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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 chr16:32,832,001...32,868,680
Ensembl chr16:32,832,061...32,868,702
JBrowse link
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00719 NCBI chr 4:50,152,005...50,208,935
Ensembl chr 4:50,152,452...50,200,328
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00719 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO SMPDB SMP:00719 NCBI chr18:51,619,007...51,651,267
Ensembl chr18:51,619,007...51,651,267
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00719 NCBI chr17:76,306,585...76,358,058
Ensembl chr17:76,306,585...76,358,058
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00719 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00719 NCBI chr 6:108,936,534...108,961,322
Ensembl chr 6:108,936,664...108,959,803
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00719 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr19:26,000,497...26,006,970
Ensembl chr19:26,000,497...26,006,970
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00719 NCBI chr10:64,951,986...64,964,865
Ensembl chr10:64,952,119...64,964,862
JBrowse link
G Slc25a2 solute carrier family 25 member 2 ISO SMPDB SMP:00719 NCBI chr18:30,774,205...30,775,401
Ensembl chr18:30,774,205...30,775,401
JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00719 NCBI chr16:54,459,409...54,513,349
Ensembl chr16:54,460,067...54,513,349
JBrowse link
3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00138 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00138 NCBI chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395
JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00138 NCBI chr 8:28,023,401...28,044,967
Ensembl chr 8:28,024,123...28,044,876
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00138 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00138 NCBI chr12:47,254,503...47,263,747
Ensembl chr12:47,254,484...47,263,747
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00138 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00138 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00138 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00138 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00138 NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00138 NCBI chr17:12,310,178...12,405,224
Ensembl chr17:12,310,214...12,405,205
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00138 NCBI chr 4:179,259,305...179,340,021
Ensembl chr 4:179,259,308...179,339,795
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00138 NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00138 NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00138 NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00138 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00138 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00138 NCBI chr 4:82,604,369...82,702,429
Ensembl chr 4:82,604,373...82,702,429
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00138 NCBI chr 9:53,446,185...53,526,727
Ensembl chr 9:53,446,194...53,526,728
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00138 NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00138 NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00138 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00138 NCBI chr 3:110,669,355...110,689,789
Ensembl chr 3:110,669,312...110,690,173
JBrowse link
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00138 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00138 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00138 NCBI chr 1:125,229,487...125,252,692
Ensembl chr 1:125,229,469...125,252,666
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00138 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00138 NCBI chr 2:53,859,738...54,007,733
Ensembl chr 2:53,859,737...54,007,756
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00138 NCBI chr15:108,960,509...109,306,879
Ensembl chr15:108,960,562...109,306,603
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00138 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
3-hydroxyisobutyric aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00521 SMP:00522 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395
JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 8:28,023,401...28,044,967
Ensembl chr 8:28,024,123...28,044,876
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr12:47,254,503...47,263,747
Ensembl chr12:47,254,484...47,263,747
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00521 SMP:00522 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00521 SMP:00522 NCBI chr17:12,310,178...12,405,224
Ensembl chr17:12,310,214...12,405,205
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 4:179,259,305...179,340,021
Ensembl chr 4:179,259,308...179,339,795
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00521 SMP:00522 NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 4:82,604,369...82,702,429
Ensembl chr 4:82,604,373...82,702,429
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 9:53,446,185...53,526,727
Ensembl chr 9:53,446,194...53,526,728
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00521 SMP:00522 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 3:110,669,355...110,689,789
Ensembl chr 3:110,669,312...110,690,173
JBrowse link
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:125,229,487...125,252,692
Ensembl chr 1:125,229,469...125,252,666
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:53,859,738...54,007,733
Ensembl chr 2:53,859,737...54,007,756
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00521 SMP:00522 NCBI chr15:108,960,509...109,306,879
Ensembl chr15:108,960,562...109,306,603
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00521 SMP:00522 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
3-methylcrotonyl CoA carboxylase 1 deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00237 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00237 NCBI chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395
JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00237 NCBI chr 8:28,023,401...28,044,967
Ensembl chr 8:28,024,123...28,044,876
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00237 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00237 NCBI chr12:47,254,503...47,263,747
Ensembl chr12:47,254,484...47,263,747
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00237 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00237 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00237 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00237 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00237 NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00237 NCBI chr17:12,310,178...12,405,224
Ensembl chr17:12,310,214...12,405,205
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00237 NCBI chr 4:179,259,305...179,340,021
Ensembl chr 4:179,259,308...179,339,795
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00237 NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00237 NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00237 NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00237 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00237 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00237 NCBI chr 4:82,604,369...82,702,429
Ensembl chr 4:82,604,373...82,702,429
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00237 NCBI chr 9:53,446,185...53,526,727
Ensembl chr 9:53,446,194...53,526,728
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00237 NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00237 NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00237 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00237 NCBI chr 3:110,669,355...110,689,789
Ensembl chr 3:110,669,312...110,690,173
JBrowse link
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00237 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00237 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00237 NCBI chr 1:125,229,487...125,252,692
Ensembl chr 1:125,229,469...125,252,666
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00237 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00237 NCBI chr 2:53,859,738...54,007,733
Ensembl chr 2:53,859,737...54,007,756
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00237 NCBI chr15:108,960,509...109,306,879
Ensembl chr15:108,960,562...109,306,603
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00237 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
AGAT deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 5:158,090,238...158,115,725
Ensembl chr 5:158,042,587...158,135,733
JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00362 SMP:00507 NCBI chr 6:136,142,956...136,145,838
Ensembl chr 6:136,142,956...136,145,837
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Dao D-amino-acid oxidase ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:48,353,691...48,373,647
Ensembl chr12:48,354,196...48,365,784
JBrowse link
G Eprs glutamyl-prolyl-tRNA synthetase ISO SMPDB SMP:00362 SMP:00507 NCBI chr13:103,300,911...103,371,651
Ensembl chr13:103,300,932...103,371,577
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:204,562,289...204,582,070
Ensembl chr 1:204,562,289...204,582,070
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00362 SMP:00507 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:165,295,835...165,330,922
Ensembl chr 1:165,295,847...165,330,322
JBrowse link
G Prodh1 proline dehydrogenase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr11:87,058,478...87,075,785
Ensembl chr11:87,058,616...87,075,785
JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00362 SMP:00507 NCBI chr13:99,184,624...99,188,418
Ensembl chr13:99,184,564...99,188,431
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00362 SMP:00507 NCBI chr 5:50,075,510...50,127,625
Ensembl chr 5:50,075,527...50,127,424
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00362 SMP:00507 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
JBrowse link
alkaptonuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00169 NCBI chr10:47,490,168...47,499,855
Ensembl chr10:47,490,153...47,499,876
JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO SMPDB SMP:00169 NCBI chr 4:78,496,043...78,515,582
Ensembl chr 4:78,496,043...78,515,584
JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00169 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00169 NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00169 NCBI chr15:103,208,174...103,245,033
Ensembl chr15:103,208,258...103,244,494
JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00169 NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00169 NCBI chr 1:146,713,663...146,736,339
Ensembl chr 1:146,713,676...146,736,261
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00169 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00169 NCBI chr 6:111,176,798...111,187,246
Ensembl chr 6:111,176,798...111,187,244
JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00169 NCBI chr 6:7,045,145...7,059,227
Ensembl chr 6:7,045,152...7,058,314
JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00169 NCBI chr11:65,983,221...66,034,555
Ensembl chr11:65,983,221...66,034,573
JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00169 NCBI chr12:38,828,606...38,839,956
Ensembl chr12:38,828,444...38,839,969
JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00169 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
JBrowse link
G Mif macrophage migration inhibitory factor ISO SMPDB SMP:00169 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO SMPDB SMP:00169 NCBI chr10:86,340,893...86,342,501
Ensembl chr10:86,340,940...86,342,858
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00169 NCBI chr19:41,675,639...41,686,195
Ensembl chr19:41,675,355...41,686,229
JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00169 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
argininosuccinic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00003 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00003 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00003 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00003 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00003 NCBI chr 7:2,605,679...2,621,853
Ensembl chr 7:2,605,719...2,621,852
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00003 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00003 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00003 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00003 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00003 NCBI chr14:104,582,884...104,612,417
Ensembl chr14:104,581,190...104,612,597
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00003 NCBI chr 1:78,710,686...78,724,789
Ensembl chr 1:78,710,539...78,724,794
JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00003 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00003 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
JBrowse link
aromatic L-amino acid decarboxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00170 NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00170 NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO SMPDB SMP:00170 NCBI chr10:86,340,893...86,342,501
Ensembl chr10:86,340,940...86,342,858
JBrowse link
G Th tyrosine hydroxylase ISO SMPDB SMP:00170 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
biotinidase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btd biotinidase ISO SMPDB SMP:00174 NCBI chr16:7,758,192...7,791,301
Ensembl chr16:7,758,996...7,791,243
JBrowse link
G Hlcs holocarboxylase synthetase ISO SMPDB SMP:00174 NCBI chr11:34,357,372...34,537,798
Ensembl chr11:34,352,287...34,526,931
JBrowse link
G Spcs1 signal peptidase complex subunit 1 ISO SMPDB SMP:00174 NCBI chr16:7,080,389...7,081,957
Ensembl chr16:7,080,454...7,082,193
JBrowse link
carbamoyl phosphate synthetase I deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00002 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chr 7:2,605,679...2,621,853
Ensembl chr 7:2,605,719...2,621,852
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00002 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00002 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chr14:104,582,884...104,612,417
Ensembl chr14:104,581,190...104,612,597
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chr 1:78,710,686...78,724,789
Ensembl chr 1:78,710,539...78,724,794
JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
JBrowse link
carnosinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00493 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00493 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00493 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO SMPDB SMP:00493 NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO SMPDB SMP:00493 NCBI chr18:81,466,717...81,512,841
Ensembl chr18:81,466,716...81,499,051
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00493 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00493 NCBI chr 7:78,769,918...78,847,941
Ensembl chr 7:78,769,807...78,847,974
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00493 NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00493 NCBI chr20:14,167,383...14,193,724
Ensembl chr20:14,167,586...14,193,690
JBrowse link
citrullinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00001 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00001 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00001 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00001 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00001 NCBI chr 7:2,605,679...2,621,853
Ensembl chr 7:2,605,719...2,621,852
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00001 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00001 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00001 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00001 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00001 NCBI chr14:104,582,884...104,612,417
Ensembl chr14:104,581,190...104,612,597
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00001 NCBI chr 1:78,710,686...78,724,789
Ensembl chr 1:78,710,539...78,724,794
JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00001 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00001 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
JBrowse link
cystathioninuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO SMPDB SMP:00514 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00514 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
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 chr 9:100,281,339...100,291,292
Ensembl chr 9:100,281,339...100,291,291
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 8:114,927,704...114,941,038
Ensembl chr 8:114,927,722...114,940,177
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00242 SMP:00484 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 8:117,068,388...117,078,633
Ensembl chr 8:117,068,582...117,077,913
JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 2:23,236,573...23,256,158
Ensembl chr 2:23,236,575...23,256,158
JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00242 SMP:00484 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 2:23,289,376...23,370,360
Ensembl chr 2:23,289,374...23,370,477
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
JBrowse link
G Gars glycyl-tRNA synthetase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
JBrowse link
G Gcat glycine C-acetyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 7:120,263,068...120,269,365
Ensembl chr 7:120,263,054...120,269,451
JBrowse link
G Gldc glycine decarboxylase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 8:114,846,210...114,853,374
Ensembl chr 8:114,848,084...114,853,103
JBrowse link
G Gnmt glycine N-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 9:16,565,274...16,568,626
Ensembl chr 9:16,565,225...16,568,627
JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00242 SMP:00484 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 2:200,484,245...200,513,564
Ensembl chr 2:200,484,246...200,513,564
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 1:233,124,089...233,145,941
Ensembl chr 1:233,124,092...233,145,941
JBrowse link
G Psph phosphoserine phosphatase ISO SMPDB SMP:00242 SMP:00484 NCBI chr12:30,514,128...30,526,551
Ensembl chr12:30,514,112...30,526,557
JBrowse link
G Sardh sarcosine dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 3:5,737,203...5,802,153
Ensembl chr 3:5,737,200...5,802,129
JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 2:211,219,743...211,235,475
Ensembl chr 2:211,219,750...211,235,467
JBrowse link
G Sds serine dehydratase ISO SMPDB SMP:00242 SMP:00484 NCBI chr12:41,620,429...41,627,741
Ensembl chr12:41,620,393...41,627,741
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr10:47,030,813...47,059,216
Ensembl chr10:47,031,050...47,059,216
JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 7:70,824,718...70,829,822
Ensembl chr 7:70,824,715...70,829,815
JBrowse link
G Srr serine racemase ISO SMPDB SMP:00242 SMP:00484 NCBI chr10:61,756,138...61,772,327
Ensembl chr10:61,756,138...61,772,293
JBrowse link
GABA aminotransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00351 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00351 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00351 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO SMPDB SMP:00351 NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO SMPDB SMP:00351 NCBI chr18:81,466,717...81,512,841
Ensembl chr18:81,466,716...81,499,051
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00351 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00351 NCBI chr 7:78,769,918...78,847,941
Ensembl chr 7:78,769,807...78,847,974
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00351 NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00351 NCBI chr20:14,167,383...14,193,724
Ensembl chr20:14,167,586...14,193,690
JBrowse link
glutaric aciduria type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadat aminoadipate aminotransferase ISO SMPDB SMP:00186 NCBI chr16:32,832,001...32,868,680
Ensembl chr16:32,832,061...32,868,702
JBrowse link
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00186 NCBI chr 4:50,152,005...50,208,935
Ensembl chr 4:50,152,452...50,200,328
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00185 NCBI chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395
JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00185 NCBI chr 9:73,833,368...73,871,857
Ensembl chr 9:73,833,388...73,871,888
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00185 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00185 NCBI chr12:47,254,503...47,263,747
Ensembl chr12:47,254,484...47,263,747
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00185 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO SMPDB SMP:00185 NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00185 NCBI chr16:48,937,456...49,003,898
Ensembl chr16:48,937,456...49,003,246
JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO SMPDB SMP:00186 NCBI chr18:51,619,007...51,651,267
Ensembl chr18:51,619,007...51,651,267
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00185 NCBI chr 1:218,568,157...218,629,679
Ensembl chr 1:218,569,510...218,629,678
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00185 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00186 NCBI chr17:76,306,585...76,358,058
Ensembl chr17:76,306,585...76,358,058
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00186 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00186 NCBI chr 6:108,936,534...108,961,322
Ensembl chr 6:108,936,664...108,959,803
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00185 SMP:00186 NCBI chr19:26,000,497...26,006,970
Ensembl chr19:26,000,497...26,006,970
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00186 NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00185 NCBI chr 6:27,589,840...27,628,921
Ensembl chr 6:27,589,657...27,629,175
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00185 NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00186 NCBI chr10:64,951,986...64,964,865
Ensembl chr10:64,952,119...64,964,862
JBrowse link
G Slc25a2 solute carrier family 25 member 2 ISO SMPDB SMP:00186 NCBI chr18:30,774,205...30,775,401
Ensembl chr18:30,774,205...30,775,401
JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00186 NCBI chr16:54,459,409...54,513,349
Ensembl chr16:54,460,067...54,513,349
JBrowse link
glutathione synthase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anpep alanyl aminopeptidase, membrane ISO SMPDB SMP:00143 SMP:00337 NCBI chr 1:141,561,364...141,604,249
Ensembl chr 1:141,561,334...141,604,273
JBrowse link
G Casp7 caspase 7 ISO SMPDB SMP:00143 SMP:00337 NCBI chr 1:277,190,557...277,242,779
Ensembl chr 1:277,190,964...277,242,774
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00143 SMP:00337 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO SMPDB SMP:00143 SMP:00337 NCBI chr 2:225,827,504...225,847,876
Ensembl chr 2:225,827,504...225,847,874
JBrowse link
G Ggct gamma-glutamyl cyclotransferase ISO SMPDB SMP:00143 SMP:00337 NCBI chr 4:85,186,644...85,192,857
Ensembl chr 4:85,186,644...85,192,834
JBrowse link
G Ggt6 gamma-glutamyl transferase 6 ISO SMPDB SMP:00143 SMP:00337 NCBI chr10:58,995,253...58,998,431
Ensembl chr10:58,995,556...58,998,033
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO SMPDB SMP:00143 SMP:00337 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00143 SMP:00337 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00143 SMP:00337 NCBI chr 3:151,076,254...151,106,557
Ensembl chr 3:151,076,254...151,106,557
JBrowse link
G Gsto2 glutathione S-transferase omega 2 ISO SMPDB SMP:00143 SMP:00337 NCBI chr 1:267,617,517...267,640,455
Ensembl chr 1:271,229,036...271,243,517
Ensembl chr 1:271,229,036...271,243,517
JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO SMPDB SMP:00143 SMP:00337 NCBI chr 7:117,353,951...117,394,205
Ensembl chr 7:117,353,786...117,369,159
JBrowse link
glutathionuria disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anpep alanyl aminopeptidase, membrane ISO SMPDB SMP:00501 NCBI chr 1:141,561,364...141,604,249
Ensembl chr 1:141,561,334...141,604,273
JBrowse link
G Casp7 caspase 7 ISO SMPDB SMP:00501 NCBI chr 1:277,190,557...277,242,779
Ensembl chr 1:277,190,964...277,242,774
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00501 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO SMPDB SMP:00501 NCBI chr 2:225,827,504...225,847,876
Ensembl chr 2:225,827,504...225,847,874
JBrowse link
G Ggct gamma-glutamyl cyclotransferase ISO SMPDB SMP:00501 NCBI chr 4:85,186,644...85,192,857
Ensembl chr 4:85,186,644...85,192,834
JBrowse link
G Ggt6 gamma-glutamyl transferase 6 ISO SMPDB SMP:00501 NCBI chr10:58,995,253...58,998,431
Ensembl chr10:58,995,556...58,998,033
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO SMPDB SMP:00501 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00501 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00501 NCBI chr 3:151,076,254...151,106,557
Ensembl chr 3:151,076,254...151,106,557
JBrowse link
G Gsto2 glutathione S-transferase omega 2 ISO SMPDB SMP:00501 NCBI chr 1:267,617,517...267,640,455
Ensembl chr 1:271,229,036...271,243,517
Ensembl chr 1:271,229,036...271,243,517
JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO SMPDB SMP:00501 NCBI chr 7:117,353,951...117,394,205
Ensembl chr 7:117,353,786...117,369,159
JBrowse link
glycine N-methyltransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO SMPDB SMP:00222 NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00222 NCBI chr20:45,384,000...45,399,694
Ensembl chr20:45,384,000...45,399,694
JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00222 NCBI chr 2:23,236,573...23,256,158
Ensembl chr 2:23,236,575...23,256,158
JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00222 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00222 NCBI chr16:6,078,083...6,109,386
Ensembl chr16:6,078,122...6,109,382
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00222 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00222 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00222 NCBI chr 1:100,811,727...100,836,901
Ensembl chr 1:100,830,064...100,836,677
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00222 NCBI chr 7:70,585,011...70,602,425
Ensembl chr 7:70,585,013...70,602,310
JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00222 NCBI chr 4:100,297,478...100,303,047
Ensembl chr 4:100,296,075...100,303,080
JBrowse link
G Mat2b methionine adenosyltransferase 2B ISO SMPDB SMP:00222 NCBI chr10:25,832,096...25,848,045
Ensembl chr10:25,832,072...25,847,994
JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00222 NCBI chr17:86,066,841...86,148,131
Ensembl chr17:86,066,833...86,148,130
JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00222 NCBI chr 7:62,850,506...62,972,487
Ensembl chr 7:62,850,515...62,972,084
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00222 NCBI chr 5:107,711,077...107,777,530
Ensembl chr 5:107,711,077...107,777,530
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00222 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00222 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00222 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00222 NCBI chr10:47,030,813...47,059,216
Ensembl chr10:47,031,050...47,059,216
JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00222 NCBI chr 5:165,405,168...165,408,325
Ensembl chr 5:165,405,168...165,408,320
JBrowse link
hawkinsinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00190 NCBI chr10:47,490,168...47,499,855
Ensembl chr10:47,490,153...47,499,876
JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO SMPDB SMP:00190 NCBI chr 4:78,496,043...78,515,582
Ensembl chr 4:78,496,043...78,515,584
JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00190 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00190 NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00190 NCBI chr15:103,208,174...103,245,033
Ensembl chr15:103,208,258...103,244,494
JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00190 NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00190 NCBI chr 1:146,713,663...146,736,339
Ensembl chr 1:146,713,676...146,736,261
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00190 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00190 NCBI chr 6:111,176,798...111,187,246
Ensembl chr 6:111,176,798...111,187,244
JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00190 NCBI chr 6:7,045,145...7,059,227
Ensembl chr 6:7,045,152...7,058,314
JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00190 NCBI chr11:65,983,221...66,034,555
Ensembl chr11:65,983,221...66,034,573
JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00190 NCBI chr12:38,828,606...38,839,956
Ensembl chr12:38,828,444...38,839,969
JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00190 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
JBrowse link
G Mif macrophage migration inhibitory factor ISO SMPDB SMP:00190 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO SMPDB SMP:00190 NCBI chr10:86,340,893...86,342,501
Ensembl chr10:86,340,940...86,342,858
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00190 NCBI chr19:41,675,639...41,686,195
Ensembl chr19:41,675,355...41,686,229
JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00190 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
histidinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00191 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00191 NCBI chr10:47,490,168...47,499,855
Ensembl chr10:47,490,153...47,499,876
JBrowse link
G Amdhd1 amidohydrolase domain containing 1 ISO SMPDB SMP:00191 NCBI chr 7:34,362,635...34,406,282
Ensembl chr 7:34,361,633...34,406,318
JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO SMPDB SMP:00191 NCBI chr 4:78,496,043...78,515,582
Ensembl chr 4:78,496,043...78,515,584
JBrowse link
G Carnmt1 carnosine N-methyltransferase 1 ISO SMPDB SMP:00191 NCBI chr 1:234,675,442...234,704,856
Ensembl chr 1:234,677,692...234,704,792
JBrowse link
G Carns1 carnosine synthase 1 ISO SMPDB SMP:00191 NCBI chr 1:219,413,897...219,424,533
Ensembl chr 1:219,414,915...219,422,268
JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO SMPDB SMP:00191 NCBI chr18:81,466,717...81,512,841
Ensembl chr18:81,466,716...81,499,051
JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO SMPDB SMP:00191 NCBI chr18:81,521,966...81,539,065
Ensembl chr18:81,521,968...81,539,065
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO SMPDB SMP:00191 NCBI chr20:12,806,957...12,820,466
Ensembl chr20:12,806,957...12,820,466
JBrowse link
G Hal histidine ammonia lyase ISO SMPDB SMP:00191 NCBI chr 7:34,326,087...34,356,413
Ensembl chr 7:34,326,087...34,356,413
JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO SMPDB SMP:00191 NCBI chr18:29,611,545...29,629,087
Ensembl chr18:29,611,547...29,629,087
JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00191 NCBI chr18:29,629,203...29,638,460
Ensembl chr18:29,629,184...29,638,721
JBrowse link
G Hdc histidine decarboxylase ISO SMPDB SMP:00191 NCBI chr 3:119,057,524...119,075,599
Ensembl chr 3:119,057,517...119,075,619
JBrowse link
G Hnmt histamine N-methyltransferase ISO SMPDB SMP:00191 NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00191 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
JBrowse link
G Prmt3 protein arginine methyltransferase 3 ISO SMPDB SMP:00191 NCBI chr 1:105,113,595...105,200,253
Ensembl chr 1:105,113,595...105,200,470
JBrowse link
G Uroc1 urocanate hydratase 1 ISO SMPDB SMP:00191 NCBI chr 4:122,244,744...122,276,357
Ensembl chr 4:122,244,711...122,276,361
JBrowse link
holocarboxylase synthetase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btd biotinidase ISO SMPDB SMP:00564 NCBI chr16:7,758,192...7,791,301
Ensembl chr16:7,758,996...7,791,243
JBrowse link
G Hlcs holocarboxylase synthetase ISO SMPDB SMP:00564 NCBI chr11:34,357,372...34,537,798
Ensembl chr11:34,352,287...34,526,931
JBrowse link
G Spcs1 signal peptidase complex subunit 1 ISO SMPDB SMP:00564 NCBI chr16:7,080,389...7,081,957
Ensembl chr16:7,080,454...7,082,193
JBrowse link
homocarnosinosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00385 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00385 NCBI chr 5:158,090,238...158,115,725
Ensembl chr 5:158,042,587...158,135,733
JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO SMPDB SMP:00385 NCBI chr17:42,133,076...42,159,413
Ensembl chr17:42,133,076...42,159,413
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00385 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00385 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00385 NCBI chr 1:191,997,512...192,025,350
Ensembl chr 1:191,997,512...192,025,350
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00385 NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00385 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO SMPDB SMP:00385 NCBI chr 2:225,827,504...225,847,876
Ensembl chr 2:225,827,504...225,847,874
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00385 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00385 NCBI chr 7:2,605,679...2,621,853
Ensembl chr 7:2,605,719...2,621,852
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00385 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Glul glutamate-ammonia ligase ISO SMPDB SMP:00385 NCBI chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00385 NCBI chr 2:154,555,967...154,590,662
Ensembl chr 2:154,555,871...154,590,662
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00385 NCBI chr15:19,721,292...19,734,032
Ensembl chr15:19,721,293...19,733,967
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00385 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00385 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00385 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00385 NCBI chr 3:151,076,254...151,106,557
Ensembl chr 3:151,076,254...151,106,557
JBrowse link
G Nadsyn1 NAD synthetase 1 ISO SMPDB SMP:00385 NCBI chr 1:216,985,710...217,013,743
Ensembl chr 1:216,985,714...217,013,702
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00385 NCBI chr 4:115,473,848...115,485,027
Ensembl chr 4:115,473,811...115,481,438
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00385 NCBI chr14:33,580,541...33,614,919
Ensembl chr14:33,580,541...33,614,919
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00385 NCBI chr 8:117,297,670...117,305,708
Ensembl chr 8:117,297,670...117,305,702
JBrowse link
homocystinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO SMPDB SMP:00177 NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00177 NCBI chr20:45,384,000...45,399,694
Ensembl chr20:45,384,000...45,399,694
JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00177 NCBI chr 2:23,236,573...23,256,158
Ensembl chr 2:23,236,575...23,256,158
JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00177 SMP:00515 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00177 NCBI chr16:6,078,083...6,109,386
Ensembl chr16:6,078,122...6,109,382
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00177 SMP:00515 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00177 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00177 NCBI chr 1:100,811,727...100,836,901
Ensembl chr 1:100,830,064...100,836,677
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00177 NCBI chr 7:70,585,011...70,602,425
Ensembl chr 7:70,585,013...70,602,310
JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00177 NCBI chr 4:100,297,478...100,303,047
Ensembl chr 4:100,296,075...100,303,080
JBrowse link
G Mat2b methionine adenosyltransferase 2B ISO SMPDB SMP:00177 NCBI chr10:25,832,096...25,848,045
Ensembl chr10:25,832,072...25,847,994
JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00177 NCBI chr17:86,066,841...86,148,131
Ensembl chr17:86,066,833...86,148,130
JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00177 NCBI chr 7:62,850,506...62,972,487
Ensembl chr 7:62,850,515...62,972,084
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00177 NCBI chr 5:107,711,077...107,777,530
Ensembl chr 5:107,711,077...107,777,530
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00177 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00177 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00177 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00177 NCBI chr10:47,030,813...47,059,216
Ensembl chr10:47,031,050...47,059,216
JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00177 NCBI chr 5:165,405,168...165,408,325
Ensembl chr 5:165,405,168...165,408,320
JBrowse link
hyperargininemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00357 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00357 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00357 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00357 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00357 NCBI chr 7:2,605,679...2,621,853
Ensembl chr 7:2,605,719...2,621,852
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00357 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00357 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00357 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00357 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00357 NCBI chr14:104,582,884...104,612,417
Ensembl chr14:104,581,190...104,612,597
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00357 NCBI chr 1:78,710,686...78,724,789
Ensembl chr 1:78,710,539...78,724,794
JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00357 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00357 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
JBrowse link
hyperlysinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadat aminoadipate aminotransferase ISO SMPDB SMP:00527 NCBI chr16:32,832,001...32,868,680
Ensembl chr16:32,832,061...32,868,702
JBrowse link
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00527 NCBI chr 4:50,152,005...50,208,935
Ensembl chr 4:50,152,452...50,200,328
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00527 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO SMPDB SMP:00527 NCBI chr18:51,619,007...51,651,267
Ensembl chr18:51,619,007...51,651,267
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00527 NCBI chr17:76,306,585...76,358,058
Ensembl chr17:76,306,585...76,358,058
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00527 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00527 NCBI chr 6:108,936,534...108,961,322
Ensembl chr 6:108,936,664...108,959,803
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00527 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chr19:26,000,497...26,006,970
Ensembl chr19:26,000,497...26,006,970
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00527 NCBI chr10:64,951,986...64,964,865
Ensembl chr10:64,952,119...64,964,862
JBrowse link
G Slc25a2 solute carrier family 25 member 2 ISO SMPDB SMP:00527 NCBI chr18:30,774,205...30,775,401
Ensembl chr18:30,774,205...30,775,401
JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00527 NCBI chr16:54,459,409...54,513,349
Ensembl chr16:54,460,067...54,513,349
JBrowse link
hypermethioninemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO SMPDB SMP:00341 NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00341 NCBI chr20:45,384,000...45,399,694
Ensembl chr20:45,384,000...45,399,694
JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00341 NCBI chr 2:23,236,573...23,256,158
Ensembl chr 2:23,236,575...23,256,158
JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00341 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00341 NCBI chr16:6,078,083...6,109,386
Ensembl chr16:6,078,122...6,109,382
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00341 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00341 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00341 NCBI chr 1:100,811,727...100,836,901
Ensembl chr 1:100,830,064...100,836,677
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00341 NCBI chr 7:70,585,011...70,602,425
Ensembl chr 7:70,585,013...70,602,310
JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00341 NCBI chr 4:100,297,478...100,303,047
Ensembl chr 4:100,296,075...100,303,080
JBrowse link
G Mat2b methionine adenosyltransferase 2B ISO SMPDB SMP:00341 NCBI chr10:25,832,096...25,848,045
Ensembl chr10:25,832,072...25,847,994
JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00341 NCBI chr17:86,066,841...86,148,131
Ensembl chr17:86,066,833...86,148,130
JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00341 NCBI chr 7:62,850,506...62,972,487
Ensembl chr 7:62,850,515...62,972,084
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00341 NCBI chr 5:107,711,077...107,777,530
Ensembl chr 5:107,711,077...107,777,530
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00341 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00341 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00341 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00341 NCBI chr10:47,030,813...47,059,216
Ensembl chr10:47,031,050...47,059,216
JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00341 NCBI chr 5:165,405,168...165,408,325
Ensembl chr 5:165,405,168...165,408,320
JBrowse link
hyperprolinemia type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00361 NCBI chr 5:158,090,238...158,115,725
Ensembl chr 5:158,042,587...158,135,733
JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00361 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00361 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00361 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00361 NCBI chr 6:136,142,956...136,145,838
Ensembl chr 6:136,142,956...136,145,837
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00361 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Dao D-amino-acid oxidase ISO SMPDB SMP:00361 NCBI chr12:48,353,691...48,373,647
Ensembl chr12:48,354,196...48,365,784
JBrowse link
G Eprs glutamyl-prolyl-tRNA synthetase ISO SMPDB SMP:00361 NCBI chr13:103,300,911...103,371,651
Ensembl chr13:103,300,932...103,371,577
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00361 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00361 NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00361 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00361 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00361 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00361 NCBI chr 1:204,562,289...204,582,070
Ensembl chr 1:204,562,289...204,582,070
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00361 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00361 NCBI chr 1:165,295,835...165,330,922
Ensembl chr 1:165,295,847...165,330,322
JBrowse link
G Prodh1 proline dehydrogenase 1 ISO SMPDB SMP:00361 NCBI chr11:87,058,478...87,075,785
Ensembl chr11:87,058,616...87,075,785
JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00361 NCBI chr13:99,184,624...99,188,418
Ensembl chr13:99,184,564...99,188,431
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00361 NCBI chr 5:50,075,510...50,127,625
Ensembl chr 5:50,075,527...50,127,424
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00361 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
JBrowse link
hyperprolinemia type II pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00360 NCBI chr 5:158,090,238...158,115,725
Ensembl chr 5:158,042,587...158,135,733
JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00360 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00360 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00360 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00360 NCBI chr 6:136,142,956...136,145,838
Ensembl chr 6:136,142,956...136,145,837
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00360 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Dao D-amino-acid oxidase ISO SMPDB SMP:00360 NCBI chr12:48,353,691...48,373,647
Ensembl chr12:48,354,196...48,365,784
JBrowse link
G Eprs glutamyl-prolyl-tRNA synthetase ISO SMPDB SMP:00360 NCBI chr13:103,300,911...103,371,651
Ensembl chr13:103,300,932...103,371,577
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00360 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00360 NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00360 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00360 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00360 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00360 NCBI chr 1:204,562,289...204,582,070
Ensembl chr 1:204,562,289...204,582,070
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00360 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00360 NCBI chr 1:165,295,835...165,330,922
Ensembl chr 1:165,295,847...165,330,322
JBrowse link
G Prodh1 proline dehydrogenase 1 ISO SMPDB SMP:00360 NCBI chr11:87,058,478...87,075,785
Ensembl chr11:87,058,616...87,075,785
JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00360 NCBI chr13:99,184,624...99,188,418
Ensembl chr13:99,184,564...99,188,431
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00360 NCBI chr 5:50,075,510...50,127,625
Ensembl chr 5:50,075,527...50,127,424
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00360 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
JBrowse link
isobutyryl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00523 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00523 NCBI chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395
JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00523 NCBI chr 8:28,023,401...28,044,967
Ensembl chr 8:28,024,123...28,044,876
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00523 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00523 NCBI chr12:47,254,503...47,263,747
Ensembl chr12:47,254,484...47,263,747
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00523 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00523 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00523 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00523 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00523 NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00523 NCBI chr17:12,310,178...12,405,224
Ensembl chr17:12,310,214...12,405,205
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00523 NCBI chr 4:179,259,305...179,340,021
Ensembl chr 4:179,259,308...179,339,795
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00523 NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00523 NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00523 NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00523 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00523 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00523 NCBI chr 4:82,604,369...82,702,429
Ensembl chr 4:82,604,373...82,702,429
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00523 NCBI chr 9:53,446,185...53,526,727
Ensembl chr 9:53,446,194...53,526,728
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00523 NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00523 NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00523 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00523 NCBI chr 3:110,669,355...110,689,789
Ensembl chr 3:110,669,312...110,690,173
JBrowse link
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00523 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00523 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00523 NCBI chr 1:125,229,487...125,252,692
Ensembl chr 1:125,229,469...125,252,666
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00523 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00523 NCBI chr 2:53,859,738...54,007,733
Ensembl chr 2:53,859,737...54,007,756
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00523 NCBI chr15:108,960,509...109,306,879
Ensembl chr15:108,960,562...109,306,603
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00523 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
isovaleric acidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00238 SMP:00524 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395
JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 8:28,023,401...28,044,967
Ensembl chr 8:28,024,123...28,044,876
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr12:47,254,503...47,263,747
Ensembl chr12:47,254,484...47,263,747
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00238 SMP:00524 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00238 SMP:00524 NCBI chr17:12,310,178...12,405,224
Ensembl chr17:12,310,214...12,405,205
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 4:179,259,305...179,340,021
Ensembl chr 4:179,259,308...179,339,795
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00238 SMP:00524 NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 4:82,604,369...82,702,429
Ensembl chr 4:82,604,373...82,702,429
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 9:53,446,185...53,526,727
Ensembl chr 9:53,446,194...53,526,728
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00238 SMP:00524 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 3:110,669,355...110,689,789
Ensembl chr 3:110,669,312...110,690,173
JBrowse link
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:125,229,487...125,252,692
Ensembl chr 1:125,229,469...125,252,666
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:53,859,738...54,007,733
Ensembl chr 2:53,859,737...54,007,756
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00238 SMP:00524 NCBI chr15:108,960,509...109,306,879
Ensembl chr15:108,960,562...109,306,603
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00238 SMP:00524 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
lysinuric protein intolerance pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360
JBrowse link
G Aqp2 aquaporin 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 7:141,237,802...141,242,837
Ensembl chr 7:141,237,768...141,245,165
JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO SMPDB SMP:00197 SMP:00585 NCBI chr 5:57,423,735...57,429,252
Ensembl chr 5:57,423,734...57,429,245
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chr13:90,605,792...90,642,032
Ensembl chr13:90,605,794...90,641,772
JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr13:82,737,161...82,757,681
Ensembl chr13:82,737,159...82,758,004
JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr10:56,205,622...56,211,879
Ensembl chr10:56,205,625...56,211,891
JBrowse link
G Atp1b3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 8:104,190,032...104,221,342
Ensembl chr 8:104,190,032...104,221,342
JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chr  X:124,631,544...124,652,520
Ensembl chr  X:124,631,881...124,652,975
JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO SMPDB SMP:00197 SMP:00585 NCBI chr 5:159,931,497...159,946,483
Ensembl chr 5:159,931,511...159,946,446
JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 8:49,710,334...49,717,492
Ensembl chr 8:49,710,477...49,716,955
JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr19:34,408,275...34,761,003
Ensembl chr19:34,448,289...34,752,695
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00197 SMP:00585 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:191,704,397...191,738,271
Ensembl chr 1:191,704,311...191,738,268
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 3:117,421,531...117,498,372
Ensembl chr 3:117,421,604...117,498,367
JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr19:11,106,033...11,144,674
Ensembl chr19:11,106,033...11,144,641
JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 3:103,752,213...103,852,686
Ensembl chr 3:103,753,238...103,852,686
JBrowse link
G Slc14a2 solute carrier family 14 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr18:74,508,070...74,941,389
Ensembl chr18:74,546,220...74,688,551
Ensembl chr18:74,546,220...74,688,551
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:246,955,017...247,035,159
Ensembl chr 1:246,954,980...247,037,056
JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:48,318,025...48,360,219
Ensembl chr 1:48,317,995...48,360,261
JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:224,824,809...224,833,284
Ensembl chr 1:224,824,799...224,833,259
JBrowse link
G Slc38a4 solute carrier family 38, member 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 7:138,459,576...138,512,952
Ensembl chr 7:138,459,504...138,512,952
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 6:8,284,937...8,318,649
Ensembl chr 6:8,284,878...8,318,674
JBrowse link
G Slc3a2 solute carrier family 3 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:224,906,566...224,921,029
Ensembl chr 1:224,906,554...224,921,092
JBrowse link
G Slc6a20 solute carrier family 6 member 20 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 8:132,713,013...132,753,145
Ensembl chr 8:132,665,927...132,753,292
JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO SMPDB SMP:00197 SMP:00585 NCBI chr19:54,693,959...54,722,563
Ensembl chr19:54,693,959...54,722,563
JBrowse link
G Slc7a6 solute carrier family 7 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr19:38,152,225...38,179,149
Ensembl chr19:38,162,515...38,179,149
JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO SMPDB SMP:00197 SMP:00585 NCBI chr15:33,013,346...33,059,733
Ensembl chr15:33,013,504...33,051,129
JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO SMPDB SMP:00197 SMP:00585 NCBI chr15:33,369,245...33,428,942
Ensembl chr15:33,369,216...33,428,973
JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:91,709,034...91,738,492
Ensembl chr 1:91,716,383...91,738,494
JBrowse link
maple syrup urine disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00199 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00199 NCBI chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395
JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00199 NCBI chr 8:28,023,401...28,044,967
Ensembl chr 8:28,024,123...28,044,876
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00199 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00199 NCBI chr12:47,254,503...47,263,747
Ensembl chr12:47,254,484...47,263,747
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00199 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00199 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00199 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00199 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00199 NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00199 NCBI chr17:12,310,178...12,405,224
Ensembl chr17:12,310,214...12,405,205
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00199 NCBI chr 4:179,259,305...179,340,021
Ensembl chr 4:179,259,308...179,339,795
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00199 NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00199 NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00199 NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00199 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00199 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00199 NCBI chr 4:82,604,369...82,702,429
Ensembl chr 4:82,604,373...82,702,429
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00199 NCBI chr 9:53,446,185...53,526,727
Ensembl chr 9:53,446,194...53,526,728
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00199 NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00199 NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00199 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00199 NCBI chr 3:110,669,355...110,689,789
Ensembl chr 3:110,669,312...110,690,173
JBrowse link
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00199 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00199 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00199 NCBI chr 1:125,229,487...125,252,692
Ensembl chr 1:125,229,469...125,252,666
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00199 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00199 NCBI chr 2:53,859,738...54,007,733
Ensembl chr 2:53,859,737...54,007,756
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00199 NCBI chr15:108,960,509...109,306,879
Ensembl chr15:108,960,562...109,306,603
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00199 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
mercaptolactate-cysteine disulfiduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cars cysteinyl-tRNA synthetase ISO SMPDB SMP:00499 NCBI chr 1:216,759,367...216,801,652
Ensembl chr 1:216,759,366...216,801,656
JBrowse link
G Cdo1 cysteine dioxygenase type 1 ISO SMPDB SMP:00499 NCBI chr18:40,702,027...40,716,901
Ensembl chr18:40,701,984...40,716,686
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00499 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO SMPDB SMP:00499 NCBI chr10:59,749,250...59,772,475
Ensembl chr10:59,749,256...59,764,868
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00499 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO SMPDB SMP:00499 NCBI chr 2:225,827,504...225,847,876
Ensembl chr 2:225,827,504...225,847,874
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00499 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
JBrowse link
G Mpst mercaptopyruvate sulfurtransferase ISO SMPDB SMP:00499 NCBI chr 7:119,626,636...119,631,317
Ensembl chr 7:119,626,637...119,631,425
JBrowse link
methylenetetrahydrofolate reductase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO SMPDB SMP:00340 NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00340 NCBI chr20:45,384,000...45,399,694
Ensembl chr20:45,384,000...45,399,694
JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00340 NCBI chr 2:23,236,573...23,256,158
Ensembl chr 2:23,236,575...23,256,158
JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00340 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00340 NCBI chr16:6,078,083...6,109,386
Ensembl chr16:6,078,122...6,109,382
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00340 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00340 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00340 NCBI chr 1:100,811,727...100,836,901
Ensembl chr 1:100,830,064...100,836,677
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00340 NCBI chr 7:70,585,011...70,602,425
Ensembl chr 7:70,585,013...70,602,310
JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00340 NCBI chr 4:100,297,478...100,303,047
Ensembl chr 4:100,296,075...100,303,080
JBrowse link
G Mat2b methionine adenosyltransferase 2B ISO SMPDB SMP:00340 NCBI chr10:25,832,096...25,848,045
Ensembl chr10:25,832,072...25,847,994
JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00340 NCBI chr17:86,066,841...86,148,131
Ensembl chr17:86,066,833...86,148,130
JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00340 NCBI chr 7:62,850,506...62,972,487
Ensembl chr 7:62,850,515...62,972,084
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00340 NCBI chr 5:107,711,077...107,777,530
Ensembl chr 5:107,711,077...107,777,530
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00340 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00340 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00340 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00340 NCBI chr10:47,030,813...47,059,216
Ensembl chr10:47,031,050...47,059,216
JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00340 NCBI chr 5:165,405,168...165,408,325
Ensembl chr 5:165,405,168...165,408,320
JBrowse link
methylmalonate semialdehyde dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00384 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00384 NCBI chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395
JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00384 NCBI chr 8:28,023,401...28,044,967
Ensembl chr 8:28,024,123...28,044,876
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00384 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00384 NCBI chr12:47,254,503...47,263,747
Ensembl chr12:47,254,484...47,263,747
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00384 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00384 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00384 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00384 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00384 NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00384 NCBI chr17:12,310,178...12,405,224
Ensembl chr17:12,310,214...12,405,205
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00384 NCBI chr 4:179,259,305...179,340,021
Ensembl chr 4:179,259,308...179,339,795
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00384 NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00384 NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00384 NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00384 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00384 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00384 NCBI chr 4:82,604,369...82,702,429
Ensembl chr 4:82,604,373...82,702,429
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00384 NCBI chr 9:53,446,185...53,526,727
Ensembl chr 9:53,446,194...53,526,728
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00384 NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00384 NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00384 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00384 NCBI chr 3:110,669,355...110,689,789
Ensembl chr 3:110,669,312...110,690,173
JBrowse link
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00384 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00384 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00384 NCBI chr 1:125,229,487...125,252,692
Ensembl chr 1:125,229,469...125,252,666
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00384 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00384 NCBI chr 2:53,859,738...54,007,733
Ensembl chr 2:53,859,737...54,007,756
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00384 NCBI chr15:108,960,509...109,306,879
Ensembl chr15:108,960,562...109,306,603
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00384 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
methylmalonic acidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00200 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00200 NCBI chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395
JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00200 NCBI chr 8:28,023,401...28,044,967
Ensembl chr 8:28,024,123...28,044,876
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00200 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00200 NCBI chr12:47,254,503...47,263,747
Ensembl chr12:47,254,484...47,263,747
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00200 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00200 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00200 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00200 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00200 NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00200 NCBI chr17:12,310,178...12,405,224
Ensembl chr17:12,310,214...12,405,205
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00200 NCBI chr 4:179,259,305...179,340,021
Ensembl chr 4:179,259,308...179,339,795
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00200 NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00200 NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00200 NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00200 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00200 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00200 NCBI chr 4:82,604,369...82,702,429
Ensembl chr 4:82,604,373...82,702,429
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00200 NCBI chr 9:53,446,185...53,526,727
Ensembl chr 9:53,446,194...53,526,728
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00200 NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00200 NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00200 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00200 NCBI chr 3:110,669,355...110,689,789
Ensembl chr 3:110,669,312...110,690,173
JBrowse link
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00200 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00200 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00200 NCBI chr 1:125,229,487...125,252,692
Ensembl chr 1:125,229,469...125,252,666
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00200 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00200 NCBI chr 2:53,859,738...54,007,733
Ensembl chr 2:53,859,737...54,007,756
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00200 NCBI chr15:108,960,509...109,306,879
Ensembl chr15:108,960,562...109,306,603
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00200 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
methylmalonic aciduria, cobalamin-related pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00201 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO SMPDB SMP:00201 NCBI chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00201 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00201 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Acss1 acyl-CoA synthetase short-chain family member 1 ISO SMPDB SMP:00201 NCBI chr 3:146,420,346...146,470,293
Ensembl chr 3:146,420,346...146,470,293
JBrowse link
G Acss3 acyl-CoA synthetase short-chain family member 3 ISO SMPDB SMP:00201 NCBI chr 7:49,047,022...49,250,953
Ensembl chr 7:49,047,013...49,250,957
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00201 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00201 NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00201 NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00201 NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00201 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00201 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00201 NCBI chr 9:53,446,185...53,526,727
Ensembl chr 9:53,446,194...53,526,728
JBrowse link
G Ldhal6b lactate dehydrogenase A-like 6B ISO SMPDB SMP:00201 NCBI chr 1:46,307,853...46,309,276 JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00201 NCBI chr 1:125,229,487...125,252,692
Ensembl chr 1:125,229,469...125,252,666
JBrowse link
G Mlycd malonyl-CoA decarboxylase ISO SMPDB SMP:00201 NCBI chr19:52,032,950...52,048,773
Ensembl chr19:52,032,886...52,048,753
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00201 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00201 NCBI chr15:108,960,509...109,306,879
Ensembl chr15:108,960,562...109,306,603
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00201 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
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 chr 9:100,281,339...100,291,292
Ensembl chr 9:100,281,339...100,291,291
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 8:114,927,704...114,941,038
Ensembl chr 8:114,927,722...114,940,177
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00223 SMP:00485 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 8:117,068,388...117,078,633
Ensembl chr 8:117,068,582...117,077,913
JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:23,236,573...23,256,158
Ensembl chr 2:23,236,575...23,256,158
JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00223 SMP:00485 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:23,289,376...23,370,360
Ensembl chr 2:23,289,374...23,370,477
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
JBrowse link
G Gars glycyl-tRNA synthetase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
JBrowse link
G Gcat glycine C-acetyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 7:120,263,068...120,269,365
Ensembl chr 7:120,263,054...120,269,451
JBrowse link
G Gldc glycine decarboxylase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 8:114,846,210...114,853,374
Ensembl chr 8:114,848,084...114,853,103
JBrowse link
G Gnmt glycine N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 9:16,565,274...16,568,626
Ensembl chr 9:16,565,225...16,568,627
JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00223 SMP:00485 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:200,484,245...200,513,564
Ensembl chr 2:200,484,246...200,513,564
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 1:233,124,089...233,145,941
Ensembl chr 1:233,124,092...233,145,941
JBrowse link
G Psph phosphoserine phosphatase ISO SMPDB SMP:00223 SMP:00485 NCBI chr12:30,514,128...30,526,551
Ensembl chr12:30,514,112...30,526,557
JBrowse link
G Sardh sarcosine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 3:5,737,203...5,802,153
Ensembl chr 3:5,737,200...5,802,129
JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:211,219,743...211,235,475
Ensembl chr 2:211,219,750...211,235,467
JBrowse link
G Sds serine dehydratase ISO SMPDB SMP:00223 SMP:00485 NCBI chr12:41,620,429...41,627,741
Ensembl chr12:41,620,393...41,627,741
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr10:47,030,813...47,059,216
Ensembl chr10:47,031,050...47,059,216
JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 7:70,824,718...70,829,822
Ensembl chr 7:70,824,715...70,829,815
JBrowse link
G Srr serine racemase ISO SMPDB SMP:00223 SMP:00485 NCBI chr10:61,756,138...61,772,327
Ensembl chr10:61,756,138...61,772,293
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 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00205 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00205 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00205 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00205 NCBI chr 7:2,605,679...2,621,853
Ensembl chr 7:2,605,719...2,621,852
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00205 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00205 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00205 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00205 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00205 NCBI chr14:104,582,884...104,612,417
Ensembl chr14:104,581,190...104,612,597
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00205 NCBI chr 1:78,710,686...78,724,789
Ensembl chr 1:78,710,539...78,724,794
JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00205 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00205 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
JBrowse link
ornithine translocase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00506 NCBI chr 5:158,090,238...158,115,725
Ensembl chr 5:158,042,587...158,135,733
JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00506 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00506 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00506 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00506 NCBI chr 6:136,142,956...136,145,838
Ensembl chr 6:136,142,956...136,145,837
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00506 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Dao D-amino-acid oxidase ISO SMPDB SMP:00506