCBI chr12:45,256,806...45,270,755
Ensembl chr12:45,257,188...45,322,767
JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO SMPDB SMP:00186 NCBI chr 2:142,943,565...142,947,313
Ensembl chr 2:142,944,078...142,944,980
JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO SMPDB SMP:00186 NCBI chr17:5,191,973...5,271,849
Ensembl chr17:5,122,265...5,271,849
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 7:55,351,081...55,373,856
Ensembl chr 7:55,351,083...55,373,881
JBrowse link
G CASP7 caspase 7 ISO SMPDB SMP:00143 SMP:00337 NCBI chr14:124,017,776...124,050,369
Ensembl chr14:124,018,568...124,050,366
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00143 SMP:00337 NCBI chr 7:27,209,565...27,253,535
Ensembl chr 7:27,209,564...27,253,535
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00143 SMP:00337 NCBI chr 4:123,371,198...123,390,130
Ensembl chr 4:123,371,193...123,390,135
JBrowse link
G GGCT gamma-glutamylcyclotransferase ISO SMPDB SMP:00143 SMP:00337 NCBI chr18:42,410,734...42,418,534 JBrowse link
G GGT6 gamma-glutamyltransferase 6 ISO SMPDB SMP:00143 SMP:00337 NCBI chr12:50,507,501...50,514,578
Ensembl chr12:50,506,167...50,510,932
JBrowse link
G GPX1 glutathione peroxidase 1 ISO SMPDB SMP:00143 SMP:00337 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,914,932...31,917,335
JBrowse link
G GSR glutathione-disulfide reductase ISO SMPDB SMP:00143 SMP:00337 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,989
JBrowse link
G GSS glutathione synthetase ISO SMPDB SMP:00143 SMP:00337 NCBI chr17:38,316,199...38,342,253
Ensembl chr17:38,312,720...38,342,304
JBrowse link
G LOC100152209 glutathione S-transferase omega-2 ISO SMPDB SMP:00143 SMP:00337 NCBI chr14:115,218,179...115,242,377
Ensembl chr14:115,217,879...115,251,467
JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing ISO SMPDB SMP:00143 SMP:00337 NCBI chr 4:629,901...639,420
Ensembl chr 4:629,870...639,406
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 7:55,351,081...55,373,856
Ensembl chr 7:55,351,083...55,373,881
JBrowse link
G CASP7 caspase 7 ISO SMPDB SMP:00501 NCBI chr14:124,017,776...124,050,369
Ensembl chr14:124,018,568...124,050,366
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00501 NCBI chr 7:27,209,565...27,253,535
Ensembl chr 7:27,209,564...27,253,535
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00501 NCBI chr 4:123,371,198...123,390,130
Ensembl chr 4:123,371,193...123,390,135
JBrowse link
G GGCT gamma-glutamylcyclotransferase ISO SMPDB SMP:00501 NCBI chr18:42,410,734...42,418,534 JBrowse link
G GGT6 gamma-glutamyltransferase 6 ISO SMPDB SMP:00501 NCBI chr12:50,507,501...50,514,578
Ensembl chr12:50,506,167...50,510,932
JBrowse link
G GPX1 glutathione peroxidase 1 ISO SMPDB SMP:00501 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,914,932...31,917,335
JBrowse link
G GSR glutathione-disulfide reductase ISO SMPDB SMP:00501 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,989
JBrowse link
G GSS glutathione synthetase ISO SMPDB SMP:00501 NCBI chr17:38,316,199...38,342,253
Ensembl chr17:38,312,720...38,342,304
JBrowse link
G LOC100152209 glutathione S-transferase omega-2 ISO SMPDB SMP:00501 NCBI chr14:115,218,179...115,242,377
Ensembl chr14:115,217,879...115,251,467
JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing ISO SMPDB SMP:00501 NCBI chr 4:629,901...639,420
Ensembl chr 4:629,870...639,406
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 chr17:37,726,084...37,744,378
Ensembl chr17:37,726,077...37,744,461
JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00222 NCBI chr 1:76,839,448...76,863,745
Ensembl chr 1:76,839,731...76,863,738
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00222 NCBI chr 2:87,911,093...87,935,252
Ensembl chr 2:87,866,607...87,935,253
JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00222 NCBI chr13:206,205,942...206,231,363 JBrowse link
G CHDH choline dehydrogenase ISO SMPDB SMP:00222 NCBI chr13:35,910,688...35,950,438
Ensembl chr13:35,910,696...35,948,259
JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00222 NCBI chr 6:142,454,922...142,486,352
Ensembl chr 6:142,435,690...142,486,367
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO SMPDB SMP:00222 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,564...69,029,919
JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00222 NCBI chr 6:54,906,401...54,945,840
Ensembl chr 6:54,906,401...54,946,202
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00222 NCBI chr 5:22,752,405...22,785,509
Ensembl chr 5:22,751,921...22,785,928
JBrowse link
G MAT2A methionine adenosyltransferase 2A ISO SMPDB SMP:00222 NCBI chr 3:59,220,203...59,225,097
Ensembl chr 3:59,211,157...59,225,261
JBrowse link
G MAT2B methionine adenosyltransferase 2B ISO SMPDB SMP:00222 NCBI chr16:60,255,541...60,274,228
Ensembl chr16:60,255,357...60,274,085
JBrowse link
G MSRB2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00222 NCBI chr10:51,888,828...51,910,725
Ensembl chr10:51,888,817...51,910,392
JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00222 NCBI chr 5:29,695,824...29,863,601
Ensembl chr 5:29,695,839...29,863,599
JBrowse link
G MTAP methylthioadenosine phosphorylase ISO SMPDB SMP:00222 NCBI chr 1:200,882,954...200,934,389
Ensembl chr 1:200,882,955...200,934,639
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00222 NCBI chr 1:106,970,620...107,001,563
Ensembl chr 1:106,970,640...107,001,564
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO SMPDB SMP:00222 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00222 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,981...54,652,759
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00222 NCBI chr12:60,414,421...60,435,451
Ensembl chr12:60,414,446...60,435,450
JBrowse link
G SRM spermidine synthase ISO SMPDB SMP:00222 NCBI chr 6:71,246,895...71,253,534
Ensembl chr 6:71,244,143...71,253,508
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 chr12:59,895,476...59,905,900
Ensembl chr12:59,897,496...59,905,967
JBrowse link
G AOC1 amine oxidase copper containing 1 ISO SMPDB SMP:00190 NCBI chr18:6,309,583...6,321,016
Ensembl chr18:6,306,835...6,320,974
JBrowse link
G COMT catechol-O-methyltransferase ISO SMPDB SMP:00190 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,133...51,403,998
JBrowse link
G DBH dopamine beta-hydroxylase ISO SMPDB SMP:00190 NCBI chr 1:273,204,407...273,225,562
Ensembl chr 1:273,204,400...273,225,558
JBrowse link
G DCT dopachrome tautomerase ISO SMPDB SMP:00190 NCBI chr11:63,584,865...63,647,486
Ensembl chr11:63,584,866...63,678,314
JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00190 NCBI chr 9:136,496,364...136,571,220
Ensembl chr 9:136,495,891...136,571,197
JBrowse link
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00190 NCBI chr 7:49,047,833...49,087,790
Ensembl chr 7:49,047,983...49,105,598
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00190 NCBI chr14:110,608,422...110,635,825
Ensembl chr14:110,608,430...110,635,874
JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00190 NCBI chr 7:100,392,217...100,404,025
Ensembl chr 7:100,392,271...100,408,423
JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00190 NCBI chr 3:97,580,756...97,595,033
Ensembl chr 3:97,580,851...97,595,021
JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00190 NCBI chr13:139,660,315...139,710,402
Ensembl chr13:139,660,343...139,710,405
JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00190 NCBI chr14:30,845,608...30,857,658
Ensembl chr14:30,845,613...30,857,667
JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00190 NCBI chr  X:38,930,452...39,006,220 JBrowse link
G MIF macrophage migration inhibitory factor ISO SMPDB SMP:00190 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,862,317
JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00190 NCBI chr12:22,648,396...22,651,520
Ensembl chr12:22,648,397...22,650,002
JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00190 NCBI chr 6:14,571,311...14,583,203
Ensembl chr 6:14,570,587...14,583,177
JBrowse link
G TYR tyrosinase ISO SMPDB SMP:00190 NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290
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 chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00191 NCBI chr12:59,895,476...59,905,900
Ensembl chr12:59,897,496...59,905,967
JBrowse link
G AMDHD1 amidohydrolase domain containing 1 ISO SMPDB SMP:00191 NCBI chr 5:87,551,887...87,569,271
Ensembl chr 5:87,553,022...87,569,305
JBrowse link
G AOC1 amine oxidase copper containing 1 ISO SMPDB SMP:00191 NCBI chr18:6,309,583...6,321,016
Ensembl chr18:6,306,835...6,320,974
JBrowse link
G CARNMT1 carnosine N-methyltransferase 1 ISO SMPDB SMP:00191 NCBI chr 1:228,054,910...228,092,258
Ensembl chr 1:228,054,920...228,092,358
JBrowse link
G CARNS1 carnosine synthase 1 ISO SMPDB SMP:00191 NCBI chr 2:5,097,238...5,105,697
Ensembl chr 2:5,097,238...5,112,282
JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO SMPDB SMP:00191 NCBI chr 1:149,523,983...149,564,728
Ensembl chr 1:149,521,510...149,562,528
JBrowse link
G CNDP2 carnosine dipeptidase 2 ISO SMPDB SMP:00191 NCBI chr 1:149,565,327...149,584,319
Ensembl chr 1:149,565,339...149,584,292
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO SMPDB SMP:00191
G HAL histidine ammonia-lyase ISO SMPDB SMP:00191 NCBI chr 5:87,522,483...87,547,489
Ensembl chr 5:87,522,522...87,547,491
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO SMPDB SMP:00191 NCBI chr 2:142,387,563...142,401,232
Ensembl chr 2:142,370,184...142,401,209
JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00191 NCBI chr 2:142,401,279...142,410,253
Ensembl chr 2:142,401,293...142,419,358
JBrowse link
G HDC histidine decarboxylase ISO SMPDB SMP:00191 NCBI chr 1:121,505,677...121,525,416
Ensembl chr 1:121,505,742...121,525,255
JBrowse link
G HNMT histamine N-methyltransferase ISO SMPDB SMP:00191 NCBI chr15:13,733,412...13,768,106
Ensembl chr15:13,732,680...13,768,199
JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00191 NCBI chr  X:38,930,452...39,006,220 JBrowse link
G PRMT3 protein arginine methyltransferase 3 ISO SMPDB SMP:00191 NCBI chr 2:38,884,311...39,032,944
Ensembl chr 2:38,884,361...39,032,916
JBrowse link
G UROC1 urocanate hydratase 1 ISO SMPDB SMP:00191 NCBI chr 7:53,592,763...53,634,214
Ensembl chr 7:53,590,776...53,637,714
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 chr13:2,840,425...2,902,619
Ensembl chr13:2,840,456...2,903,680
JBrowse link
G HLCS holocarboxylase synthetase ISO SMPDB SMP:00564 NCBI chr13:200,406,395...200,618,967
Ensembl chr13:200,407,540...200,608,129
JBrowse link
G SPCS1 signal peptidase complex subunit 1 ISO SMPDB SMP:00564 NCBI chr13:34,839,921...34,841,605
Ensembl chr13:34,839,383...34,841,605
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 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00385 NCBI chr 6:77,373,999...77,404,015
Ensembl chr 6:77,373,999...77,393,651
JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 ISO SMPDB SMP:00385 NCBI chr 7:19,351,485...19,375,515
Ensembl chr 7:19,351,361...19,379,100
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00385 NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,495
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00385 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,209,999...113,339,078
JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00385 NCBI chr 3:22,654,351...22,684,246
Ensembl chr 3:22,655,377...22,685,480
JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00385 NCBI chr15:76,991,863...77,034,819
Ensembl chr15:76,991,928...77,034,817
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00385 NCBI chr 7:27,209,565...27,253,535
Ensembl chr 7:27,209,564...27,253,535
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00385 NCBI chr 4:123,371,198...123,390,130
Ensembl chr 4:123,371,193...123,390,135
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00385 NCBI chr 3:73,028,750...73,086,191
Ensembl chr 3:72,983,188...73,085,319
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00385 NCBI chr 5:21,806,405...21,820,001
Ensembl chr 5:21,806,406...21,820,001
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00385 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G GLUL glutamate-ammonia ligase ISO SMPDB SMP:00385 NCBI chr 9:123,751,551...123,762,575
Ensembl chr 9:123,751,548...123,762,547
JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00385 NCBI chr13:95,742,342...95,820,903
Ensembl chr13:95,742,383...95,819,762
JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00385 NCBI chr 1:182,404,460...182,423,453
Ensembl chr 1:182,407,215...182,423,443
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00385 NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,198...20,432,068
JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00385 NCBI chr 4:297,747...302,498
Ensembl chr 4:297,748...320,056
JBrowse link
G GSR glutathione-disulfide reductase ISO SMPDB SMP:00385 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,989
JBrowse link
G GSS glutathione synthetase ISO SMPDB SMP:00385 NCBI chr17:38,316,199...38,342,253
Ensembl chr17:38,312,720...38,342,304
JBrowse link
G NADSYN1 NAD synthetase 1 ISO SMPDB SMP:00385 NCBI chr 2:2,334,793...2,372,356
Ensembl chr 2:2,334,793...2,372,355
JBrowse link
G NAGK N-acetylglucosamine kinase ISO SMPDB SMP:00385 NCBI chr 3:71,496,191...71,513,020
Ensembl chr 3:71,500,337...71,512,998
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00385 NCBI chr 8:55,652,194...55,701,077
Ensembl chr 8:55,652,201...55,701,077
JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00385 NCBI chr13:31,715,686...31,723,200
Ensembl chr13:31,715,687...31,723,197
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 chr17:37,726,084...37,744,378
Ensembl chr17:37,726,077...37,744,461
JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00177 NCBI chr 1:76,839,448...76,863,745
Ensembl chr 1:76,839,731...76,863,738
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00177 NCBI chr 2:87,911,093...87,935,252
Ensembl chr 2:87,866,607...87,935,253
JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00177 SMP:00515 NCBI chr13:206,205,942...206,231,363 JBrowse link
G CHDH choline dehydrogenase ISO SMPDB SMP:00177 NCBI chr13:35,910,688...35,950,438
Ensembl chr13:35,910,696...35,948,259
JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00177 SMP:00515 NCBI chr 6:142,454,922...142,486,352
Ensembl chr 6:142,435,690...142,486,367
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO SMPDB SMP:00177 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,564...69,029,919
JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00177 NCBI chr 6:54,906,401...54,945,840
Ensembl chr 6:54,906,401...54,946,202
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00177 NCBI chr 5:22,752,405...22,785,509
Ensembl chr 5:22,751,921...22,785,928
JBrowse link
G MAT2A methionine adenosyltransferase 2A ISO SMPDB SMP:00177 NCBI chr 3:59,220,203...59,225,097
Ensembl chr 3:59,211,157...59,225,261
JBrowse link
G MAT2B methionine adenosyltransferase 2B ISO SMPDB SMP:00177 NCBI chr16:60,255,541...60,274,228
Ensembl chr16:60,255,357...60,274,085
JBrowse link
G MSRB2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00177 NCBI chr10:51,888,828...51,910,725
Ensembl chr10:51,888,817...51,910,392
JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00177 NCBI chr 5:29,695,824...29,863,601
Ensembl chr 5:29,695,839...29,863,599
JBrowse link
G MTAP methylthioadenosine phosphorylase ISO SMPDB SMP:00177 NCBI chr 1:200,882,954...200,934,389
Ensembl chr 1:200,882,955...200,934,639
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00177 NCBI chr 1:106,970,620...107,001,563
Ensembl chr 1:106,970,640...107,001,564
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO SMPDB SMP:00177 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00177 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,981...54,652,759
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00177 NCBI chr12:60,414,421...60,435,451
Ensembl chr12:60,414,446...60,435,450
JBrowse link
G SRM spermidine synthase ISO SMPDB SMP:00177 NCBI chr 6:71,246,895...71,253,534
Ensembl chr 6:71,244,143...71,253,508
JBrowse link
hyperargininemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00357 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,038...32,028,986
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00357 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,869
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00357 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,361
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00357 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,209,999...113,339,078
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00357 NCBI chr 5:21,806,405...21,820,001
Ensembl chr 5:21,806,406...21,820,001
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00357 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00357 NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,198...20,432,068
JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00357 NCBI chr 4:297,747...302,498
Ensembl chr 4:297,748...320,056
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00357 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,837
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00357 NCBI chr 3:76,938,102...76,970,519
Ensembl chr 3:76,938,105...76,970,508
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00357 NCBI chr 6:52,647,432...52,661,464
Ensembl chr 6:52,647,432...52,661,459
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00357 NCBI chr15:77,895,935...78,021,930
Ensembl chr15:77,895,935...78,098,383
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00357 NCBI chr11:15,494,176...15,551,172
Ensembl chr11:15,494,385...15,559,312
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 chr14:19,768,816...19,792,254
Ensembl chr14:19,768,499...19,791,938
JBrowse link
G AASS aminoadipate-semialdehyde synthase ISO SMPDB SMP:00527 NCBI chr18:24,938,366...25,039,197
Ensembl chr18:24,974,816...25,039,196
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00527 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00527 NCBI chr 2:129,663,226...129,709,728
Ensembl chr 2:129,662,296...129,713,729
JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00527 NCBI chr10:59,820,418...59,875,322
Ensembl chr10:59,790,073...59,875,245
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00527 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00527 NCBI chr 7:98,091,161...98,111,267
Ensembl chr 7:98,091,123...98,111,572
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00527 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chr 8:113,952,561...114,005,510
Ensembl chr 8:113,950,033...114,005,512
JBrowse link
G LOC110255229 peroxisomal sarcosine oxidase ISO SMPDB SMP:00527 NCBI chr12:45,256,806...45,270,755
Ensembl chr12:45,257,188...45,322,767
JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO SMPDB SMP:00527 NCBI chr 2:142,943,565...142,947,313
Ensembl chr 2:142,944,078...142,944,980
JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO SMPDB SMP:00527 NCBI chr17:5,191,973...5,271,849
Ensembl chr17:5,122,265...5,271,849
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 chr17:37,726,084...37,744,378
Ensembl chr17:37,726,077...37,744,461
JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00341 NCBI chr 1:76,839,448...76,863,745
Ensembl chr 1:76,839,731...76,863,738
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00341 NCBI chr 2:87,911,093...87,935,252
Ensembl chr 2:87,866,607...87,935,253
JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00341 NCBI chr13:206,205,942...206,231,363 JBrowse link
G CHDH choline dehydrogenase ISO SMPDB SMP:00341 NCBI chr13:35,910,688...35,950,438
Ensembl chr13:35,910,696...35,948,259
JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00341 NCBI chr 6:142,454,922...142,486,352
Ensembl chr 6:142,435,690...142,486,367
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO SMPDB SMP:00341 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,564...69,029,919
JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00341 NCBI chr 6:54,906,401...54,945,840
Ensembl chr 6:54,906,401...54,946,202
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00341 NCBI chr 5:22,752,405...22,785,509
Ensembl chr 5:22,751,921...22,785,928
JBrowse link
G MAT2A methionine adenosyltransferase 2A ISO SMPDB SMP:00341 NCBI chr 3:59,220,203...59,225,097
Ensembl chr 3:59,211,157...59,225,261
JBrowse link
G MAT2B methionine adenosyltransferase 2B ISO SMPDB SMP:00341 NCBI chr16:60,255,541...60,274,228
Ensembl chr16:60,255,357...60,274,085
JBrowse link
G MSRB2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00341 NCBI chr10:51,888,828...51,910,725
Ensembl chr10:51,888,817...51,910,392
JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00341 NCBI chr 5:29,695,824...29,863,601
Ensembl chr 5:29,695,839...29,863,599
JBrowse link
G MTAP methylthioadenosine phosphorylase ISO SMPDB SMP:00341 NCBI chr 1:200,882,954...200,934,389
Ensembl chr 1:200,882,955...200,934,639
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00341 NCBI chr 1:106,970,620...107,001,563
Ensembl chr 1:106,970,640...107,001,564
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO SMPDB SMP:00341 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00341 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,981...54,652,759
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00341 NCBI chr12:60,414,421...60,435,451
Ensembl chr12:60,414,446...60,435,450
JBrowse link
G SRM spermidine synthase ISO SMPDB SMP:00341 NCBI chr 6:71,246,895...71,253,534
Ensembl chr 6:71,244,143...71,253,508
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 6:77,373,999...77,404,015
Ensembl chr 6:77,373,999...77,393,651
JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00361 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,038...32,028,986
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00361 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,869
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00361 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,361
JBrowse link
G CKB creatine kinase B ISO SMPDB SMP:00361
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00361 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,209,999...113,339,078
JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00361 NCBI chr14:41,931,549...41,950,628
Ensembl chr14:41,929,215...41,950,633
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00361 NCBI chr10:9,579,301...9,648,416
Ensembl chr10:9,579,301...9,648,414
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00361 NCBI chr 2:77,076,566...77,079,751
Ensembl chr 2:77,076,566...77,079,766
JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00361 NCBI chr 1:126,361,968...126,378,705
Ensembl chr 1:126,361,945...126,380,872
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00361 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00361 NCBI chr14:110,608,422...110,635,825
Ensembl chr14:110,608,430...110,635,874
JBrowse link
G LOC110256626 proline dehydrogenase 1, mitochondrial ISO SMPDB SMP:00361 NCBI chr14:51,624,919...51,644,467 JBrowse link
G NOS1 nitric oxide synthase 1 ISO SMPDB SMP:00361 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,972
JBrowse link
G OAT ornithine aminotransferase ISO SMPDB SMP:00361 NCBI chr14:133,808,193...133,830,517 JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00361 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,837
JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00361 NCBI chr 9:8,627,365...8,681,804
Ensembl chr 9:8,627,412...8,667,774
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00361 NCBI chr10:13,841,755...13,845,900 JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00361 NCBI chr 1:55,906,508...55,982,094
Ensembl chr 1:55,893,480...55,982,068
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00361 NCBI chr11:15,494,176...15,551,172
Ensembl chr11:15,494,385...15,559,312
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 6:77,373,999...77,404,015
Ensembl chr 6:77,373,999...77,393,651
JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00360 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,038...32,028,986
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00360 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,869
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00360 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,361
JBrowse link
G CKB creatine kinase B ISO SMPDB SMP:00360
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00360 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,209,999...113,339,078
JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00360 NCBI chr14:41,931,549...41,950,628
Ensembl chr14:41,929,215...41,950,633
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00360 NCBI chr10:9,579,301...9,648,416
Ensembl chr10:9,579,301...9,648,414
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00360 NCBI chr 2:77,076,566...77,079,751
Ensembl chr 2:77,076,566...77,079,766
JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00360 NCBI chr 1:126,361,968...126,378,705
Ensembl chr 1:126,361,945...126,380,872
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00360 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00360 NCBI chr14:110,608,422...110,635,825
Ensembl chr14:110,608,430...110,635,874
JBrowse link
G LOC110256626 proline dehydrogenase 1, mitochondrial ISO SMPDB SMP:00360 NCBI chr14:51,624,919...51,644,467 JBrowse link
G NOS1 nitric oxide synthase 1 ISO SMPDB SMP:00360 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,972
JBrowse link
G OAT ornithine aminotransferase ISO SMPDB SMP:00360 NCBI chr14:133,808,193...133,830,517 JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00360 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,837
JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00360 NCBI chr 9:8,627,365...8,681,804
Ensembl chr 9:8,627,412...8,667,774
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00360 NCBI chr10:13,841,755...13,845,900 JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00360 NCBI chr 1:55,906,508...55,982,094
Ensembl chr 1:55,893,480...55,982,068
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00360 NCBI chr11:15,494,176...15,551,172
Ensembl chr11:15,494,385...15,559,312
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 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00523 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00523 NCBI chr 9:60,807,405...60,828,379 JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00523 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00523 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00523 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00523 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00523 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00523 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,357,952...97,381,841
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00523 NCBI chr15:104,157,748...104,234,533
Ensembl chr15:104,153,702...104,238,400
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00523 NCBI chr14:2,398,456...2,546,329
Ensembl chr14:2,398,462...2,546,320
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00523 NCBI chr 5:48,814,212...48,925,632
Ensembl chr 5:48,814,300...48,925,976
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00523 NCBI chr 6:49,381,995...49,398,745 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00523 NCBI chr 1:85,755,819...86,017,661
Ensembl chr 1:85,715,203...86,017,600
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00523 NCBI chr 4:117,884,657...117,924,006
Ensembl chr 4:117,875,002...117,937,561
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00523 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00523 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00523 NCBI chr18:44,985,410...45,102,171
Ensembl chr18:44,985,425...45,208,347
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00523 NCBI chr15:94,795,744...94,941,362
Ensembl chr15:94,785,453...94,941,381
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00523 NCBI chr 6:81,611,516...81,630,454
Ensembl chr 6:81,611,422...81,630,530
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00523 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,545...46,220,944
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00523 NCBI chr 1:130,896,488...130,910,582
Ensembl chr 1:130,893,983...130,940,350
JBrowse link
G LOC110260333 hydroxymethylglutaryl-CoA synthase, mitochondrial-like ISO SMPDB SMP:00523 NCBI chr 4:101,385,486...101,404,273
Ensembl chr 4:101,385,512...101,443,405
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00523 NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,912,828...121,106,666
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00523 NCBI chr16:47,917,308...47,996,540
Ensembl chr16:47,917,291...47,996,540
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00523 NCBI chr 1:143,993,714...144,022,372
Ensembl chr 1:143,993,731...144,024,879
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00523 NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,292...43,624,609
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00523 NCBI chr16:26,514,497...26,659,739
Ensembl chr16:26,512,396...26,659,845
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00523 NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,301,533
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00523 NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,317,497
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 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 9:60,807,405...60,828,379 JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00238 SMP:00524 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,357,952...97,381,841
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr15:104,157,748...104,234,533
Ensembl chr15:104,153,702...104,238,400
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00238 SMP:00524 NCBI chr14:2,398,456...2,546,329
Ensembl chr14:2,398,462...2,546,320
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 5:48,814,212...48,925,632
Ensembl chr 5:48,814,300...48,925,976
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00238 SMP:00524 NCBI chr 6:49,381,995...49,398,745 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:85,755,819...86,017,661
Ensembl chr 1:85,715,203...86,017,600
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 4:117,884,657...117,924,006
Ensembl chr 4:117,875,002...117,937,561
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr18:44,985,410...45,102,171
Ensembl chr18:44,985,425...45,208,347
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00238 SMP:00524 NCBI chr15:94,795,744...94,941,362
Ensembl chr15:94,785,453...94,941,381
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 6:81,611,516...81,630,454
Ensembl chr 6:81,611,422...81,630,530
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00238 SMP:00524 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,545...46,220,944
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:130,896,488...130,910,582
Ensembl chr 1:130,893,983...130,940,350
JBrowse link
G LOC110260333 hydroxymethylglutaryl-CoA synthase, mitochondrial-like ISO SMPDB SMP:00238 SMP:00524 NCBI chr 4:101,385,486...101,404,273
Ensembl chr 4:101,385,512...101,443,405
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,912,828...121,106,666
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr16:47,917,308...47,996,540
Ensembl chr16:47,917,291...47,996,540
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:143,993,714...144,022,372
Ensembl chr 1:143,993,731...144,024,879
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,292...43,624,609
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr16:26,514,497...26,659,739
Ensembl chr16:26,512,396...26,659,845
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00238 SMP:00524 NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,301,533
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00238 SMP:00524 NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,317,497
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 chr18:42,063,482...42,076,741
Ensembl chr18:42,063,481...42,076,746
JBrowse link
G AQP2 aquaporin 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 5:15,862,739...15,868,565
Ensembl chr 5:15,863,303...15,868,565
JBrowse link
G AQP3 aquaporin 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr10:33,045,374...33,050,285
Ensembl chr10:33,045,245...33,051,086
JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 4:104,353,506...104,384,321
Ensembl chr 4:104,353,506...104,384,606
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,291,344...90,396,160
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 6:49,905,851...49,927,437 JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 4:81,912,543...81,937,015
Ensembl chr 4:81,911,558...81,997,714
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr12:52,925,697...52,932,638
Ensembl chr12:52,925,693...52,932,637
JBrowse link
G ATP1B3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr13:82,680,442...82,727,052 JBrowse link
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chr  X:98,514,286...98,535,154
Ensembl chr  X:98,514,305...98,535,152
JBrowse link
G CLCNKA chloride channel protein ClC-Ka ISO SMPDB SMP:00197 SMP:00585 NCBI chr 6:75,178,914...75,192,670 JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 9:45,165,314...45,172,440 JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 8:80,303,172...80,669,050
Ensembl chr 8:80,290,715...80,669,404
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00197 SMP:00585 NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612
JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00197 SMP:00585 NCBI chr 3:22,832,259...22,902,592
Ensembl chr 3:22,832,262...22,902,063
JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO SMPDB SMP:00197 SMP:00585 NCBI chr 6:63,568,171...63,578,623 JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00197 SMP:00585 NCBI chr 3:22,977,940...23,013,384
Ensembl chr 3:22,977,947...23,013,384
JBrowse link
G SLC12A1 solute carrier family 12 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:123,481,892...123,571,655
Ensembl chr 1:123,481,369...123,571,630
JBrowse link
G SLC12A3 solute carrier family 12 member 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 6:18,844,752...18,885,497
Ensembl chr 6:18,844,773...18,885,477
JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 7:80,164,788...80,266,335
Ensembl chr 7:80,161,495...80,268,323
JBrowse link
G SLC14A2 solute carrier family 14 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:94,838,955...95,322,748
Ensembl chr 1:95,255,632...95,320,607
JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:217,366,493...217,441,643
Ensembl chr 1:217,366,499...217,441,674
JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:7,289,278...7,323,418
Ensembl chr 1:7,289,831...7,323,146
JBrowse link
G SLC22A6 solute carrier family 22 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 2:8,809,547...8,817,124
Ensembl chr 2:8,802,349...8,817,338
JBrowse link
G SLC38A4 solute carrier family 38 member 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 5:77,411,610...77,489,542
Ensembl chr 5:77,411,610...77,489,326
JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 3:96,157,387...96,201,057
Ensembl chr 3:96,157,380...96,215,454
JBrowse link
G SLC3A2 solute carrier family 3 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 2:8,892,071...8,919,070
Ensembl chr 2:8,892,089...8,919,072
JBrowse link
G SLC6A20 solute carrier family 6 member 20 ISO SMPDB SMP:00197 SMP:00585 NCBI chr13:28,897,831...28,945,191
Ensembl chr13:28,899,797...28,945,072
JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,940...1,574,288
JBrowse link
G SLC7A6 solute carrier family 7 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 6:28,834,797...28,876,154 JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 7:76,195,774...76,235,406
Ensembl chr 7:76,144,113...76,236,873
JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 7:75,854,700...75,921,931
Ensembl chr 7:75,854,882...75,921,931
JBrowse link
G SLC7A9 solute carrier family 7 member 9 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 6:42,664,795...42,706,113
Ensembl chr 6:42,664,929...42,714,267
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 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00199 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00199 NCBI chr 9:60,807,405...60,828,379 JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00199 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00199 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00199 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00199 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00199 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00199 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,357,952...97,381,841
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00199 NCBI chr15:104,157,748...104,234,533
Ensembl chr15:104,153,702...104,238,400
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00199 NCBI chr14:2,398,456...2,546,329
Ensembl chr14:2,398,462...2,546,320
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00199 NCBI chr 5:48,814,212...48,925,632
Ensembl chr 5:48,814,300...48,925,976
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00199 NCBI chr 6:49,381,995...49,398,745 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00199 NCBI chr 1:85,755,819...86,017,661
Ensembl chr 1:85,715,203...86,017,600
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00199 NCBI chr 4:117,884,657...117,924,006
Ensembl chr 4:117,875,002...117,937,561
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00199 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00199 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00199 NCBI chr18:44,985,410...45,102,171
Ensembl chr18:44,985,425...45,208,347
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00199 NCBI chr15:94,795,744...94,941,362
Ensembl chr15:94,785,453...94,941,381
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00199 NCBI chr 6:81,611,516...81,630,454
Ensembl chr 6:81,611,422...81,630,530
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00199 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,545...46,220,944
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00199 NCBI chr 1:130,896,488...130,910,582
Ensembl chr 1:130,893,983...130,940,350
JBrowse link
G LOC110260333 hydroxymethylglutaryl-CoA synthase, mitochondrial-like ISO SMPDB SMP:00199 NCBI chr 4:101,385,486...101,404,273
Ensembl chr 4:101,385,512...101,443,405
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00199 NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,912,828...121,106,666
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00199 NCBI chr16:47,917,308...47,996,540
Ensembl chr16:47,917,291...47,996,540
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00199 NCBI chr 1:143,993,714...144,022,372
Ensembl chr 1:143,993,731...144,024,879
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00199 NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,292...43,624,609
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00199 NCBI chr16:26,514,497...26,659,739
Ensembl chr16:26,512,396...26,659,845
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00199 NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,301,533
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00199 NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,317,497
JBrowse link
mercaptolactate-cysteine disulfiduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARS1 cysteinyl-tRNA synthetase 1 ISO SMPDB SMP:00499 NCBI chr 2:2,119,576...2,163,378
Ensembl chr 2:2,119,592...2,163,343
JBrowse link
G CDO1 cysteine dioxygenase type 1 ISO SMPDB SMP:00499 NCBI chr 2:119,927,768...119,940,690
Ensembl chr 2:119,892,691...119,940,665
JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00499 NCBI chr 6:142,454,922...142,486,352
Ensembl chr 6:142,435,690...142,486,367
JBrowse link
G CTNS cystinosin, lysosomal cystine transporter ISO SMPDB SMP:00499 NCBI chr12:49,730,741...49,754,362
Ensembl chr12:49,730,955...49,753,208
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00499 NCBI chr 7:27,209,565...27,253,535
Ensembl chr 7:27,209,564...27,253,535
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00499 NCBI chr 4:123,371,198...123,390,130
Ensembl chr 4:123,371,193...123,390,135
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00499 NCBI chr14:110,608,422...110,635,825
Ensembl chr14:110,608,430...110,635,874
JBrowse link
G MPST mercaptopyruvate sulfurtransferase ISO SMPDB SMP:00499 NCBI chr 5:10,739,179...10,749,826
Ensembl chr 5:10,739,195...10,749,731
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 chr17:37,726,084...37,744,378
Ensembl chr17:37,726,077...37,744,461
JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00340 NCBI chr 1:76,839,448...76,863,745
Ensembl chr 1:76,839,731...76,863,738
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00340 NCBI chr 2:87,911,093...87,935,252
Ensembl chr 2:87,866,607...87,935,253
JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00340 NCBI chr13:206,205,942...206,231,363 JBrowse link
G CHDH choline dehydrogenase ISO SMPDB SMP:00340 NCBI chr13:35,910,688...35,950,438
Ensembl chr13:35,910,696...35,948,259
JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00340 NCBI chr 6:142,454,922...142,486,352
Ensembl chr 6:142,435,690...142,486,367
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO SMPDB SMP:00340 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,564...69,029,919
JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00340 NCBI chr 6:54,906,401...54,945,840
Ensembl chr 6:54,906,401...54,946,202
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00340 NCBI chr 5:22,752,405...22,785,509
Ensembl chr 5:22,751,921...22,785,928
JBrowse link
G MAT2A methionine adenosyltransferase 2A ISO SMPDB SMP:00340 NCBI chr 3:59,220,203...59,225,097
Ensembl chr 3:59,211,157...59,225,261
JBrowse link
G MAT2B methionine adenosyltransferase 2B ISO SMPDB SMP:00340 NCBI chr16:60,255,541...60,274,228
Ensembl chr16:60,255,357...60,274,085
JBrowse link
G MSRB2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00340 NCBI chr10:51,888,828...51,910,725
Ensembl chr10:51,888,817...51,910,392
JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00340 NCBI chr 5:29,695,824...29,863,601
Ensembl chr 5:29,695,839...29,863,599
JBrowse link
G MTAP methylthioadenosine phosphorylase ISO SMPDB SMP:00340 NCBI chr 1:200,882,954...200,934,389
Ensembl chr 1:200,882,955...200,934,639
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00340 NCBI chr 1:106,970,620...107,001,563
Ensembl chr 1:106,970,640...107,001,564
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO SMPDB SMP:00340 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00340 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,981...54,652,759
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00340 NCBI chr12:60,414,421...60,435,451
Ensembl chr12:60,414,446...60,435,450
JBrowse link
G SRM spermidine synthase ISO SMPDB SMP:00340 NCBI chr 6:71,246,895...71,253,534
Ensembl chr 6:71,244,143...71,253,508
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 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00384 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00384 NCBI chr 9:60,807,405...60,828,379 JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00384 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00384 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00384 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00384 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00384 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00384 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,357,952...97,381,841
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00384 NCBI chr15:104,157,748...104,234,533
Ensembl chr15:104,153,702...104,238,400
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00384 NCBI chr14:2,398,456...2,546,329
Ensembl chr14:2,398,462...2,546,320
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00384 NCBI chr 5:48,814,212...48,925,632
Ensembl chr 5:48,814,300...48,925,976
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00384 NCBI chr 6:49,381,995...49,398,745 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00384 NCBI chr 1:85,755,819...86,017,661
Ensembl chr 1:85,715,203...86,017,600
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00384 NCBI chr 4:117,884,657...117,924,006
Ensembl chr 4:117,875,002...117,937,561
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00384 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00384 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00384 NCBI chr18:44,985,410...45,102,171
Ensembl chr18:44,985,425...45,208,347
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00384 NCBI chr15:94,795,744...94,941,362
Ensembl chr15:94,785,453...94,941,381
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00384 NCBI chr 6:81,611,516...81,630,454
Ensembl chr 6:81,611,422...81,630,530
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00384 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,545...46,220,944
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00384 NCBI chr 1:130,896,488...130,910,582
Ensembl chr 1:130,893,983...130,940,350
JBrowse link
G LOC110260333 hydroxymethylglutaryl-CoA synthase, mitochondrial-like ISO SMPDB SMP:00384 NCBI chr 4:101,385,486...101,404,273
Ensembl chr 4:101,385,512...101,443,405
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00384 NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,912,828...121,106,666
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00384 NCBI chr16:47,917,308...47,996,540
Ensembl chr16:47,917,291...47,996,540
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00384 NCBI chr 1:143,993,714...144,022,372
Ensembl chr 1:143,993,731...144,024,879
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00384 NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,292...43,624,609
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00384 NCBI chr16:26,514,497...26,659,739
Ensembl chr16:26,512,396...26,659,845
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00384 NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,301,533
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00384 NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,317,497
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 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00200 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00200 NCBI chr 9:60,807,405...60,828,379 JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00200 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00200 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00200 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00200 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00200 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00200 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,357,952...97,381,841
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00200 NCBI chr15:104,157,748...104,234,533
Ensembl chr15:104,153,702...104,238,400
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00200 NCBI chr14:2,398,456...2,546,329
Ensembl chr14:2,398,462...2,546,320
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00200 NCBI chr 5:48,814,212...48,925,632
Ensembl chr 5:48,814,300...48,925,976
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00200 NCBI chr 6:49,381,995...49,398,745 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00200 NCBI chr 1:85,755,819...86,017,661
Ensembl chr 1:85,715,203...86,017,600
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00200 NCBI chr 4:117,884,657...117,924,006
Ensembl chr 4:117,875,002...117,937,561
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00200 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00200 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00200 NCBI chr18:44,985,410...45,102,171
Ensembl chr18:44,985,425...45,208,347
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00200 NCBI chr15:94,795,744...94,941,362
Ensembl chr15:94,785,453...94,941,381
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00200 NCBI chr 6:81,611,516...81,630,454
Ensembl chr 6:81,611,422...81,630,530
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00200 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,545...46,220,944
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00200 NCBI chr 1:130,896,488...130,910,582
Ensembl chr 1:130,893,983...130,940,350
JBrowse link
G LOC110260333 hydroxymethylglutaryl-CoA synthase, mitochondrial-like ISO SMPDB SMP:00200 NCBI chr 4:101,385,486...101,404,273
Ensembl chr 4:101,385,512...101,443,405
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00200 NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,912,828...121,106,666
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00200 NCBI chr16:47,917,308...47,996,540
Ensembl chr16:47,917,291...47,996,540
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00200 NCBI chr 1:143,993,714...144,022,372
Ensembl chr 1:143,993,731...144,024,879
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00200 NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,292...43,624,609
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00200 NCBI chr16:26,514,497...26,659,739
Ensembl chr16:26,512,396...26,659,845
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00200 NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,301,533
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00200 NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,317,497
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 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ACACA acetyl-CoA carboxylase alpha ISO SMPDB SMP:00201 NCBI chr12:38,580,916...38,875,067
Ensembl chr12:38,581,449...38,875,134
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00201 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00201 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ACSS1 acyl-CoA synthetase short chain family member 1 ISO SMPDB SMP:00201 NCBI chr17:30,800,536...30,839,799
Ensembl chr17:30,800,426...30,839,742
JBrowse link
G ACSS3 acyl-CoA synthetase short chain family member 3 ISO SMPDB SMP:00201 NCBI chr 5:100,272,255...100,429,229
Ensembl chr 5:100,270,038...100,429,204
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00201 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,357,952...97,381,841
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00201 NCBI chr 6:49,381,995...49,398,745 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00201 NCBI chr 1:85,755,819...86,017,661
Ensembl chr 1:85,715,203...86,017,600
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00201 NCBI chr 4:117,884,657...117,924,006
Ensembl chr 4:117,875,002...117,937,561
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00201 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00201 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00201 NCBI chr15:94,795,744...94,941,362
Ensembl chr15:94,785,453...94,941,381
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00201 NCBI chr 1:143,993,714...144,022,372
Ensembl chr 1:143,993,731...144,024,879
JBrowse link
G MLYCD malonyl-CoA decarboxylase ISO SMPDB SMP:00201 NCBI chr 6:4,683,386...4,698,698
Ensembl chr 6:4,681,664...4,698,661
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00201 NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,292...43,624,609
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00201 NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,301,533
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00201 NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,317,497
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 chr15:139,720,648...139,730,737
Ensembl chr15:139,720,612...139,730,736
JBrowse link
G ALAS1 aminolevulinate, delta-, synthase 1 pseudogene ISO SMPDB SMP:00223 SMP:00485 NCBI chr13:34,333,263...34,347,435
Ensembl chr13:34,333,113...34,347,590
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00223 SMP:00485 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G AMT aminomethyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr13:31,995,600...32,002,514
Ensembl chr13:31,995,595...32,002,470
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:87,911,093...87,935,252
Ensembl chr 2:87,866,607...87,935,253
JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00223 SMP:00485 NCBI chr13:206,205,942...206,231,363 JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 6:142,454,922...142,486,352
Ensembl chr 6:142,435,690...142,486,367
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G DMGDH dimethylglycine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:87,791,827...87,867,189
Ensembl chr 2:87,678,811...87,866,856
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:77,076,566...77,079,751
Ensembl chr 2:77,076,566...77,079,766
JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162
JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 1:126,361,968...126,378,705
Ensembl chr 1:126,361,945...126,380,872
JBrowse link
G GCAT glycine C-acetyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 5:10,027,133...10,038,494
Ensembl chr 5:10,011,009...10,038,433
JBrowse link
G GLDC glycine decarboxylase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 1:215,608,854...215,715,062
Ensembl chr 1:215,608,849...215,715,061
JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00223 SMP:00485 NCBI chr13:34,433,403...34,440,037
Ensembl chr13:34,433,398...34,440,288
JBrowse link
G GNMT glycine N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 7:38,038,359...38,041,218
Ensembl chr 7:38,038,358...38,041,218
JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00223 SMP:00485 NCBI chr  X:38,930,452...39,006,220 JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 4:101,445,977...101,478,144
Ensembl chr 4:101,408,308...101,478,144
JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 1:231,142,673...231,172,364
Ensembl chr 1:231,142,625...231,172,363
JBrowse link
G PSPH phosphoserine phosphatase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 3:16,877,904...16,903,062
Ensembl chr 3:16,877,923...16,907,952
JBrowse link
G SARDH sarcosine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 1:273,230,357...273,295,170
Ensembl chr 1:273,228,838...273,295,104
JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 4:110,857,067...110,874,712
Ensembl chr 4:110,857,088...110,874,815
JBrowse link
G SDS serine dehydratase ISO SMPDB SMP:00223 SMP:00485 NCBI chr14:38,503,922...38,513,908
Ensembl chr14:38,503,930...38,513,880
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr12:60,414,421...60,435,451
Ensembl chr12:60,414,446...60,435,450
JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 5:22,535,780...22,540,322
Ensembl chr 5:22,532,894...22,540,321
JBrowse link
G SRR serine racemase ISO SMPDB SMP:00223 SMP:00485 NCBI chr12:48,386,915...48,407,917
Ensembl chr12:48,386,674...48,462,849
JBrowse link
ornithine carbamoyltransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00205 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,038...32,028,986
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00205 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,869
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00205 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,361
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00205 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,209,999...113,339,078
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00205 NCBI chr 5:21,806,405...21,820,001
Ensembl chr 5:21,806,406...21,820,001
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00205 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00205 NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,198...20,432,068
JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00205 NCBI chr 4:297,747...302,498
Ensembl chr 4:297,748...320,056
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00205 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,837
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00205 NCBI chr 3:76,938,102...76,970,519
Ensembl chr 3:76,938,105...76,970,508
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00205 NCBI chr 6:52,647,432...52,661,464
Ensembl chr 6:52,647,432...52,661,459
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00205 NCBI chr15:77,895,935...78,021,930
Ensembl chr15:77,895,935...78,098,383
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00205 NCBI chr11:15,494,176...15,551,172
Ensembl chr11:15,494,385...15,559,312
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 6:77,373,999...77,404,015
Ensembl chr 6:77,373,999...77,393,651
JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00506 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,038...32,028,986
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00506 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,869
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00506 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,361
JBrowse link
G CKB creatine kinase B ISO SMPDB SMP:00506
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00506 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,209,999...113,339,078
JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00506 NCBI chr14:41,931,549...41,950,628
Ensembl chr14:41,929,215...41,950,633
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00506 NCBI chr10:9,579,301...9,648,416
Ensembl chr10:9,579,301...9,648,414