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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:nutritional and metabolic disease pathway
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Accession:PW:0001583 term browser browse the term
Definition:Those disorders and diseases resulting from nutritional imbalances and by alterations in various aspects of metabolism.



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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 chr 8:60,505,843...60,545,677
Ensembl chr 8:60,505,932...60,545,677
JBrowse link
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00719 NCBI chr 6:23,072,173...23,132,986
Ensembl chr 6:23,072,173...23,132,986
JBrowse link
G Acat1 acetyl-Coenzyme A acetyltransferase 1 ISO SMPDB SMP:00719 NCBI chr 9:53,580,522...53,610,350
Ensembl chr 9:53,580,522...53,610,382
JBrowse link
G Aldh7a1 aldehyde dehydrogenase family 7, member A1 ISO SMPDB SMP:00719 NCBI chr18:56,524,722...56,572,991
Ensembl chr18:56,509,687...56,572,951
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00719 NCBI chr 2:5,896,219...5,942,829
Ensembl chr 2:5,896,115...5,942,792
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00719 NCBI chr12:31,331,562...31,351,471
Ensembl chr12:31,331,277...31,351,453
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) ISO SMPDB SMP:00719 NCBI chr12:85,110,822...85,134,091
Ensembl chr12:85,110,833...85,134,845
JBrowse link
G Echs1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial ISO SMPDB SMP:00719 NCBI chr 7:140,105,710...140,116,421
Ensembl chr 7:140,105,710...140,116,476
JBrowse link
G Gcdh glutaryl-Coenzyme A dehydrogenase ISO SMPDB SMP:00719 NCBI chr 8:84,886,387...84,893,921
Ensembl chr 8:84,886,393...84,893,921
JBrowse link
G Hadh hydroxyacyl-Coenzyme A dehydrogenase ISO SMPDB SMP:00719 NCBI chr 3:131,233,419...131,272,101
Ensembl chr 3:131,233,419...131,272,101
JBrowse link
G Pipox pipecolic acid oxidase ISO SMPDB SMP:00719 NCBI chr11:77,880,614...77,893,872
Ensembl chr11:77,880,615...77,894,096
JBrowse link
G Slc25a2 solute carrier family 25 (mitochondrial carrier, ornithine transporter) member 2 ISO SMPDB SMP:00719 NCBI chr18:37,637,378...37,638,723
Ensembl chr18:37,637,378...37,638,723
Ensembl chr18:37,637,378...37,638,723
JBrowse link
G Slc7a2 solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 ISO SMPDB SMP:00719 NCBI chr 8:40,862,341...40,922,070
Ensembl chr 8:40,862,396...40,922,308
JBrowse link
2-hydroxyglutaric 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:00136 NCBI chr16:8,513,429...8,621,568
Ensembl chr16:8,513,429...8,621,568
JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00136 NCBI chr 4:139,622,871...139,649,691
Ensembl chr 4:139,622,866...139,649,690
JBrowse link
G Aldh5a1 aldhehyde dehydrogenase family 5, subfamily A1 ISO SMPDB SMP:00136 NCBI chr13:24,907,579...24,937,661
Ensembl chr13:24,907,579...24,937,661
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00136 NCBI chr 5:31,054,620...31,078,479
Ensembl chr 5:31,054,780...31,078,479
JBrowse link
G Cps1 carbamoyl-phosphate synthetase 1 ISO SMPDB SMP:00136 NCBI chr 1:67,122,426...67,231,267
Ensembl chr 1:67,123,026...67,231,259
JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00136 NCBI chr 7:122,034,162...122,067,094
Ensembl chr 7:122,037,213...122,067,263
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00136 NCBI chr 2:70,561,303...70,602,014
Ensembl chr 2:70,553,072...70,602,014
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00136 NCBI chr 9:77,754,535...77,794,489
Ensembl chr 9:77,754,535...77,794,485
JBrowse link
G Gclm glutamate-cysteine ligase, modifier subunit ISO SMPDB SMP:00136 NCBI chr 3:122,245,487...122,267,215
Ensembl chr 3:122,245,557...122,270,732
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00136 NCBI chr 6:87,042,846...87,092,207
Ensembl chr 6:87,042,846...87,092,197
JBrowse link
G Gls2 glutaminase 2 (liver, mitochondrial) ISO SMPDB SMP:00136 NCBI chr10:128,194,635...128,210,004
Ensembl chr10:128,194,457...128,210,004
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00136 NCBI chr14:34,310,727...34,345,033
Ensembl chr14:34,310,727...34,345,265
JBrowse link
G Glul glutamate-ammonia ligase (glutamine synthetase) ISO SMPDB SMP:00136 NCBI chr 1:153,899,929...153,909,723
Ensembl chr 1:153,899,944...153,909,723
JBrowse link
G Gmps guanine monophosphate synthetase ISO SMPDB SMP:00136 NCBI chr 3:63,963,633...64,021,554
Ensembl chr 3:63,976,106...64,022,579
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00136 NCBI chr14:45,376,421...45,388,987
Ensembl chr14:45,376,334...45,404,913
JBrowse link
G Got2 glutamatic-oxaloacetic transaminase 2, mitochondrial ISO SMPDB SMP:00136 NCBI chr 8:95,864,133...95,888,401
Ensembl chr 8:95,864,134...95,888,547
JBrowse link
G Gpt glutamic pyruvic transaminase, soluble ISO SMPDB SMP:00136 NCBI chr15:76,696,726...76,699,675
Ensembl chr15:76,695,716...76,699,686
JBrowse link
G Gsr glutathione reductase ISO SMPDB SMP:00136 NCBI chr 8:33,653,238...33,698,162
Ensembl chr 8:33,652,523...33,698,163
JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00136 NCBI chr 2:155,563,181...155,592,810
Ensembl chr 2:155,563,181...155,592,810
JBrowse link
G Nadsyn1 NAD synthetase 1 ISO SMPDB SMP:00136 NCBI chr 7:143,795,589...143,822,862
Ensembl chr 7:143,795,584...143,822,849
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00136 NCBI chr 6:83,794,983...83,802,556
Ensembl chr 6:83,794,982...83,804,018
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00136 NCBI chr 5:76,913,249...76,951,578
Ensembl chr 5:76,913,249...76,951,578
JBrowse link
G Qars glutaminyl-tRNA synthetase ISO SMPDB SMP:00136 NCBI chr 9:108,508,005...108,515,941
Ensembl chr 9:108,507,706...108,515,941
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 chr16:8,513,429...8,621,568
Ensembl chr16:8,513,429...8,621,568
JBrowse link
G Acaa2 acetyl-Coenzyme A acyltransferase 2 (mitochondrial 3-oxoacyl-Coenzyme A thiolase) ISO SMPDB SMP:00138 NCBI chr18:74,779,212...74,806,207
Ensembl chr18:74,779,197...74,806,208
JBrowse link
G Acad8 acyl-Coenzyme A dehydrogenase family, member 8 ISO SMPDB SMP:00138 NCBI chr 9:26,974,138...26,999,571
Ensembl chr 9:26,974,135...26,999,566
JBrowse link
G Acadm acyl-Coenzyme A dehydrogenase, medium chain ISO SMPDB SMP:00138 NCBI chr 3:153,922,353...153,944,643
Ensembl chr 3:153,922,357...153,944,632
JBrowse link
G Acads acyl-Coenzyme A dehydrogenase, short chain ISO SMPDB SMP:00138 NCBI chr 5:115,110,299...115,119,346
Ensembl chr 5:115,110,299...115,119,346
JBrowse link
G Acadsb acyl-Coenzyme A dehydrogenase, short/branched chain ISO SMPDB SMP:00138 NCBI chr 7:131,410,601...131,446,211
Ensembl chr 7:131,410,601...131,448,944
JBrowse link
G Acat1 acetyl-Coenzyme A acetyltransferase 1 ISO SMPDB SMP:00138 NCBI chr 9:53,580,522...53,610,350
Ensembl chr 9:53,580,522...53,610,382
JBrowse link
G Aldh2 aldehyde dehydrogenase 2, mitochondrial ISO SMPDB SMP:00138 NCBI chr 5:121,566,027...121,593,824
Ensembl chr 5:121,566,027...121,593,824
JBrowse link
G Aldh6a1 aldehyde dehydrogenase family 6, subfamily A1 ISO SMPDB SMP:00138 NCBI chr12:84,430,717...84,451,024
Ensembl chr12:84,430,717...84,451,004
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00138 NCBI chr 1:58,029,809...58,106,410
Ensembl chr 1:58,029,931...58,106,413
JBrowse link
G Auh AU RNA binding protein/enoyl-coenzyme A hydratase ISO SMPDB SMP:00138 NCBI chr13:52,835,107...52,929,704
Ensembl chr13:52,835,119...52,929,681
JBrowse link
G Bcat1 branched chain aminotransferase 1, cytosolic ISO SMPDB SMP:00138 NCBI chr 6:144,993,835...145,076,157
Ensembl chr 6:144,993,835...145,076,184
JBrowse link
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide ISO SMPDB SMP:00138 NCBI chr 7:25,629,852...25,658,782
Ensembl chr 7:25,629,946...25,658,981
JBrowse link
G Bckdhb branched chain ketoacid dehydrogenase E1, beta polypeptide ISO SMPDB SMP:00138 NCBI chr 9:83,925,111...84,124,240
Ensembl chr 9:83,925,145...84,124,240
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00138 NCBI chr 3:116,513,070...116,549,981
Ensembl chr 3:116,513,070...116,549,981
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00138 NCBI chr12:31,331,562...31,351,471
Ensembl chr12:31,331,277...31,351,453
JBrowse link
G Echs1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial ISO SMPDB SMP:00138 NCBI chr 7:140,105,710...140,116,421
Ensembl chr 7:140,105,710...140,116,476
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00138 NCBI chr 6:52,546,230...52,640,300
Ensembl chr 6:52,546,228...52,640,389
JBrowse link
G Hibch 3-hydroxyisobutyryl-Coenzyme A hydrolase ISO SMPDB SMP:00138 NCBI chr 1:52,845,038...52,920,986
Ensembl chr 1:52,844,929...52,920,986
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-Coenzyme A lyase ISO SMPDB SMP:00138 NCBI chr 4:135,946,448...135,962,668
Ensembl chr 4:135,946,448...135,962,617
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 ISO SMPDB SMP:00138 NCBI chr 3:98,280,431...98,310,738
Ensembl chr 3:98,280,435...98,310,738
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00138 NCBI chr  X:152,001,896...152,004,442
Ensembl chr  X:152,001,845...152,004,442
JBrowse link
G Ivd isovaleryl coenzyme A dehydrogenase ISO SMPDB SMP:00138 NCBI chr 2:118,861,959...118,882,909
Ensembl chr 2:118,861,954...118,882,909
JBrowse link
G Mccc1 methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) ISO SMPDB SMP:00138 NCBI chr 3:35,956,292...36,000,694
Ensembl chr 3:35,959,312...36,000,678
JBrowse link
G Mccc2 methylcrotonoyl-Coenzyme A carboxylase 2 (beta) ISO SMPDB SMP:00138 NCBI chr13:99,948,532...100,015,639
Ensembl chr13:99,948,530...100,015,639
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00138 NCBI chr 7:64,392,622...64,412,121
Ensembl chr 7:64,392,607...64,412,125
JBrowse link
G Mmut methylmalonyl-Coenzyme A mutase ISO SMPDB SMP:00138 NCBI chr17:40,934,685...40,961,990
Ensembl chr17:40,934,685...40,961,988
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00138 NCBI chr15:4,026,428...4,155,344
Ensembl chr15:4,026,383...4,155,344
JBrowse link
G Pcca propionyl-Coenzyme A carboxylase, alpha polypeptide ISO SMPDB SMP:00138 NCBI chr14:122,484,365...122,889,944
Ensembl chr14:122,534,324...122,891,100
JBrowse link
G Pccb propionyl Coenzyme A carboxylase, beta polypeptide ISO SMPDB SMP:00138 NCBI chr 9:100,982,032...101,034,940
Ensembl chr 9:100,982,032...101,034,898
JBrowse link
3-hydroxyacyl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-Coenzyme A acyltransferase 2 (mitochondrial 3-oxoacyl-Coenzyme A thiolase) ISO SMPDB SMP:00568 NCBI chr18:74,779,212...74,806,207
Ensembl chr18:74,779,197...74,806,208
JBrowse link
G Acadl acyl-Coenzyme A dehydrogenase, long-chain ISO SMPDB SMP:00568 NCBI chr 1:66,830,839...66,863,309
Ensembl chr 1:66,830,839...66,863,277
JBrowse link
G Acads acyl-Coenzyme A dehydrogenase, short chain ISO SMPDB SMP:00568 NCBI chr 5:115,110,299...115,119,346
Ensembl chr 5:115,110,299...115,119,346
JBrowse link
G Acat1 acetyl-Coenzyme A acetyltransferase 1 ISO SMPDB SMP:00568 NCBI chr 9:53,580,522...53,610,350
Ensembl chr 9:53,580,522...53,610,382
JBrowse link
G Acss3 acyl-CoA synthetase short-chain family member 3 ISO SMPDB SMP:00568 NCBI chr10:106,933,514...107,123,761
Ensembl chr10:106,933,517...107,123,668
JBrowse link
G Echs1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial ISO SMPDB SMP:00568 NCBI chr 7:140,105,710...140,116,421
Ensembl chr 7:140,105,710...140,116,476
JBrowse link
G Hadh hydroxyacyl-Coenzyme A dehydrogenase ISO SMPDB SMP:00568 NCBI chr 3:131,233,419...131,272,101
Ensembl chr 3:131,233,419...131,272,101
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00568 NCBI chr  X:152,001,896...152,004,442
Ensembl chr  X:152,001,845...152,004,442
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 chr16:8,513,429...8,621,568
Ensembl chr16:8,513,429...8,621,568
JBrowse link
G Acaa2 acetyl-Coenzyme A acyltransferase 2 (mitochondrial 3-oxoacyl-Coenzyme A thiolase) ISO SMPDB SMP:00521 SMP:00522 NCBI chr18:74,779,212...74,806,207
Ensembl chr18:74,779,197...74,806,208
JBrowse link
G Acad8 acyl-Coenzyme A dehydrogenase family, member 8 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 9:26,974,138...26,999,571
Ensembl chr 9:26,974,135...26,999,566
JBrowse link
G Acadm acyl-Coenzyme A dehydrogenase, medium chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr 3:153,922,353...153,944,643
Ensembl chr 3:153,922,357...153,944,632
JBrowse link
G Acads acyl-Coenzyme A dehydrogenase, short chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr 5:115,110,299...115,119,346
Ensembl chr 5:115,110,299...115,119,346
JBrowse link
G Acadsb acyl-Coenzyme A dehydrogenase, short/branched chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr 7:131,410,601...131,446,211
Ensembl chr 7:131,410,601...131,448,944
JBrowse link
G Acat1 acetyl-Coenzyme A acetyltransferase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 9:53,580,522...53,610,350
Ensembl chr 9:53,580,522...53,610,382
JBrowse link
G Aldh2 aldehyde dehydrogenase 2, mitochondrial ISO SMPDB SMP:00521 SMP:00522 NCBI chr 5:121,566,027...121,593,824
Ensembl chr 5:121,566,027...121,593,824
JBrowse link
G Aldh6a1 aldehyde dehydrogenase family 6, subfamily A1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr12:84,430,717...84,451,024
Ensembl chr12:84,430,717...84,451,004
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:58,029,809...58,106,410
Ensembl chr 1:58,029,931...58,106,413
JBrowse link
G Auh AU RNA binding protein/enoyl-coenzyme A hydratase ISO SMPDB SMP:00521 SMP:00522 NCBI chr13:52,835,107...52,929,704
Ensembl chr13:52,835,119...52,929,681
JBrowse link
G Bcat1 branched chain aminotransferase 1, cytosolic ISO SMPDB SMP:00521 SMP:00522 NCBI chr 6:144,993,835...145,076,157
Ensembl chr 6:144,993,835...145,076,184
JBrowse link
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide ISO SMPDB SMP:00521 SMP:00522 NCBI chr 7:25,629,852...25,658,782
Ensembl chr 7:25,629,946...25,658,981
JBrowse link
G Bckdhb branched chain ketoacid dehydrogenase E1, beta polypeptide ISO SMPDB SMP:00521 SMP:00522 NCBI chr 9:83,925,111...84,124,240
Ensembl chr 9:83,925,145...84,124,240
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 3:116,513,070...116,549,981
Ensembl chr 3:116,513,070...116,549,981
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr12:31,331,562...31,351,471
Ensembl chr12:31,331,277...31,351,453
JBrowse link
G Echs1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial ISO SMPDB SMP:00521 SMP:00522 NCBI chr 7:140,105,710...140,116,421
Ensembl chr 7:140,105,710...140,116,476
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 6:52,546,230...52,640,300
Ensembl chr 6:52,546,228...52,640,389
JBrowse link
G Hibch 3-hydroxyisobutyryl-Coenzyme A hydrolase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:52,845,038...52,920,986
Ensembl chr 1:52,844,929...52,920,986
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-Coenzyme A lyase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 4:135,946,448...135,962,668
Ensembl chr 4:135,946,448...135,962,617
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 3:98,280,431...98,310,738
Ensembl chr 3:98,280,435...98,310,738
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00521 SMP:00522 NCBI chr  X:152,001,896...152,004,442
Ensembl chr  X:152,001,845...152,004,442
JBrowse link
G Ivd isovaleryl coenzyme A dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:118,861,959...118,882,909
Ensembl chr 2:118,861,954...118,882,909
JBrowse link
G Mccc1 methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) ISO SMPDB SMP:00521 SMP:00522 NCBI chr 3:35,956,292...36,000,694
Ensembl chr 3:35,959,312...36,000,678
JBrowse link
G Mccc2 methylcrotonoyl-Coenzyme A carboxylase 2 (beta) ISO SMPDB SMP:00521 SMP:00522 NCBI chr13:99,948,532...100,015,639
Ensembl chr13:99,948,530...100,015,639
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 7:64,392,622...64,412,121
Ensembl chr 7:64,392,607...64,412,125
JBrowse link
G Mmut methylmalonyl-Coenzyme A mutase ISO SMPDB SMP:00521 SMP:00522 NCBI chr17:40,934,685...40,961,990
Ensembl chr17:40,934,685...40,961,988
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr15:4,026,428...4,155,344
Ensembl chr15:4,026,383...4,155,344
JBrowse link
G Pcca propionyl-Coenzyme A carboxylase, alpha polypeptide ISO SMPDB SMP:00521 SMP:00522 NCBI chr14:122,484,365...122,889,944
Ensembl chr14:122,534,324...122,891,100
JBrowse link
G Pccb propionyl Coenzyme A carboxylase, beta polypeptide ISO SMPDB SMP:00521 SMP:00522 NCBI chr 9:100,982,032...101,034,940
Ensembl chr 9:100,982,032...101,034,898
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 chr16:8,513,429...8,621,568
Ensembl chr16:8,513,429...8,621,568
JBrowse link
G Acaa2 acetyl-Coenzyme A acyltransferase 2 (mitochondrial 3-oxoacyl-Coenzyme A thiolase) ISO SMPDB SMP:00237 NCBI chr18:74,779,212...74,806,207
Ensembl chr18:74,779,197...74,806,208
JBrowse link
G Acad8 acyl-Coenzyme A dehydrogenase family, member 8 ISO SMPDB SMP:00237 NCBI chr 9:26,974,138...26,999,571
Ensembl chr 9:26,974,135...26,999,566
JBrowse link
G Acadm acyl-Coenzyme A dehydrogenase, medium chain ISO SMPDB SMP:00237 NCBI chr 3:153,922,353...153,944,643
Ensembl chr 3:153,922,357...153,944,632
JBrowse link
G Acads acyl-Coenzyme A dehydrogenase, short chain ISO SMPDB SMP:00237 NCBI chr 5:115,110,299...115,119,346
Ensembl chr 5:115,110,299...115,119,346
JBrowse link
G Acadsb acyl-Coenzyme A dehydrogenase, short/branched chain ISO SMPDB SMP:00237 NCBI chr 7:131,410,601...131,446,211
Ensembl chr 7:131,410,601...131,448,944
JBrowse link
G Acat1 acetyl-Coenzyme A acetyltransferase 1 ISO SMPDB SMP:00237 NCBI chr 9:53,580,522...53,610,350
Ensembl chr 9:53,580,522...53,610,382
JBrowse link
G Aldh2 aldehyde dehydrogenase 2, mitochondrial ISO SMPDB SMP:00237 NCBI chr 5:121,566,027...121,593,824
Ensembl chr 5:121,566,027...121,593,824
JBrowse link
G Aldh6a1 aldehyde dehydrogenase family 6, subfamily A1 ISO SMPDB SMP:00237 NCBI chr12:84,430,717...84,451,024
Ensembl chr12:84,430,717...84,451,004
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00237 NCBI chr 1:58,029,809...58,106,410
Ensembl chr 1:58,029,931...58,106,413
JBrowse link
G Auh AU RNA binding protein/enoyl-coenzyme A hydratase ISO SMPDB SMP:00237 NCBI chr13:52,835,107...52,929,704
Ensembl chr13:52,835,119...52,929,681
JBrowse link
G Bcat1 branched chain aminotransferase 1, cytosolic ISO SMPDB SMP:00237 NCBI chr 6:144,993,835...145,076,157
Ensembl chr 6:144,993,835...145,076,184
JBrowse link
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide ISO SMPDB SMP:00237 NCBI chr 7:25,629,852...25,658,782
Ensembl chr 7:25,629,946...25,658,981
JBrowse link
G Bckdhb branched chain ketoacid dehydrogenase E1, beta polypeptide ISO SMPDB SMP:00237 NCBI chr 9:83,925,111...84,124,240
Ensembl chr 9:83,925,145...84,124,240
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00237 NCBI chr 3:116,513,070...116,549,981
Ensembl chr 3:116,513,070...116,549,981
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00237 NCBI chr12:31,331,562...31,351,471
Ensembl chr12:31,331,277...31,351,453
JBrowse link
G Echs1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial ISO SMPDB SMP:00237 NCBI chr 7:140,105,710...140,116,421
Ensembl chr 7:140,105,710...140,116,476
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00237 NCBI chr 6:52,546,230...52,640,300
Ensembl chr 6:52,546,228...52,640,389
JBrowse link
G Hibch 3-hydroxyisobutyryl-Coenzyme A hydrolase ISO SMPDB SMP:00237 NCBI chr 1:52,845,038...52,920,986
Ensembl chr 1:52,844,929...52,920,986
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-Coenzyme A lyase ISO SMPDB SMP:00237 NCBI chr 4:135,946,448...135,962,668
Ensembl chr 4:135,946,448...135,962,617
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 ISO SMPDB SMP:00237 NCBI chr 3:98,280,431...98,310,738
Ensembl chr 3:98,280,435...98,310,738
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00237 NCBI chr  X:152,001,896...152,004,442
Ensembl chr  X:152,001,845...152,004,442
JBrowse link
G Ivd isovaleryl coenzyme A dehydrogenase ISO SMPDB SMP:00237 NCBI chr 2:118,861,959...118,882,909
Ensembl chr 2:118,861,954...118,882,909
JBrowse link
G Mccc1 methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) ISO SMPDB SMP:00237 NCBI chr 3:35,956,292...36,000,694
Ensembl chr 3:35,959,312...36,000,678
JBrowse link
G Mccc2 methylcrotonoyl-Coenzyme A carboxylase 2 (beta) ISO SMPDB SMP:00237 NCBI chr13:99,948,532...100,015,639
Ensembl chr13:99,948,530...100,015,639
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00237 NCBI chr 7:64,392,622...64,412,121
Ensembl chr 7:64,392,607...64,412,125
JBrowse link
G Mmut methylmalonyl-Coenzyme A mutase ISO SMPDB SMP:00237 NCBI chr17:40,934,685...40,961,990
Ensembl chr17:40,934,685...40,961,988
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00237 NCBI chr15:4,026,428...4,155,344
Ensembl chr15:4,026,383...4,155,344
JBrowse link
G Pcca propionyl-Coenzyme A carboxylase, alpha polypeptide ISO SMPDB SMP:00237 NCBI chr14:122,484,365...122,889,944
Ensembl chr14:122,534,324...122,891,100
JBrowse link
G Pccb propionyl Coenzyme A carboxylase, beta polypeptide ISO SMPDB SMP:00237 NCBI chr 9:100,982,032...101,034,940
Ensembl chr 9:100,982,032...101,034,898
JBrowse link
3-methylglutaconic aciduria type 1 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00139 NCBI chr16:8,513,429...8,621,568
Ensembl chr16:8,513,429...8,621,568
JBrowse link
G Acaa2 acetyl-Coenzyme A acyltransferase 2 (mitochondrial 3-oxoacyl-Coenzyme A thiolase) ISO SMPDB SMP:00139 NCBI chr18:74,779,212...74,806,207
Ensembl chr18:74,779,197...74,806,208
JBrowse link
G Acad8 acyl-Coenzyme A dehydrogenase family, member 8 ISO SMPDB SMP:00139 NCBI chr 9:26,974,138...26,999,571
Ensembl chr 9:26,974,135...26,999,566
JBrowse link
G Acadm acyl-Coenzyme A dehydrogenase, medium chain ISO SMPDB SMP:00139 NCBI chr 3:153,922,353...153,944,643
Ensembl chr 3:153,922,357...153,944,632
JBrowse link
G Acads acyl-Coenzyme A dehydrogenase, short chain ISO SMPDB SMP:00139 NCBI chr 5:115,110,299...115,119,346
Ensembl chr 5:115,110,299...115,119,346
JBrowse link
G Acadsb acyl-Coenzyme A dehydrogenase, short/branched chain ISO SMPDB SMP:00139 NCBI chr 7:131,410,601...131,446,211
Ensembl chr 7:131,410,601...131,448,944
JBrowse link
G Acat1 acetyl-Coenzyme A acetyltransferase 1 ISO SMPDB SMP:00139 NCBI chr 9:53,580,522...53,610,350
Ensembl chr 9:53,580,522...53,610,382
JBrowse link
G Aldh2 aldehyde dehydrogenase 2, mitochondrial ISO SMPDB SMP:00139 NCBI chr 5:121,566,027...121,593,824
Ensembl chr 5:121,566,027...121,593,824
JBrowse link
G Aldh6a1 aldehyde dehydrogenase family 6, subfamily A1 ISO SMPDB SMP:00139 NCBI chr12:84,430,717...84,451,024
Ensembl chr12:84,430,717...84,451,004
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00139 NCBI chr 1:58,029,809...58,106,410
Ensembl chr 1:58,029,931...58,106,413
JBrowse link
G Auh AU RNA binding protein/enoyl-coenzyme A hydratase ISO SMPDB SMP:00139 NCBI chr13:52,835,107...52,929,704
Ensembl chr13:52,835,119...52,929,681
JBrowse link
G Bcat1 branched chain aminotransferase 1, cytosolic ISO SMPDB SMP:00139 NCBI chr 6:144,993,835...145,076,157
Ensembl chr 6:144,993,835...145,076,184
JBrowse link
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide ISO SMPDB SMP:00139 NCBI chr 7:25,629,852...25,658,782
Ensembl chr 7:25,629,946...25,658,981
JBrowse link
G Bckdhb branched chain ketoacid dehydrogenase E1, beta polypeptide ISO SMPDB SMP:00139 NCBI chr 9:83,925,111...84,124,240
Ensembl chr 9:83,925,145...84,124,240
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00139 NCBI chr 3:116,513,070...116,549,981
Ensembl chr 3:116,513,070...116,549,981
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00139 NCBI chr12:31,331,562...31,351,471
Ensembl chr12:31,331,277...31,351,453
JBrowse link
G Echs1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial ISO SMPDB SMP:00139 NCBI chr 7:140,105,710...140,116,421
Ensembl chr 7:140,105,710...140,116,476
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00139 NCBI chr 6:52,546,230...52,640,300
Ensembl chr 6:52,546,228...52,640,389
JBrowse link
G Hibch 3-hydroxyisobutyryl-Coenzyme A hydrolase ISO SMPDB SMP:00139 NCBI chr 1:52,845,038...52,920,986
Ensembl chr 1:52,844,929...52,920,986
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-Coenzyme A lyase ISO SMPDB SMP:00139 NCBI chr 4:135,946,448...135,962,668
Ensembl chr 4:135,946,448...135,962,617
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 ISO SMPDB SMP:00139 NCBI chr 3:98,280,431...98,310,738
Ensembl chr 3:98,280,435...98,310,738
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00139 NCBI chr  X:152,001,896...152,004,442
Ensembl chr  X:152,001,845...152,004,442
JBrowse link
G Ivd isovaleryl coenzyme A dehydrogenase ISO SMPDB SMP:00139 NCBI chr 2:118,861,959...118,882,909
Ensembl chr 2:118,861,954...118,882,909
JBrowse link
G Mccc1 methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) ISO SMPDB SMP:00139 NCBI chr 3:35,956,292...36,000,694
Ensembl chr 3:35,959,312...36,000,678
JBrowse link
G Mccc2 methylcrotonoyl-Coenzyme A carboxylase 2 (beta) ISO SMPDB SMP:00139 NCBI chr13:99,948,532...100,015,639
Ensembl chr13:99,948,530...100,015,639
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00139 NCBI chr 7:64,392,622...64,412,121
Ensembl chr 7:64,392,607...64,412,125
JBrowse link
G Mmut methylmalonyl-Coenzyme A mutase ISO SMPDB SMP:00139 NCBI chr17:40,934,685...40,961,990
Ensembl chr17:40,934,685...40,961,988
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00139 NCBI chr15:4,026,428...4,155,344
Ensembl chr15:4,026,383...4,155,344
JBrowse link
G Pcca propionyl-Coenzyme A carboxylase, alpha polypeptide ISO SMPDB SMP:00139 NCBI chr14:122,484,365...122,889,944
Ensembl chr14:122,534,324...122,891,100
JBrowse link
G Pccb propionyl Coenzyme A carboxylase, beta polypeptide ISO SMPDB SMP:00139 NCBI chr 9:100,982,032...101,034,940
Ensembl chr 9:100,982,032...101,034,898
JBrowse link
3-methylglutaconic aciduria type 3 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00140 NCBI chr16:8,513,429...8,621,568
Ensembl chr16:8,513,429...8,621,568
JBrowse link
G Acaa2 acetyl-Coenzyme A acyltransferase 2 (mitochondrial 3-oxoacyl-Coenzyme A thiolase) ISO SMPDB SMP:00140 NCBI chr18:74,779,212...74,806,207
Ensembl chr18:74,779,197...74,806,208
JBrowse link
G Acad8 acyl-Coenzyme A dehydrogenase family, member 8 ISO SMPDB SMP:00140 NCBI chr 9:26,974,138...26,999,571
Ensembl chr 9:26,974,135...26,999,566
JBrowse link
G Acadm acyl-Coenzyme A dehydrogenase, medium chain ISO SMPDB SMP:00140 NCBI chr 3:153,922,353...153,944,643
Ensembl chr 3:153,922,357...153,944,632
JBrowse link
G Acads acyl-Coenzyme A dehydrogenase, short chain ISO SMPDB SMP:00140 NCBI chr 5:115,110,299...115,119,346
Ensembl chr 5:115,110,299...115,119,346
JBrowse link
G Acadsb acyl-Coenzyme A dehydrogenase, short/branched chain ISO SMPDB SMP:00140 NCBI chr 7:131,410,601...131,446,211
Ensembl chr 7:131,410,601...131,448,944
JBrowse link
G Acat1 acetyl-Coenzyme A acetyltransferase 1 ISO SMPDB SMP:00140 NCBI chr 9:53,580,522...53,610,350
Ensembl chr 9:53,580,522...53,610,382
JBrowse link
G Aldh2 aldehyde dehydrogenase 2, mitochondrial ISO SMPDB SMP:00140 NCBI chr 5:121,566,027...121,593,824
Ensembl chr 5:121,566,027...121,593,824
JBrowse link
G Aldh6a1 aldehyde dehydrogenase family 6, subfamily A1 ISO SMPDB SMP:00140 NCBI chr12:84,430,717...84,451,024
Ensembl chr12:84,430,717...84,451,004
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00140 NCBI chr 1:58,029,809...58,106,410
Ensembl chr 1:58,029,931...58,106,413
JBrowse link
G Auh AU RNA binding protein/enoyl-coenzyme A hydratase ISO SMPDB SMP:00140 NCBI chr13:52,835,107...52,929,704
Ensembl chr13:52,835,119...52,929,681
JBrowse link
G Bcat1 branched chain aminotransferase 1, cytosolic ISO SMPDB SMP:00140 NCBI chr 6:144,993,835...145,076,157
Ensembl chr 6:144,993,835...145,076,184
JBrowse link
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide ISO SMPDB SMP:00140 NCBI chr 7:25,629,852...25,658,782
Ensembl chr 7:25,629,946...25,658,981
JBrowse link
G Bckdhb branched chain ketoacid dehydrogenase E1, beta polypeptide ISO SMPDB SMP:00140 NCBI chr 9:83,925,111...84,124,240
Ensembl chr 9:83,925,145...84,124,240
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00140 NCBI chr 3:116,513,070...116,549,981
Ensembl chr 3:116,513,070...116,549,981
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00140 NCBI chr12:31,331,562...31,351,471
Ensembl chr12:31,331,277...31,351,453
JBrowse link
G Echs1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial ISO SMPDB SMP:00140 NCBI chr 7:140,105,710...140,116,421
Ensembl chr 7:140,105,710...140,116,476
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00140 NCBI chr 6:52,546,230...52,640,300
Ensembl chr 6:52,546,228...52,640,389
JBrowse link
G Hibch 3-hydroxyisobutyryl-Coenzyme A hydrolase ISO SMPDB SMP:00140 NCBI chr 1:52,845,038...52,920,986
Ensembl chr 1:52,844,929...52,920,986
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-Coenzyme A lyase ISO SMPDB SMP:00140 NCBI chr 4:135,946,448...135,962,668
Ensembl chr 4:135,946,448...135,962,617
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 ISO SMPDB SMP:00140 NCBI chr 3:98,280,431...98,310,738
Ensembl chr 3:98,280,435...98,310,738
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00140 NCBI chr  X:152,001,896...152,004,442
Ensembl chr  X:152,001,845...152,004,442
JBrowse link
G Ivd isovaleryl coenzyme A dehydrogenase ISO SMPDB SMP:00140 NCBI chr 2:118,861,959...118,882,909
Ensembl chr 2:118,861,954...118,882,909
JBrowse link
G Mccc1 methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) ISO SMPDB SMP:00140 NCBI chr 3:35,956,292...36,000,694
Ensembl chr 3:35,959,312...36,000,678
JBrowse link
G Mccc2 methylcrotonoyl-Coenzyme A carboxylase 2 (beta) ISO SMPDB SMP:00140 NCBI chr13:99,948,532...100,015,639
Ensembl chr13:99,948,530...100,015,639
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00140 NCBI chr 7:64,392,622...64,412,121
Ensembl chr 7:64,392,607...64,412,125
JBrowse link
G Mmut methylmalonyl-Coenzyme A mutase ISO SMPDB SMP:00140 NCBI chr17:40,934,685...40,961,990
Ensembl chr17:40,934,685...40,961,988
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00140 NCBI chr15:4,026,428...4,155,344
Ensembl chr15:4,026,383...4,155,344
JBrowse link
G Pcca propionyl-Coenzyme A carboxylase, alpha polypeptide ISO SMPDB SMP:00140 NCBI chr14:122,484,365...122,889,944
Ensembl chr14:122,534,324...122,891,100
JBrowse link
G Pccb propionyl Coenzyme A carboxylase, beta polypeptide ISO SMPDB SMP:00140 NCBI chr 9:100,982,032...101,034,940
Ensembl chr 9:100,982,032...101,034,898
JBrowse link
acute intermittent porphyria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate, delta-, dehydratase ISO SMPDB SMP:00344 NCBI chr 4:62,505,984...62,520,063
Ensembl chr 4:62,509,169...62,519,918
JBrowse link
G Alas1 aminolevulinic acid synthase 1 ISO SMPDB SMP:00344 NCBI chr 9:106,233,455...106,247,954
Ensembl chr 9:106,233,455...106,248,654
JBrowse link
G Blvra biliverdin reductase A ISO SMPDB SMP:00344 NCBI chr 2:127,070,629...127,097,084
Ensembl chr 2:127,070,665...127,097,084
JBrowse link
G Cox10 heme A:farnesyltransferase cytochrome c oxidase assembly factor 10 ISO SMPDB SMP:00344 NCBI chr11:63,962,627...64,079,472
Ensembl chr11:63,962,627...64,079,468
JBrowse link
G Cox15 cytochrome c oxidase assembly protein 15 ISO SMPDB SMP:00344 NCBI chr19:43,733,254...43,753,000
Ensembl chr19:43,733,254...43,753,000
JBrowse link
G Cpox coproporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chr16:58,670,208...58,680,391
Ensembl chr16:58,670,292...58,717,636
JBrowse link
G Fech ferrochelatase ISO SMPDB SMP:00344 NCBI chr18:64,456,542...64,489,098
Ensembl chr18:64,452,914...64,490,251
JBrowse link
G Ftmt ferritin mitochondrial ISO SMPDB SMP:00344 NCBI chr18:52,331,536...52,332,996
Ensembl chr18:52,331,549...52,332,996
JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00344 NCBI chr 5:129,989,011...130,003,049
Ensembl chr 5:129,989,011...130,003,049
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO SMPDB SMP:00344 NCBI chr 9:44,336,348...44,344,228
Ensembl chr 9:44,336,339...44,344,228
JBrowse link
G Hmox1 heme oxygenase 1 ISO SMPDB SMP:00344 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Ppox protoporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chr 1:171,276,991...171,281,193
Ensembl chr 1:171,275,990...171,281,186
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO SMPDB SMP:00344 NCBI chr 4:116,989,965...116,994,436
Ensembl chr 4:116,989,965...116,994,413
JBrowse link
G Uros uroporphyrinogen III synthase ISO SMPDB SMP:00344 NCBI chr 7:133,686,142...133,710,467
Ensembl chr 7:133,686,243...133,710,072
JBrowse link
adenine phoshoribosyltransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00535 NCBI chr 2:163,726,571...163,750,239
Ensembl chr 2:163,726,584...163,750,239
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00535 NCBI chr 1:165,483,518...165,576,778
Ensembl chr 1:165,485,183...165,576,774
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00535 NCBI chr15:80,948,490...80,970,947
Ensembl chr15:80,948,490...80,970,946
JBrowse link
G Adss adenylosuccinate synthetase, non muscle ISO SMPDB SMP:00535 NCBI chr 1:177,763,176...177,796,695
Ensembl chr 1:177,762,962...177,796,511
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00535 NCBI chr 2:32,621,758...32,635,058
Ensembl chr 2:32,621,758...32,635,058
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00535 NCBI chr 3:103,073,897...103,099,720
Ensembl chr 3:103,074,014...103,099,720
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00535 NCBI chr 8:122,574,637...122,576,907
Ensembl chr 8:122,574,635...122,576,909
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00535 NCBI chr19:32,672,558...32,739,787
Ensembl chr19:32,671,638...32,739,786
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00535 NCBI chr 1:71,557,156...71,579,403
Ensembl chr 1:71,557,150...71,579,631
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00535 NCBI chr 6:83,480,214...83,506,969
Ensembl chr 6:83,480,217...83,506,969
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00535 NCBI chr12:84,373,875...84,409,029
Ensembl chr12:84,373,857...84,409,029
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00535 NCBI chr 2:25,079,296...25,085,719
Ensembl chr 2:25,080,304...25,085,716
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase ISO SMPDB SMP:00535 NCBI chr16:91,621,395...91,646,972
Ensembl chr16:91,621,186...91,646,952
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00535 NCBI chr19:21,391,307...21,472,661
Ensembl chr19:21,391,307...21,473,445
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00535 NCBI chr13:45,507,428...45,546,386
Ensembl chr13:45,507,444...45,553,800
JBrowse link
G Gmps guanine monophosphate synthetase ISO SMPDB SMP:00535 NCBI chr 3:63,963,633...64,021,554
Ensembl chr 3:63,976,106...64,022,579
JBrowse link
G Gucy1a2 guanylate cyclase 1, soluble, alpha 2 ISO SMPDB SMP:00535 NCBI chr 9:3,532,349...3,905,791
Ensembl chr 9:3,532,778...3,894,736
JBrowse link
G Gucy1b1 guanylate cyclase 1, soluble, beta 1 ISO SMPDB SMP:00535 NCBI chr 3:82,032,004...82,074,711
Ensembl chr 3:82,032,006...82,074,689
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00535 NCBI chr11:59,183,855...59,192,207
Ensembl chr11:59,183,875...59,192,212
JBrowse link
G Hprt hypoxanthine guanine phosphoribosyl transferase ISO SMPDB SMP:00535 NCBI chr  X:52,988,078...53,021,660
Ensembl chr  X:52,988,137...53,021,659
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00535 NCBI chr 6:29,200,436...29,216,364
Ensembl chr 6:29,200,434...29,216,364
JBrowse link
G Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase) ISO SMPDB SMP:00535 NCBI chr 2:130,664,692...130,681,614
Ensembl chr 2:130,667,610...130,681,614
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00535 NCBI chr 9:109,832,722...109,842,974
Ensembl chr 9:109,832,749...109,843,116
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00535 NCBI chr19:46,885,390...47,015,174
Ensembl chr19:46,883,317...47,015,153
JBrowse link
G Nudt2 nudix (nucleoside diphosphate linked moiety X)-type motif 2 ISO SMPDB SMP:00535 NCBI chr 4:41,465,081...41,480,926
Ensembl chr 4:41,465,151...41,480,926
JBrowse link
G Nudt5 nudix (nucleoside diphosphate linked moiety X)-type motif 5 ISO SMPDB SMP:00535 NCBI chr 2:5,845,034...5,870,820
Ensembl chr 2:5,845,019...5,871,895
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoribosylaminoimidazole, succinocarboxamide synthetase ISO SMPDB SMP:00535 NCBI chr 5:76,951,302...76,967,509
Ensembl chr 5:76,951,307...76,967,509
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00535 NCBI chr17:8,525,187...8,986,648
Ensembl chr17:8,525,372...8,986,648
JBrowse link
G Pde4d phosphodiesterase 4D, cAMP specific ISO SMPDB SMP:00535 NCBI chr13:108,654,177...109,955,969
Ensembl chr13:108,449,948...109,953,461
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) ISO SMPDB SMP:00535 NCBI chr11:68,985,701...69,008,460
Ensembl chr11:68,985,697...69,008,460
JBrowse link
G Pnp2 purine-nucleoside phosphorylase 2 ISO SMPDB SMP:00535 NCBI chr14:50,956,141...50,964,751
Ensembl chr14:50,955,992...50,964,749
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00535 NCBI chr 5:76,913,249...76,951,578
Ensembl chr 5:76,913,249...76,951,578
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00535 NCBI chr12:34,984,761...34,986,436
Ensembl chr12:34,984,761...34,986,436
JBrowse link
G Rrm1 ribonucleotide reductase M1 ISO SMPDB SMP:00535 NCBI chr 7:102,441,695...102,469,771
Ensembl chr 7:102,441,695...102,469,771
JBrowse link
G Rrm2 ribonucleotide reductase M2 ISO SMPDB SMP:00535 NCBI chr12:24,708,254...24,714,146
Ensembl chr12:24,708,241...24,714,146
JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00535 NCBI chr 4:57,943,373...57,956,411
Ensembl chr 4:57,943,373...57,956,411
JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00535 NCBI chr17:73,883,895...73,950,397
Ensembl chr17:73,883,895...73,950,196
JBrowse link
adenosine monophosphate deaminase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00537 NCBI chr 2:163,726,571...163,750,239
Ensembl chr 2:163,726,584...163,750,239
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00537 NCBI chr 1:165,483,518...165,576,778
Ensembl chr 1:165,485,183...165,576,774
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00537 NCBI chr15:80,948,490...80,970,947
Ensembl chr15:80,948,490...80,970,946
JBrowse link
G Adss adenylosuccinate synthetase, non muscle ISO SMPDB SMP:00537 NCBI chr 1:177,763,176...177,796,695
Ensembl chr 1:177,762,962...177,796,511
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00537 NCBI chr 2:32,621,758...32,635,058
Ensembl chr 2:32,621,758...32,635,058
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00537 NCBI chr 3:103,073,897...103,099,720
Ensembl chr 3:103,074,014...103,099,720
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00537 NCBI chr 8:122,574,637...122,576,907
Ensembl chr 8:122,574,635...122,576,909
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00537 NCBI chr19:32,672,558...32,739,787
Ensembl chr19:32,671,638...32,739,786
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00537 NCBI chr 1:71,557,156...71,579,403
Ensembl chr 1:71,557,150...71,579,631
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00537 NCBI chr 6:83,480,214...83,506,969
Ensembl chr 6:83,480,217...83,506,969
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00537 NCBI chr12:84,373,875...84,409,029
Ensembl chr12:84,373,857...84,409,029
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00537 NCBI chr 2:25,079,296...25,085,719
Ensembl chr 2:25,080,304...25,085,716
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase ISO SMPDB SMP:00537 NCBI chr16:91,621,395...91,646,972
Ensembl chr16:91,621,186...91,646,952
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00537 NCBI chr19:21,391,307...21,472,661
Ensembl chr19:21,391,307...21,473,445
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00537 NCBI chr13:45,507,428...45,546,386
Ensembl chr13:45,507,444...45,553,800
JBrowse link
G Gmps guanine monophosphate synthetase ISO SMPDB SMP:00537 NCBI chr 3:63,963,633...64,021,554
Ensembl chr 3:63,976,106...64,022,579
JBrowse link
G Gucy1a2 guanylate cyclase 1, soluble, alpha 2 ISO SMPDB SMP:00537 NCBI chr 9:3,532,349...3,905,791
Ensembl chr 9:3,532,778...3,894,736
JBrowse link
G Gucy1b1 guanylate cyclase 1, soluble, beta 1 ISO SMPDB SMP:00537 NCBI chr 3:82,032,004...82,074,711
Ensembl chr 3:82,032,006...82,074,689
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00537 NCBI chr11:59,183,855...59,192,207
Ensembl chr11:59,183,875...59,192,212
JBrowse link
G Hprt hypoxanthine guanine phosphoribosyl transferase ISO SMPDB SMP:00537 NCBI chr  X:52,988,078...53,021,660
Ensembl chr  X:52,988,137...53,021,659
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00537 NCBI chr 6:29,200,436...29,216,364
Ensembl chr 6:29,200,434...29,216,364
JBrowse link
G Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase) ISO SMPDB SMP:00537 NCBI chr 2:130,664,692...130,681,614
Ensembl chr 2:130,667,610...130,681,614
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00537 NCBI chr 9:109,832,722...109,842,974
Ensembl chr 9:109,832,749...109,843,116
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00537 NCBI chr19:46,885,390...47,015,174
Ensembl chr19:46,883,317...47,015,153
JBrowse link
G Nudt2 nudix (nucleoside diphosphate linked moiety X)-type motif 2 ISO SMPDB SMP:00537 NCBI chr 4:41,465,081...41,480,926
Ensembl chr 4:41,465,151...41,480,926
JBrowse link
G Nudt5 nudix (nucleoside diphosphate linked moiety X)-type motif 5 ISO SMPDB SMP:00537 NCBI chr 2:5,845,034...5,870,820
Ensembl chr 2:5,845,019...5,871,895
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoribosylaminoimidazole, succinocarboxamide synthetase ISO SMPDB SMP:00537 NCBI chr 5:76,951,302...76,967,509
Ensembl chr 5:76,951,307...76,967,509
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00537 NCBI chr17:8,525,187...8,986,648
Ensembl chr17:8,525,372...8,986,648
JBrowse link
G Pde4d phosphodiesterase 4D, cAMP specific ISO SMPDB SMP:00537 NCBI chr13:108,654,177...109,955,969
Ensembl chr13:108,449,948...109,953,461
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) ISO SMPDB SMP:00537 NCBI chr11:68,985,701...69,008,460
Ensembl chr11:68,985,697...69,008,460
JBrowse link
G Pnp2 purine-nucleoside phosphorylase 2 ISO SMPDB SMP:00537 NCBI chr14:50,956,141...50,964,751
Ensembl chr14:50,955,992...50,964,749
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00537 NCBI chr 5:76,913,249...76,951,578
Ensembl chr 5:76,913,249...76,951,578
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00537 NCBI chr12:34,984,761...34,986,436
Ensembl chr12:34,984,761...34,986,436
JBrowse link
G Rrm1 ribonucleotide reductase M1 ISO SMPDB SMP:00537 NCBI chr 7:102,441,695...102,469,771
Ensembl chr 7:102,441,695...102,469,771
JBrowse link
G Rrm2 ribonucleotide reductase M2 ISO SMPDB SMP:00537 NCBI chr12:24,708,254...24,714,146
Ensembl chr12:24,708,241...24,714,146
JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00537 NCBI chr 4:57,943,373...57,956,411
Ensembl chr 4:57,943,373...57,956,411
JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00537 NCBI chr17:73,883,895...73,950,397
Ensembl chr17:73,883,895...73,950,196
JBrowse link
adenylosuccinate lyase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00167 NCBI chr 2:163,726,571...163,750,239
Ensembl chr 2:163,726,584...163,750,239
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00167 NCBI chr 1:165,483,518...165,576,778
Ensembl chr 1:165,485,183...165,576,774
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00167 NCBI chr15:80,948,490...80,970,947
Ensembl chr15:80,948,490...80,970,946
JBrowse link
G Adss adenylosuccinate synthetase, non muscle ISO SMPDB SMP:00167 NCBI chr 1:177,763,176...177,796,695
Ensembl chr 1:177,762,962...177,796,511
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00167 NCBI chr 2:32,621,758...32,635,058
Ensembl chr 2:32,621,758...32,635,058
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00167 NCBI chr 3:103,073,897...103,099,720
Ensembl chr 3:103,074,014...103,099,720
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00167 NCBI chr 8:122,574,637...122,576,907
Ensembl chr 8:122,574,635...122,576,909
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00167 NCBI chr19:32,672,558...32,739,787
Ensembl chr19:32,671,638...32,739,786
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00167 NCBI chr 1:71,557,156...71,579,403
Ensembl chr 1:71,557,150...71,579,631
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00167 NCBI chr 6:83,480,214...83,506,969
Ensembl chr 6:83,480,217...83,506,969
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00167 NCBI chr12:84,373,875...84,409,029
Ensembl chr12:84,373,857...84,409,029
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00167 NCBI chr 2:25,079,296...25,085,719
Ensembl chr 2:25,080,304...25,085,716
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase ISO SMPDB SMP:00167 NCBI chr16:91,621,395...91,646,972
Ensembl chr16:91,621,186...91,646,952
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00167 NCBI chr19:21,391,307...21,472,661
Ensembl chr19:21,391,307...21,473,445
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00167 NCBI chr13:45,507,428...45,546,386
Ensembl chr13:45,507,444...45,553,800
JBrowse link
G Gmps guanine monophosphate synthetase ISO SMPDB SMP:00167 NCBI chr 3:63,963,633...64,021,554
Ensembl chr 3:63,976,106...64,022,579
JBrowse link
G Gucy1a2 guanylate cyclase 1, soluble, alpha 2 ISO SMPDB SMP:00167 NCBI chr 9:3,532,349...3,905,791
Ensembl chr 9:3,532,778...3,894,736
JBrowse link
G Gucy1b1 guanylate cyclase 1, soluble, beta 1 ISO SMPDB SMP:00167 NCBI chr 3:82,032,004...82,074,711
Ensembl chr 3:82,032,006...82,074,689
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00167 NCBI chr11:59,183,855...59,192,207
Ensembl chr11:59,183,875...59,192,212
JBrowse link
G Hprt hypoxanthine guanine phosphoribosyl transferase ISO SMPDB SMP:00167 NCBI chr  X:52,988,078...53,021,660
Ensembl chr  X:52,988,137...53,021,659
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00167 NCBI chr 6:29,200,436...29,216,364
Ensembl chr 6:29,200,434...29,216,364
JBrowse link
G Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase) ISO SMPDB SMP:00167 NCBI chr 2:130,664,692...130,681,614
Ensembl chr 2:130,667,610...130,681,614
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00167 NCBI chr 9:109,832,722...109,842,974
Ensembl chr 9:109,832,749...109,843,116
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00167 NCBI chr19:46,885,390...47,015,174
Ensembl chr19:46,883,317...47,015,153
JBrowse link
G Nudt2 nudix (nucleoside diphosphate linked moiety X)-type motif 2 ISO SMPDB SMP:00167 NCBI chr 4:41,465,081...41,480,926
Ensembl chr 4:41,465,151...41,480,926
JBrowse link
G Nudt5 nudix (nucleoside diphosphate linked moiety X)-type motif 5 ISO SMPDB SMP:00167 NCBI chr 2:5,845,034...5,870,820
Ensembl chr 2:5,845,019...5,871,895
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoribosylaminoimidazole, succinocarboxamide synthetase ISO SMPDB SMP:00167 NCBI chr 5:76,951,302...76,967,509
Ensembl chr 5:76,951,307...76,967,509
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00167 NCBI chr17:8,525,187...8,986,648
Ensembl chr17:8,525,372...8,986,648
JBrowse link
G Pde4d phosphodiesterase 4D, cAMP specific ISO SMPDB SMP:00167 NCBI chr13:108,654,177...109,955,969
Ensembl chr13:108,449,948...109,953,461
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) ISO SMPDB SMP:00167 NCBI chr11:68,985,701...69,008,460
Ensembl chr11:68,985,697...69,008,460
JBrowse link
G Pnp2 purine-nucleoside phosphorylase 2 ISO SMPDB SMP:00167 NCBI chr14:50,956,141...50,964,751
Ensembl chr14:50,955,992...50,964,749
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00167 NCBI chr 5:76,913,249...76,951,578
Ensembl chr 5:76,913,249...76,951,578
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00167 NCBI chr12:34,984,761...34,986,436
Ensembl chr12:34,984,761...34,986,436
JBrowse link
G Rrm1 ribonucleotide reductase M1 ISO SMPDB SMP:00167 NCBI chr 7:102,441,695...102,469,771
Ensembl chr 7:102,441,695...102,469,771
JBrowse link
G Rrm2 ribonucleotide reductase M2 ISO SMPDB SMP:00167 NCBI chr12:24,708,254...24,714,146
Ensembl chr12:24,708,241...24,714,146
JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00167 NCBI chr 4:57,943,373...57,956,411
Ensembl chr 4:57,943,373...57,956,411
JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00167 NCBI chr17:73,883,895...73,950,397
Ensembl chr17:73,883,895...73,950,196
JBrowse link
adrenoleukodystrophy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP-binding cassette, sub-family D (ALD), member 1 ISO SMPDB SMP:00516 NCBI chr  X:73,716,597...73,738,534
Ensembl chr  X:73,716,597...73,738,534
JBrowse link
G Abcd2 ATP-binding cassette, sub-family D (ALD), member 2 ISO SMPDB SMP:00516 NCBI chr15:91,145,871...91,192,007
Ensembl chr15:91,145,871...91,191,799
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00516 NCBI chr 8:46,471,037...46,536,051
Ensembl chr 8:46,471,037...46,536,051
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00516 NCBI chr 4:107,903,982...107,923,589
Ensembl chr 4:107,903,981...107,923,610
JBrowse link
G Crat carnitine acetyltransferase ISO SMPDB SMP:00516 NCBI chr 2:30,400,476...30,416,017
Ensembl chr 2:30,400,471...30,415,813
JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00516 NCBI chr 5:8,966,033...8,997,146
Ensembl chr 5:8,966,033...8,997,324
JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00516 NCBI chr 8:3,457,105...3,467,648
Ensembl chr 8:3,457,105...3,467,680
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00516 NCBI chr11:23,646,843...23,665,883
Ensembl chr11:23,646,479...23,665,959
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00516 NCBI chr 4:148,960,535...149,099,843
Ensembl chr 4:148,960,535...149,099,876
JBrowse link
G Slc25a20 solute carrier family 25 (mitochondrial carnitine/acylcarnitine translocase), member 20 ISO SMPDB SMP:00516 NCBI chr 9:108,662,136...108,684,642
Ensembl chr 9:108,662,088...108,684,641
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 4:139,622,871...139,649,691
Ensembl chr 4:139,622,866...139,649,690
JBrowse link
G Arg1 arginase, liver ISO SMPDB SMP:00362 SMP:00507 NCBI chr10:24,915,207...24,927,470
Ensembl chr10:24,915,221...24,927,484
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 5:130,011,258...130,024,381
Ensembl chr 5:130,011,258...130,029,247
JBrowse link
G Ass1 argininosuccinate synthetase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 2:31,470,270...31,520,670
Ensembl chr 2:31,470,207...31,520,672
JBrowse link
G Ckb creatine kinase, brain ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:111,669,355...111,672,338
Ensembl chr12:111,669,361...111,672,338
JBrowse link
G Cps1 carbamoyl-phosphate synthetase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:67,122,426...67,231,267
Ensembl chr 1:67,123,026...67,231,259
JBrowse link
G Dao D-amino acid oxidase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 5:113,999,635...114,025,675
Ensembl chr 5:114,003,703...114,025,682
JBrowse link
G Eprs glutamyl-prolyl-tRNA synthetase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:185,361,417...185,428,360
Ensembl chr 1:185,363,044...185,428,360
JBrowse link
G Gamt guanidinoacetate methyltransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr10:80,258,151...80,261,025
Ensembl chr10:80,258,151...80,261,012
JBrowse link
G Gatm glycine amidinotransferase (L-arginine:glycine amidinotransferase) ISO SMPDB SMP:00362 SMP:00507 NCBI chr 2:122,594,473...122,611,277
Ensembl chr 2:122,594,467...122,611,303
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr14:34,310,727...34,345,033
Ensembl chr14:34,310,727...34,345,265
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1, soluble ISO SMPDB SMP:00362 SMP:00507 NCBI chr19:43,499,752...43,524,605
Ensembl chr19:43,499,752...43,524,605
JBrowse link
G Nos1 nitric oxide synthase 1, neuronal ISO SMPDB SMP:00362 SMP:00507 NCBI chr 5:117,866,839...117,958,840
Ensembl chr 5:117,781,032...117,958,840
JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 7:132,557,475...132,576,398
Ensembl chr 7:132,557,478...132,576,398
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00362 SMP:00507 NCBI chr  X:10,252,230...10,321,024
Ensembl chr  X:10,252,305...10,321,024
JBrowse link
G P4ha3 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III ISO SMPDB SMP:00362 SMP:00507 NCBI chr 7:100,285,489...100,319,701
Ensembl chr 7:100,285,520...100,319,699
JBrowse link
G Prodh proline dehydrogenase ISO SMPDB SMP:00362 SMP:00507 NCBI chr16:18,071,726...18,089,283
Ensembl chr16:18,060,357...18,090,203
JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase family, member 2 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:180,904,274...180,908,088
Ensembl chr 1:180,904,293...180,908,088
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00362 SMP:00507 NCBI chr 4:34,614,957...34,660,167
Ensembl chr 4:34,614,957...34,660,167
JBrowse link
G Slc25a15 solute carrier family 25 (mitochondrial carrier ornithine transporter), member 15 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 8:22,375,550...22,398,621
Ensembl chr 8:22,375,551...22,398,597
JBrowse link
AICA-ribosuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00168 NCBI chr 2:163,726,571...163,750,239
Ensembl chr 2:163,726,584...163,750,239
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00168 NCBI chr 1:165,483,518...165,576,778
Ensembl chr 1:165,485,183...165,576,774
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00168 NCBI chr15:80,948,490...80,970,947
Ensembl chr15:80,948,490...80,970,946
JBrowse link
G Adss adenylosuccinate synthetase, non muscle ISO SMPDB SMP:00168 NCBI chr 1:177,763,176...177,796,695
Ensembl chr 1:177,762,962...177,796,511
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00168 NCBI chr 2:32,621,758...32,635,058
Ensembl chr 2:32,621,758...32,635,058
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00168 NCBI chr 3:103,073,897...103,099,720
Ensembl chr 3:103,074,014...103,099,720
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00168 NCBI chr 8:122,574,637...122,576,907
Ensembl chr 8:122,574,635...122,576,909
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00168 NCBI chr19:32,672,558...32,739,787
Ensembl chr19:32,671,638...32,739,786
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00168 NCBI chr 1:71,557,156...71,579,403
Ensembl chr 1:71,557,150...71,579,631
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00168 NCBI chr 6:83,480,214...83,506,969
Ensembl chr 6:83,480,217...83,506,969
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00168 NCBI chr12:84,373,875...84,409,029
Ensembl chr12:84,373,857...84,409,029
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00168 NCBI chr 2:25,079,296...25,085,719
Ensembl chr 2:25,080,304...25,085,716
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase ISO SMPDB SMP:00168 NCBI chr16:91,621,395...91,646,972
Ensembl chr16:91,621,186...91,646,952
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00168 NCBI chr19:21,391,307...21,472,661
Ensembl chr19:21,391,307...21,473,445
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00168 NCBI chr13:45,507,428...45,546,386
Ensembl chr13:45,507,444...45,553,800
JBrowse link
G Gmps guanine monophosphate synthetase ISO SMPDB SMP:00168 NCBI chr 3:63,963,633...64,021,554
Ensembl chr 3:63,976,106...64,022,579
JBrowse link
G Gucy1a2 guanylate cyclase 1, soluble, alpha 2 ISO SMPDB SMP:00168 NCBI chr 9:3,532,349...3,905,791
Ensembl chr 9:3,532,778...3,894,736
JBrowse link
G Gucy1b1 guanylate cyclase 1, soluble, beta 1 ISO SMPDB SMP:00168 NCBI chr 3:82,032,004...82,074,711
Ensembl chr 3:82,032,006...82,074,689
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00168 NCBI chr11:59,183,855...59,192,207
Ensembl chr11:59,183,875...59,192,212
JBrowse link
G Hprt hypoxanthine guanine phosphoribosyl transferase ISO SMPDB SMP:00168 NCBI chr  X:52,988,078...53,021,660
Ensembl chr  X:52,988,137...53,021,659
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00168 NCBI chr 6:29,200,436...29,216,364
Ensembl chr 6:29,200,434...29,216,364
JBrowse link
G Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase) ISO SMPDB SMP:00168 NCBI chr 2:130,664,692...130,681,614
Ensembl chr 2:130,667,610...130,681,614
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00168 NCBI chr 9:109,832,722...109,842,974
Ensembl chr 9:109,832,749...109,843,116
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00168 NCBI chr19:46,885,390...47,015,174
Ensembl chr19:46,883,317...47,015,153
JBrowse link
G Nudt2 nudix (nucleoside diphosphate linked moiety X)-type motif 2 ISO SMPDB SMP:00168 NCBI chr 4:41,465,081...41,480,926
Ensembl chr 4:41,465,151...41,480,926
JBrowse link
G Nudt5 nudix (nucleoside diphosphate linked moiety X)-type motif 5 ISO SMPDB SMP:00168 NCBI chr 2:5,845,034...5,870,820
Ensembl chr 2:5,845,019...5,871,895
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoribosylaminoimidazole, succinocarboxamide synthetase ISO SMPDB SMP:00168 NCBI chr 5:76,951,302...76,967,509
Ensembl chr 5:76,951,307...76,967,509
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00168 NCBI chr17:8,525,187...8,986,648
Ensembl chr17:8,525,372...8,986,648
JBrowse link
G Pde4d phosphodiesterase 4D, cAMP specific ISO SMPDB SMP:00168 NCBI chr13:108,654,177...109,955,969
Ensembl chr13:108,449,948...109,953,461
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) ISO SMPDB SMP:00168 NCBI chr11:68,985,701...69,008,460
Ensembl chr11:68,985,697...69,008,460
JBrowse link
G Pnp2 purine-nucleoside phosphorylase 2 ISO SMPDB SMP:00168 NCBI chr14:50,956,141...50,964,751
Ensembl chr14:50,955,992...50,964,749
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00168 NCBI chr 5:76,913,249...76,951,578
Ensembl chr 5:76,913,249...76,951,578
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00168 NCBI chr12:34,984,761...34,986,436
Ensembl chr12:34,984,761...34,986,436
JBrowse link
G Rrm1 ribonucleotide reductase M1 ISO SMPDB SMP:00168 NCBI chr 7:102,441,695...102,469,771
Ensembl chr 7:102,441,695...102,469,771
JBrowse link
G Rrm2 ribonucleotide reductase M2 ISO SMPDB SMP:00168 NCBI chr12:24,708,254...24,714,146
Ensembl chr12:24,708,241...24,714,146
JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00168 NCBI chr 4:57,943,373...57,956,411
Ensembl chr 4:57,943,373...57,956,411
JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00168 NCBI chr17:73,883,895...73,950,397
Ensembl chr17:73,883,895...73,950,196
JBrowse link
alkaptonuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a1 aldehyde dehydrogenase family 3, subfamily A1 ISO SMPDB SMP:00169 NCBI chr11:61,208,510...61,218,418
Ensembl chr11:61,207,537...61,218,421
JBrowse link
G Aoc1 amine oxidase, copper-containing 1 ISO SMPDB SMP:00169 NCBI chr 6:48,895,255...48,909,188
Ensembl chr 6:48,872,896...48,909,188
JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00169 NCBI chr16:18,406,882...18,426,716
Ensembl chr16:18,406,886...18,426,852
JBrowse link
G Dbh dopamine beta hydroxylase ISO SMPDB SMP:00169 NCBI chr 2:27,165,507...27,183,204
Ensembl chr 2:27,165,233...27,183,200
JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00169 NCBI chr14:118,012,790...118,052,246
Ensembl chr14:118,012,790...118,052,244
JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00169 NCBI chr11:11,814,101...11,898,144
Ensembl chr11:11,814,101...11,898,144
JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00169 NCBI chr 7:84,585,159...84,605,942
Ensembl chr 7:84,585,159...84,606,722
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1, soluble ISO SMPDB SMP:00169 NCBI chr19:43,499,752...43,524,605
Ensembl chr19:43,499,752...43,524,605
JBrowse link
G Gstz1 glutathione transferase zeta 1 (maleylacetoacetate isomerase) ISO SMPDB SMP:00169 NCBI chr12:87,147,161...87,164,723
Ensembl chr12:87,147,165...87,164,723
JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00169 NCBI chr17:83,831,348...83,848,981
Ensembl chr17:83,831,156...83,847,963
JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00169 NCBI chr16:37,579,742...37,632,026
Ensembl chr16:37,580,153...37,632,020
JBrowse link
G Hpd 4-hydroxyphenylpyruvic acid dioxygenase ISO SMPDB SMP:00169 NCBI chr 5:123,171,807...123,182,723
Ensembl chr 5:123,171,807...123,182,727
JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00169 NCBI chr  X:16,619,698...16,687,812
Ensembl chr  X:16,619,698...16,687,818
JBrowse link
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) ISO SMPDB SMP:00169 NCBI chr10:75,859,353...75,860,277
Ensembl chr10:75,859,353...75,860,240
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00169 NCBI chr 8:109,986,078...109,999,804
Ensembl chr 8:109,990,437...109,999,803
JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00169 NCBI chr 7:87,424,771...87,493,512
Ensembl chr 7:87,424,771...87,493,512
JBrowse link
apparent mineralocorticoid excess syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c6 aldo-keto reductase family 1, member C6 ISO SMPDB SMP:00717 NCBI chr13:4,434,311...4,457,530
Ensembl chr13:4,434,306...4,457,877
JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00717 NCBI chr 6:37,529,978...37,574,921
Ensembl chr 6:37,530,173...37,568,815
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO SMPDB SMP:00717 NCBI chr 9:57,998,024...58,027,031
Ensembl chr 9:58,006,411...58,027,023
JBrowse link
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 ISO SMPDB SMP:00717 NCBI chr15:74,834,892...74,841,643
Ensembl chr15:74,834,125...74,841,643
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO SMPDB SMP:00717 NCBI chr15:74,850,618...74,856,231
Ensembl chr15:74,851,010...74,856,318
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO SMPDB SMP:00717 NCBI chr19:46,667,165...46,673,000
Ensembl chr19:46,667,165...46,673,172
JBrowse link
G Cyp21a1 cytochrome P450, family 21, subfamily a, polypeptide 1 ISO SMPDB SMP:00717 NCBI chr17:34,801,348...34,804,426
Ensembl chr17:34,801,348...34,804,561
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00717 NCBI chr 1:193,221,640...193,264,045
Ensembl chr 1:193,221,634...193,264,075
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00717 NCBI chr 8:105,518,746...105,523,988
Ensembl chr 8:105,518,755...105,523,988
JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO SMPDB SMP:00717 NCBI chr 3:98,842,356...98,859,794
Ensembl chr 3:98,852,194...98,859,794
JBrowse link
argininosuccinic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase, liver ISO SMPDB SMP:00003 NCBI chr10:24,915,207...24,927,470
Ensembl chr10:24,915,221...24,927,484
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00003 NCBI chr 5:130,011,258...130,024,381
Ensembl chr 5:130,011,258...130,029,247
JBrowse link
G Ass1 argininosuccinate synthetase 1 ISO SMPDB SMP:00003 NCBI chr 2:31,470,270...31,520,670
Ensembl chr 2:31,470,207...31,520,672
JBrowse link
G Cps1 carbamoyl-phosphate synthetase 1 ISO SMPDB SMP:00003 NCBI chr 1:67,122,426...67,231,267
Ensembl chr 1:67,123,026...67,231,259
JBrowse link
G Gls2 glutaminase 2 (liver, mitochondrial) ISO SMPDB SMP:00003 NCBI chr10:128,194,635...128,210,004
Ensembl chr10:128,194,457...128,210,004
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00003 NCBI chr14:34,310,727...34,345,033
Ensembl chr14:34,310,727...34,345,265
JBrowse link
G Got2 glutamatic-oxaloacetic transaminase 2, mitochondrial ISO SMPDB SMP:00003 NCBI chr 8:95,864,133...95,888,401
Ensembl chr 8:95,864,134...95,888,547
JBrowse link
G Gpt glutamic pyruvic transaminase, soluble ISO SMPDB SMP:00003 NCBI chr15:76,696,726...76,699,675
Ensembl chr15:76,695,716...76,699,686
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00003 NCBI chr  X:10,252,230...10,321,024
Ensembl chr  X:10,252,305...10,321,024
JBrowse link
G Slc1a4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 ISO SMPDB SMP:00003 NCBI chr11:20,302,180...20,332,713
Ensembl chr11:20,302,180...20,332,713
JBrowse link
G Slc1a5 solute carrier family 1 (neutral amino acid transporter), member 5 ISO SMPDB SMP:00003 NCBI chr 7:16,781,334...16,798,274
Ensembl chr 7:16,781,340...16,798,274
JBrowse link
G Slc25a12 solute carrier family 25 (mitochondrial carrier, Aralar), member 12 ISO SMPDB SMP:00003 NCBI chr 2:71,274,270...71,367,781
Ensembl chr 2:71,271,063...71,367,749
JBrowse link
G Slc25a15 solute carrier family 25 (mitochondrial carrier ornithine transporter), member 15 ISO SMPDB SMP:00003 NCBI chr 8:22,375,550...22,398,621
Ensembl chr 8:22,375,551...22,398,597
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 2:27,165,507...27,183,204
Ensembl chr 2:27,165,233...27,183,200
JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00170 NCBI chr11:11,814,101...11,898,144
Ensembl chr11:11,814,101...11,898,144
JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO SMPDB SMP:00170 NCBI chr11:98,386,623...98,388,180
Ensembl chr11:98,386,450...98,388,181
JBrowse link
G Th tyrosine hydroxylase ISO SMPDB SMP:00170 NCBI chr 7:142,892,779...142,899,995
Ensembl chr 7:142,892,752...142,931,128
JBrowse link
beta-ureidopropionase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak3 adenylate kinase 3 ISO SMPDB SMP:00172 NCBI chr19:28,995,053...29,048,080
Ensembl chr19:29,020,833...29,047,961
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00172 NCBI chr 5:31,054,620...31,078,479
Ensembl chr 5:31,054,780...31,078,479
JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00172 NCBI chr11:118,406,289...118,419,134
Ensembl chr11:118,406,289...118,419,086
JBrowse link
G Cda cytidine deaminase ISO SMPDB SMP:00172 NCBI chr 4:138,338,528...138,368,311
Ensembl chr 4:138,338,424...138,367,992
JBrowse link
G Cmpk2 cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial ISO SMPDB SMP:00172 NCBI chr12:26,469,117...26,479,837
Ensembl chr12:26,469,204...26,479,837
JBrowse link
G Ctps cytidine 5'-triphosphate synthase ISO SMPDB SMP:00172 NCBI chr 4:120,539,868...120,570,276
Ensembl chr 4:120,539,868...120,570,276
JBrowse link
G Dctd dCMP deaminase ISO SMPDB SMP:00172 NCBI chr 8:48,099,092...48,141,667
Ensembl chr 8:48,099,092...48,153,233
JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO SMPDB SMP:00172 NCBI chr 8:109,593,244...109,608,699
Ensembl chr 8:109,591,343...109,608,673
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00172 NCBI chr 3:118,562,109...119,432,924
Ensembl chr 3:118,562,129...119,432,924
JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00172 NCBI chr15:39,768,485...39,857,470
Ensembl chr15:39,768,487...39,857,470
JBrowse link
G Dut deoxyuridine triphosphatase ISO SMPDB SMP:00172 NCBI chr 2:125,247,248...125,259,049
Ensembl chr 2:125,247,190...125,258,608
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00172 NCBI chr19:21,391,307...21,472,661
Ensembl chr19:21,391,307...21,473,445
JBrowse link
G Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase) ISO SMPDB SMP:00172 NCBI chr 2:130,664,692...130,681,614
Ensembl chr 2:130,667,610...130,681,614
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00172 NCBI chr 9:109,832,722...109,842,974
Ensembl chr 9:109,832,749...109,843,116
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00172 NCBI chr19:46,885,390...47,015,174
Ensembl chr19:46,883,317...47,015,153
JBrowse link
G Rrm2 ribonucleotide reductase M2 ISO SMPDB SMP:00172 NCBI chr12:24,708,254...24,714,146
Ensembl chr12:24,708,241...24,714,146
JBrowse link
G Rrm2b ribonucleotide reductase M2 B (TP53 inducible) ISO SMPDB SMP:00172 NCBI chr15:37,923,952...37,961,119
Ensembl chr15:37,923,952...37,961,318
JBrowse link
G Tk1 thymidine kinase 1 ISO SMPDB SMP:00172 NCBI chr11:117,815,519...117,826,087
Ensembl chr11:117,815,526...117,826,092
JBrowse link
G Tymp thymidine phosphorylase ISO SMPDB SMP:00172 NCBI chr15:89,371,631...89,377,036
Ensembl chr15:89,371,931...89,377,039
JBrowse link
G Tyms thymidylate synthase ISO SMPDB SMP:00172 NCBI chr 5:30,038,546...30,073,645
Ensembl chr 5:30,058,202...30,073,617
JBrowse link
G Uckl1 uridine-cytidine kinase 1-like 1 ISO SMPDB SMP:00172 NCBI chr 2:181,569,149...181,582,027
Ensembl chr 2:181,569,149...181,584,892
JBrowse link
G Umps uridine monophosphate synthetase ISO SMPDB SMP:00172 NCBI chr16:33,954,782...33,967,038
Ensembl chr16:33,954,782...33,967,038
JBrowse link
G Upb1 ureidopropionase, beta ISO SMPDB SMP:00172 NCBI chr10:75,406,911...75,441,679
Ensembl chr10:75,401,115...75,441,679
JBrowse link
G Upp2 uridine phosphorylase 2 ISO SMPDB SMP:00172 NCBI chr 2:58,566,317...58,795,846
Ensembl chr 2:58,567,298...58,792,971
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 chr14:31,641,057...31,668,197
Ensembl chr14:31,641,028...31,668,579
JBrowse link
G Hlcs holocarboxylase synthetase (biotin- [propriony-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase) ISO SMPDB SMP:00174 NCBI chr16:94,129,306...94,315,239
Ensembl chr16:94,128,882...94,313,571
JBrowse link
G Spcs1 signal peptidase complex subunit 1 homolog (S. cerevisiae) ISO SMPDB SMP:00174 NCBI chr14:30,999,826...31,001,666
Ensembl chr14:30,999,826...31,001,672
JBrowse link
Canavan 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:00175 NCBI chr16:8,513,429...8,621,568
Ensembl chr16:8,513,429...8,621,568
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00175 NCBI chr15:80,948,490...80,970,947
Ensembl chr15:80,948,490...80,970,946
JBrowse link
G Adssl1 adenylosuccinate synthetase like 1 ISO SMPDB SMP:00175 NCBI chr12:112,620,047...112,641,355
Ensembl chr12:112,620,045...112,641,360
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00175 NCBI chr 5:130,011,258...130,024,381
Ensembl chr 5:130,011,258...130,029,247
JBrowse link
G Asns asparagine synthetase ISO SMPDB SMP:00175 NCBI chr 6:7,675,165...7,693,209
Ensembl chr 6:7,675,169...7,693,254
JBrowse link
G Aspa aspartoacylase ISO SMPDB SMP:00175 NCBI chr11:73,304,987...73,326,876
Ensembl chr11:73,304,992...73,329,596
JBrowse link
G Asrgl1 asparaginase like 1 ISO SMPDB SMP:00175 NCBI chr19:9,111,719...9,135,566
Ensembl chr19:9,109,868...9,135,636
JBrowse link
G Ass1 argininosuccinate synthetase 1 ISO SMPDB SMP:00175 NCBI chr 2:31,470,270...31,520,670
Ensembl chr 2:31,470,207...31,520,672
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00175 NCBI chr 5:31,054,620...31,078,479
Ensembl chr 5:31,054,780...31,078,479
JBrowse link
G Dars aspartyl-tRNA synthetase ISO SMPDB SMP:00175 NCBI chr 1:128,363,707...128,417,416
Ensembl chr 1:128,363,707...128,417,368
JBrowse link
G Ddo D-aspartate oxidase ISO SMPDB SMP:00175 NCBI chr10:40,630,011...40,681,847
Ensembl chr10:40,630,011...40,681,847
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00175 NCBI chr 2:70,561,303...70,602,014
Ensembl chr 2:70,553,072...70,602,014
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00175 NCBI chr 7:44,836,288...44,840,809
Ensembl chr 7:44,816,387...44,840,809
JBrowse link
G Nars asparaginyl-tRNA synthetase ISO SMPDB SMP:00175 NCBI chr18:64,499,655...64,516,515
Ensembl chr18:64,499,647...64,516,652
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, liver ISO SMPDB SMP:00002 NCBI chr10:24,915,207...24,927,470
Ensembl chr10:24,915,221...24,927,484
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chr 5:130,011,258...130,024,381
Ensembl chr 5:130,011,258...130,029,247
JBrowse link
G Ass1 argininosuccinate synthetase 1 ISO SMPDB SMP:00002 NCBI chr 2:31,470,270...31,520,670
Ensembl chr 2:31,470,207...31,520,672
JBrowse link
G Cps1 carbamoyl-phosphate synthetase 1 ISO SMPDB SMP:00002 NCBI chr 1:67,122,426...67,231,267
Ensembl chr 1:67,123,026...67,231,259
JBrowse link
G Gls2 glutaminase 2 (liver, mitochondrial) ISO SMPDB SMP:00002 NCBI chr10:128,194,635...128,210,004
Ensembl chr10:128,194,457...128,210,004
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chr14:34,310,727...34,345,033
Ensembl chr14:34,310,727...34,345,265
JBrowse link
G Got2 glutamatic-oxaloacetic transaminase 2, mitochondrial ISO SMPDB SMP:00002 NCBI chr 8:95,864,133...95,888,401
Ensembl chr 8:95,864,134...95,888,547
JBrowse link
G Gpt glutamic pyruvic transaminase, soluble ISO SMPDB SMP:00002 NCBI chr15:76,696,726...76,699,675
Ensembl chr15:76,695,716...76,699,686
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00002 NCBI chr  X:10,252,230...10,321,024
Ensembl chr  X:10,252,305...10,321,024
JBrowse link
G Slc1a4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 ISO SMPDB SMP:00002 NCBI chr11:20,302,180...20,332,713
Ensembl chr11:20,302,180...20,332,713
JBrowse link
G Slc1a5 solute carrier family 1 (neutral amino acid transporter), member 5 ISO SMPDB SMP:00002 NCBI chr 7:16,781,334...16,798,274
Ensembl chr 7:16,781,340...16,798,274
JBrowse link
G Slc25a12 solute carrier family 25 (mitochondrial carrier, Aralar), member 12 ISO SMPDB SMP:00002 NCBI chr 2:71,274,270...71,367,781
Ensembl chr 2:71,271,063...71,367,749
JBrowse link
G Slc25a15 solute carrier family 25 (mitochondrial carrier ornithine transporter), member 15 ISO SMPDB SMP:00002 NCBI chr 8:22,375,550...22,398,621
Ensembl chr 8:22,375,551...22,398,597
JBrowse link
carnitine palmitoyltransferase I deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-Coenzyme A acyltransferase 2 (mitochondrial 3-oxoacyl-Coenzyme A thiolase) ISO SMPDB SMP:00538 NCBI chr18:74,779,212...74,806,207
Ensembl chr18:74,779,197...74,806,208
JBrowse link
G Acadl acyl-Coenzyme A dehydrogenase, long-chain ISO SMPDB SMP:00538 NCBI chr 1:66,830,839...66,863,309
Ensembl chr 1:66,830,839...66,863,277
JBrowse link
G Acadm acyl-Coenzyme A dehydrogenase, medium chain ISO SMPDB SMP:00538 NCBI chr 3:153,922,353...153,944,643
Ensembl chr 3:153,922,357...153,944,632
JBrowse link
G Acads acyl-Coenzyme A dehydrogenase, short chain ISO SMPDB SMP:00538 NCBI chr 5:115,110,299...115,119,346
Ensembl chr 5:115,110,299...115,119,346
JBrowse link
G Acadsb acyl-Coenzyme A dehydrogenase, short/branched chain ISO SMPDB SMP:00538 NCBI chr 7:131,410,601...131,446,211
Ensembl chr 7:131,410,601...131,448,944
JBrowse link
G Acadvl acyl-Coenzyme A dehydrogenase, very long chain ISO SMPDB SMP:00538 NCBI chr11:70,010,183...70,015,428
Ensembl chr11:70,010,183...70,015,411
JBrowse link
G Acat1 acetyl-Coenzyme A acetyltransferase 1 ISO SMPDB SMP:00538 NCBI chr 9:53,580,522...53,610,350
Ensembl chr 9:53,580,522...53,610,382
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00538 NCBI chr 8:46,471,037...46,536,051
Ensembl chr 8:46,471,037...46,536,051
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1a, liver ISO SMPDB SMP:00538 NCBI chr19:3,322,326...3,385,735
Ensembl chr19:3,322,334...3,385,733
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00538 NCBI chr 4:107,903,982...107,923,589
Ensembl chr 4:107,903,981...107,923,610
JBrowse link
G Echs1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial ISO SMPDB SMP:00538 NCBI chr 7:140,105,710...140,116,421
Ensembl chr 7:140,105,710...140,116,476
JBrowse link
G Gcdh glutaryl-Coenzyme A dehydrogenase ISO SMPDB SMP:00538 NCBI chr 8:84,886,387...84,893,921
Ensembl chr 8:84,886,393...84,893,921
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00538 NCBI chr 5:30,119,423...30,154,980
Ensembl chr 5:30,118,304...30,155,162
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00538 NCBI chr 5:30,155,253...30,184,593
Ensembl chr 5:30,155,248...30,184,593
JBrowse link
carnitine-acylcarnitine translocase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP-binding cassette, sub-family D (ALD), member 1 ISO SMPDB SMP:00517 NCBI chr  X:73,716,597...73,738,534
Ensembl chr  X:73,716,597...73,738,534
JBrowse link
G Abcd2 ATP-binding cassette, sub-family D (ALD), member 2 ISO SMPDB SMP:00517 NCBI chr15:91,145,871...91,192,007
Ensembl chr15:91,145,871...91,191,799
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00517 NCBI chr 8:46,471,037...46,536,051
Ensembl chr 8:46,471,037...46,536,051
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chr 4:107,903,982...107,923,589
Ensembl chr 4:107,903,981...107,923,610
JBrowse link
G Crat carnitine acetyltransferase ISO SMPDB SMP:00517 NCBI chr 2:30,400,476...30,416,017
Ensembl chr 2:30,400,471...30,415,813
JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chr 5:8,966,033...8,997,146
Ensembl chr 5:8,966,033...8,997,324
JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chr 8:3,457,105...3,467,648
Ensembl chr 8:3,457,105...3,467,680
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chr11:23,646,843...23,665,883
Ensembl chr11:23,646,479...23,665,959
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00517 NCBI chr 4:148,960,535...149,099,843
Ensembl chr 4:148,960,535...149,099,876
JBrowse link
G Slc25a20 solute carrier family 25 (mitochondrial carnitine/acylcarnitine translocase), member 20 ISO SMPDB SMP:00517 NCBI chr 9:108,662,136...108,684,642
Ensembl chr 9:108,662,088...108,684,641
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 chr16:8,513,429...8,621,568
Ensembl chr16:8,513,429...8,621,568
JBrowse link
G Aldh2 aldehyde dehydrogenase 2, mitochondrial ISO SMPDB SMP:00493 NCBI chr 5:121,566,027...121,593,824
Ensembl chr 5:121,566,027...121,593,824
JBrowse link
G Aldh6a1 aldehyde dehydrogenase family 6, subfamily A1 ISO SMPDB SMP:00493 NCBI chr12:84,430,717...84,451,024
Ensembl chr12:84,430,717...84,451,004
JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO SMPDB SMP:00493 NCBI chr11:101,330,606...101,339,430
Ensembl chr11:101,330,605...101,341,938
JBrowse link
G Cndp1 carnosine dipeptidase 1 (metallopeptidase M20 family) ISO SMPDB SMP:00493 NCBI chr18:84,610,384...84,650,234
Ensembl chr18:84,610,509...84,650,095
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00493 NCBI chr 3:118,562,109...119,432,924
Ensembl chr 3:118,562,129...119,432,924
JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00493 NCBI chr15:39,768,485...39,857,470
Ensembl chr15:39,768,487...39,857,470
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00493 NCBI chr 2:70,561,303...70,602,014
Ensembl chr 2:70,553,072...70,602,014
JBrowse link
G Upb1 ureidopropionase, beta ISO SMPDB SMP:00493 NCBI chr10:75,406,911...75,441,679
Ensembl chr10:75,401,115...75,441,679
JBrowse link
cerebrotendinous xanthomatosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-Coenzyme A oxidase 2, branched chain ISO SMPDB SMP:00315 NCBI chr14:8,225,511...8,259,019
Ensembl chr14:8,225,511...8,259,353
JBrowse link
G Akr1c6 aldo-keto reductase family 1, member C6 ISO SMPDB SMP:00315 NCBI chr13:4,434,311...4,457,530
Ensembl chr13:4,434,306...4,457,877
JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00315 NCBI chr 6:37,529,978...37,574,921
Ensembl chr 6:37,530,173...37,568,815
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00315 NCBI chr15:10,981,756...10,996,624
Ensembl chr15:10,981,756...10,996,626
JBrowse link
G Baat bile acid-Coenzyme A: amino acid N-acyltransferase ISO SMPDB SMP:00315 NCBI chr 4:49,489,416...49,507,915
Ensembl chr 4:49,489,422...49,506,557
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00315 NCBI chr19:34,473,783...34,475,148
Ensembl chr19:34,473,778...34,475,164
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 1:74,713,148...74,737,897
Ensembl chr 1:74,713,574...74,737,892
JBrowse link
G Cyp39a1 cytochrome P450, family 39, subfamily a, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr17:43,667,372...43,751,431
Ensembl chr17:43,667,425...43,751,431
JBrowse link
G Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr12:108,334,268...108,362,234
Ensembl chr12:108,334,381...108,362,234
JBrowse link
G Cyp7a1 cytochrome P450, family 7, subfamily a, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 4:6,265,612...6,275,632
Ensembl chr 4:6,265,612...6,275,633
JBrowse link
G Cyp7b1 cytochrome P450, family 7, subfamily b, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 3:18,071,944...18,243,890
Ensembl chr 3:18,071,950...18,243,338
JBrowse link
G Cyp8b1 cytochrome P450, family 8, subfamily b, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 9:121,914,356...121,916,305
Ensembl chr 9:121,914,356...121,916,305
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO SMPDB SMP:00315 NCBI chr18:50,128,201...50,196,270
Ensembl chr18:50,128,201...50,196,269
JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00315 NCBI chr 7:127,800,609...127,803,802
Ensembl chr 7:127,800,604...127,803,802
JBrowse link
G Lipa lysosomal acid lipase A ISO SMPDB SMP:00315 NCBI chr19:34,492,316...34,527,474
Ensembl chr19:34,492,318...34,527,474
JBrowse link
G Scp2 sterol carrier protein 2, liver ISO SMPDB SMP:00315 NCBI chr 4:108,043,830...108,144,971
Ensembl chr 4:108,043,839...108,144,998
JBrowse link
G Slc27a5 solute carrier family 27 (fatty acid transporter), member 5 ISO SMPDB SMP:00315 NCBI chr 7:12,988,346...12,998,192
Ensembl chr 7:12,988,346...12,998,192
JBrowse link
cholesterol ester storage disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-Coenzyme A acetyltransferase 2 ISO SMPDB SMP:00508 NCBI chr17:12,943,042...12,960,725
Ensembl chr17:12,942,890...12,960,747
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00508 NCBI chr 5:4,080,674...4,104,697
Ensembl chr 5:4,081,145...4,104,746
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00508 NCBI chr 4:106,561,038...106,589,113
Ensembl chr 4:106,561,038...106,589,113
JBrowse link
G Ebp phenylalkylamine Ca2+ antagonist (emopamil) binding protein ISO SMPDB SMP:00508 NCBI chr  X:8,185,329...8,193,512
Ensembl chr  X:8,185,329...8,193,512
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00508 NCBI chr14:63,145,150...63,181,687
Ensembl chr14:63,145,150...63,179,578
JBrowse link
G Fdps farnesyl diphosphate synthetase ISO SMPDB SMP:00508 NCBI chr 3:89,093,588...89,101,967
Ensembl chr 3:89,093,588...89,101,959
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00508 NCBI chr13:14,049,790...14,063,566
Ensembl chr13:14,050,659...14,063,488
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase ISO SMPDB SMP:00508 NCBI chr13:96,648,962...96,670,936
Ensembl chr13:96,648,967...96,670,936
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 ISO SMPDB SMP:00508 NCBI chr13:119,690,351...119,708,260
Ensembl chr13:119,690,379...119,708,260
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00508 NCBI chr 1:169,949,535...169,969,242
Ensembl chr 1:169,949,535...169,969,241
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase ISO SMPDB SMP:00508 NCBI chr13:8,885,606...8,892,396
Ensembl chr13:8,885,501...8,892,451
JBrowse link
G Lipa lysosomal acid lipase A ISO SMPDB SMP:00508 NCBI chr19:34,492,316...34,527,474
Ensembl chr19:34,492,318...34,527,474
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00508 NCBI chr10:76,531,565...76,557,139
Ensembl chr10:76,531,588...76,557,138
JBrowse link
G Msmo1 methylsterol monoxygenase 1 ISO SMPDB SMP:00508 NCBI chr 8:64,718,123...64,733,578
Ensembl chr 8:64,718,139...64,733,792
JBrowse link
G Mvd mevalonate (diphospho) decarboxylase ISO SMPDB SMP:00508 NCBI chr 8:122,433,596...122,443,422
Ensembl chr 8:122,433,601...122,443,422
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00508 NCBI chr 5:114,444,264...114,460,591
Ensembl chr 5:114,444,269...114,460,591
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00508 NCBI chr  X:72,918,521...72,958,528
Ensembl chr  X:72,918,557...72,958,514
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00508 NCBI chr 3:89,454,541...89,469,014
Ensembl chr 3:89,454,541...89,469,013
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00508 NCBI chr 9:42,251,592...42,264,300
Ensembl chr 9:42,251,595...42,264,256
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00508 NCBI chr 1:156,428,108...156,474,328
Ensembl chr 1:156,424,525...156,474,331
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00508 NCBI chr15:59,315,092...59,331,193
Ensembl chr15:59,315,077...59,331,192
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00508 NCBI chr19:6,062,821...6,067,850
Ensembl chr19:6,062,821...6,068,373
JBrowse link
citrullinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase, liver ISO SMPDB SMP:00001 NCBI chr10:24,915,207...24,927,470
Ensembl chr10:24,915,221...24,927,484
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00001 NCBI chr 5:130,011,258...130,024,381
Ensembl chr 5:130,011,258...130,029,247
JBrowse link
G Ass1 argininosuccinate synthetase 1 ISO SMPDB SMP:00001 NCBI chr 2:31,470,270...31,520,670
Ensembl chr 2:31,470,207...31,520,672
JBrowse link
G Cps1 carbamoyl-phosphate synthetase 1 ISO SMPDB SMP:00001 NCBI chr 1:67,122,426...67,231,267
Ensembl chr 1:67,123,026...67,231,259
JBrowse link
G Gls2 glutaminase 2 (liver, mitochondrial) ISO SMPDB SMP:00001 NCBI chr10:128,194,635...128,210,004
Ensembl chr10:128,194,457...128,210,004
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00001 NCBI chr14:34,310,727...34,345,033
Ensembl chr14:34,310,727...34,345,265
JBrowse link
G Got2 glutamatic-oxaloacetic transaminase 2, mitochondrial ISO SMPDB SMP:00001 NCBI chr 8:95,864,133...95,888,401
Ensembl chr 8:95,864,134...95,888,547
JBrowse link
G Gpt glutamic pyruvic transaminase, soluble ISO SMPDB SMP:00001 NCBI chr15:76,696,726...76,699,675
Ensembl chr15:76,695,716...76,699,686
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00001 NCBI chr  X:10,252,230...10,321,024
Ensembl chr  X:10,252,305...10,321,024
JBrowse link
G Slc1a4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 ISO SMPDB SMP:00001 NCBI chr11:20,302,180...20,332,713
Ensembl chr11:20,302,180...20,332,713
JBrowse link
G Slc1a5 solute carrier family 1 (neutral amino acid transporter), member 5 ISO SMPDB SMP:00001 NCBI chr 7:16,781,334...16,798,274
Ensembl chr 7:16,781,340...16,798,274
JBrowse link
G Slc25a12 solute carrier family 25 (mitochondrial carrier, Aralar), member 12 ISO SMPDB SMP:00001 NCBI chr 2:71,274,270...71,367,781
Ensembl chr 2:71,271,063...71,367,749
JBrowse link
G Slc25a15 solute carrier family 25 (mitochondrial carrier ornithine transporter), member 15 ISO SMPDB SMP:00001 NCBI chr 8:22,375,550...22,398,621
Ensembl chr 8:22,375,551...22,398,597
JBrowse link
congenital bile acid synthesis defect pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-Coenzyme A oxidase 2, branched chain ISO SMPDB SMP:00314 SMP:00318 NCBI chr14:8,225,511...8,259,019
Ensembl chr14:8,225,511...8,259,353
JBrowse link
G Akr1c6 aldo-keto reductase family 1, member C6 ISO SMPDB SMP:00314 SMP:00318 NCBI chr13:4,434,311...4,457,530
Ensembl chr13:4,434,306...4,457,877
JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 6:37,529,978...37,574,921
Ensembl chr 6:37,530,173...37,568,815
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00314 SMP:00318 NCBI chr15:10,981,756...10,996,624
Ensembl chr15:10,981,756...10,996,626
JBrowse link
G Baat bile acid-Coenzyme A: amino acid N-acyltransferase ISO SMPDB SMP:00314 SMP:00318 NCBI chr 4:49,489,416...49,507,915
Ensembl chr 4:49,489,422...49,506,557
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00314 SMP:00318 NCBI chr19:34,473,783...34,475,148
Ensembl chr19:34,473,778...34,475,164
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 1:74,713,148...74,737,897
Ensembl chr 1:74,713,574...74,737,892
JBrowse link
G Cyp39a1 cytochrome P450, family 39, subfamily a, polypeptide 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr17:43,667,372...43,751,431
Ensembl chr17:43,667,425...43,751,431
JBrowse link
G Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr12:108,334,268...108,362,234
Ensembl chr12:108,334,381...108,362,234
JBrowse link
G Cyp7a1 cytochrome P450, family 7, subfamily a, polypeptide 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 4:6,265,612...6,275,632
Ensembl chr 4:6,265,612...6,275,633
JBrowse link
G Cyp7b1 cytochrome P450, family 7, subfamily b, polypeptide 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 3:18,071,944...18,243,890
Ensembl chr 3:18,071,950...18,243,338
JBrowse link
G Cyp8b1 cytochrome P450, family 8, subfamily b, polypeptide 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 9:121,914,356...121,916,305
Ensembl chr 9:121,914,356...121,916,305
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO SMPDB SMP:00314 SMP:00318 NCBI chr18:50,128,201...50,196,270
Ensembl chr18:50,128,201...50,196,269
JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 7:127,800,609...127,803,802
Ensembl chr 7:127,800,604...127,803,802
JBrowse link
G Lipa lysosomal acid lipase A ISO SMPDB SMP:00314 SMP:00318 NCBI chr19:34,492,316...34,527,474
Ensembl chr19:34,492,318...34,527,474
JBrowse link
G Scp2 sterol carrier protein 2, liver ISO SMPDB SMP:00314 SMP:00318 NCBI chr 4:108,043,830...108,144,971
Ensembl chr 4:108,043,839...108,144,998
JBrowse link
G Slc27a5 solute carrier family 27 (fatty acid transporter), member 5 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 7:12,988,346...12,998,192
Ensembl chr 7:12,988,346...12,998,192
JBrowse link
congenital sucrase-isomaltase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-1,6-glucosidase, 4-alpha-glucanotransferase ISO SMPDB SMP:00557 NCBI chr 3:116,739,999...116,808,166
Ensembl chr 3:116,739,999...116,808,166
JBrowse link
G Gbe1 glucan (1,4-alpha-), branching enzyme 1 ISO SMPDB SMP:00557 NCBI chr16:70,313,949...70,569,720
Ensembl chr16:70,313,949...70,569,716
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00557 NCBI chr11:5,900,816...5,950,081
Ensembl chr11:5,900,820...5,950,081
JBrowse link
G Gpi1 glucose-6-phosphate isomerase 1 ISO SMPDB SMP:00557 NCBI chr 7:34,201,327...34,230,336
Ensembl chr 7:34,201,330...34,230,336
JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00557 NCBI chr 5:129,989,011...130,003,049
Ensembl chr 5:129,989,011...130,003,049
JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00557 NCBI chr 6:142,422,612...142,473,130
Ensembl chr 6:142,422,613...142,473,109
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00557 NCBI chr 6:82,725,025...82,774,454
Ensembl chr 6:82,725,025...82,774,454
JBrowse link
G Mgam maltase-glucoamylase ISO SMPDB SMP:00557 NCBI chr 6:40,628,831...40,769,123
Ensembl chr 6:40,628,831...40,769,123
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00557 NCBI chr 4:99,929,451...99,987,294
Ensembl chr 4:99,929,414...99,987,294
JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO SMPDB SMP:00557 NCBI chr 7:100,227,273...100,278,872
Ensembl chr 7:100,227,394...100,278,868
JBrowse link
G Pygl liver glycogen phosphorylase ISO SMPDB SMP:00557 NCBI chr12:70,190,815...70,227,683
Ensembl chr12:70,190,811...70,231,488
JBrowse link
G Sis sucrase isomaltase (alpha-glucosidase) ISO SMPDB SMP:00557 NCBI chr 3:72,888,557...72,967,863
Ensembl chr 3:72,888,557...72,967,863
JBrowse link
G Ugdh UDP-glucose dehydrogenase ISO SMPDB SMP:00557 NCBI chr 5:65,413,207...65,435,842
Ensembl chr 5:65,413,221...65,435,949
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00557 NCBI chr11:21,321,126...21,371,267
Ensembl chr11:21,321,138...21,371,201
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 chr17:31,612,623...31,637,233
Ensembl chr17:31,608,894...31,637,238
JBrowse link
G Cth cystathionase (cystathionine gamma-lyase) ISO SMPDB SMP:00514 NCBI chr 3:157,894,248...157,925,081
Ensembl chr 3:157,894,248...157,925,077
JBrowse link
cystinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO SMPDB SMP:00723 NCBI chr 6:55,336,299...55,348,555
Ensembl chr 6:55,336,432...55,348,555
JBrowse link
G Aqp2 aquaporin 2 ISO SMPDB SMP:00723 NCBI chr15:99,579,056...99,584,545
Ensembl chr15:99,579,055...99,584,547
JBrowse link
G Aqp3 aquaporin 3 ISO SMPDB SMP:00723 NCBI chr 4:41,092,724...41,098,183
Ensembl chr 4:41,092,722...41,098,183
JBrowse link
G Atp1a1 ATPase, Na+/K+ transporting, alpha 1 polypeptide ISO SMPDB SMP:00723 NCBI chr 3:101,576,219...101,604,707
Ensembl chr 3:101,576,219...101,604,684
JBrowse link
G Atp1a2 ATPase, Na+/K+ transporting, alpha 2 polypeptide ISO SMPDB SMP:00723 NCBI chr 1:172,271,709...172,298,064
Ensembl chr 1:172,271,709...172,298,064
JBrowse link
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO SMPDB SMP:00723 NCBI chr 7:24,978,167...25,006,077
Ensembl chr 7:24,978,167...25,005,958
JBrowse link
G Atp1a4 ATPase, Na+/K+ transporting, alpha 4 polypeptide ISO SMPDB SMP:00723 NCBI chr 1:172,223,508...172,258,424
Ensembl chr 1:172,223,513...172,258,414
JBrowse link
G Atp1b1 ATPase, Na+/K+ transporting, beta 1 polypeptide ISO SMPDB SMP:00723 NCBI chr 1:164,437,099...164,458,355
Ensembl chr 1:164,437,109...164,458,355
JBrowse link
G Atp1b2 ATPase, Na+/K+ transporting, beta 2 polypeptide ISO SMPDB SMP:00723 NCBI chr11:69,599,728...69,605,978
Ensembl chr11:69,599,736...69,605,942
JBrowse link
G Atp1b3 ATPase, Na+/K+ transporting, beta 3 polypeptide ISO SMPDB SMP:00723 NCBI chr 9:96,332,655...96,364,431
Ensembl chr 9:96,332,655...96,364,442
JBrowse link
G Atp1b4 ATPase, (Na+)/K+ transporting, beta 4 polypeptide ISO SMPDB SMP:00723 NCBI chr  X:38,316,122...38,336,784
Ensembl chr  X:38,316,184...38,336,769
JBrowse link
G Clcnka chloride channel, voltage-sensitive Ka ISO SMPDB SMP:00723 NCBI chr 4:141,384,611...141,398,706
Ensembl chr 4:141,384,610...141,398,724
JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO SMPDB SMP:00723 NCBI chr 9:45,399,709...45,410,278
Ensembl chr 9:45,399,669...45,410,278
JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO SMPDB SMP:00723 NCBI chr 8:76,898,083...77,245,012
Ensembl chr 8:76,899,442...77,245,012
JBrowse link
G Scnn1a sodium channel, nonvoltage-gated 1 alpha ISO SMPDB SMP:00723 NCBI chr 6:125,314,271...125,344,943
Ensembl chr 6:125,320,659...125,344,943
JBrowse link
G Scnn1b sodium channel, nonvoltage-gated 1 beta ISO SMPDB SMP:00723 NCBI chr 7:121,865,038...121,918,728
Ensembl chr 7:121,865,038...121,918,514
JBrowse link
G Scnn1g sodium channel, nonvoltage-gated 1 gamma ISO SMPDB SMP:00723 NCBI chr 7:121,734,420...121,768,482
Ensembl chr 7:121,734,479...121,768,475
JBrowse link
G Slc12a1 solute carrier family 12, member 1 ISO SMPDB SMP:00723 NCBI chr 2:125,152,510...125,230,002
Ensembl chr 2:125,152,505...125,230,002
JBrowse link
G Slc12a3 solute carrier family 12, member 3 ISO SMPDB SMP:00723 NCBI chr 8:94,329,109...94,366,222
Ensembl chr 8:94,329,201...94,366,214
JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO SMPDB SMP:00723 NCBI chr 2:112,266,314...112,363,163
Ensembl chr 2:112,265,825...112,363,163
JBrowse link
G Slc14a2 solute carrier family 14 (urea transporter), member 2 ISO SMPDB SMP:00723 NCBI chr18:78,146,144...78,596,950
Ensembl chr18:78,146,148...78,596,942
JBrowse link
G Slc1a1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 ISO SMPDB SMP:00723 NCBI chr19:28,835,135...28,913,960
Ensembl chr19:28,835,049...28,913,960
JBrowse link
G Slc22a2 solute carrier family 22 (organic cation transporter), member 2 ISO SMPDB SMP:00723 NCBI chr17:12,584,189...12,628,489
Ensembl chr17:12,584,132...12,628,488
JBrowse link
G Slc22a6 solute carrier family 22 (organic anion transporter), member 6 ISO SMPDB SMP:00723 NCBI chr19:8,617,996...8,628,299
Ensembl chr19:8,618,039...8,628,299
JBrowse link
G Slc38a4 solute carrier family 38, member 4 ISO SMPDB SMP:00723 NCBI chr15:96,994,816...97,055,956
Ensembl chr15:96,994,820...97,055,956
JBrowse link
G Slc3a1 solute carrier family 3, member 1 ISO SMPDB SMP:00723 NCBI chr17:85,028,347...85,064,241
Ensembl chr17:85,028,376...85,064,236
JBrowse link
G Slc3a2 solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 ISO SMPDB SMP:00723 NCBI chr19:8,706,882...8,723,369
Ensembl chr19:8,706,882...8,723,369
JBrowse link
G Slc6a20b solute carrier family 6 (neurotransmitter transporter), member 20B ISO SMPDB SMP:00723 NCBI chr 9:123,593,823...123,632,538
Ensembl chr 9:123,590,800...123,632,565
JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 ISO SMPDB SMP:00723 NCBI chr 8:121,881,146...121,907,686
Ensembl chr 8:121,881,150...121,907,694
JBrowse link
G Slc7a6 solute carrier family 7 (cationic amino acid transporter, y+ system), member 6 ISO SMPDB SMP:00723 NCBI chr 8:106,168,219...106,198,714
Ensembl chr 8:106,168,857...106,198,706
JBrowse link
G Slc7a7 solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 ISO SMPDB SMP:00723 NCBI chr14:54,369,442...54,420,068
Ensembl chr14:54,369,442...54,417,780
JBrowse link
G Slc7a8 solute carrier family 7 (cationic amino acid transporter, y+ system), member 8 ISO SMPDB SMP:00723 NCBI chr14:54,722,215...54,781,886
Ensembl chr14:54,722,209...54,781,946
JBrowse link
G Slc7a9 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 ISO SMPDB SMP:00723 NCBI chr 7:35,448,727...35,466,034
Ensembl chr 7:35,448,796...35,466,036
JBrowse link
D-glycericacidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) ISO SMPDB SMP:00529 NCBI chr17:34,604,195...34,613,449
Ensembl chr17:34,604,262...34,613,449
JBrowse link
G Akr1b3 aldo-keto reductase family 1, member B3 (aldose reductase) ISO SMPDB SMP:00529 NCBI chr 6:34,303,930...34,317,489
Ensembl chr 6:34,302,434...34,317,478
JBrowse link
G Aldh3a1 aldehyde dehydrogenase family 3, subfamily A1 ISO SMPDB SMP:00529 NCBI chr11:61,208,510...61,218,418
Ensembl chr11:61,207,537...61,218,421
JBrowse link
G Dgka diacylglycerol kinase, alpha ISO SMPDB SMP:00529 NCBI chr10:128,720,131...128,745,084
Ensembl chr10:128,720,134...128,744,855
JBrowse link
G Gk glycerol kinase ISO SMPDB SMP:00529 NCBI chr  X:85,701,937...85,776,819
Ensembl chr  X:85,701,937...85,776,819
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00529 NCBI chr 9:106,152,859...106,160,158
Ensembl chr 9:106,152,857...106,158,138
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00529 NCBI chr19:55,067,635...55,127,319
Ensembl chr19:55,067,268...55,127,238
JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 (soluble) ISO SMPDB SMP:00529 NCBI chr15:99,717,587...99,725,014
Ensembl chr15:99,717,515...99,725,005
JBrowse link
G Gpd2 glycerol phosphate dehydrogenase 2, mitochondrial ISO SMPDB SMP:00529 NCBI chr 2:57,237,678...57,370,719
Ensembl chr 2:57,237,635...57,370,719
JBrowse link
G Lipc lipase, hepatic ISO SMPDB SMP:00529 NCBI chr 9:70,798,128...70,952,221
Ensembl chr 9:70,798,128...70,952,226
JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00529 NCBI chr 8:68,880,555...68,906,932
Ensembl chr 8:68,880,491...68,907,448
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00529 NCBI chr13:112,800,777...112,867,894
Ensembl chr13:112,800,792...112,867,894
JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00529 NCBI chr10:79,526,424...79,533,787
Ensembl chr10:79,526,430...79,533,796
JBrowse link
desmosterolosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-Coenzyme A acetyltransferase 2 ISO SMPDB SMP:00386 NCBI chr17:12,943,042...12,960,725
Ensembl chr17:12,942,890...12,960,747
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00386 NCBI chr 5:4,080,674...4,104,697
Ensembl chr 5:4,081,145...4,104,746
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00386 NCBI chr 4:106,561,038...106,589,113
Ensembl chr 4:106,561,038...106,589,113
JBrowse link
G Ebp phenylalkylamine Ca2+ antagonist (emopamil) binding protein ISO SMPDB SMP:00386 NCBI chr  X:8,185,329...8,193,512
Ensembl chr  X:8,185,329...8,193,512
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00386 NCBI chr14:63,145,150...63,181,687
Ensembl chr14:63,145,150...63,179,578
JBrowse link
G Fdps farnesyl diphosphate synthetase ISO SMPDB SMP:00386 NCBI chr 3:89,093,588...89,101,967
Ensembl chr 3:89,093,588...89,101,959
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00386 NCBI chr13:14,049,790...14,063,566
Ensembl chr13:14,050,659...14,063,488
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase ISO SMPDB SMP:00386 NCBI chr13:96,648,962...96,670,936
Ensembl chr13:96,648,967...96,670,936
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 ISO SMPDB SMP:00386 NCBI chr13:119,690,351...119,708,260
Ensembl chr13:119,690,379...119,708,260
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00386 NCBI chr 1:169,949,535...169,969,242
Ensembl chr 1:169,949,535...169,969,241
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase ISO SMPDB SMP:00386 NCBI chr13:8,885,606...8,892,396
Ensembl chr13:8,885,501...8,892,451
JBrowse link
G Lipa lysosomal acid lipase A ISO SMPDB SMP:00386 NCBI chr19:34,492,316...34,527,474
Ensembl chr19:34,492,318...34,527,474
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00386 NCBI chr10:76,531,565...76,557,139
Ensembl chr10:76,531,588...76,557,138
JBrowse link
G Msmo1 methylsterol monoxygenase 1 ISO SMPDB SMP:00386 NCBI chr 8:64,718,123...64,733,578
Ensembl chr 8:64,718,139...64,733,792
JBrowse link
G Mvd mevalonate (diphospho) decarboxylase ISO SMPDB SMP:00386 NCBI chr 8:122,433,596...122,443,422
Ensembl chr 8:122,433,601...122,443,422
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00386 NCBI chr 5:114,444,264...114,460,591
Ensembl chr 5:114,444,269...114,460,591
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00386 NCBI chr  X:72,918,521...72,958,528
Ensembl chr  X:72,918,557...72,958,514
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00386 NCBI chr 3:89,454,541...89,469,014
Ensembl chr 3:89,454,541...89,469,013
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00386 NCBI chr 9:42,251,592...42,264,300
Ensembl chr 9:42,251,595...42,264,256
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00386 NCBI chr 1:156,428,108...156,474,328
Ensembl chr 1:156,424,525...156,474,331
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00386 NCBI chr15:59,315,092...59,331,193
Ensembl chr15:59,315,077...59,331,192
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00386 NCBI chr19:6,062,821...6,067,850
Ensembl chr19:6,062,821...6,068,373
JBrowse link
diabetes mellitus pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ISO RGD PMID:18025464 RGD:2301904 NCBI chr 7:46,104,523...46,180,039
Ensembl chr 7:46,104,523...46,180,033
JBrowse link
G Sod3 superoxide dismutase 3, extracellular ISO RGD PMID:12830380 RGD:1581299 NCBI chr 5:52,363,804...52,369,738
Ensembl chr 5:52,363,791...52,371,418
JBrowse link
diabetic nephropathy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16528250 RGD:1581322 NCBI chr 5:104,435,111...104,441,053
Ensembl chr 5:104,435,118...104,441,050
JBrowse link
dihydropyrimidinase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak3 adenylate kinase 3 ISO SMPDB SMP:00178 NCBI chr19:28,995,053...29,048,080
Ensembl chr19:29,020,833...29,047,961
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00178 NCBI chr 5:31,054,620...31,078,479
Ensembl chr 5:31,054,780...31,078,479
JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00178 NCBI chr11:118,406,289...118,419,134
Ensembl chr11:118,406,289...118,419,086
JBrowse link
G Cda cytidine deaminase ISO SMPDB SMP:00178 NCBI chr 4:138,338,528...138,368,311
Ensembl chr 4:138,338,424...138,367,992
JBrowse link
G Cmpk2 cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial ISO SMPDB SMP:00178 NCBI chr12:26,469,117...26,479,837
Ensembl chr12:26,469,204...26,479,837
JBrowse link
G Ctps cytidine 5'-triphosphate synthase ISO SMPDB SMP:00178 NCBI chr 4:120,539,868...120,570,276
Ensembl chr 4:120,539,868...120,570,276
JBrowse link
G Dctd dCMP deaminase ISO SMPDB SMP:00178 NCBI chr 8:48,099,092...48,141,667
Ensembl chr 8:48,099,092...48,153,233
JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO SMPDB SMP:00178 NCBI chr 8:109,593,244...109,608,699
Ensembl chr 8:109,591,343...109,608,673
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00178 NCBI chr 3:118,562,109...119,432,924
Ensembl chr 3:118,562,129...119,432,924
JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00178 NCBI chr15:39,768,485...39,857,470
Ensembl chr15:39,768,487...39,857,470
JBrowse link
G Dut deoxyuridine triphosphatase ISO SMPDB SMP:00178 NCBI chr 2:125,247,248...125,259,049
Ensembl chr 2:125,247,190...125,258,608
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00178 NCBI chr19:21,391,307...21,472,661
Ensembl chr19:21,391,307...21,473,445
JBrowse link
G Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase) ISO SMPDB SMP:00178 NCBI chr 2:130,664,692...130,681,614
Ensembl chr 2:130,667,610...130,681,614
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00178 NCBI chr 9:109,832,722...109,842,974
Ensembl chr 9:109,832,749...109,843,116
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00178 NCBI chr19:46,885,390...47,015,174
Ensembl chr19:46,883,317...47,015,153
JBrowse link
G Rrm2 ribonucleotide reductase M2 ISO SMPDB SMP:00178 NCBI chr12:24,708,254...24,714,146
Ensembl chr12:24,708,241...24,714,146
JBrowse link
G Rrm2b ribonucleotide reductase M2 B (TP53 inducible) ISO SMPDB SMP:00178 NCBI chr15:37,923,952...37,961,119
Ensembl chr15:37,923,952...37,961,318
JBrowse link
G Tk1 thymidine kinase 1 ISO SMPDB SMP:00178 NCBI chr11:117,815,519...117,826,087
Ensembl chr11:117,815,526...117,826,092
JBrowse link
G Tymp thymidine phosphorylase ISO SMPDB SMP:00178 NCBI chr15:89,371,631...89,377,036
Ensembl chr15:89,371,931...89,377,039
JBrowse link
G Tyms thymidylate synthase ISO SMPDB SMP:00178 NCBI chr 5:30,038,546...30,073,645
Ensembl chr 5:30,058,202...30,073,617
JBrowse link
G Uckl1 uridine-cytidine kinase 1-like 1 ISO SMPDB SMP:00178 NCBI chr 2:181,569,149...181,582,027
Ensembl chr 2:181,569,149...181,584,892
JBrowse link
G Umps uridine monophosphate synthetase ISO SMPDB SMP:00178 NCBI chr16:33,954,782...33,967,038
Ensembl chr16:33,954,782...33,967,038
JBrowse link
G Upb1 ureidopropionase, beta ISO SMPDB SMP:00178 NCBI chr10:75,406,911...75,441,679
Ensembl chr10:75,401,115...75,441,679
JBrowse link
G Upp2 uridine phosphorylase 2 ISO SMPDB SMP:00178 NCBI chr 2:58,566,317...58,795,846
Ensembl chr 2:58,567,298...58,792,971
JBrowse link
dihydropyrimidine dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine-glyoxylate aminotransferase ISO SMPDB SMP:00179 NCBI chr 1:93,135,240...93,145,421
Ensembl chr 1:93,135,240...93,145,421
JBrowse link
G Alas1 aminolevulinic acid synthase 1 ISO SMPDB SMP:00179 NCBI chr 9:106,233,455...106,247,954
Ensembl chr 9:106,233,455...106,248,654
JBrowse link
G Aldh2 aldehyde dehydrogenase 2, mitochondrial ISO SMPDB SMP:00179 NCBI chr 5:121,566,027...121,593,824
Ensembl chr 5:121,566,027...121,593,824
JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00179 NCBI chr 9:108,296,905...108,302,302
Ensembl chr 9:108,296,853...108,302,302
JBrowse link
G Bhmt betaine-homocysteine methyltransferase ISO SMPDB SMP:00179 NCBI chr13:93,616,891...93,637,758
Ensembl chr13:93,616,675...93,637,961
JBrowse link
G Cbs cystathionine beta-synthase ISO SMPDB SMP:00179 NCBI chr17:31,612,623...31,637,233
Ensembl chr17:31,608,894...31,637,238
JBrowse link
G Cth cystathionase (cystathionine gamma-lyase) ISO SMPDB SMP:00179 NCBI chr 3:157,894,248...157,925,081
Ensembl chr 3:157,894,248...157,925,077
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00179 NCBI chr12:31,331,562...31,351,471
Ensembl chr12:31,331,277...31,351,453
JBrowse link
G Dmgdh dimethylglycine dehydrogenase precursor ISO SMPDB SMP:00179 NCBI chr13:93,674,436...93,752,823
Ensembl chr13:93,674,433...93,752,833
JBrowse link
G Gamt guanidinoacetate methyltransferase ISO SMPDB SMP:00179 NCBI chr10:80,258,151...80,261,025
Ensembl chr10:80,258,151...80,261,012
JBrowse link
G Gars glycyl-tRNA synthetase ISO SMPDB SMP:00179 NCBI chr 6:55,038,001...55,079,504
Ensembl chr 6:55,038,007...55,079,500
JBrowse link
G Gatm glycine amidinotransferase (L-arginine:glycine amidinotransferase) ISO SMPDB SMP:00179 NCBI chr 2:122,594,473...122,611,277
Ensembl chr 2:122,594,467...122,611,303
JBrowse link
G Gcat glycine C-acetyltransferase (2-amino-3-ketobutyrate-coenzyme A ligase) ISO SMPDB SMP:00179 NCBI chr15:79,030,874...79,042,531
Ensembl chr15:79,030,874...79,038,353
Ensembl chr15:79,030,874...79,038,353
JBrowse link
G Gldc glycine decarboxylase ISO SMPDB SMP:00179 NCBI chr19:30,098,441...30,175,441
Ensembl chr19:30,098,447...30,175,429
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00179 NCBI chr 9:106,152,859...106,160,158
Ensembl chr 9:106,152,857...106,158,138
JBrowse link
G Gnmt glycine N-methyltransferase ISO SMPDB SMP:00179 NCBI chr17:46,725,664...46,729,211
Ensembl chr17:46,725,664...46,729,168
JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00179 NCBI chr  X:16,619,698...16,687,812
Ensembl chr  X:16,619,698...16,687,818
JBrowse link
G Phgdh 3-phosphoglycerate dehydrogenase ISO SMPDB SMP:00179 NCBI chr 3:98,313,171...98,339,969
Ensembl chr 3:98,313,170...98,339,990
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00179 NCBI chr19:15,905,123...15,925,059
Ensembl chr19:15,904,678...15,947,337
JBrowse link
G Psph phosphoserine phosphatase ISO SMPDB SMP:00179 NCBI chr 5:129,765,558...129,787,443
Ensembl chr 5:129,765,558...129,787,449
JBrowse link
G Sardh sarcosine dehydrogenase ISO SMPDB SMP:00179 NCBI chr 2:27,188,393...27,248,332
Ensembl chr 2:27,188,393...27,248,337
JBrowse link
G Sars seryl-aminoacyl-tRNA synthetase ISO SMPDB SMP:00179 NCBI chr 3:108,424,864...108,445,259
Ensembl chr 3:108,424,865...108,445,209
JBrowse link
G Sds serine dehydratase ISO SMPDB SMP:00179 NCBI chr 5:120,476,547...120,483,932
Ensembl chr 5:120,476,526...120,483,932
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 (soluble) ISO SMPDB SMP:00179 NCBI chr11:60,788,897...60,811,265
Ensembl chr11:60,788,104...60,811,718
JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 (mitochondrial) ISO SMPDB SMP:00179 NCBI chr10:127,517,123...127,522,444
Ensembl chr10:127,517,123...127,522,444
JBrowse link
G Srr serine racemase ISO SMPDB SMP:00179 NCBI chr11:74,904,027...74,927,533
Ensembl chr11:74,906,359...74,925,948
JBrowse link
dimethylglycine dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine-glyoxylate aminotransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 1:93,135,240...93,145,421
Ensembl chr 1:93,135,240...93,145,421
JBrowse link
G Alas1 aminolevulinic acid synthase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 9:106,233,455...106,247,954
Ensembl chr 9:106,233,455...106,248,654
JBrowse link
G Aldh2 aldehyde dehydrogenase 2, mitochondrial ISO SMPDB SMP:00242 SMP:00484 NCBI chr 5:121,566,027...121,593,824
Ensembl chr 5:121,566,027...121,593,824
JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 9:108,296,905...108,302,302
Ensembl chr 9:108,296,853...108,302,302
JBrowse link
G Bhmt betaine-homocysteine methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr13:93,616,891...93,637,758
Ensembl chr13:93,616,675...93,637,961
JBrowse link
G Cbs cystathionine beta-synthase ISO SMPDB SMP:00242 SMP:00484 NCBI chr17:31,612,623...31,637,233
Ensembl chr17:31,608,894...31,637,238
JBrowse link
G Cth cystathionase (cystathionine gamma-lyase) ISO SMPDB SMP:00242 SMP:00484 NCBI chr 3:157,894,248...157,925,081
Ensembl chr 3:157,894,248...157,925,077
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr12:31,331,562...31,351,471
Ensembl chr12:31,331,277...31,351,453
JBrowse link
G Dmgdh dimethylglycine dehydrogenase precursor ISO SMPDB SMP:00242 SMP:00484 NCBI chr13:93,674,436...93,752,823
Ensembl chr13:93,674,433...93,752,833
JBrowse link
G Gamt guanidinoacetate methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr10:80,258,151...80,261,025
Ensembl chr10:80,258,151...80,261,012
JBrowse link
G Gars glycyl-tRNA synthetase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 6:55,038,001...55,079,504
Ensembl chr 6:55,038,007...55,079,500