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Pathways

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 (https://rgd.mcw.edu/rgdweb/contact/contactus.html).

Term:congenital disease pathway
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Accession:PW:0001476 term browser browse the term
Definition:Those diseases present at birth and also before birth, or those that develop during the first month of life. Alteration(s) in one or several pathways can contribute to the development of the condition usually manifested in structural deformities.
Synonyms:related_synonym: congenital disorder pathway


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11-beta-hydroxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1d1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00575 NCBI chrNW_004955494:4,799,706...4,856,100
Ensembl chrNW_004955494:4,799,450...4,854,696
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00575 NCBI chrNW_004955489:2,500,928...2,524,715
Ensembl chrNW_004955489:2,497,680...2,524,805
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00575 NCBI chrNW_004955484:9,206,681...9,212,356
Ensembl chrNW_004955484:9,206,681...9,212,356
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00575 NCBI chrNW_004955435:22,414,605...22,421,682 JBrowse link
G LOC102008255 steroid 21-hydroxylase ISO SMPDB SMP:00575 NCBI chrNW_004955437:513,052...516,792
Ensembl chrNW_004955437:513,052...516,792
JBrowse link
G LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase ISO SMPDB SMP:00575 NCBI chrNW_004955485:7,615,132...7,652,899
Ensembl chrNW_004955485:7,645,363...7,650,658
JBrowse link
G LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial ISO SMPDB SMP:00575 NCBI chrNW_004955450:3,433,310...3,484,462
Ensembl chrNW_004955450:3,474,491...3,484,232
JBrowse link
17-alpha-hydroxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1d1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00372 NCBI chrNW_004955494:4,799,706...4,856,100
Ensembl chrNW_004955494:4,799,450...4,854,696
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00372 NCBI chrNW_004955489:2,500,928...2,524,715
Ensembl chrNW_004955489:2,497,680...2,524,805
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00372 NCBI chrNW_004955484:9,206,681...9,212,356
Ensembl chrNW_004955484:9,206,681...9,212,356
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00372 NCBI chrNW_004955435:22,414,605...22,421,682 JBrowse link
G LOC102008255 steroid 21-hydroxylase ISO SMPDB SMP:00372 NCBI chrNW_004955437:513,052...516,792
Ensembl chrNW_004955437:513,052...516,792
JBrowse link
G LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase ISO SMPDB SMP:00372 NCBI chrNW_004955485:7,615,132...7,652,899
Ensembl chrNW_004955485:7,645,363...7,650,658
JBrowse link
G LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial ISO SMPDB SMP:00372 NCBI chrNW_004955450:3,433,310...3,484,462
Ensembl chrNW_004955450:3,474,491...3,484,232
JBrowse link
2-aminoadipic 2-oxoadipic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00719 NCBI chrNW_004955479:3,746,003...3,805,835
Ensembl chrNW_004955479:3,742,757...3,814,338
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00719 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00719 NCBI chrNW_004955521:4,365,075...4,396,105
Ensembl chrNW_004955521:4,364,638...4,396,129
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00719 NCBI chrNW_004955462:103,501...163,472
Ensembl chrNW_004955462:103,598...162,344
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00719 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00719 NCBI chrNW_004955523:660,413...680,878
Ensembl chrNW_004955523:661,738...680,802
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00719 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chrNW_004955496:1,835,034...1,861,410
Ensembl chrNW_004955496:1,835,034...1,861,407
JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00719 NCBI chrNW_004955481:4,128,503...4,225,027
Ensembl chrNW_004955481:4,128,509...4,143,334
JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00719 NCBI chrNW_004955552:2,117,972...2,141,144
Ensembl chrNW_004955552:2,117,755...2,141,231
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 chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00136 NCBI chrNW_004955527:338,593...369,528
Ensembl chrNW_004955527:338,593...372,872
JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family member A1 ISO SMPDB SMP:00136 NCBI chrNW_004955483:2,467,425...2,494,416
Ensembl chrNW_004955483:2,467,425...2,494,416
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00136 NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00136 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00136 NCBI chrNW_004955493:2,083,272...2,113,403
Ensembl chrNW_004955493:2,090,940...2,113,843
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00136 NCBI chrNW_004955449:3,964,006...4,001,850
Ensembl chrNW_004955449:3,963,705...4,001,850
JBrowse link
G Gclc glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00136 NCBI chrNW_004955411:2,593,523...2,617,553
Ensembl chrNW_004955411:2,593,541...2,616,539
JBrowse link
G Gclm glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00136 NCBI chrNW_004955423:782,468...805,384
Ensembl chrNW_004955423:782,468...805,384
JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00136 NCBI chrNW_004955424:15,692,088...15,739,894
Ensembl chrNW_004955424:15,692,088...15,739,894
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00136 NCBI chrNW_004955458:4,055,088...4,065,307
Ensembl chrNW_004955458:4,050,674...4,065,322
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00136 NCBI chrNW_004955510:5,987,811...6,021,001
Ensembl chrNW_004955510:5,988,965...6,020,995
JBrowse link
G Glul glutamate-ammonia ligase ISO SMPDB SMP:00136 NCBI chrNW_004955406:21,266,383...21,274,546
Ensembl chrNW_004955406:21,266,383...21,275,309
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00136 NCBI chrNW_004955448:6,931,891...6,984,662
Ensembl chrNW_004955448:6,932,926...6,984,662
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00136 NCBI chrNW_004955409:10,406,248...10,424,431
Ensembl chrNW_004955409:10,406,723...10,424,431
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00136 NCBI chrNW_004955433:16,121,795...16,145,129
Ensembl chrNW_004955433:16,122,824...16,145,113
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00136 NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00136 NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583
JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00136 NCBI chrNW_004955422:26,427,581...26,483,380
Ensembl chrNW_004955422:26,427,581...26,463,781
JBrowse link
G Nadsyn1 NAD synthetase 1 ISO SMPDB SMP:00136 NCBI chrNW_004955422:15,067,711...15,113,942
Ensembl chrNW_004955422:15,066,708...15,114,049
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00136 NCBI chrNW_004955424:14,205,689...14,215,201
Ensembl chrNW_004955424:14,205,813...14,215,156
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00136 NCBI chrNW_004955447:14,552,846...14,607,416
Ensembl chrNW_004955447:14,574,407...14,607,416
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00136 NCBI chrNW_004955532:1,093,444...1,100,591
Ensembl chrNW_004955532:1,092,125...1,100,603
JBrowse link
21-alpha-hydroxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1d1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00373 NCBI chrNW_004955494:4,799,706...4,856,100
Ensembl chrNW_004955494:4,799,450...4,854,696
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00373 NCBI chrNW_004955489:2,500,928...2,524,715
Ensembl chrNW_004955489:2,497,680...2,524,805
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00373 NCBI chrNW_004955484:9,206,681...9,212,356
Ensembl chrNW_004955484:9,206,681...9,212,356
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00373 NCBI chrNW_004955435:22,414,605...22,421,682 JBrowse link
G LOC102008255 steroid 21-hydroxylase ISO SMPDB SMP:00373 NCBI chrNW_004955437:513,052...516,792
Ensembl chrNW_004955437:513,052...516,792
JBrowse link
G LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase ISO SMPDB SMP:00373 NCBI chrNW_004955485:7,615,132...7,652,899
Ensembl chrNW_004955485:7,645,363...7,650,658
JBrowse link
G LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial ISO SMPDB SMP:00373 NCBI chrNW_004955450:3,433,310...3,484,462
Ensembl chrNW_004955450:3,474,491...3,484,232
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 chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00138 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00138 NCBI chrNW_004955412:35,067,637...35,083,889
Ensembl chrNW_004955412:35,067,702...35,083,889
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00138 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00138 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00138 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00138 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00138 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00138 NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00138 NCBI chrNW_004955403:827,538...875,856
Ensembl chrNW_004955403:828,066...872,218
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00138 NCBI chrNW_004955515:971,778...1,124,019
Ensembl chrNW_004955515:971,800...1,123,474
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00138 NCBI chrNW_004955413:19,975,395...20,087,656
Ensembl chrNW_004955413:19,981,328...20,087,638
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00138 NCBI chrNW_004955555:334,253...357,417
Ensembl chrNW_004955555:333,642...358,799
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00138 NCBI chrNW_004955411:8,427,875...8,626,564
Ensembl chrNW_004955411:8,437,548...8,628,363
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00138 NCBI chrNW_004955435:4,975,664...5,005,126
Ensembl chrNW_004955435:4,973,830...5,017,816
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00138 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00138 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00138 NCBI chrNW_004955410:29,180,411...29,294,273
Ensembl chrNW_004955410:29,180,184...29,294,315
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00138 NCBI chrNW_004955403:8,752,339...8,796,693
Ensembl chrNW_004955403:8,752,309...8,792,927
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00138 NCBI chrNW_004955452:3,720,103...3,734,730
Ensembl chrNW_004955452:3,720,103...3,735,192
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00138 NCBI chrNW_004955435:22,804,484...22,820,807
Ensembl chrNW_004955435:22,804,484...22,821,482
JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00138 NCBI chrNW_004955475:478,690...481,029
Ensembl chrNW_004955475:478,690...481,029
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00138 NCBI chrNW_004955416:7,327,557...7,341,533
Ensembl chrNW_004955416:7,327,557...7,346,027
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00138 NCBI chrNW_004955420:11,781,662...11,828,060
Ensembl chrNW_004955420:11,781,104...11,820,338
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00138 NCBI chrNW_004955575:445,627...503,891
Ensembl chrNW_004955575:445,619...505,040
JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00138 NCBI chrNW_004955416:29,684,557...29,703,495
Ensembl chrNW_004955416:29,685,385...29,698,557
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00138 NCBI chrNW_004955411:8,363,142...8,397,839
Ensembl chrNW_004955411:8,363,142...8,399,216
JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00138 NCBI chrNW_004955426:25,885,518...25,998,187
Ensembl chrNW_004955426:25,885,518...26,003,743
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00138 NCBI chrNW_004955404:10,317,640...10,719,148
Ensembl chrNW_004955404:10,317,640...10,661,496
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00138 NCBI chrNW_004955501:2,474,330...2,563,107
Ensembl chrNW_004955501:2,474,330...2,563,837
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-CoA acyltransferase 2 ISO SMPDB SMP:00568 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00568 NCBI chrNW_004955457:5,266,032...5,300,632
Ensembl chrNW_004955457:5,266,033...5,300,056
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00568 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00568 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acss3 acyl-CoA synthetase short chain family member 3 ISO SMPDB SMP:00568 NCBI chrNW_004955405:19,677,191...19,836,086
Ensembl chrNW_004955405:19,677,537...19,836,086
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00568 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00568 NCBI chrNW_004955496:1,835,034...1,861,410
Ensembl chrNW_004955496:1,835,034...1,861,407
JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00568 NCBI chrNW_004955475:478,690...481,029
Ensembl chrNW_004955475:478,690...481,029
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 chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955412:35,067,637...35,083,889
Ensembl chrNW_004955412:35,067,702...35,083,889
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955403:827,538...875,856
Ensembl chrNW_004955403:828,066...872,218
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955515:971,778...1,124,019
Ensembl chrNW_004955515:971,800...1,123,474
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955413:19,975,395...20,087,656
Ensembl chrNW_004955413:19,981,328...20,087,638
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955555:334,253...357,417
Ensembl chrNW_004955555:333,642...358,799
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955411:8,427,875...8,626,564
Ensembl chrNW_004955411:8,437,548...8,628,363
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955435:4,975,664...5,005,126
Ensembl chrNW_004955435:4,973,830...5,017,816
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955410:29,180,411...29,294,273
Ensembl chrNW_004955410:29,180,184...29,294,315
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955403:8,752,339...8,796,693
Ensembl chrNW_004955403:8,752,309...8,792,927
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955452:3,720,103...3,734,730
Ensembl chrNW_004955452:3,720,103...3,735,192
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955435:22,804,484...22,820,807
Ensembl chrNW_004955435:22,804,484...22,821,482
JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955475:478,690...481,029
Ensembl chrNW_004955475:478,690...481,029
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955416:7,327,557...7,341,533
Ensembl chrNW_004955416:7,327,557...7,346,027
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955420:11,781,662...11,828,060
Ensembl chrNW_004955420:11,781,104...11,820,338
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955575:445,627...503,891
Ensembl chrNW_004955575:445,619...505,040
JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955416:29,684,557...29,703,495
Ensembl chrNW_004955416:29,685,385...29,698,557
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955411:8,363,142...8,397,839
Ensembl chrNW_004955411:8,363,142...8,399,216
JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955426:25,885,518...25,998,187
Ensembl chrNW_004955426:25,885,518...26,003,743
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955404:10,317,640...10,719,148
Ensembl chrNW_004955404:10,317,640...10,661,496
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00521 SMP:00522 NCBI chrNW_004955501:2,474,330...2,563,107
Ensembl chrNW_004955501:2,474,330...2,563,837
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 chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00237 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00237 NCBI chrNW_004955412:35,067,637...35,083,889
Ensembl chrNW_004955412:35,067,702...35,083,889
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00237 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00237 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00237 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00237 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00237 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00237 NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00237 NCBI chrNW_004955403:827,538...875,856
Ensembl chrNW_004955403:828,066...872,218
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00237 NCBI chrNW_004955515:971,778...1,124,019
Ensembl chrNW_004955515:971,800...1,123,474
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00237 NCBI chrNW_004955413:19,975,395...20,087,656
Ensembl chrNW_004955413:19,981,328...20,087,638
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00237 NCBI chrNW_004955555:334,253...357,417
Ensembl chrNW_004955555:333,642...358,799
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00237 NCBI chrNW_004955411:8,427,875...8,626,564
Ensembl chrNW_004955411:8,437,548...8,628,363
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00237 NCBI chrNW_004955435:4,975,664...5,005,126
Ensembl chrNW_004955435:4,973,830...5,017,816
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00237 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00237 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00237 NCBI chrNW_004955410:29,180,411...29,294,273
Ensembl chrNW_004955410:29,180,184...29,294,315
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00237 NCBI chrNW_004955403:8,752,339...8,796,693
Ensembl chrNW_004955403:8,752,309...8,792,927
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00237 NCBI chrNW_004955452:3,720,103...3,734,730
Ensembl chrNW_004955452:3,720,103...3,735,192
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00237 NCBI chrNW_004955435:22,804,484...22,820,807
Ensembl chrNW_004955435:22,804,484...22,821,482
JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00237 NCBI chrNW_004955475:478,690...481,029
Ensembl chrNW_004955475:478,690...481,029
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00237 NCBI chrNW_004955416:7,327,557...7,341,533
Ensembl chrNW_004955416:7,327,557...7,346,027
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00237 NCBI chrNW_004955420:11,781,662...11,828,060
Ensembl chrNW_004955420:11,781,104...11,820,338
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00237 NCBI chrNW_004955575:445,627...503,891
Ensembl chrNW_004955575:445,619...505,040
JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00237 NCBI chrNW_004955416:29,684,557...29,703,495
Ensembl chrNW_004955416:29,685,385...29,698,557
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00237 NCBI chrNW_004955411:8,363,142...8,397,839
Ensembl chrNW_004955411:8,363,142...8,399,216
JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00237 NCBI chrNW_004955426:25,885,518...25,998,187
Ensembl chrNW_004955426:25,885,518...26,003,743
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00237 NCBI chrNW_004955404:10,317,640...10,719,148
Ensembl chrNW_004955404:10,317,640...10,661,496
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00237 NCBI chrNW_004955501:2,474,330...2,563,107
Ensembl chrNW_004955501:2,474,330...2,563,837
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 chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00139 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00139 NCBI chrNW_004955412:35,067,637...35,083,889
Ensembl chrNW_004955412:35,067,702...35,083,889
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00139 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00139 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00139 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00139 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00139 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00139 NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00139 NCBI chrNW_004955403:827,538...875,856
Ensembl chrNW_004955403:828,066...872,218
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00139 NCBI chrNW_004955515:971,778...1,124,019
Ensembl chrNW_004955515:971,800...1,123,474
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00139 NCBI chrNW_004955413:19,975,395...20,087,656
Ensembl chrNW_004955413:19,981,328...20,087,638
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00139 NCBI chrNW_004955555:334,253...357,417
Ensembl chrNW_004955555:333,642...358,799
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00139 NCBI chrNW_004955411:8,427,875...8,626,564
Ensembl chrNW_004955411:8,437,548...8,628,363
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00139 NCBI chrNW_004955435:4,975,664...5,005,126
Ensembl chrNW_004955435:4,973,830...5,017,816
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00139 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00139 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00139 NCBI chrNW_004955410:29,180,411...29,294,273
Ensembl chrNW_004955410:29,180,184...29,294,315
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00139 NCBI chrNW_004955403:8,752,339...8,796,693
Ensembl chrNW_004955403:8,752,309...8,792,927
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00139 NCBI chrNW_004955452:3,720,103...3,734,730
Ensembl chrNW_004955452:3,720,103...3,735,192
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00139 NCBI chrNW_004955435:22,804,484...22,820,807
Ensembl chrNW_004955435:22,804,484...22,821,482
JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00139 NCBI chrNW_004955475:478,690...481,029
Ensembl chrNW_004955475:478,690...481,029
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00139 NCBI chrNW_004955416:7,327,557...7,341,533
Ensembl chrNW_004955416:7,327,557...7,346,027
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00139 NCBI chrNW_004955420:11,781,662...11,828,060
Ensembl chrNW_004955420:11,781,104...11,820,338
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00139 NCBI chrNW_004955575:445,627...503,891
Ensembl chrNW_004955575:445,619...505,040
JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00139 NCBI chrNW_004955416:29,684,557...29,703,495
Ensembl chrNW_004955416:29,685,385...29,698,557
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00139 NCBI chrNW_004955411:8,363,142...8,397,839
Ensembl chrNW_004955411:8,363,142...8,399,216
JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00139 NCBI chrNW_004955426:25,885,518...25,998,187
Ensembl chrNW_004955426:25,885,518...26,003,743
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00139 NCBI chrNW_004955404:10,317,640...10,719,148
Ensembl chrNW_004955404:10,317,640...10,661,496
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00139 NCBI chrNW_004955501:2,474,330...2,563,107
Ensembl chrNW_004955501:2,474,330...2,563,837
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 chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00140 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00140 NCBI chrNW_004955412:35,067,637...35,083,889
Ensembl chrNW_004955412:35,067,702...35,083,889
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00140 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00140 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00140 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00140 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00140 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00140 NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00140 NCBI chrNW_004955403:827,538...875,856
Ensembl chrNW_004955403:828,066...872,218
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00140 NCBI chrNW_004955515:971,778...1,124,019
Ensembl chrNW_004955515:971,800...1,123,474
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00140 NCBI chrNW_004955413:19,975,395...20,087,656
Ensembl chrNW_004955413:19,981,328...20,087,638
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00140 NCBI chrNW_004955555:334,253...357,417
Ensembl chrNW_004955555:333,642...358,799
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00140 NCBI chrNW_004955411:8,427,875...8,626,564
Ensembl chrNW_004955411:8,437,548...8,628,363
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00140 NCBI chrNW_004955435:4,975,664...5,005,126
Ensembl chrNW_004955435:4,973,830...5,017,816
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00140 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00140 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00140 NCBI chrNW_004955410:29,180,411...29,294,273
Ensembl chrNW_004955410:29,180,184...29,294,315
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00140 NCBI chrNW_004955403:8,752,339...8,796,693
Ensembl chrNW_004955403:8,752,309...8,792,927
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00140 NCBI chrNW_004955452:3,720,103...3,734,730
Ensembl chrNW_004955452:3,720,103...3,735,192
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00140 NCBI chrNW_004955435:22,804,484...22,820,807
Ensembl chrNW_004955435:22,804,484...22,821,482
JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00140 NCBI chrNW_004955475:478,690...481,029
Ensembl chrNW_004955475:478,690...481,029
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00140 NCBI chrNW_004955416:7,327,557...7,341,533
Ensembl chrNW_004955416:7,327,557...7,346,027
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00140 NCBI chrNW_004955420:11,781,662...11,828,060
Ensembl chrNW_004955420:11,781,104...11,820,338
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00140 NCBI chrNW_004955575:445,627...503,891
Ensembl chrNW_004955575:445,619...505,040
JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00140 NCBI chrNW_004955416:29,684,557...29,703,495
Ensembl chrNW_004955416:29,685,385...29,698,557
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00140 NCBI chrNW_004955411:8,363,142...8,397,839
Ensembl chrNW_004955411:8,363,142...8,399,216
JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00140 NCBI chrNW_004955426:25,885,518...25,998,187
Ensembl chrNW_004955426:25,885,518...26,003,743
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00140 NCBI chrNW_004955404:10,317,640...10,719,148
Ensembl chrNW_004955404:10,317,640...10,661,496
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00140 NCBI chrNW_004955501:2,474,330...2,563,107
Ensembl chrNW_004955501:2,474,330...2,563,837
JBrowse link
acute intermittent porphyria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO SMPDB SMP:00344 NCBI chrNW_004955419:14,093,010...14,104,376
Ensembl chrNW_004955419:14,093,010...14,104,545
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00344 NCBI chrNW_004955532:3,810,469...3,823,456
Ensembl chrNW_004955532:3,810,464...3,823,456
JBrowse link
G Blvra biliverdin reductase A ISO SMPDB SMP:00344 NCBI chrNW_004955460:129,077...167,345
Ensembl chrNW_004955460:125,854...167,506
JBrowse link
G Cox15 cytochrome c oxidase assembly factor COX15 ISO SMPDB SMP:00344 NCBI chrNW_004955507:5,600,605...5,617,556
Ensembl chrNW_004955507:5,600,605...5,617,556
JBrowse link
G Cpox coproporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chrNW_004955427:152,397...163,570
Ensembl chrNW_004955427:152,894...164,030
JBrowse link
G Fech ferrochelatase ISO SMPDB SMP:00344 NCBI chrNW_004955402:41,902,868...41,938,099
Ensembl chrNW_004955402:41,902,868...41,938,174
JBrowse link
G Ftmt ferritin mitochondrial ISO SMPDB SMP:00344 NCBI chrNW_004955521:76,591...77,470 JBrowse link
G Gusb glucuronidase beta ISO SMPDB SMP:00344 NCBI chrNW_004955456:8,377,161...8,392,298
Ensembl chrNW_004955456:8,378,654...8,392,252
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO SMPDB SMP:00344 NCBI chrNW_004955412:20,192,519...20,202,635
Ensembl chrNW_004955412:20,192,522...20,202,635
JBrowse link
G Hmox1 heme oxygenase 1 ISO SMPDB SMP:00344 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
JBrowse link
G LOC102022268 protoheme IX farnesyltransferase, mitochondrial ISO SMPDB SMP:00344 NCBI chrNW_004955467:3,294,200...3,415,778
Ensembl chrNW_004955467:3,292,018...3,415,778
JBrowse link
G Ppox protoporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chrNW_004955468:12,930,387...12,934,437
Ensembl chrNW_004955468:12,930,495...12,934,437
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO SMPDB SMP:00344 NCBI chrNW_004955464:13,226,271...13,228,908
Ensembl chrNW_004955464:13,221,551...13,229,253
JBrowse link
G Uros uroporphyrinogen III synthase ISO SMPDB SMP:00344 NCBI chrNW_004955477:3,673,583...3,707,761
Ensembl chrNW_004955477:3,673,532...3,707,760
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 chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00535 NCBI chrNW_004955462:9,196,984...9,278,850
Ensembl chrNW_004955462:9,207,314...9,278,621
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00535 NCBI chrNW_004955413:26,067,463...26,084,669
Ensembl chrNW_004955413:26,067,516...26,088,527
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00535 NCBI chrNW_004955406:7,684,979...7,715,179
Ensembl chrNW_004955406:7,683,596...7,715,616
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00535 NCBI chrNW_004955419:799,415...807,138
Ensembl chrNW_004955419:799,410...811,029
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00535 NCBI chrNW_004955435:17,962,487...17,991,625
Ensembl chrNW_004955435:17,962,514...17,991,556
JBrowse link
G Aprt adenine phosphoribosyltransferase ISO SMPDB SMP:00535 NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906
JBrowse link
G Atad1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00535 NCBI chrNW_004955425:5,118,107...5,180,578
Ensembl chrNW_004955425:5,117,964...5,180,578
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00535 NCBI chrNW_004955457:704,213...729,702
Ensembl chrNW_004955457:704,213...730,134
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00535 NCBI chrNW_004955424:11,739,904...11,773,884
Ensembl chrNW_004955424:11,738,859...11,773,902
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00535 NCBI chrNW_004955523:1,407,812...1,441,829
Ensembl chrNW_004955523:1,421,749...1,441,829
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00535 NCBI chrNW_004955513:5,352,843...5,357,671
Ensembl chrNW_004955513:5,353,229...5,356,019
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00535 NCBI chrNW_004955407:32,944,638...32,975,142
Ensembl chrNW_004955407:32,944,164...32,973,863
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00535 NCBI chrNW_004955434:983,388...1,050,413
Ensembl chrNW_004955434:983,388...1,049,948
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00535 NCBI chrNW_004955483:9,559,079...9,608,807
Ensembl chrNW_004955483:9,559,079...9,608,953
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00535 NCBI chrNW_004955448:6,931,891...6,984,662
Ensembl chrNW_004955448:6,932,926...6,984,662
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00535 NCBI chrNW_004955412:9,218,029...9,480,333
Ensembl chrNW_004955412:9,225,305...9,480,206
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00535 NCBI chrNW_004955471:11,303,478...11,349,512
Ensembl chrNW_004955471:11,303,242...11,351,190
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00535 NCBI chrNW_004955581:299,010...305,032
Ensembl chrNW_004955581:299,280...305,032
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00535 NCBI chrNW_004955473:462,940...510,006
Ensembl chrNW_004955473:461,957...496,196
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00535 NCBI chrNW_004955479:9,388,241...9,406,717
Ensembl chrNW_004955479:9,388,108...9,406,764
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00535 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00535 NCBI chrNW_004955420:24,301,079...24,306,370
Ensembl chrNW_004955420:24,301,081...24,306,493
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00535 NCBI chrNW_004955485:7,318,006...7,394,448
Ensembl chrNW_004955485:7,317,588...7,394,448
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00535 NCBI chrNW_004955472:1,760,046...1,774,539
Ensembl chrNW_004955472:1,759,900...1,774,539
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00535 NCBI chrNW_004955462:190,872...211,975
Ensembl chrNW_004955462:190,999...203,736
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00535 NCBI chrNW_004955447:14,558,468...14,571,081
Ensembl chrNW_004955447:14,558,468...14,574,052
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00535 NCBI chrNW_004955439:16,114,530...16,370,648
Ensembl chrNW_004955439:16,114,530...16,365,146
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00535 NCBI chrNW_004955446:7,914,326...9,252,527
Ensembl chrNW_004955446:8,211,877...9,252,653
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00535 NCBI chrNW_004955467:8,640,044...8,660,950
Ensembl chrNW_004955467:8,640,044...8,660,979
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00535 NCBI chrNW_004955550:1,290,816...1,299,553
Ensembl chrNW_004955550:1,290,244...1,298,068
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00535 NCBI chrNW_004955447:14,552,846...14,607,416
Ensembl chrNW_004955447:14,574,407...14,607,416
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00535 NCBI chrNW_004955410:20,987,289...20,988,852 JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00535 NCBI chrNW_004955414:19,850,523...19,904,879
Ensembl chrNW_004955414:19,850,530...19,905,266
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00535 NCBI chrNW_004955487:5,477,097...5,481,422
Ensembl chrNW_004955487:5,476,954...5,483,049
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 chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00537 NCBI chrNW_004955462:9,196,984...9,278,850
Ensembl chrNW_004955462:9,207,314...9,278,621
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00537 NCBI chrNW_004955413:26,067,463...26,084,669
Ensembl chrNW_004955413:26,067,516...26,088,527
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00537 NCBI chrNW_004955406:7,684,979...7,715,179
Ensembl chrNW_004955406:7,683,596...7,715,616
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00537 NCBI chrNW_004955419:799,415...807,138
Ensembl chrNW_004955419:799,410...811,029
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00537 NCBI chrNW_004955435:17,962,487...17,991,625
Ensembl chrNW_004955435:17,962,514...17,991,556
JBrowse link
G Aprt adenine phosphoribosyltransferase ISO SMPDB SMP:00537 NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906
JBrowse link
G Atad1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00537 NCBI chrNW_004955425:5,118,107...5,180,578
Ensembl chrNW_004955425:5,117,964...5,180,578
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00537 NCBI chrNW_004955457:704,213...729,702
Ensembl chrNW_004955457:704,213...730,134
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00537 NCBI chrNW_004955424:11,739,904...11,773,884
Ensembl chrNW_004955424:11,738,859...11,773,902
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00537 NCBI chrNW_004955523:1,407,812...1,441,829
Ensembl chrNW_004955523:1,421,749...1,441,829
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00537 NCBI chrNW_004955513:5,352,843...5,357,671
Ensembl chrNW_004955513:5,353,229...5,356,019
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00537 NCBI chrNW_004955407:32,944,638...32,975,142
Ensembl chrNW_004955407:32,944,164...32,973,863
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00537 NCBI chrNW_004955434:983,388...1,050,413
Ensembl chrNW_004955434:983,388...1,049,948
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00537 NCBI chrNW_004955483:9,559,079...9,608,807
Ensembl chrNW_004955483:9,559,079...9,608,953
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00537 NCBI chrNW_004955448:6,931,891...6,984,662
Ensembl chrNW_004955448:6,932,926...6,984,662
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00537 NCBI chrNW_004955412:9,218,029...9,480,333
Ensembl chrNW_004955412:9,225,305...9,480,206
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00537 NCBI chrNW_004955471:11,303,478...11,349,512
Ensembl chrNW_004955471:11,303,242...11,351,190
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00537 NCBI chrNW_004955581:299,010...305,032
Ensembl chrNW_004955581:299,280...305,032
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00537 NCBI chrNW_004955473:462,940...510,006
Ensembl chrNW_004955473:461,957...496,196
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00537 NCBI chrNW_004955479:9,388,241...9,406,717
Ensembl chrNW_004955479:9,388,108...9,406,764
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00537 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00537 NCBI chrNW_004955420:24,301,079...24,306,370
Ensembl chrNW_004955420:24,301,081...24,306,493
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00537 NCBI chrNW_004955485:7,318,006...7,394,448
Ensembl chrNW_004955485:7,317,588...7,394,448
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00537 NCBI chrNW_004955472:1,760,046...1,774,539
Ensembl chrNW_004955472:1,759,900...1,774,539
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00537 NCBI chrNW_004955462:190,872...211,975
Ensembl chrNW_004955462:190,999...203,736
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00537 NCBI chrNW_004955447:14,558,468...14,571,081
Ensembl chrNW_004955447:14,558,468...14,574,052
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00537 NCBI chrNW_004955439:16,114,530...16,370,648
Ensembl chrNW_004955439:16,114,530...16,365,146
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00537 NCBI chrNW_004955446:7,914,326...9,252,527
Ensembl chrNW_004955446:8,211,877...9,252,653
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00537 NCBI chrNW_004955467:8,640,044...8,660,950
Ensembl chrNW_004955467:8,640,044...8,660,979
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00537 NCBI chrNW_004955550:1,290,816...1,299,553
Ensembl chrNW_004955550:1,290,244...1,298,068
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00537 NCBI chrNW_004955447:14,552,846...14,607,416
Ensembl chrNW_004955447:14,574,407...14,607,416
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00537 NCBI chrNW_004955410:20,987,289...20,988,852 JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00537 NCBI chrNW_004955414:19,850,523...19,904,879
Ensembl chrNW_004955414:19,850,530...19,905,266
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00537 NCBI chrNW_004955487:5,477,097...5,481,422
Ensembl chrNW_004955487:5,476,954...5,483,049
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 chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00167 NCBI chrNW_004955462:9,196,984...9,278,850
Ensembl chrNW_004955462:9,207,314...9,278,621
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00167 NCBI chrNW_004955413:26,067,463...26,084,669
Ensembl chrNW_004955413:26,067,516...26,088,527
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00167 NCBI chrNW_004955406:7,684,979...7,715,179
Ensembl chrNW_004955406:7,683,596...7,715,616
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00167 NCBI chrNW_004955419:799,415...807,138
Ensembl chrNW_004955419:799,410...811,029
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00167 NCBI chrNW_004955435:17,962,487...17,991,625
Ensembl chrNW_004955435:17,962,514...17,991,556
JBrowse link
G Aprt adenine phosphoribosyltransferase ISO SMPDB SMP:00167 NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906
JBrowse link
G Atad1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00167 NCBI chrNW_004955425:5,118,107...5,180,578
Ensembl chrNW_004955425:5,117,964...5,180,578
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00167 NCBI chrNW_004955457:704,213...729,702
Ensembl chrNW_004955457:704,213...730,134
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00167 NCBI chrNW_004955424:11,739,904...11,773,884
Ensembl chrNW_004955424:11,738,859...11,773,902
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00167 NCBI chrNW_004955523:1,407,812...1,441,829
Ensembl chrNW_004955523:1,421,749...1,441,829
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00167 NCBI chrNW_004955513:5,352,843...5,357,671
Ensembl chrNW_004955513:5,353,229...5,356,019
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00167 NCBI chrNW_004955407:32,944,638...32,975,142
Ensembl chrNW_004955407:32,944,164...32,973,863
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00167 NCBI chrNW_004955434:983,388...1,050,413
Ensembl chrNW_004955434:983,388...1,049,948
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00167 NCBI chrNW_004955483:9,559,079...9,608,807
Ensembl chrNW_004955483:9,559,079...9,608,953
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00167 NCBI chrNW_004955448:6,931,891...6,984,662
Ensembl chrNW_004955448:6,932,926...6,984,662
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00167 NCBI chrNW_004955412:9,218,029...9,480,333
Ensembl chrNW_004955412:9,225,305...9,480,206
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00167 NCBI chrNW_004955471:11,303,478...11,349,512
Ensembl chrNW_004955471:11,303,242...11,351,190
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00167 NCBI chrNW_004955581:299,010...305,032
Ensembl chrNW_004955581:299,280...305,032
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00167 NCBI chrNW_004955473:462,940...510,006
Ensembl chrNW_004955473:461,957...496,196
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00167 NCBI chrNW_004955479:9,388,241...9,406,717
Ensembl chrNW_004955479:9,388,108...9,406,764
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00167 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00167 NCBI chrNW_004955420:24,301,079...24,306,370
Ensembl chrNW_004955420:24,301,081...24,306,493
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00167 NCBI chrNW_004955485:7,318,006...7,394,448
Ensembl chrNW_004955485:7,317,588...7,394,448
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00167 NCBI chrNW_004955472:1,760,046...1,774,539
Ensembl chrNW_004955472:1,759,900...1,774,539
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00167 NCBI chrNW_004955462:190,872...211,975
Ensembl chrNW_004955462:190,999...203,736
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00167 NCBI chrNW_004955447:14,558,468...14,571,081
Ensembl chrNW_004955447:14,558,468...14,574,052
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00167 NCBI chrNW_004955439:16,114,530...16,370,648
Ensembl chrNW_004955439:16,114,530...16,365,146
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00167 NCBI chrNW_004955446:7,914,326...9,252,527
Ensembl chrNW_004955446:8,211,877...9,252,653
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00167 NCBI chrNW_004955467:8,640,044...8,660,950
Ensembl chrNW_004955467:8,640,044...8,660,979
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00167 NCBI chrNW_004955550:1,290,816...1,299,553
Ensembl chrNW_004955550:1,290,244...1,298,068
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00167 NCBI chrNW_004955447:14,552,846...14,607,416
Ensembl chrNW_004955447:14,574,407...14,607,416
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00167 NCBI chrNW_004955410:20,987,289...20,988,852 JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00167 NCBI chrNW_004955414:19,850,523...19,904,879
Ensembl chrNW_004955414:19,850,530...19,905,266
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00167 NCBI chrNW_004955487:5,477,097...5,481,422
Ensembl chrNW_004955487:5,476,954...5,483,049
JBrowse link
adrenoleukodystrophy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO SMPDB SMP:00516 NCBI chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00516 NCBI chrNW_004955505:717,800...769,702
Ensembl chrNW_004955505:721,222...798,470
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00516 NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00516 NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345
JBrowse link
G Crat carnitine O-acetyltransferase ISO SMPDB SMP:00516 NCBI chrNW_004955570:1,417,608...1,428,720
Ensembl chrNW_004955570:1,417,608...1,428,720
JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00516 NCBI chrNW_004955607:379,121...413,394
Ensembl chrNW_004955607:378,439...413,394
JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00516 NCBI chrNW_004955563:1,737,560...1,743,854
Ensembl chrNW_004955563:1,737,560...1,743,854
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00516 NCBI chrNW_004955424:22,799,568...22,830,718
Ensembl chrNW_004955424:22,799,568...22,830,718
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00516 NCBI chrNW_004955486:2,981,026...3,129,721
Ensembl chrNW_004955486:2,980,700...3,129,721
JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO SMPDB SMP:00516 NCBI chrNW_004955532:902,937...933,675
Ensembl chrNW_004955532:902,937...921,174
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 chrNW_004955527:338,593...369,528
Ensembl chrNW_004955527:338,593...372,872
JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00362 SMP:00507 NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00362 SMP:00507 NCBI chrNW_004955538:2,379,868...2,380,771 JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Dao D-amino acid oxidase ISO SMPDB SMP:00362 SMP:00507 NCBI chrNW_004955455:10,095,597...10,127,244
Ensembl chrNW_004955455:10,095,300...10,127,666
JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chrNW_004955520:3,550,558...3,606,015
Ensembl chrNW_004955520:3,550,558...3,606,697
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chrNW_004955495:6,536,541...6,539,424
Ensembl chrNW_004955495:6,536,544...6,539,424
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chrNW_004955510:5,987,811...6,021,001
Ensembl chrNW_004955510:5,988,965...6,020,995
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chrNW_004955477:2,430,146...2,450,135
Ensembl chrNW_004955477:2,429,776...2,450,624
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00362 SMP:00507 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00362 SMP:00507 NCBI chrNW_004955414:17,344,512...17,376,564
Ensembl chrNW_004955414:17,344,509...17,376,564
JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00362 SMP:00507 NCBI chrNW_004955489:138,600...143,112
Ensembl chrNW_004955489:138,600...143,112
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00362 SMP:00507 NCBI chrNW_004955411:14,470,479...14,527,895
Ensembl chrNW_004955411:14,470,479...14,527,895
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00362 SMP:00507 NCBI chrNW_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197
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 chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00168 NCBI chrNW_004955462:9,196,984...9,278,850
Ensembl chrNW_004955462:9,207,314...9,278,621
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00168 NCBI chrNW_004955413:26,067,463...26,084,669
Ensembl chrNW_004955413:26,067,516...26,088,527
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00168 NCBI chrNW_004955406:7,684,979...7,715,179
Ensembl chrNW_004955406:7,683,596...7,715,616
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00168 NCBI chrNW_004955419:799,415...807,138
Ensembl chrNW_004955419:799,410...811,029
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00168 NCBI chrNW_004955435:17,962,487...17,991,625
Ensembl chrNW_004955435:17,962,514...17,991,556
JBrowse link
G Aprt adenine phosphoribosyltransferase ISO SMPDB SMP:00168 NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906
JBrowse link
G Atad1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00168 NCBI chrNW_004955425:5,118,107...5,180,578
Ensembl chrNW_004955425:5,117,964...5,180,578
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00168 NCBI chrNW_004955457:704,213...729,702
Ensembl chrNW_004955457:704,213...730,134
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00168 NCBI chrNW_004955424:11,739,904...11,773,884
Ensembl chrNW_004955424:11,738,859...11,773,902
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00168 NCBI chrNW_004955523:1,407,812...1,441,829
Ensembl chrNW_004955523:1,421,749...1,441,829
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00168 NCBI chrNW_004955513:5,352,843...5,357,671
Ensembl chrNW_004955513:5,353,229...5,356,019
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00168 NCBI chrNW_004955407:32,944,638...32,975,142
Ensembl chrNW_004955407:32,944,164...32,973,863
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00168 NCBI chrNW_004955434:983,388...1,050,413
Ensembl chrNW_004955434:983,388...1,049,948
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00168 NCBI chrNW_004955483:9,559,079...9,608,807
Ensembl chrNW_004955483:9,559,079...9,608,953
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00168 NCBI chrNW_004955448:6,931,891...6,984,662
Ensembl chrNW_004955448:6,932,926...6,984,662
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00168 NCBI chrNW_004955412:9,218,029...9,480,333
Ensembl chrNW_004955412:9,225,305...9,480,206
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00168 NCBI chrNW_004955471:11,303,478...11,349,512
Ensembl chrNW_004955471:11,303,242...11,351,190
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00168 NCBI chrNW_004955581:299,010...305,032
Ensembl chrNW_004955581:299,280...305,032
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00168 NCBI chrNW_004955473:462,940...510,006
Ensembl chrNW_004955473:461,957...496,196
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00168 NCBI chrNW_004955479:9,388,241...9,406,717
Ensembl chrNW_004955479:9,388,108...9,406,764
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00168 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00168 NCBI chrNW_004955420:24,301,079...24,306,370
Ensembl chrNW_004955420:24,301,081...24,306,493
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00168 NCBI chrNW_004955485:7,318,006...7,394,448
Ensembl chrNW_004955485:7,317,588...7,394,448
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00168 NCBI chrNW_004955472:1,760,046...1,774,539
Ensembl chrNW_004955472:1,759,900...1,774,539
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00168 NCBI chrNW_004955462:190,872...211,975
Ensembl chrNW_004955462:190,999...203,736
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00168 NCBI chrNW_004955447:14,558,468...14,571,081
Ensembl chrNW_004955447:14,558,468...14,574,052
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00168 NCBI chrNW_004955439:16,114,530...16,370,648
Ensembl chrNW_004955439:16,114,530...16,365,146
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00168 NCBI chrNW_004955446:7,914,326...9,252,527
Ensembl chrNW_004955446:8,211,877...9,252,653
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00168 NCBI chrNW_004955467:8,640,044...8,660,950
Ensembl chrNW_004955467:8,640,044...8,660,979
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00168 NCBI chrNW_004955550:1,290,816...1,299,553
Ensembl chrNW_004955550:1,290,244...1,298,068
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00168 NCBI chrNW_004955447:14,552,846...14,607,416
Ensembl chrNW_004955447:14,574,407...14,607,416
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00168 NCBI chrNW_004955410:20,987,289...20,988,852 JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00168 NCBI chrNW_004955414:19,850,523...19,904,879
Ensembl chrNW_004955414:19,850,530...19,905,266
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00168 NCBI chrNW_004955487:5,477,097...5,481,422
Ensembl chrNW_004955487:5,476,954...5,483,049
JBrowse link
alkaptonuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00169 NCBI chrNW_004955467:96,140...105,738
Ensembl chrNW_004955467:96,140...105,738
JBrowse link
G Aoc1 amine oxidase copper containing 1 ISO SMPDB SMP:00169 NCBI chrNW_004955491:5,316,482...5,326,262
Ensembl chrNW_004955491:5,316,476...5,326,305
JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00169 NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412
JBrowse link
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00169 NCBI chrNW_004955513:2,918,085...2,932,481
Ensembl chrNW_004955513:2,918,286...2,932,247
JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00169 NCBI chrNW_004955404:15,359,402...15,395,556
Ensembl chrNW_004955404:15,359,402...15,395,535
JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00169 NCBI chrNW_004955456:3,513,779...3,582,851
Ensembl chrNW_004955456:3,513,042...3,582,911
JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00169 NCBI chrNW_004955533:904,294...921,730
Ensembl chrNW_004955533:904,295...921,730
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00169 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00169 NCBI chrNW_004955438:1,218,990...1,231,407
Ensembl chrNW_004955438:1,219,018...1,231,287
JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00169 NCBI chrNW_004955441:10,114,863...10,128,948
Ensembl chrNW_004955441:10,110,380...10,129,015
JBrowse link
G Hgd homogentisate 1,2-dioxygenase ISO SMPDB SMP:00169 NCBI chrNW_004955427:20,141,522...20,188,700
Ensembl chrNW_004955427:20,137,861...20,188,700
JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00169 NCBI chrNW_004955482:6,586,975...6,595,034
Ensembl chrNW_004955482:6,586,975...6,595,034
JBrowse link
G Maoa amine oxidase [flavin-containing] A ISO SMPDB SMP:00169 NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317
JBrowse link
G Mif macrophage migration inhibitory factor ISO SMPDB SMP:00169 NCBI chrNW_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460
JBrowse link
G Pnmt phenylethanolamine N-methyltransferase ISO SMPDB SMP:00169 NCBI chrNW_004955451:14,414,836...14,417,972
Ensembl chrNW_004955451:14,416,121...14,417,901
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00169 NCBI chrNW_004955484:4,278,083...4,287,535
Ensembl chrNW_004955484:4,276,953...4,287,627
JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00169 NCBI chrNW_004955414:4,244,035...4,314,001
Ensembl chrNW_004955414:4,244,035...4,314,001
JBrowse link
apparent mineralocorticoid excess syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1d1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00717 NCBI chrNW_004955494:4,799,706...4,856,100
Ensembl chrNW_004955494:4,799,450...4,854,696
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00717 NCBI chrNW_004955489:2,500,928...2,524,715
Ensembl chrNW_004955489:2,497,680...2,524,805
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00717 NCBI chrNW_004955484:9,206,681...9,212,356
Ensembl chrNW_004955484:9,206,681...9,212,356
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00717 NCBI chrNW_004955435:22,414,605...22,421,682 JBrowse link
G LOC102008255 steroid 21-hydroxylase ISO SMPDB SMP:00717 NCBI chrNW_004955437:513,052...516,792
Ensembl chrNW_004955437:513,052...516,792
JBrowse link
G LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase ISO SMPDB SMP:00717 NCBI chrNW_004955485:7,615,132...7,652,899
Ensembl chrNW_004955485:7,645,363...7,650,658
JBrowse link
G LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial ISO SMPDB SMP:00717 NCBI chrNW_004955450:3,433,310...3,484,462
Ensembl chrNW_004955450:3,474,491...3,484,232
JBrowse link
argininosuccinic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00003 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00003 NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00003 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00003 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00003 NCBI chrNW_004955458:4,055,088...4,065,307
Ensembl chrNW_004955458:4,050,674...4,065,322
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00003 NCBI chrNW_004955510:5,987,811...6,021,001
Ensembl chrNW_004955510:5,988,965...6,020,995
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00003 NCBI chrNW_004955433:16,121,795...16,145,129
Ensembl chrNW_004955433:16,122,824...16,145,113
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00003 NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00003 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00003 NCBI chrNW_004955424:19,474,082...19,499,592
Ensembl chrNW_004955424:19,474,082...19,499,592
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00003 NCBI chrNW_004955574:798,004...806,631 JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00003 NCBI chrNW_004955449:3,093,603...3,182,513
Ensembl chrNW_004955449:3,093,603...3,186,737
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00003 NCBI chrNW_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197
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 chrNW_004955513:2,918,085...2,932,481
Ensembl chrNW_004955513:2,918,286...2,932,247
JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00170 NCBI chrNW_004955456:3,513,779...3,582,851
Ensembl chrNW_004955456:3,513,042...3,582,911
JBrowse link
G Pnmt phenylethanolamine N-methyltransferase ISO SMPDB SMP:00170 NCBI chrNW_004955451:14,414,836...14,417,972
Ensembl chrNW_004955451:14,416,121...14,417,901
JBrowse link
G Th tyrosine hydroxylase ISO SMPDB SMP:00170 NCBI chrNW_004955422:13,943,590...13,951,102
Ensembl chrNW_004955422:13,943,552...13,951,137
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 chrNW_004955434:8,998,357...9,010,468
Ensembl chrNW_004955434:9,000,158...9,011,250
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00172 NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865
JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00172 NCBI chrNW_004955506:3,707,028...3,722,339
Ensembl chrNW_004955506:3,713,277...3,722,390
JBrowse link
G Cda cytidine deaminase ISO SMPDB SMP:00172 NCBI chrNW_004955452:1,131,968...1,156,777
Ensembl chrNW_004955452:1,132,049...1,156,565
JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00172 NCBI chrNW_004955487:2,010,126...2,024,804
Ensembl chrNW_004955487:2,010,228...2,029,175
JBrowse link
G Ctps1 CTP synthase 1 ISO SMPDB SMP:00172 NCBI chrNW_004955537:773,664...811,084
Ensembl chrNW_004955537:774,002...813,254
JBrowse link
G Dctd dCMP deaminase ISO SMPDB SMP:00172 NCBI chrNW_004955403:25,825,366...25,849,511
Ensembl chrNW_004955403:25,825,672...25,850,862
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00172 NCBI chrNW_004955484:4,699,743...4,713,466
Ensembl chrNW_004955484:4,699,722...4,713,466
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00172 NCBI chrNW_004955435:2,007,185...2,800,907
Ensembl chrNW_004955435:2,007,185...2,766,138
JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00172 NCBI chrNW_004955417:28,183,771...28,244,309
Ensembl chrNW_004955417:28,185,407...28,244,307
JBrowse link
G Dut deoxyuridine triphosphatase ISO SMPDB SMP:00172 NCBI chrNW_004955409:5,574,810...5,584,135
Ensembl chrNW_004955409:5,574,694...5,584,134
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00172 NCBI chrNW_004955434:983,388...1,050,413
Ensembl chrNW_004955434:983,388...1,049,948
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00172 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00172 NCBI chrNW_004955420:24,301,079...24,306,370
Ensembl chrNW_004955420:24,301,081...24,306,493
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00172 NCBI chrNW_004955485:7,318,006...7,394,448
Ensembl chrNW_004955485:7,317,588...7,394,448
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00172 NCBI chrNW_004955487:5,477,097...5,481,422
Ensembl chrNW_004955487:5,476,954...5,483,049
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00172 NCBI chrNW_004955417:26,949,686...26,976,976
Ensembl chrNW_004955417:26,949,686...26,976,726
JBrowse link
G Tk1 thymidine kinase 1 ISO SMPDB SMP:00172 NCBI chrNW_004955506:4,379,830...4,390,729
Ensembl chrNW_004955506:4,379,830...4,394,713
JBrowse link
G Tymp thymidine phosphorylase ISO SMPDB SMP:00172 NCBI chrNW_004955413:33,505,424...33,509,095
Ensembl chrNW_004955413:33,505,446...33,508,748
JBrowse link
G Tyms thymidylate synthetase ISO SMPDB SMP:00172 NCBI chrNW_004955402:9,295,862...9,304,952
Ensembl chrNW_004955402:9,296,321...9,306,631
JBrowse link
G Uckl1 uridine-cytidine kinase 1 like 1 ISO SMPDB SMP:00172 NCBI chrNW_004955528:297,952...311,306
Ensembl chrNW_004955528:297,952...311,306
JBrowse link
G Umps uridine monophosphate synthetase ISO SMPDB SMP:00172 NCBI chrNW_004955427:23,825,529...23,841,427
Ensembl chrNW_004955427:23,825,523...23,841,152
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00172 NCBI chrNW_004955455:7,961,296...7,992,235
Ensembl chrNW_004955455:7,961,264...7,995,946
JBrowse link
G Upp2 uridine phosphorylase 2 ISO SMPDB SMP:00172 NCBI chrNW_004955449:15,355,592...15,405,997
Ensembl chrNW_004955449:15,365,106...15,405,235
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 chrNW_004955430:7,960,036...7,988,754
Ensembl chrNW_004955430:7,960,039...7,988,754
JBrowse link
G Hlcs holocarboxylase synthetase ISO SMPDB SMP:00174 NCBI chrNW_004955407:35,870,820...36,062,066
Ensembl chrNW_004955407:35,873,826...36,074,868
JBrowse link
G Spcs1 signal peptidase complex subunit 1 ISO SMPDB SMP:00174 NCBI chrNW_004955430:2,689,927...2,692,119
Ensembl chrNW_004955430:2,689,927...2,692,119
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 chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00175 NCBI chrNW_004955413:26,067,463...26,084,669
Ensembl chrNW_004955413:26,067,516...26,088,527
JBrowse link
G Adss1 adenylosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chrNW_004955538:3,179,299...3,196,251
Ensembl chrNW_004955538:3,179,299...3,196,251
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00175 NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992
JBrowse link
G Aspa aspartoacylase ISO SMPDB SMP:00175 NCBI chrNW_004955467:13,277,014...13,332,658
Ensembl chrNW_004955467:13,280,254...13,316,114
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00175 NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865
JBrowse link
G Dars1 aspartyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chrNW_004955440:3,268,648...3,345,808
Ensembl chrNW_004955440:3,266,821...3,345,808
JBrowse link
G Ddo D-aspartate oxidase ISO SMPDB SMP:00175 NCBI chrNW_004955411:35,142,415...35,163,234
Ensembl chrNW_004955411:35,143,735...35,163,276
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00175 NCBI chrNW_004955449:3,964,006...4,001,850
Ensembl chrNW_004955449:3,963,705...4,001,850
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00175 NCBI chrNW_004955559:1,012,634...1,047,051
Ensembl chrNW_004955559:1,034,917...1,047,034
JBrowse link
G Nars1 asparaginyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chrNW_004955402:41,947,592...41,967,136
Ensembl chrNW_004955402:41,946,098...41,967,644
JBrowse link
carbamoyl phosphate synthetase I deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00002 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chrNW_004955458:4,055,088...4,065,307
Ensembl chrNW_004955458:4,050,674...4,065,322
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chrNW_004955510:5,987,811...6,021,001
Ensembl chrNW_004955510:5,988,965...6,020,995
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chrNW_004955433:16,121,795...16,145,129
Ensembl chrNW_004955433:16,122,824...16,145,113
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00002 NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00002 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chrNW_004955424:19,474,082...19,499,592
Ensembl chrNW_004955424:19,474,082...19,499,592
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chrNW_004955574:798,004...806,631 JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chrNW_004955449:3,093,603...3,182,513
Ensembl chrNW_004955449:3,093,603...3,186,737
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chrNW_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197
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-CoA acyltransferase 2 ISO SMPDB SMP:00538 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00538 NCBI chrNW_004955457:5,266,032...5,300,632
Ensembl chrNW_004955457:5,266,033...5,300,056
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00538 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00538 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00538 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00538 NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00538 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00538 NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00538 NCBI chrNW_004955422:17,105,887...17,159,696
Ensembl chrNW_004955422:17,109,256...17,159,838
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00538 NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00538 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00538 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00538 NCBI chrNW_004955469:8,183,945...8,233,869
Ensembl chrNW_004955469:8,183,945...8,233,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00538 NCBI chrNW_004955469:8,233,980...8,272,149
Ensembl chrNW_004955469:8,233,980...8,274,450
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 subfamily D member 1 ISO SMPDB SMP:00517 NCBI chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00517 NCBI chrNW_004955505:717,800...769,702
Ensembl chrNW_004955505:721,222...798,470
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00517 NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345
JBrowse link
G Crat carnitine O-acetyltransferase ISO SMPDB SMP:00517 NCBI chrNW_004955570:1,417,608...1,428,720
Ensembl chrNW_004955570:1,417,608...1,428,720
JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chrNW_004955607:379,121...413,394
Ensembl chrNW_004955607:378,439...413,394
JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chrNW_004955563:1,737,560...1,743,854
Ensembl chrNW_004955563:1,737,560...1,743,854
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chrNW_004955424:22,799,568...22,830,718
Ensembl chrNW_004955424:22,799,568...22,830,718
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00517 NCBI chrNW_004955486:2,981,026...3,129,721
Ensembl chrNW_004955486:2,980,700...3,129,721
JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO SMPDB SMP:00517 NCBI chrNW_004955532:902,937...933,675
Ensembl chrNW_004955532:902,937...921,174
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 chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00493 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00493 NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073
JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO SMPDB SMP:00493 NCBI chrNW_004955402:57,970,205...58,019,980
Ensembl chrNW_004955402:57,970,161...58,019,479
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00493 NCBI chrNW_004955435:2,007,185...2,800,907
Ensembl chrNW_004955435:2,007,185...2,766,138
JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00493 NCBI chrNW_004955417:28,183,771...28,244,309
Ensembl chrNW_004955417:28,185,407...28,244,307
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00493 NCBI chrNW_004955449:3,964,006...4,001,850
Ensembl chrNW_004955449:3,963,705...4,001,850
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00493 NCBI chrNW_004955455:7,961,296...7,992,235
Ensembl chrNW_004955455:7,961,264...7,995,946
JBrowse link
cerebrotendinous xanthomatosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO SMPDB SMP:00315 NCBI chrNW_004955430:1,638,931...1,665,308
Ensembl chrNW_004955430:1,638,431...1,665,141
JBrowse link
G Akr1d1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00315 NCBI chrNW_004955494:4,799,706...4,856,100
Ensembl chrNW_004955494:4,799,450...4,854,696
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00315 NCBI chrNW_004955426:19,570,179...19,580,920
Ensembl chrNW_004955426:19,570,070...19,580,818
JBrowse link
G Baat bile acid-CoA:amino acid N-acyltransferase ISO SMPDB SMP:00315 NCBI chrNW_004955419:24,469,213...24,521,728
Ensembl chrNW_004955419:24,443,172...24,520,467
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004955425:3,763,302...3,764,432 JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00315 NCBI chrNW_004955408:39,041,028...39,136,867
Ensembl chrNW_004955408:39,040,840...39,138,338
JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00315 NCBI chrNW_004955493:7,835,160...7,838,428
Ensembl chrNW_004955493:7,835,160...7,838,428
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00315 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
JBrowse link
G LOC102004889 sterol 26-hydroxylase, mitochondrial ISO SMPDB SMP:00315 NCBI chrNW_004955453:14,601,495...14,647,383
Ensembl chrNW_004955453:14,601,444...14,647,366
JBrowse link
G LOC102006164 24-hydroxycholesterol 7-alpha-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004955437:11,444,780...11,497,268
Ensembl chrNW_004955437:11,444,220...11,497,084
JBrowse link
G LOC102008593 cholesterol 7-alpha-monooxygenase ISO SMPDB SMP:00315 NCBI chrNW_004955454:17,035,105...17,078,854
Ensembl chrNW_004955454:17,036,204...17,042,756
JBrowse link
G LOC102019604 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004955420:27,988,067...27,990,637 JBrowse link
G LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004955444:14,274,818...14,446,068
Ensembl chrNW_004955444:14,275,345...14,444,426
JBrowse link
G LOC102030124 cholesterol 24-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004955438:20,961,621...20,986,260
Ensembl chrNW_004955438:20,961,365...20,985,749
JBrowse link
G Scp2 sterol carrier protein 2 ISO SMPDB SMP:00315 NCBI chrNW_004955464:6,097,241...6,224,287
Ensembl chrNW_004955464:6,094,758...6,224,287
JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00315 NCBI chrNW_004955584:1,112,387...1,121,500
Ensembl chrNW_004955584:1,112,117...1,121,323
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-CoA acetyltransferase 2 ISO SMPDB SMP:00508 NCBI chrNW_004955439:21,123,886...21,142,562
Ensembl chrNW_004955439:21,122,923...21,142,480
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00508 NCBI chrNW_004955464:4,533,928...4,557,893
Ensembl chrNW_004955464:4,533,928...4,558,133
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00508 NCBI chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370
JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00508 NCBI chrNW_004955403:53,068,011...53,081,499
Ensembl chrNW_004955403:53,067,637...53,081,499
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00508 NCBI chrNW_004955545:1,757,090...1,765,028
Ensembl chrNW_004955545:1,757,418...1,765,028
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00508 NCBI chrNW_004955492:4,582,998...4,593,194
Ensembl chrNW_004955492:4,583,633...4,589,144
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00508 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00508 NCBI chrNW_004955446:18,978,261...18,996,794
Ensembl chrNW_004955446:18,978,102...18,998,951
JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00508 NCBI chrNW_004955462:13,555,488...13,574,506
Ensembl chrNW_004955462:13,557,292...13,574,593
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00508 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
JBrowse link
G LOC102027002 lanosterol 14-alpha demethylase ISO SMPDB SMP:00508 NCBI chrNW_004955432:9,092,923...9,112,615
Ensembl chrNW_004955432:9,092,933...9,112,615
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00508 NCBI chrNW_004955407:42,633,658...42,653,399
Ensembl chrNW_004955407:42,633,658...42,653,399
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00508 NCBI chrNW_004955403:39,991,528...40,009,047
Ensembl chrNW_004955403:39,989,409...40,009,890
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00508 NCBI chrNW_004955541:2,578,584...2,581,823
Ensembl chrNW_004955541:2,579,074...2,581,821
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00508 NCBI chrNW_004955455:8,933,250...8,953,883
Ensembl chrNW_004955455:8,930,125...8,953,894
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00508 NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00508 NCBI chrNW_004955545:1,421,562...1,440,038
Ensembl chrNW_004955545:1,421,562...1,440,038
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00508 NCBI chrNW_004955412:22,274,131...22,288,870
Ensembl chrNW_004955412:22,274,250...22,288,870
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00508 NCBI chrNW_004955406:18,644,351...18,708,666
Ensembl chrNW_004955406:18,655,894...18,706,891
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00508 NCBI chrNW_004955461:121,886...143,389
Ensembl chrNW_004955461:122,528...143,064
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00508 NCBI chrNW_004955422:20,086,994...20,091,707
Ensembl chrNW_004955422:20,086,994...20,091,707
JBrowse link
citrullinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00001 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00001 NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00001 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00001 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00001 NCBI chrNW_004955458:4,055,088...4,065,307
Ensembl chrNW_004955458:4,050,674...4,065,322
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00001 NCBI chrNW_004955510:5,987,811...6,021,001
Ensembl chrNW_004955510:5,988,965...6,020,995
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00001 NCBI chrNW_004955433:16,121,795...16,145,129
Ensembl chrNW_004955433:16,122,824...16,145,113
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00001 NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00001 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00001 NCBI chrNW_004955424:19,474,082...19,499,592
Ensembl chrNW_004955424:19,474,082...19,499,592
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00001 NCBI chrNW_004955574:798,004...806,631 JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00001 NCBI chrNW_004955449:3,093,603...3,182,513
Ensembl chrNW_004955449:3,093,603...3,186,737
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00001 NCBI chrNW_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197
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-CoA oxidase 2 ISO SMPDB SMP:00314 SMP:00318 NCBI chrNW_004955430:1,638,931...1,665,308
Ensembl chrNW_004955430:1,638,431...1,665,141
JBrowse link
G Akr1d1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00314 SMP:00318 NCBI chrNW_004955494:4,799,706...4,856,100
Ensembl chrNW_004955494:4,799,450...4,854,696
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00314 SMP:00318 NCBI chrNW_004955426:19,570,179...19,580,920
Ensembl chrNW_004955426:19,570,070...19,580,818
JBrowse link
G Baat bile acid-CoA:amino acid N-acyltransferase ISO SMPDB SMP:00314 SMP:00318 NCBI chrNW_004955419:24,469,213...24,521,728
Ensembl chrNW_004955419:24,443,172...24,520,467
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00314 SMP:00318 NCBI chrNW_004955425:3,763,302...3,764,432 JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00314 SMP:00318 NCBI chrNW_004955408:39,041,028...39,136,867
Ensembl chrNW_004955408:39,040,840...39,138,338
JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00314 SMP:00318 NCBI chrNW_004955493:7,835,160...7,838,428
Ensembl chrNW_004955493:7,835,160...7,838,428
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00314 SMP:00318 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
JBrowse link
G LOC102004889 sterol 26-hydroxylase, mitochondrial ISO SMPDB SMP:00314 SMP:00318 NCBI chrNW_004955453:14,601,495...14,647,383
Ensembl chrNW_004955453:14,601,444...14,647,366
JBrowse link
G LOC102006164 24-hydroxycholesterol 7-alpha-hydroxylase ISO SMPDB SMP:00314 SMP:00318 NCBI chrNW_004955437:11,444,780...11,497,268
Ensembl chrNW_004955437:11,444,220...11,497,084
JBrowse link
G LOC102008593 cholesterol 7-alpha-monooxygenase ISO SMPDB SMP:00314 SMP:00318 NCBI chrNW_004955454:17,035,105...17,078,854
Ensembl chrNW_004955454:17,036,204...17,042,756
JBrowse link
G LOC102019604 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase ISO SMPDB SMP:00314 SMP:00318 NCBI chrNW_004955420:27,988,067...27,990,637 JBrowse link
G LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase ISO SMPDB SMP:00314 SMP:00318 NCBI chrNW_004955444:14,274,818...14,446,068
Ensembl chrNW_004955444:14,275,345...14,444,426
JBrowse link
G LOC102030124 cholesterol 24-hydroxylase ISO SMPDB SMP:00314 SMP:00318 NCBI chrNW_004955438:20,961,621...20,986,260
Ensembl chrNW_004955438:20,961,365...20,985,749
JBrowse link
G Scp2 sterol carrier protein 2 ISO SMPDB SMP:00314 SMP:00318 NCBI chrNW_004955464:6,097,241...6,224,287
Ensembl chrNW_004955464:6,094,758...6,224,287
JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00314 SMP:00318 NCBI chrNW_004955584:1,112,387...1,121,500
Ensembl chrNW_004955584:1,112,117...1,121,323
JBrowse link
congenital hemidysplasia with ichthyosiform erythroderma and limb defects pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00387 NCBI chrNW_004955439:21,123,886...21,142,562
Ensembl chrNW_004955439:21,122,923...21,142,480
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00387 NCBI chrNW_004955464:4,533,928...4,557,893
Ensembl chrNW_004955464:4,533,928...4,558,133
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00387 NCBI chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370
JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00387 NCBI chrNW_004955403:53,068,011...53,081,499
Ensembl chrNW_004955403:53,067,637...53,081,499
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00387 NCBI chrNW_004955545:1,757,090...1,765,028
Ensembl chrNW_004955545:1,757,418...1,765,028
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00387 NCBI chrNW_004955492:4,582,998...4,593,194
Ensembl chrNW_004955492:4,583,633...4,589,144
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00387 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00387 NCBI chrNW_004955446:18,978,261...18,996,794
Ensembl chrNW_004955446:18,978,102...18,998,951
JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00387 NCBI chrNW_004955462:13,555,488...13,574,506
Ensembl chrNW_004955462:13,557,292...13,574,593
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00387 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
JBrowse link
G LOC102027002 lanosterol 14-alpha demethylase ISO SMPDB SMP:00387 NCBI chrNW_004955432:9,092,923...9,112,615
Ensembl chrNW_004955432:9,092,933...9,112,615
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00387 NCBI chrNW_004955407:42,633,658...42,653,399
Ensembl chrNW_004955407:42,633,658...42,653,399
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00387 NCBI chrNW_004955403:39,991,528...40,009,047
Ensembl chrNW_004955403:39,989,409...40,009,890
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00387 NCBI chrNW_004955541:2,578,584...2,581,823
Ensembl chrNW_004955541:2,579,074...2,581,821
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00387 NCBI chrNW_004955455:8,933,250...8,953,883
Ensembl chrNW_004955455:8,930,125...8,953,894
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00387 NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00387 NCBI chrNW_004955545:1,421,562...1,440,038
Ensembl chrNW_004955545:1,421,562...1,440,038
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00387 NCBI chrNW_004955412:22,274,131...22,288,870
Ensembl chrNW_004955412:22,274,250...22,288,870
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00387 NCBI chrNW_004955406:18,644,351...18,708,666
Ensembl chrNW_004955406:18,655,894...18,706,891
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00387 NCBI chrNW_004955461:121,886...143,389
Ensembl chrNW_004955461:122,528...143,064
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00387 NCBI chrNW_004955422:20,086,994...20,091,707
Ensembl chrNW_004955422:20,086,994...20,091,707
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-alpha-1,6-glucosidase and 4-alpha-glucanotransferase ISO SMPDB SMP:00557 NCBI chrNW_004955435:4,622,142...4,684,439
Ensembl chrNW_004955435:4,621,991...4,688,139
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00557 NCBI chrNW_004955407:10,692,082...10,959,236
Ensembl chrNW_004955407:10,692,303...10,963,489
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00557 NCBI chrNW_004955456:7,784,269...7,838,260
Ensembl chrNW_004955456:7,783,760...7,842,129
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00557 NCBI chrNW_004955468:3,980,999...4,007,553
Ensembl chrNW_004955468:3,980,999...4,008,652
JBrowse link
G Gusb glucuronidase beta ISO SMPDB SMP:00557 NCBI chrNW_004955456:8,377,161...8,392,298
Ensembl chrNW_004955456:8,378,654...8,392,252
JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00557 NCBI chrNW_004955413:17,182,342...17,240,180
Ensembl chrNW_004955413:17,178,983...17,240,213
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00557 NCBI chrNW_004955424:10,897,528...10,966,025
Ensembl chrNW_004955424:10,897,485...10,966,025
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00557 NCBI chrNW_004955423:26,408,775...26,437,527
Ensembl chrNW_004955423:26,408,595...26,437,527
JBrowse link
G Pgm2l1 phosphoglucomutase 2 like 1 ISO SMPDB SMP:00557 NCBI chrNW_004955414:17,240,987...17,310,210
Ensembl chrNW_004955414:17,240,987...17,304,588
JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00557 NCBI chrNW_004955409:11,970,112...12,007,102
Ensembl chrNW_004955409:11,970,112...12,007,102
JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00557 NCBI chrNW_004955448:14,686,315...14,777,298
Ensembl chrNW_004955448:14,685,963...14,777,338
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00557 NCBI chrNW_004955443:7,868,893...7,882,136
Ensembl chrNW_004955443:7,868,893...7,882,129
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00557 NCBI chrNW_004955424:20,444,974...20,490,016
Ensembl chrNW_004955424:20,444,405...20,490,379
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 chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00514 NCBI chrNW_004955423:21,542,587...21,567,935
Ensembl chrNW_004955423:21,542,179...21,567,786
JBrowse link
cystinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 (Colton blood group) ISO SMPDB SMP:00723 NCBI chrNW_004955410:32,066,196...32,078,661
Ensembl chrNW_004955410:32,066,196...32,078,717
JBrowse link
G Aqp2 aquaporin 2 ISO SMPDB SMP:00723 NCBI chrNW_004955547:547,770...555,764
Ensembl chrNW_004955547:547,064...555,958
JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO SMPDB SMP:00723 NCBI chrNW_004955472:2,234,770...2,239,753
Ensembl chrNW_004955472:2,234,770...2,240,027
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00723 NCBI chrNW_004955435:19,537,224...19,563,631
Ensembl chrNW_004955435:19,536,634...19,564,580
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO SMPDB SMP:00723 NCBI chrNW_004955468:11,898,786...11,924,341
Ensembl chrNW_004955468:11,898,915...11,922,400
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00723 NCBI chrNW_004955555:869,508...892,510
Ensembl chrNW_004955555:869,325...893,542
JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00723 NCBI chrNW_004955462:8,072,519...8,095,311
Ensembl chrNW_004955462:8,073,679...8,094,880
JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00723 NCBI chrNW_004955467:9,261,775...9,268,743
Ensembl chrNW_004955467:9,261,775...9,268,743
JBrowse link
G Atp1b3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00723 NCBI chrNW_004955508:3,848,745...3,875,992
Ensembl chrNW_004955508:3,859,399...3,875,276
JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00723 NCBI chrNW_004955572:1,507,290...1,524,359
Ensembl chrNW_004955572:1,507,290...1,524,422
JBrowse link
G Fxyd2 FXYD domain containing ion transport regulator 2 ISO SMPDB SMP:00723 NCBI chrNW_004955412:19,039,635...19,046,172
Ensembl chrNW_004955412:19,039,635...19,046,159
JBrowse link
G Nr3c2 nuclear receptor subfamily 3 group C member 2 ISO SMPDB SMP:00723 NCBI chrNW_004955471:3,059,210...3,397,894
Ensembl chrNW_004955471:3,061,735...3,395,520
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00723 NCBI chrNW_004955413:4,000,083...4,023,596
Ensembl chrNW_004955413:3,999,613...4,023,596
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00723 NCBI chrNW_004955493:1,937,507...1,956,248
Ensembl chrNW_004955493:1,904,220...1,956,303
JBrowse link
G Scnn1d sodium channel epithelial 1 subunit delta ISO SMPDB SMP:00723 NCBI chrNW_004955486:9,508,435...9,514,107 JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00723 NCBI chrNW_004955493:1,787,693...1,813,085
Ensembl chrNW_004955493:1,784,885...1,813,205
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO SMPDB SMP:00723 NCBI chrNW_004955409:5,597,033...5,680,009
Ensembl chrNW_004955409:5,597,033...5,680,009
JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO SMPDB SMP:00723 NCBI chrNW_004955433:14,553,752...14,588,317
Ensembl chrNW_004955433:14,553,758...14,587,602
JBrowse link
G Slc12a6 solute carrier family 12 member 6 ISO SMPDB SMP:00723 NCBI chrNW_004955416:277,215...375,812
Ensembl chrNW_004955416:276,987...375,812
JBrowse link
G Slc14a2 solute carrier family 14 member 2 ISO SMPDB SMP:00723 NCBI chrNW_004955402:30,877,808...31,283,983
Ensembl chrNW_004955402:31,115,937...31,285,228
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO SMPDB SMP:00723 NCBI chrNW_004955434:8,790,685...8,879,757
Ensembl chrNW_004955434:8,790,685...8,879,757
JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO SMPDB SMP:00723 NCBI chrNW_004955439:20,567,241...20,608,281
Ensembl chrNW_004955439:20,567,212...20,609,105
JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO SMPDB SMP:00723 NCBI chrNW_004955599:302,026...307,503
Ensembl chrNW_004955599:301,981...311,447
JBrowse link
G Slc38a4 solute carrier family 38 member 4 ISO SMPDB SMP:00723 NCBI chrNW_004955500:5,859,566...5,925,084
Ensembl chrNW_004955500:5,858,642...5,925,589
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO SMPDB SMP:00723 NCBI chrNW_004955441:11,381,390...11,418,193
Ensembl chrNW_004955441:11,381,441...11,418,025
JBrowse link
G Slc3a2 solute carrier family 3 member 2 ISO SMPDB SMP:00723 NCBI chrNW_004955599:376,133...391,434
Ensembl chrNW_004955599:376,245...391,311
JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO SMPDB SMP:00723 NCBI chrNW_004955541:2,103,437...2,129,668
Ensembl chrNW_004955541:2,103,384...2,130,310
JBrowse link
G Slc7a6 solute carrier family 7 member 6 ISO SMPDB SMP:00723 NCBI chrNW_004955484:8,335,508...8,383,814
Ensembl chrNW_004955484:8,349,622...8,383,475
JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO SMPDB SMP:00723 NCBI chrNW_004955409:37,467,151...37,513,533
Ensembl chrNW_004955409:37,468,583...37,513,533
JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO SMPDB SMP:00723 NCBI chrNW_004955409:37,119,189...37,171,300
Ensembl chrNW_004955409:37,119,378...37,173,310
JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO SMPDB SMP:00723 NCBI chrNW_004955468:5,112,057...5,201,272
Ensembl chrNW_004955468:5,112,161...5,200,266
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 ISO SMPDB SMP:00529 NCBI chrNW_004955437:633,522...642,659
Ensembl chrNW_004955437:633,522...640,838
JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00529 NCBI chrNW_004955467:96,140...105,738
Ensembl chrNW_004955467:96,140...105,738
JBrowse link
G Dgka diacylglycerol kinase alpha ISO SMPDB SMP:00529 NCBI chrNW_004955458:3,517,519...3,544,651
Ensembl chrNW_004955458:3,524,542...3,544,374
JBrowse link
G Gk glycerol kinase ISO SMPDB SMP:00529 NCBI chrNW_004955531:106,761...183,347
Ensembl chrNW_004955531:106,761...183,345
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00529 NCBI chrNW_004955532:3,933,964...3,939,858
Ensembl chrNW_004955532:3,936,160...3,942,868
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00529 NCBI chrNW_004955431:17,291,890...17,363,611
Ensembl chrNW_004955431:17,291,270...17,363,714
JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00529 NCBI chrNW_004955547:676,661...683,906
Ensembl chrNW_004955547:676,342...690,777
JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00529 NCBI chrNW_004955449:16,695,855...16,804,184
Ensembl chrNW_004955449:16,695,435...16,802,908
JBrowse link
G Lipc lipase C, hepatic type ISO SMPDB SMP:00529 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766
JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00529 NCBI chrNW_004955403:43,646,084...43,672,116
Ensembl chrNW_004955403:43,646,084...43,673,967
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00529 NCBI chrNW_004955446:12,201,678...12,279,992
Ensembl chrNW_004955446:12,229,395...12,279,737
JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00529 NCBI chrNW_004955495:7,307,079...7,310,898
Ensembl chrNW_004955495:7,307,079...7,310,955
JBrowse link
desmosterolosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00386 NCBI chrNW_004955439:21,123,886...21,142,562
Ensembl chrNW_004955439:21,122,923...21,142,480
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00386 NCBI chrNW_004955464:4,533,928...4,557,893
Ensembl chrNW_004955464:4,533,928...4,558,133
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00386 NCBI chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370
JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00386 NCBI chrNW_004955403:53,068,011...53,081,499
Ensembl chrNW_004955403:53,067,637...53,081,499
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00386 NCBI chrNW_004955545:1,757,090...1,765,028
Ensembl chrNW_004955545:1,757,418...1,765,028
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00386 NCBI chrNW_004955492:4,582,998...4,593,194
Ensembl chrNW_004955492:4,583,633...4,589,144
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00386 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00386 NCBI chrNW_004955446:18,978,261...18,996,794
Ensembl chrNW_004955446:18,978,102...18,998,951
JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00386 NCBI chrNW_004955462:13,555,488...13,574,506
Ensembl chrNW_004955462:13,557,292...13,574,593
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00386 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
JBrowse link
G LOC102027002 lanosterol 14-alpha demethylase ISO SMPDB SMP:00386 NCBI chrNW_004955432:9,092,923...9,112,615
Ensembl chrNW_004955432:9,092,933...9,112,615
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00386 NCBI chrNW_004955407:42,633,658...42,653,399
Ensembl chrNW_004955407:42,633,658...42,653,399
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00386 NCBI chrNW_004955403:39,991,528...40,009,047
Ensembl chrNW_004955403:39,989,409...40,009,890
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00386 NCBI chrNW_004955541:2,578,584...2,581,823
Ensembl chrNW_004955541:2,579,074...2,581,821
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00386 NCBI chrNW_004955455:8,933,250...8,953,883
Ensembl chrNW_004955455:8,930,125...8,953,894
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00386 NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00386 NCBI chrNW_004955545:1,421,562...1,440,038
Ensembl chrNW_004955545:1,421,562...1,440,038
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00386 NCBI chrNW_004955412:22,274,131...22,288,870
Ensembl chrNW_004955412:22,274,250...22,288,870
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00386 NCBI chrNW_004955406:18,644,351...18,708,666
Ensembl chrNW_004955406:18,655,894...18,706,891
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00386 NCBI chrNW_004955461:121,886...143,389
Ensembl chrNW_004955461:122,528...143,064
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00386 NCBI chrNW_004955422:20,086,994...20,091,707
Ensembl chrNW_004955422:20,086,994...20,091,707
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 chrNW_004955434:8,998,357...9,010,468
Ensembl chrNW_004955434:9,000,158...9,011,250
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00178 NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865
JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00178 NCBI chrNW_004955506:3,707,028...3,722,339
Ensembl chrNW_004955506:3,713,277...3,722,390
JBrowse link
G Cda cytidine deaminase ISO SMPDB SMP:00178 NCBI chrNW_004955452:1,131,968...1,156,777
Ensembl chrNW_004955452:1,132,049...1,156,565
JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00178 NCBI chrNW_004955487:2,010,126...2,024,804
Ensembl chrNW_004955487:2,010,228...2,029,175
JBrowse link
G Ctps1 CTP synthase 1 ISO SMPDB SMP:00178 NCBI chrNW_004955537:773,664...811,084
Ensembl chrNW_004955537:774,002...813,254
JBrowse link
G Dctd dCMP deaminase ISO SMPDB SMP:00178 NCBI chrNW_004955403:25,825,366...25,849,511
Ensembl chrNW_004955403:25,825,672...25,850,862
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00178 NCBI chrNW_004955484:4,699,743...4,713,466
Ensembl chrNW_004955484:4,699,722...4,713,466
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00178 NCBI chrNW_004955435:2,007,185...2,800,907
Ensembl chrNW_004955435:2,007,185...2,766,138
JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00178 NCBI chrNW_004955417:28,183,771...28,244,309
Ensembl chrNW_004955417:28,185,407...28,244,307
JBrowse link
G Dut deoxyuridine triphosphatase ISO SMPDB SMP:00178 NCBI chrNW_004955409:5,574,810...5,584,135
Ensembl chrNW_004955409:5,574,694...5,584,134
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00178 NCBI chrNW_004955434:983,388...1,050,413
Ensembl chrNW_004955434:983,388...1,049,948
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00178 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00178 NCBI chrNW_004955420:24,301,079...24,306,370
Ensembl chrNW_004955420:24,301,081...24,306,493
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00178 NCBI chrNW_004955485:7,318,006...7,394,448
Ensembl chrNW_004955485:7,317,588...7,394,448
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00178 NCBI chrNW_004955487:5,477,097...5,481,422
Ensembl chrNW_004955487:5,476,954...5,483,049
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00178 NCBI chrNW_004955417:26,949,686...26,976,976
Ensembl chrNW_004955417:26,949,686...26,976,726
JBrowse link
G Tk1 thymidine kinase 1 ISO SMPDB SMP:00178 NCBI chrNW_004955506:4,379,830...4,390,729
Ensembl chrNW_004955506:4,379,830...4,394,713
JBrowse link
G Tymp thymidine phosphorylase ISO SMPDB SMP:00178 NCBI chrNW_004955413:33,505,424...33,509,095
Ensembl chrNW_004955413:33,505,446...33,508,748
JBrowse link
G Tyms thymidylate synthetase ISO SMPDB SMP:00178 NCBI chrNW_004955402:9,295,862...9,304,952
Ensembl chrNW_004955402:9,296,321...9,306,631
JBrowse link
G Uckl1 uridine-cytidine kinase 1 like 1 ISO SMPDB SMP:00178 NCBI chrNW_004955528:297,952...311,306
Ensembl chrNW_004955528:297,952...311,306
JBrowse link
G Umps uridine monophosphate synthetase ISO SMPDB SMP:00178 NCBI chrNW_004955427:23,825,529...23,841,427
Ensembl chrNW_004955427:23,825,523...23,841,152
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00178 NCBI chrNW_004955455:7,961,296...7,992,235
Ensembl chrNW_004955455:7,961,264...7,995,946
JBrowse link
G Upp2 uridine phosphorylase 2 ISO SMPDB SMP:00178 NCBI chrNW_004955449:15,355,592...15,405,997
Ensembl chrNW_004955449:15,365,106...15,405,235
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 and serine--pyruvate aminotransferase ISO SMPDB SMP:00179 NCBI chrNW_004955542:710,506...720,564
Ensembl chrNW_004955542:710,005...717,741
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00179 NCBI chrNW_004955532:3,810,469...3,823,456
Ensembl chrNW_004955532:3,810,464...3,823,456
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00179 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00179 NCBI chrNW_004955532:1,351,743...1,358,220
Ensembl chrNW_004955532:1,351,743...1,358,220
JBrowse link
G Bhmt betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00179 NCBI chrNW_004955425:21,992,219...22,009,389
Ensembl chrNW_004955425:21,991,665...22,009,855
JBrowse link
G Cbs cystathionine beta-synthase ISO SMPDB SMP:00179 NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00179 NCBI chrNW_004955423:21,542,587...21,567,935
Ensembl chrNW_004955423:21,542,179...21,567,786
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00179 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00179 NCBI chrNW_004955425:22,045,977...22,103,381
Ensembl chrNW_004955425:22,045,993...22,102,852
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00179 NCBI chrNW_004955495:6,536,541...6,539,424
Ensembl chrNW_004955495:6,536,544...6,539,424
JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00179 NCBI chrNW_004955410:31,778,654...31,819,287
Ensembl chrNW_004955410:31,779,543...31,819,113
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00179 NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603
JBrowse link
G Gcat glycine C-acetyltransferase ISO SMPDB SMP:00179 NCBI chrNW_004955413:24,184,997...24,192,178
Ensembl chrNW_004955413:24,184,997...24,192,229
JBrowse link
G Gldc glycine decarboxylase ISO SMPDB SMP:00179 NCBI chrNW_004955434:10,431,434...10,533,118
Ensembl chrNW_004955434:10,431,983...10,533,002
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00179 NCBI chrNW_004955532:3,933,964...3,939,858
Ensembl chrNW_004955532:3,936,160...3,942,868
JBrowse link
G Gnmt glycine N-methyltransferase ISO SMPDB SMP:00179 NCBI chrNW_004955437:8,944,288...8,946,642
Ensembl chrNW_004955437:8,944,047...8,946,642
JBrowse link
G Maoa amine oxidase [flavin-containing] A ISO SMPDB SMP:00179 NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO SMPDB SMP:00179 NCBI chrNW_004955435:22,757,473...22,803,123
Ensembl chrNW_004955435:22,757,454...22,803,123
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00179 NCBI chrNW_004955512:1,132,452...1,155,405
Ensembl chrNW_004955512:1,132,390...1,155,412
JBrowse link
G Psph phosphoserine phosphatase ISO SMPDB SMP:00179 NCBI chrNW_004955456:8,198,739...8,212,111
Ensembl chrNW_004955456:8,198,739...8,212,025
JBrowse link
G Sardh sarcosine dehydrogenase ISO SMPDB SMP:00179 NCBI chrNW_004955513:2,933,918...2,975,645
Ensembl chrNW_004955513:2,933,918...2,976,931
JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00179 NCBI chrNW_004955435:12,642,485...12,659,833
Ensembl chrNW_004955435:12,641,776...12,660,682
JBrowse link
G Sds serine dehydratase ISO SMPDB SMP:00179 NCBI chrNW_004955482:9,646,523...9,653,471
Ensembl chrNW_004955482:9,643,919...9,653,375
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00179 NCBI chrNW_004955478:10,972,791...11,001,535
Ensembl chrNW_004955478:10,978,139...11,001,202
JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00179 NCBI chrNW_004955458:4,957,614...4,962,691
Ensembl chrNW_004955458:4,957,602...4,962,691
JBrowse link
G Srr serine racemase ISO SMPDB SMP:00179 NCBI chrNW_004955481:919,692...940,066
Ensembl chrNW_004955481:871,654...937,770
JBrowse link
dimethylglycine dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955542:710,506...720,564
Ensembl chrNW_004955542:710,005...717,741
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955532:3,810,469...3,823,456
Ensembl chrNW_004955532:3,810,464...3,823,456
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955532:1,351,743...1,358,220
Ensembl chrNW_004955532:1,351,743...1,358,220
JBrowse link
G Bhmt betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955425:21,992,219...22,009,389
Ensembl chrNW_004955425:21,991,665...22,009,855
JBrowse link
G Cbs cystathionine beta-synthase ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955423:21,542,587...21,567,935
Ensembl chrNW_004955423:21,542,179...21,567,786
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955425:22,045,977...22,103,381
Ensembl chrNW_004955425:22,045,993...22,102,852
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955495:6,536,541...6,539,424
Ensembl chrNW_004955495:6,536,544...6,539,424
JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955410:31,778,654...31,819,287
Ensembl chrNW_004955410:31,779,543...31,819,113
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603
JBrowse link
G Gcat glycine C-acetyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955413:24,184,997...24,192,178
Ensembl chrNW_004955413:24,184,997...24,192,229
JBrowse link
G Gldc glycine decarboxylase ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955434:10,431,434...10,533,118
Ensembl chrNW_004955434:10,431,983...10,533,002
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955532:3,933,964...3,939,858
Ensembl chrNW_004955532:3,936,160...3,942,868
JBrowse link
G Gnmt glycine N-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955437:8,944,288...8,946,642
Ensembl chrNW_004955437:8,944,047...8,946,642
JBrowse link
G Maoa amine oxidase [flavin-containing] A ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955435:22,757,473...22,803,123
Ensembl chrNW_004955435:22,757,454...22,803,123
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955512:1,132,452...1,155,405
Ensembl chrNW_004955512:1,132,390...1,155,412
JBrowse link
G Psph phosphoserine phosphatase ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955456:8,198,739...8,212,111
Ensembl chrNW_004955456:8,198,739...8,212,025
JBrowse link
G Sardh sarcosine dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955513:2,933,918...2,975,645
Ensembl chrNW_004955513:2,933,918...2,976,931
JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955435:12,642,485...12,659,833
Ensembl chrNW_004955435:12,641,776...12,660,682
JBrowse link
G Sds serine dehydratase ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955482:9,646,523...9,653,471
Ensembl chrNW_004955482:9,643,919...9,653,375
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955478:10,972,791...11,001,535
Ensembl chrNW_004955478:10,978,139...11,001,202
JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955458:4,957,614...4,962,691
Ensembl chrNW_004955458:4,957,602...4,962,691
JBrowse link
G Srr serine racemase ISO SMPDB SMP:00242 SMP:00484 NCBI chrNW_004955481:919,692...940,066
Ensembl chrNW_004955481:871,654...937,770
JBrowse link
erythropoietic porphyria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO SMPDB SMP:00345 NCBI chrNW_004955419:14,093,010...14,104,376
Ensembl chrNW_004955419:14,093,010...14,104,545
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00345 NCBI chrNW_004955532:3,810,469...3,823,456
Ensembl chrNW_004955532:3,810,464...3,823,456
JBrowse link
G Blvra biliverdin reductase A ISO SMPDB SMP:00345 NCBI chrNW_004955460:129,077...167,345
Ensembl chrNW_004955460:125,854...167,506
JBrowse link
G Cox15 cytochrome c oxidase assembly factor COX15 ISO SMPDB SMP:00345 NCBI chrNW_004955507:5,600,605...5,617,556
Ensembl chrNW_004955507:5,600,605...5,617,556
JBrowse link
G Cpox coproporphyrinogen oxidase ISO SMPDB SMP:00345 NCBI chrNW_004955427:152,397...163,570
Ensembl chrNW_004955427:152,894...164,030
JBrowse link
G Fech ferrochelatase ISO SMPDB SMP:00345 NCBI chrNW_004955402:41,902,868...41,938,099
Ensembl chrNW_004955402:41,902,868...41,938,174
JBrowse link
G Ftmt ferritin mitochondrial ISO SMPDB SMP:00345 NCBI chrNW_004955521:76,591...77,470 JBrowse link
G Gusb glucuronidase beta ISO SMPDB SMP:00345 NCBI chrNW_004955456:8,377,161...8,392,298
Ensembl chrNW_004955456:8,378,654...8,392,252
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO SMPDB SMP:00345 NCBI chrNW_004955412:20,192,519...20,202,635
Ensembl chrNW_004955412:20,192,522...20,202,635
JBrowse link
G Hmox1 heme oxygenase 1 ISO SMPDB SMP:00345 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
JBrowse link
G LOC102022268 protoheme IX farnesyltransferase, mitochondrial ISO SMPDB SMP:00345 NCBI chrNW_004955467:3,294,200...3,415,778
Ensembl chrNW_004955467:3,292,018...3,415,778
JBrowse link
G Ppox protoporphyrinogen oxidase ISO SMPDB SMP:00345 NCBI chrNW_004955468:12,930,387...12,934,437
Ensembl chrNW_004955468:12,930,495...12,934,437
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO SMPDB SMP:00345 NCBI chrNW_004955464:13,226,271...13,228,908
Ensembl chrNW_004955464:13,221,551...13,229,253
JBrowse link
G Uros uroporphyrinogen III synthase ISO SMPDB SMP:00345 NCBI chrNW_004955477:3,673,583...3,707,761
Ensembl chrNW_004955477:3,673,532...3,707,760
JBrowse link
ethylmalonic encephalopathy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00181 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00181 NCBI chrNW_004955457:5,266,032...5,300,632
Ensembl chrNW_004955457:5,266,033...5,300,056
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00181 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00181 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00181 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00181 NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00181 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00181 NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00181 NCBI chrNW_004955422:17,105,887...17,159,696
Ensembl chrNW_004955422:17,109,256...17,159,838
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00181 NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00181 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00181 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00181 NCBI chrNW_004955469:8,183,945...8,233,869
Ensembl chrNW_004955469:8,183,945...8,233,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00181 NCBI chrNW_004955469:8,233,980...8,272,149
Ensembl chrNW_004955469:8,233,980...8,274,450
JBrowse link
Fabry disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00525 NCBI chrNW_004955495:3,247,170...3,271,417
Ensembl chrNW_004955495:3,247,083...3,271,720
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00525 NCBI chrNW_004955414:14,741,027...14,846,931
Ensembl chrNW_004955414:14,746,529...14,848,151
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00525 NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00525 NCBI chrNW_004955402:18,945,013...19,024,132
Ensembl chrNW_004955402:18,942,872...19,024,132
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00525 NCBI chrNW_004955413:30,658,472...30,693,948
Ensembl chrNW_004955413:30,660,593...30,679,674
JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00525 NCBI chrNW_004955438:21,300,118...21,313,330
Ensembl chrNW_004955438:21,300,118...21,313,330
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00525 NCBI chrNW_004955506:3,151,133...3,154,613
Ensembl chrNW_004955506:3,151,133...3,154,613
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00525 NCBI chrNW_004955455:4,771,378...4,794,085
Ensembl chrNW_004955455:4,771,346...4,784,142
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00525 NCBI chrNW_004955438:10,667,807...10,704,386
Ensembl chrNW_004955438:10,667,807...10,704,384
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00525 NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00525 NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00525 NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00525 NCBI chrNW_004955402:47,092,779...47,130,131
Ensembl chrNW_004955402:47,092,779...47,130,132
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00525 NCBI chrNW_004955414:16,783,996...16,798,368
Ensembl chrNW_004955414:16,788,171...16,798,535
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00525 NCBI chrNW_004955446:12,201,678...12,279,992
Ensembl chrNW_004955446:12,229,395...12,279,737
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00525 NCBI chrNW_004955425:5,507,905...5,819,357
Ensembl chrNW_004955425:5,784,751...5,822,488
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00525 NCBI chrNW_004955437:20,489,641...20,547,105
Ensembl chrNW_004955437:20,488,330...20,547,171
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00525 NCBI chrNW_004955453:11,244,077...11,361,990
Ensembl chrNW_004955453:11,242,647...11,359,569
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00525 NCBI chrNW_004955559:1,921,479...1,929,450
Ensembl chrNW_004955559:1,917,301...1,928,493
JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00525 NCBI chrNW_004955515:57,711...161,012
Ensembl chrNW_004955515:57,711...161,611
JBrowse link
G Sptlc2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00525 NCBI chrNW_004955438:1,385,431...1,491,534
Ensembl chrNW_004955438:1,385,431...1,491,578
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00525 NCBI chrNW_004955419:15,417,468...15,451,936
Ensembl chrNW_004955419:15,416,796...15,451,936
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00525 NCBI chrNW_004955428:24,800,854...24,864,904
Ensembl chrNW_004955428:24,800,854...24,865,378
JBrowse link
familial hypercholanemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO SMPDB SMP:00317 NCBI chrNW_004955430:1,638,931...1,665,308
Ensembl chrNW_004955430:1,638,431...1,665,141
JBrowse link
G Akr1d1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00317 NCBI chrNW_004955494:4,799,706...4,856,100
Ensembl chrNW_004955494:4,799,450...4,854,696
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00317 NCBI chrNW_004955426:19,570,179...19,580,920
Ensembl chrNW_004955426:19,570,070...19,580,818
JBrowse link
G Baat bile acid-CoA:amino acid N-acyltransferase ISO SMPDB SMP:00317 NCBI chrNW_004955419:24,469,213...24,521,728
Ensembl chrNW_004955419:24,443,172...24,520,467
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00317 NCBI chrNW_004955425:3,763,302...3,764,432 JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00317 NCBI chrNW_004955408:39,041,028...39,136,867
Ensembl chrNW_004955408:39,040,840...39,138,338
JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00317 NCBI chrNW_004955493:7,835,160...7,838,428
Ensembl chrNW_004955493:7,835,160...7,838,428
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00317 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
JBrowse link
G LOC102004889 sterol 26-hydroxylase, mitochondrial ISO SMPDB SMP:00317 NCBI chrNW_004955453:14,601,495...14,647,383
Ensembl chrNW_004955453:14,601,444...14,647,366
JBrowse link
G LOC102006164 24-hydroxycholesterol 7-alpha-hydroxylase ISO SMPDB SMP:00317 NCBI chrNW_004955437:11,444,780...11,497,268
Ensembl chrNW_004955437:11,444,220...11,497,084
JBrowse link
G LOC102008593 cholesterol 7-alpha-monooxygenase ISO SMPDB SMP:00317 NCBI chrNW_004955454:17,035,105...17,078,854
Ensembl chrNW_004955454:17,036,204...17,042,756
JBrowse link
G LOC102019604 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase ISO SMPDB SMP:00317 NCBI chrNW_004955420:27,988,067...27,990,637 JBrowse link
G LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase ISO SMPDB SMP:00317 NCBI chrNW_004955444:14,274,818...14,446,068
Ensembl chrNW_004955444:14,275,345...14,444,426
JBrowse link
G LOC102030124 cholesterol 24-hydroxylase ISO SMPDB SMP:00317 NCBI chrNW_004955438:20,961,621...20,986,260
Ensembl chrNW_004955438:20,961,365...20,985,749
JBrowse link
G Scp2 sterol carrier protein 2 ISO SMPDB SMP:00317 NCBI chrNW_004955464:6,097,241...6,224,287
Ensembl chrNW_004955464:6,094,758...6,224,287
JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00317 NCBI chrNW_004955584:1,112,387...1,121,500
Ensembl chrNW_004955584:1,112,117...1,121,323
JBrowse link
familial lipoprotein lipase deficiency 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 ISO SMPDB SMP:00530 NCBI chrNW_004955437:633,522...642,659
Ensembl chrNW_004955437:633,522...640,838
JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00530 NCBI chrNW_004955467:96,140...105,738
Ensembl chrNW_004955467:96,140...105,738
JBrowse link
G Dgka diacylglycerol kinase alpha ISO SMPDB SMP:00530 NCBI chrNW_004955458:3,517,519...3,544,651
Ensembl chrNW_004955458:3,524,542...3,544,374
JBrowse link
G Gk glycerol kinase ISO SMPDB SMP:00530 NCBI chrNW_004955531:106,761...183,347
Ensembl chrNW_004955531:106,761...183,345
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00530 NCBI chrNW_004955532:3,933,964...3,939,858
Ensembl chrNW_004955532:3,936,160...3,942,868
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00530 NCBI chrNW_004955431:17,291,890...17,363,611
Ensembl chrNW_004955431:17,291,270...17,363,714
JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00530 NCBI chrNW_004955547:676,661...683,906
Ensembl chrNW_004955547:676,342...690,777
JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00530 NCBI chrNW_004955449:16,695,855...16,804,184
Ensembl chrNW_004955449:16,695,435...16,802,908
JBrowse link
G Lipc lipase C, hepatic type ISO SMPDB SMP:00530 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766
JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00530 NCBI chrNW_004955403:43,646,084...43,672,116
Ensembl chrNW_004955403:43,646,084...43,673,967
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00530 NCBI chrNW_004955446:12,201,678...12,279,992
Ensembl chrNW_004955446:12,229,395...12,279,737
JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00530 NCBI chrNW_004955495:7,307,079...7,310,898
Ensembl chrNW_004955495:7,307,079...7,310,955
JBrowse link
Fanconi syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00572 NCBI chrNW_004955493:6,904,931...6,910,682
Ensembl chrNW_004955493:6,904,091...6,908,959
JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00572 NCBI chrNW_004955494:7,867,295...7,889,440
Ensembl chrNW_004955494:7,866,693...7,883,641
JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00572 NCBI chrNW_004955486:4,275,371...4,287,152
Ensembl chrNW_004955486:4,274,238...4,289,809
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00572 NCBI chrNW_004955451:16,672,512...16,680,001
Ensembl chrNW_004955451:16,672,979...16,680,001
JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00572 NCBI chrNW_004955441:6,330,520...6,399,522
Ensembl chrNW_004955441:6,330,410...6,403,219
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00572 NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00572 NCBI chrNW_004955468:3,980,999...4,007,553
Ensembl chrNW_004955468:3,980,999...4,008,652
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00572 NCBI chrNW_004955424:10,897,528...10,966,025
Ensembl chrNW_004955424:10,897,485...10,966,025
JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00572 NCBI chrNW_004955425:3,384,023...3,433,808
Ensembl chrNW_004955425:3,384,200...3,432,431
JBrowse link
G Pfkm phosphofructokinase, muscle ISO SMPDB SMP:00572 NCBI chrNW_004955500:6,979,169...7,020,375
Ensembl chrNW_004955500:6,978,893...7,022,309
JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00572 NCBI chrNW_004955507:3,562,513...3,571,400
Ensembl chrNW_004955507:3,562,513...3,571,400
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00572 NCBI chrNW_004955456:7,909,891...7,912,116
Ensembl chrNW_004955456:7,909,891...7,912,116
JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00572 NCBI chrNW_004955545:1,742,432...1,749,632
Ensembl chrNW_004955545:1,739,152...1,749,632
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00572 NCBI chrNW_004955420:1,101,769...1,129,672
Ensembl chrNW_004955420:1,101,769...1,129,715
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00572 NCBI chrNW_004955413:4,467,615...4,471,594
Ensembl chrNW_004955413:4,467,566...4,471,177
JBrowse link
french type sialuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amdhd2 amidohydrolase domain containing 2 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955442:14,775,528...14,791,650
Ensembl chrNW_004955442:14,782,755...14,791,649
JBrowse link
G Chit1 chitinase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955406:39,229,161...39,253,328
Ensembl chrNW_004955406:39,229,356...39,241,540
JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955413:17,575,469...17,596,379
Ensembl chrNW_004955413:17,575,469...17,599,859
JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955424:15,692,088...15,739,894
Ensembl chrNW_004955424:15,692,088...15,739,894
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955472:56,623...92,553
Ensembl chrNW_004955472:45,926...97,082
JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955415:11,770,111...11,783,430
Ensembl chrNW_004955415:11,770,063...11,784,188
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955409:10,406,248...10,424,431
Ensembl chrNW_004955409:10,406,723...10,424,431
JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955437:21,733,314...21,824,303
Ensembl chrNW_004955437:21,731,584...21,816,324
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955424:14,205,689...14,215,201
Ensembl chrNW_004955424:14,205,813...14,215,156
JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955415:31,453,393...31,460,147
Ensembl chrNW_004955415:31,453,393...31,460,386
JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955419:27,424,648...27,449,058
Ensembl chrNW_004955419:27,424,674...27,448,952
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955406:21,633,979...21,670,279
Ensembl chrNW_004955406:21,633,032...21,670,958
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955411:10,904,022...10,925,613
Ensembl chrNW_004955411:10,904,022...10,924,216
JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027
JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955493:8,693,933...8,719,250
Ensembl chrNW_004955493:8,693,679...8,719,250
JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955462:13,765,197...13,799,937
Ensembl chrNW_004955462:13,760,693...13,800,417
JBrowse link
fructose-1,6-bisphosphatase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00562 NCBI chrNW_004955493:6,904,931...6,910,682
Ensembl chrNW_004955493:6,904,091...6,908,959
JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00562 NCBI chrNW_004955494:7,867,295...7,889,440
Ensembl chrNW_004955494:7,866,693...7,883,641
JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00562 NCBI chrNW_004955486:4,275,371...4,287,152
Ensembl chrNW_004955486:4,274,238...4,289,809
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00562 NCBI chrNW_004955422:21,537,337...21,569,174
Ensembl chrNW_004955422:21,536,667...21,569,433
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00562 NCBI chrNW_004955451:16,672,512...16,680,001
Ensembl chrNW_004955451:16,672,979...16,680,001
JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00562 NCBI chrNW_004955441:6,330,520...6,399,522
Ensembl chrNW_004955441:6,330,410...6,403,219
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00562 NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00562 NCBI chrNW_004955468:3,980,999...4,007,553
Ensembl chrNW_004955468:3,980,999...4,008,652
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00562 NCBI chrNW_004955424:10,897,528...10,966,025
Ensembl chrNW_004955424:10,897,485...10,966,025
JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00562 NCBI chrNW_004955456:14,819,406...14,833,547
Ensembl chrNW_004955456:14,819,406...14,837,142
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00562 NCBI chrNW_004955439:15,515,966...15,531,618
Ensembl chrNW_004955439:15,516,090...15,531,116
JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00562 NCBI chrNW_004955425:3,384,023...3,433,808
Ensembl chrNW_004955425:3,384,200...3,432,431
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00562 NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00562 NCBI chrNW_004955445:1,909,012...1,914,032
Ensembl chrNW_004955445:1,908,946...1,915,002
JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00562 NCBI chrNW_004955507:3,562,513...3,571,400
Ensembl chrNW_004955507:3,562,513...3,571,400
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00562 NCBI chrNW_004955456:7,909,891...7,912,116
Ensembl chrNW_004955456:7,909,891...7,912,116
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00562 NCBI chrNW_004955423:26,408,775...26,437,527
Ensembl chrNW_004955423:26,408,595...26,437,527
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00562 NCBI chrNW_004955467:10,349,378...10,352,649
Ensembl chrNW_004955467:10,349,378...10,355,368
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00562 NCBI chrNW_004955420:1,101,769...1,129,672
Ensembl chrNW_004955420:1,101,769...1,129,715
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00562 NCBI chrNW_004955412:20,133,652...20,140,134
Ensembl chrNW_004955412:20,133,652...20,139,542
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00562 NCBI chrNW_004955413:4,467,615...4,471,594
Ensembl chrNW_004955413:4,467,566...4,471,177
JBrowse link
fructosuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00561 NCBI chrNW_004955493:6,904,931...6,910,682
Ensembl chrNW_004955493:6,904,091...6,908,959
JBrowse link
G Aldob aldolase, fructose-bisphosphate B ISO SMPDB SMP:00561 NCBI chrNW_004955419:24,377,427...24,389,909
Ensembl chrNW_004955419:24,377,427...24,389,909
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00561 NCBI chrNW_004955422:21,537,337...21,569,174
Ensembl chrNW_004955422:21,536,667...21,569,433
JBrowse link
G Fcsk fucose kinase ISO SMPDB SMP:00561 NCBI chrNW_004955484:3,259,165...3,278,621
Ensembl chrNW_004955484:3,263,795...3,278,078
JBrowse link
G Fpgt fucose-1-phosphate guanylyltransferase ISO SMPDB SMP:00561 NCBI chrNW_004955423:18,430,520...18,438,760
Ensembl chrNW_004955423:18,431,717...18,439,673
JBrowse link
G Gfus GDP-L-fucose synthase ISO SMPDB SMP:00561 NCBI chrNW_004955454:2,313,172...2,317,829
Ensembl chrNW_004955454:2,313,172...2,317,829
JBrowse link
G Gmds GDP-mannose 4,6-dehydratase ISO SMPDB SMP:00561 NCBI chrNW_004955465:11,133,513...11,562,562
Ensembl chrNW_004955465:11,145,837...11,563,352
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO SMPDB SMP:00561 NCBI chrNW_004955532:1,622,605...1,624,900
Ensembl chrNW_004955532:1,622,605...1,624,900
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00561 NCBI chrNW_004955437:21,733,314...21,824,303
Ensembl chrNW_004955437:21,731,584...21,816,324
JBrowse link
G Khk ketohexokinase ISO SMPDB SMP:00561 NCBI chrNW_004955469:9,058,095...9,071,091
Ensembl chrNW_004955469:9,058,095...9,071,091
JBrowse link
G Mpi mannose phosphate isomerase ISO SMPDB SMP:00561 NCBI chrNW_004955450:3,061,079...3,071,202
Ensembl chrNW_004955450:3,061,079...3,067,585
JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO SMPDB SMP:00561 NCBI chrNW_004955475:2,279,390...2,343,881
Ensembl chrNW_004955475:2,279,390...2,342,750
JBrowse link
G Pfkl phosphofructokinase, liver type ISO SMPDB SMP:00561 NCBI chrNW_004955407:41,131,022...41,145,392
Ensembl chrNW_004955407:41,131,022...41,145,394
JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO SMPDB SMP:00561 NCBI chrNW_004955513:4,930,951...4,932,509
Ensembl chrNW_004955513:4,930,951...4,932,509
JBrowse link
G Pmm1 phosphomannomutase 1 ISO SMPDB SMP:00561 NCBI chrNW_004955413:27,090,291...27,097,088
Ensembl chrNW_004955413:27,090,291...27,097,088
JBrowse link
G Sord sorbitol dehydrogenase ISO SMPDB SMP:00561 NCBI chrNW_004955409:8,305,819...8,333,733
Ensembl chrNW_004955409:8,303,602...8,333,869
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00561 NCBI chrNW_004955413:4,467,615...4,471,594
Ensembl chrNW_004955413:4,467,566...4,471,177
JBrowse link
fumaric aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO SMPDB SMP:00547 NCBI chrNW_004955413:27,027,341...27,065,227
Ensembl chrNW_004955413:27,027,341...27,065,227
JBrowse link
G Cs citrate synthase ISO SMPDB SMP:00547 NCBI chrNW_004955458:3,881,798...3,913,044
Ensembl chrNW_004955458:3,881,798...3,893,401
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00547 NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00547 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00547 NCBI chrNW_004955523:660,413...680,878
Ensembl chrNW_004955523:661,738...680,802
JBrowse link
G Fh fumarate hydratase ISO SMPDB SMP:00547 NCBI chrNW_004955406:10,535,801...10,558,649
Ensembl chrNW_004955406:10,535,323...10,561,627
JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO SMPDB SMP:00547 NCBI chrNW_004955450:685,905...703,593
Ensembl chrNW_004955450:685,905...703,586
JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO SMPDB SMP:00547 NCBI chrNW_004955415:13,642,804...13,649,023
Ensembl chrNW_004955415:13,643,168...13,649,463
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO SMPDB SMP:00547 NCBI chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608
JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00547 NCBI chrNW_004955456:14,819,406...14,833,547
Ensembl chrNW_004955456:14,819,406...14,837,142
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00547 NCBI chrNW_004955439:15,515,966...15,531,618
Ensembl chrNW_004955439:15,516,090...15,531,116
JBrowse link
G Ogdh oxoglutarate dehydrogenase ISO SMPDB SMP:00547 NCBI chrNW_004955456:7,416,343...7,484,889
Ensembl chrNW_004955456:7,415,589...7,485,515
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00547 NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00547 NCBI chrNW_004955586:98,492...114,927
Ensembl chrNW_004955586:97,172...114,928
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00547 NCBI chrNW_004955430:1,707,615...1,713,541
Ensembl chrNW_004955430:1,707,615...1,713,541
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO SMPDB SMP:00547 NCBI chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO SMPDB SMP:00547 NCBI chrNW_004955527:1,769,280...1,792,496
Ensembl chrNW_004955527:1,768,940...1,792,361
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO SMPDB SMP:00547 NCBI chrNW_004955468:13,050,359...13,083,932
Ensembl chrNW_004955468:13,049,848...13,083,156
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO SMPDB SMP:00547 NCBI chrNW_004955412:13,768,501...13,778,944
Ensembl chrNW_004955412:13,768,501...13,778,932
JBrowse link
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO SMPDB SMP:00547 NCBI chrNW_004955424:2,810,557...2,838,827
Ensembl chrNW_004955424:2,810,557...2,842,036
JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO SMPDB SMP:00547 NCBI chrNW_004955421:20,089,471...20,350,334
Ensembl chrNW_004955421:20,089,237...20,350,843
JBrowse link
GABA aminotransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00351 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00351 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00351 NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073
JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO SMPDB SMP:00351 NCBI chrNW_004955402:57,970,205...58,019,980
Ensembl chrNW_004955402:57,970,161...58,019,479
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00351 NCBI chrNW_004955435:2,007,185...2,800,907
Ensembl chrNW_004955435:2,007,185...2,766,138
JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00351 NCBI chrNW_004955417:28,183,771...28,244,309
Ensembl chrNW_004955417:28,185,407...28,244,307
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00351 NCBI chrNW_004955449:3,964,006...4,001,850
Ensembl chrNW_004955449:3,963,705...4,001,850
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00351 NCBI chrNW_004955455:7,961,296...7,992,235
Ensembl chrNW_004955455:7,961,264...7,995,946
JBrowse link
galactokinase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gale UDP-galactose-4-epimerase ISO SMPDB SMP:00495 NCBI chrNW_004955452:3,715,107...3,719,288
Ensembl chrNW_004955452:3,713,080...3,718,425
JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00495 NCBI chrNW_004955506:6,489,799...6,493,354
Ensembl chrNW_004955506:6,489,800...6,493,354
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00495 NCBI chrNW_004955472:1,487,173...1,490,548
Ensembl chrNW_004955472:1,487,173...1,490,986
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00495 NCBI chrNW_004955456:7,784,269...7,838,260
Ensembl chrNW_004955456:7,783,760...7,842,129
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00495 NCBI chrNW_004955423:26,408,775...26,437,527
Ensembl chrNW_004955423:26,408,595...26,437,527
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00495 NCBI chrNW_004955443:7,868,893...7,882,136
Ensembl chrNW_004955443:7,868,893...7,882,129
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00495 NCBI chrNW_004955424:20,444,974...20,490,016
Ensembl chrNW_004955424:20,444,405...20,490,379
JBrowse link
G Uxs1 UDP-glucuronate decarboxylase 1 ISO SMPDB SMP:00495 NCBI chrNW_004955470:10,661,210...10,706,504
Ensembl chrNW_004955470:10,659,520...10,706,269
JBrowse link
galactosemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galt1 beta-1,4-galactosyltransferase 1 ISO SMPDB SMP:00182 NCBI chrNW_004955472:2,490,649...2,536,053
Ensembl chrNW_004955472:2,490,661...2,536,317
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00182 NCBI chrNW_004955451:16,672,512...16,680,001
Ensembl chrNW_004955451:16,672,979...16,680,001
JBrowse link
G Gaa alpha glucosidase ISO SMPDB SMP:00182 NCBI chrNW_004955506:2,764,959...2,783,231
Ensembl chrNW_004955506:2,764,959...2,783,231
JBrowse link
G Gale UDP-galactose-4-epimerase ISO SMPDB SMP:00182 NCBI chrNW_004955452:3,715,107...3,719,288
Ensembl chrNW_004955452:3,713,080...3,718,425
JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00182 NCBI chrNW_004955506:6,489,799...6,493,354
Ensembl chrNW_004955506:6,489,800...6,493,354
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00182 NCBI chrNW_004955472:1,487,173...1,490,548
Ensembl chrNW_004955472:1,487,173...1,490,986
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00182 NCBI chrNW_004955456:7,784,269...7,838,260
Ensembl chrNW_004955456:7,783,760...7,842,129
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00182 NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00182 NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00182 NCBI chrNW_004955437:21,733,314...21,824,303
Ensembl chrNW_004955437:21,731,584...21,816,324
JBrowse link
G Lct lactase ISO SMPDB SMP:00182 NCBI chrNW_004955440:3,148,730...3,197,110
Ensembl chrNW_004955440:3,148,730...3,197,110
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00182 NCBI chrNW_004955423:26,408,775...26,437,527
Ensembl chrNW_004955423:26,408,595...26,437,527
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00182 NCBI chrNW_004955424:20,444,974...20,490,016
Ensembl chrNW_004955424:20,444,405...20,490,379
JBrowse link
GALE deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gale UDP-galactose-4-epimerase ISO SMPDB SMP:00496 NCBI chrNW_004955452:3,715,107...3,719,288
Ensembl chrNW_004955452:3,713,080...3,718,425
JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00496 NCBI chrNW_004955506:6,489,799...6,493,354
Ensembl chrNW_004955506:6,489,800...6,493,354
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00496 NCBI chrNW_004955472:1,487,173...1,490,548
Ensembl chrNW_004955472:1,487,173...1,490,986
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00496 NCBI chrNW_004955456:7,784,269...7,838,260
Ensembl chrNW_004955456:7,783,760...7,842,129
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00496 NCBI chrNW_004955423:26,408,775...26,437,527
Ensembl chrNW_004955423:26,408,595...26,437,527
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00496 NCBI chrNW_004955443:7,868,893...7,882,136
Ensembl chrNW_004955443:7,868,893...7,882,129
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00496 NCBI chrNW_004955424:20,444,974...20,490,016
Ensembl chrNW_004955424:20,444,405...20,490,379
JBrowse link
G Uxs1 UDP-glucuronate decarboxylase 1 ISO SMPDB SMP:00496 NCBI chrNW_004955470:10,661,210...10,706,504
Ensembl chrNW_004955470:10,659,520...10,706,269
JBrowse link
Gaucher's disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00349 NCBI chrNW_004955495:3,247,170...3,271,417
Ensembl chrNW_004955495:3,247,083...3,271,720
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00349 NCBI chrNW_004955414:14,741,027...14,846,931
Ensembl chrNW_004955414:14,746,529...14,848,151
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00349 NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00349 NCBI chrNW_004955402:18,945,013...19,024,132
Ensembl chrNW_004955402:18,942,872...19,024,132
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00349 NCBI chrNW_004955413:30,658,472...30,693,948
Ensembl chrNW_004955413:30,660,593...30,679,674
JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00349 NCBI chrNW_004955438:21,300,118...21,313,330
Ensembl chrNW_004955438:21,300,118...21,313,330
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00349 NCBI chrNW_004955506:3,151,133...3,154,613
Ensembl chrNW_004955506:3,151,133...3,154,613
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00349 NCBI chrNW_004955455:4,771,378...4,794,085
Ensembl chrNW_004955455:4,771,346...4,784,142
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00349 NCBI chrNW_004955438:10,667,807...10,704,386
Ensembl chrNW_004955438:10,667,807...10,704,384
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00349 NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00349 NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00349 NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00349 NCBI chrNW_004955402:47,092,779...47,130,131
Ensembl chrNW_004955402:47,092,779...47,130,132
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00349 NCBI chrNW_004955414:16,783,996...16,798,368
Ensembl chrNW_004955414:16,788,171...16,798,535
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00349 NCBI chrNW_004955446:12,201,678...12,279,992
Ensembl chrNW_004955446:12,229,395...12,279,737
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00349 NCBI chrNW_004955425:5,507,905...5,819,357
Ensembl chrNW_004955425:5,784,751...5,822,488
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00349 NCBI chrNW_004955437:20,489,641...20,547,105
Ensembl chrNW_004955437:20,488,330...20,547,171
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00349 NCBI chrNW_004955453:11,244,077...11,361,990
Ensembl chrNW_004955453:11,242,647...11,359,569
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00349 NCBI chrNW_004955559:1,921,479...1,929,450
Ensembl chrNW_004955559:1,917,301...1,928,493
JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00349 NCBI chrNW_004955515:57,711...161,012
Ensembl chrNW_004955515:57,711...161,611
JBrowse link
G Sptlc2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00349 NCBI chrNW_004955438:1,385,431...1,491,534
Ensembl chrNW_004955438:1,385,431...1,491,578
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00349 NCBI chrNW_004955419:15,417,468...15,451,936
Ensembl chrNW_004955419:15,416,796...15,451,936
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00349 NCBI chrNW_004955428:24,800,854...24,864,904
Ensembl chrNW_004955428:24,800,854...24,865,378
JBrowse link
Glut1 deficiency syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galt1 beta-1,4-galactosyltransferase 1 ISO SMPDB SMP:00580 NCBI chrNW_004955472:2,490,649...2,536,053
Ensembl chrNW_004955472:2,490,661...2,536,317
JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00580 NCBI chrNW_004955506:3,707,028...3,722,339
Ensembl chrNW_004955506:3,713,277...3,722,390
JBrowse link
G Cmpk1 cytidine/uridine monophosphate kinase 1 ISO SMPDB SMP:00580 NCBI chrNW_004955464:11,179,432...11,213,147
Ensembl chrNW_004955464:11,175,014...11,187,133
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00580 NCBI chrNW_004955451:16,672,512...16,680,001
Ensembl chrNW_004955451:16,672,979...16,680,001
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00580 NCBI chrNW_004955472:1,487,173...1,490,548
Ensembl chrNW_004955472:1,487,173...1,490,986
JBrowse link
G Lalba lactalbumin alpha ISO SMPDB SMP:00580 NCBI chrNW_004955500:7,487,603...7,489,573
Ensembl chrNW_004955500:7,487,603...7,489,573
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO SMPDB SMP:00580 NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00580 NCBI chrNW_004955424:20,444,974...20,490,016
Ensembl chrNW_004955424:20,444,405...20,490,379
JBrowse link
glutaric aciduria type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00186 NCBI chrNW_004955479:3,746,003...3,805,835
Ensembl chrNW_004955479:3,742,757...3,814,338
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00185 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00185 NCBI chrNW_004955457:5,266,032...5,300,632
Ensembl chrNW_004955457:5,266,033...5,300,056
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00185 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00185 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00185 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00185 NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00185 NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00186 NCBI chrNW_004955521:4,365,075...4,396,105
Ensembl chrNW_004955521:4,364,638...4,396,129
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00185 NCBI chrNW_004955422:17,105,887...17,159,696
Ensembl chrNW_004955422:17,109,256...17,159,838
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00185 NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00186 NCBI chrNW_004955462:103,501...163,472
Ensembl chrNW_004955462:103,598...162,344
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00186 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00186 NCBI chrNW_004955523:660,413...680,878
Ensembl chrNW_004955523:661,738...680,802
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00185 SMP:00186 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00186 NCBI chrNW_004955496:1,835,034...1,861,410
Ensembl chrNW_004955496:1,835,034...1,861,407
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00185 NCBI chrNW_004955469:8,183,945...8,233,869
Ensembl chrNW_004955469:8,183,945...8,233,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00185 NCBI chrNW_004955469:8,233,980...8,272,149
Ensembl chrNW_004955469:8,233,980...8,274,450
JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00186 NCBI chrNW_004955481:4,128,503...4,225,027
Ensembl chrNW_004955481:4,128,509...4,143,334
JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00186 NCBI chrNW_004955552:2,117,972...2,141,144
Ensembl chrNW_004955552:2,117,755...2,141,231
JBrowse link
glutathione synthase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anpep alanyl aminopeptidase, membrane ISO SMPDB SMP:00143 SMP:00337 NCBI chrNW_004955416:15,415,981...15,442,032
Ensembl chrNW_004955416:15,424,932...15,444,075
JBrowse link
G Casp7 caspase 7 ISO SMPDB SMP:00143 SMP:00337 NCBI chrNW_004955431:18,685,408...18,723,221
Ensembl chrNW_004955431:18,686,190...18,723,524
JBrowse link
G Gclc glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00143 SMP:00337 NCBI chrNW_004955411:2,593,523...2,617,553
Ensembl chrNW_004955411:2,593,541...2,616,539
JBrowse link
G Gclm glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00143 SMP:00337 NCBI chrNW_004955423:782,468...805,384
Ensembl chrNW_004955423:782,468...805,384
JBrowse link
G Ggct gamma-glutamylcyclotransferase ISO SMPDB SMP:00143 SMP:00337 NCBI chrNW_004955410:31,732,272...31,739,020
Ensembl chrNW_004955410:31,731,312...31,739,020
JBrowse link
G Ggt6 gamma-glutamyltransferase 6 ISO SMPDB SMP:00143 SMP:00337 NCBI chrNW_004955467:12,385,525...12,388,806
Ensembl chrNW_004955467:12,385,394...12,389,521
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO SMPDB SMP:00143 SMP:00337 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00143 SMP:00337 NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583
JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00143 SMP:00337 NCBI chrNW_004955422:26,427,581...26,483,380
Ensembl chrNW_004955422:26,427,581...26,463,781
JBrowse link
G Oplah 5-oxoprolinase, ATP-hydrolysing ISO SMPDB SMP:00143 SMP:00337 NCBI chrNW_004955454:2,707,819...2,735,375
Ensembl chrNW_004955454:2,707,819...2,720,992
JBrowse link
glutathionuria disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anpep alanyl aminopeptidase, membrane ISO SMPDB SMP:00501 NCBI chrNW_004955416:15,415,981...15,442,032
Ensembl chrNW_004955416:15,424,932...15,444,075
JBrowse link
G Casp7 caspase 7 ISO SMPDB SMP:00501 NCBI chrNW_004955431:18,685,408...18,723,221
Ensembl chrNW_004955431:18,686,190...18,723,524
JBrowse link
G Gclc glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00501 NCBI chrNW_004955411:2,593,523...2,617,553
Ensembl chrNW_004955411:2,593,541...2,616,539
JBrowse link
G Gclm glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00501 NCBI chrNW_004955423:782,468...805,384
Ensembl chrNW_004955423:782,468...805,384
JBrowse link
G Ggct gamma-glutamylcyclotransferase ISO SMPDB SMP:00501 NCBI chrNW_004955410:31,732,272...31,739,020
Ensembl chrNW_004955410:31,731,312...31,739,020
JBrowse link
G Ggt6 gamma-glutamyltransferase 6 ISO SMPDB SMP:00501 NCBI chrNW_004955467:12,385,525...12,388,806
Ensembl chrNW_004955467:12,385,394...12,389,521
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO SMPDB SMP:00501 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00501 NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583
JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00501 NCBI chrNW_004955422:26,427,581...26,483,380
Ensembl chrNW_004955422:26,427,581...26,463,781
JBrowse link
G Oplah 5-oxoprolinase, ATP-hydrolysing ISO SMPDB SMP:00501 NCBI chrNW_004955454:2,707,819...2,735,375
Ensembl chrNW_004955454:2,707,819...2,720,992
JBrowse link
glycerol kinase deficiency 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 ISO SMPDB SMP:00187 NCBI chrNW_004955437:633,522...642,659
Ensembl chrNW_004955437:633,522...640,838
JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00187 NCBI chrNW_004955467:96,140...105,738
Ensembl chrNW_004955467:96,140...105,738
JBrowse link
G Dgka diacylglycerol kinase alpha ISO SMPDB SMP:00187 NCBI chrNW_004955458:3,517,519...3,544,651
Ensembl chrNW_004955458:3,524,542...3,544,374
JBrowse link
G Gk glycerol kinase ISO SMPDB SMP:00187 NCBI chrNW_004955531:106,761...183,347
Ensembl chrNW_004955531:106,761...183,345
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00187 NCBI chrNW_004955532:3,933,964...3,939,858
Ensembl chrNW_004955532:3,936,160...3,942,868
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00187 NCBI chrNW_004955431:17,291,890...17,363,611
Ensembl chrNW_004955431:17,291,270...17,363,714
JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00187 NCBI chrNW_004955547:676,661...683,906
Ensembl chrNW_004955547:676,342...690,777
JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00187 NCBI chrNW_004955449:16,695,855...16,804,184
Ensembl chrNW_004955449:16,695,435...16,802,908
JBrowse link
G Lipc lipase C, hepatic type ISO SMPDB SMP:00187 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766
JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00187 NCBI chrNW_004955403:43,646,084...43,672,116
Ensembl chrNW_004955403:43,646,084...43,673,967
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00187 NCBI chrNW_004955446:12,201,678...12,279,992
Ensembl chrNW_004955446:12,229,395...12,279,737
JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00187 NCBI chrNW_004955495:7,307,079...7,310,898
Ensembl chrNW_004955495:7,307,079...7,310,955
JBrowse link
glycine N-methyltransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO SMPDB SMP:00222 NCBI chrNW_004955422:26,992,295...27,013,100
Ensembl chrNW_004955422:26,992,295...27,013,100
JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00222 NCBI chrNW_004955411:35,541,517...35,563,209
Ensembl chrNW_004955411:35,541,517...35,563,209
JBrowse link
G Bhmt betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00222 NCBI chrNW_004955425:21,992,219...22,009,389
Ensembl chrNW_004955425:21,991,665...22,009,855
JBrowse link
G Cbs cystathionine beta-synthase ISO SMPDB SMP:00222 NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790
JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00222 NCBI chrNW_004955430:3,797,924...3,831,326
Ensembl chrNW_004955430:3,799,970...3,805,474
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00222 NCBI chrNW_004955423:21,542,587...21,567,935
Ensembl chrNW_004955423:21,542,179...21,567,786
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00222 NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00222 NCBI chrNW_004955559:1,012,634...1,047,051
Ensembl chrNW_004955559:1,034,917...1,047,034
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00222 NCBI chrNW_004955458:5,215,853...5,233,037
Ensembl chrNW_004955458:5,215,853...5,233,037
JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00222 NCBI chrNW_004955424:1,953,623...1,961,164
Ensembl chrNW_004955424:1,953,623...1,961,164
JBrowse link
G Mat2b methionine adenosyltransferase 2 non-catalytic beta subunit ISO SMPDB SMP:00222 NCBI chrNW_004955408:16,910,414...16,924,663
Ensembl chrNW_004955408:16,910,414...16,927,502
JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00222 NCBI chrNW_004955429:5,867,091...5,887,460
Ensembl chrNW_004955429:5,867,091...5,887,587
JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00222 NCBI chrNW_004955458:12,004,928...12,159,625
Ensembl chrNW_004955458:12,004,806...12,159,954
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00222 NCBI chrNW_004955472:12,391,399...12,439,221
Ensembl chrNW_004955472:12,390,032...12,439,206
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00222 NCBI chrNW_004955450:10,399,472...10,415,813
Ensembl chrNW_004955450:10,399,470...10,415,872
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00222 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00222 NCBI chrNW_004955492:3,372,915...3,474,173
Ensembl chrNW_004955492:3,376,512...3,474,180
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00222 NCBI chrNW_004955478:10,972,791...11,001,535
Ensembl chrNW_004955478:10,978,139...11,001,202
JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00222 NCBI chrNW_004955486:2,631,579...2,634,779
Ensembl chrNW_004955486:2,631,586...2,634,527
JBrowse link
glycogen storage disease type Ia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955493:6,904,931...6,910,682
Ensembl chrNW_004955493:6,904,091...6,908,959
JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955494:7,867,295...7,889,440
Ensembl chrNW_004955494:7,866,693...7,883,641
JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955486:4,275,371...4,287,152
Ensembl chrNW_004955486:4,274,238...4,289,809
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955422:21,537,337...21,569,174
Ensembl chrNW_004955422:21,536,667...21,569,433
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955451:16,672,512...16,680,001
Ensembl chrNW_004955451:16,672,979...16,680,001
JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955441:6,330,520...6,399,522
Ensembl chrNW_004955441:6,330,410...6,403,219
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955468:3,980,999...4,007,553
Ensembl chrNW_004955468:3,980,999...4,008,652
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955424:10,897,528...10,966,025
Ensembl chrNW_004955424:10,897,485...10,966,025
JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955456:14,819,406...14,833,547
Ensembl chrNW_004955456:14,819,406...14,837,142
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955439:15,515,966...15,531,618
Ensembl chrNW_004955439:15,516,090...15,531,116
JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955425:3,384,023...3,433,808
Ensembl chrNW_004955425:3,384,200...3,432,431
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955445:1,909,012...1,914,032
Ensembl chrNW_004955445:1,908,946...1,915,002
JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955507:3,562,513...3,571,400
Ensembl chrNW_004955507:3,562,513...3,571,400
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955456:7,909,891...7,912,116
Ensembl chrNW_004955456:7,909,891...7,912,116
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955423:26,408,775...26,437,527
Ensembl chrNW_004955423:26,408,595...26,437,527
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955467:10,349,378...10,352,649
Ensembl chrNW_004955467:10,349,378...10,355,368
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955420:1,101,769...1,129,672
Ensembl chrNW_004955420:1,101,769...1,129,715
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955412:20,133,652...20,140,134
Ensembl chrNW_004955412:20,133,652...20,139,542
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chrNW_004955413:4,467,615...4,471,594
Ensembl chrNW_004955413:4,467,566...4,471,177
JBrowse link
glycogen storage disease type Ib pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00573 NCBI chrNW_004955493:6,904,931...6,910,682
Ensembl chrNW_004955493:6,904,091...6,908,959
JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00573 NCBI chrNW_004955494:7,867,295...7,889,440
Ensembl chrNW_004955494:7,866,693...7,883,641
JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00573 NCBI chrNW_004955486:4,275,371...4,287,152
Ensembl chrNW_004955486:4,274,238...4,289,809
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00573 NCBI chrNW_004955422:21,537,337...21,569,174
Ensembl chrNW_004955422:21,536,667...21,569,433
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00573 NCBI chrNW_004955451:16,672,512...16,680,001
Ensembl chrNW_004955451:16,672,979...16,680,001
JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00573 NCBI chrNW_004955441:6,330,520...6,399,522
Ensembl chrNW_004955441:6,330,410...6,403,219
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00573 NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00573 NCBI chrNW_004955468:3,980,999...4,007,553
Ensembl chrNW_004955468:3,980,999...4,008,652
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00573 NCBI chrNW_004955424:10,897,528...10,966,025
Ensembl chrNW_004955424:10,897,485...10,966,025
JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00573 NCBI chrNW_004955456:14,819,406...14,833,547
Ensembl chrNW_004955456:14,819,406...14,837,142
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00573 NCBI chrNW_004955439:15,515,966...15,531,618
Ensembl chrNW_004955439:15,516,090...15,531,116
JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00573 NCBI chrNW_004955425:3,384,023...3,433,808
Ensembl chrNW_004955425:3,384,200...3,432,431
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00573 NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00573 NCBI chrNW_004955445:1,909,012...1,914,032
Ensembl chrNW_004955445:1,908,946...1,915,002
JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00573 NCBI chrNW_004955507:3,562,513...3,571,400
Ensembl chrNW_004955507:3,562,513...3,571,400
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00573 NCBI chrNW_004955456:7,909,891...7,912,116
Ensembl chrNW_004955456:7,909,891...7,912,116
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00573 NCBI chrNW_004955423:26,408,775...26,437,527
Ensembl chrNW_004955423:26,408,595...26,437,527
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00573 NCBI chrNW_004955467:10,349,378...10,352,649
Ensembl chrNW_004955467:10,349,378...10,355,368
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00573 NCBI chrNW_004955420:1,101,769...1,129,672
Ensembl chrNW_004955420:1,101,769...1,129,715
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00573 NCBI chrNW_004955412:20,133,652...20,140,134
Ensembl chrNW_004955412:20,133,652...20,139,542
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00573 NCBI chrNW_004955413:4,467,615...4,471,594
Ensembl chrNW_004955413:4,467,566...4,471,177
JBrowse link
glycogen storage disease type III pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase ISO SMPDB SMP:00553 NCBI chrNW_004955435:4,622,142...4,684,439
Ensembl chrNW_004955435:4,621,991...4,688,139
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00553 NCBI chrNW_004955407:10,692,082...10,959,236
Ensembl chrNW_004955407:10,692,303...10,963,489
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00553 NCBI chrNW_004955456:7,784,269...7,838,260
Ensembl chrNW_004955456:7,783,760...7,842,129
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00553 NCBI chrNW_004955468:3,980,999...4,007,553
Ensembl chrNW_004955468:3,980,999...4,008,652
JBrowse link
G Gusb glucuronidase beta ISO SMPDB SMP:00553 NCBI chrNW_004955456:8,377,161...8,392,298
Ensembl chrNW_004955456:8,378,654...8,392,252
JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00553 NCBI chrNW_004955413:17,182,342...17,240,180
Ensembl chrNW_004955413:17,178,983...17,240,213
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00553 NCBI chrNW_004955424:10,897,528...10,966,025
Ensembl chrNW_004955424:10,897,485...10,966,025
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00553 NCBI chrNW_004955423:26,408,775...26,437,527
Ensembl chrNW_004955423:26,408,595...26,437,527
JBrowse link
G Pgm2l1 phosphoglucomutase 2 like 1 ISO SMPDB SMP:00553 NCBI chrNW_004955414:17,240,987...17,310,210
Ensembl chrNW_004955414:17,240,987...17,304,588
JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00553 NCBI chrNW_004955409:11,970,112...12,007,102
Ensembl chrNW_004955409:11,970,112...12,007,102
JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00553 NCBI chrNW_004955448:14,686,315...14,777,298
Ensembl chrNW_004955448:14,685,963...14,777,338
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00553 NCBI chrNW_004955443:7,868,893...7,882,136
Ensembl chrNW_004955443:7,868,893...7,882,129
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00553 NCBI chrNW_004955424:20,444,974...20,490,016
Ensembl chrNW_004955424:20,444,405...20,490,379
JBrowse link
glycogen storage disease type IV pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase ISO SMPDB SMP:00554 NCBI chrNW_004955435:4,622,142...4,684,439
Ensembl chrNW_004955435:4,621,991...4,688,139
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00554 NCBI chrNW_004955407:10,692,082...10,959,236
Ensembl chrNW_004955407:10,692,303...10,963,489
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00554 NCBI chrNW_004955456:7,784,269...7,838,260
Ensembl chrNW_004955456:7,783,760...7,842,129
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00554 NCBI chrNW_004955468:3,980,999...4,007,553
Ensembl chrNW_004955468:3,980,999...4,008,652
JBrowse link
G Gusb glucuronidase beta ISO SMPDB SMP:00554 NCBI chrNW_004955456:8,377,161...8,392,298
Ensembl chrNW_004955456:8,378,654...8,392,252
JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00554 NCBI chrNW_004955413:17,182,342...17,240,180
Ensembl chrNW_004955413:17,178,983...17,240,213
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00554 NCBI chrNW_004955424:10,897,528...10,966,025
Ensembl chrNW_004955424:10,897,485...10,966,025
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00554 NCBI chrNW_004955423:26,408,775...26,437,527
Ensembl chrNW_004955423:26,408,595...26,437,527
JBrowse link
G Pgm2l1 phosphoglucomutase 2 like 1 ISO SMPDB SMP:00554 NCBI chrNW_004955414:17,240,987...17,310,210
Ensembl chrNW_004955414:17,240,987...17,304,588
JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00554 NCBI chrNW_004955409:11,970,112...12,007,102
Ensembl chrNW_004955409:11,970,112...12,007,102
JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00554 NCBI chrNW_004955448:14,686,315...14,777,298
Ensembl chrNW_004955448:14,685,963...14,777,338
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00554 NCBI chrNW_004955443:7,868,893...7,882,136
Ensembl chrNW_004955443:7,868,893...7,882,129
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00554 NCBI chrNW_004955424:20,444,974...20,490,016
Ensembl chrNW_004955424:20,444,405...20,490,379
JBrowse link
glycogen storage disease type VI pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase ISO SMPDB SMP:00555 NCBI chrNW_004955435:4,622,142...4,684,439
Ensembl chrNW_004955435:4,621,991...4,688,139
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00555 NCBI chrNW_004955407:10,692,082...10,959,236
Ensembl chrNW_004955407:10,692,303...10,963,489
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00555 NCBI chrNW_004955456:7,784,269...7,838,260
Ensembl chrNW_004955456:7,783,760...7,842,129
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00555 NCBI chrNW_004955468:3,980,999...4,007,553
Ensembl chrNW_004955468:3,980,999...4,008,652
JBrowse link
G Gusb glucuronidase beta ISO SMPDB SMP:00555 NCBI chrNW_004955456:8,377,161...8,392,298
Ensembl chrNW_004955456:8,378,654...8,392,252
JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00555 NCBI chrNW_004955413:17,182,342...17,240,180
Ensembl chrNW_004955413:17,178,983...17,240,213
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00555 NCBI chrNW_004955424:10,897,528...10,966,025
Ensembl chrNW_004955424:10,897,485...10,966,025
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00555 NCBI chrNW_004955423:26,408,775...26,437,527
Ensembl chrNW_004955423:26,408,595...26,437,527
JBrowse link
G Pgm2l1 phosphoglucomutase 2 like 1 ISO SMPDB SMP:00555 NCBI chrNW_004955414:17,240,987...17,310,210
Ensembl chrNW_004955414:17,240,987...17,304,588
JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00555 NCBI chrNW_004955409:11,970,112...12,007,102
Ensembl chrNW_004955409:11,970,112...12,007,102
JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00555 NCBI chrNW_004955448:14,686,315...14,777,298
Ensembl chrNW_004955448:14,685,963...14,777,338
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00555 NCBI chrNW_004955443:7,868,893...7,882,136
Ensembl chrNW_004955443:7,868,893...7,882,129
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00555 NCBI chrNW_004955424:20,444,974...20,490,016
Ensembl chrNW_004955424:20,444,405...20,490,379
JBrowse link
glycogen storage disease type VII pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00531 NCBI chrNW_004955493:6,904,931...6,910,682
Ensembl chrNW_004955493:6,904,091...6,908,959
JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00531 NCBI chrNW_004955494:7,867,295...7,889,440
Ensembl chrNW_004955494:7,866,693...7,883,641
JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00531 NCBI chrNW_004955486:4,275,371...4,287,152
Ensembl chrNW_004955486:4,274,238...4,289,809
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00531 NCBI chrNW_004955451:16,672,512...16,680,001
Ensembl chrNW_004955451:16,672,979...16,680,001
JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00531 NCBI chrNW_004955441:6,330,520...6,399,522
Ensembl chrNW_004955441:6,330,410...6,403,219
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00531 NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00531 NCBI chrNW_004955468:3,980,999...4,007,553
Ensembl chrNW_004955468:3,980,999...4,008,652
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00531 NCBI chrNW_004955424:10,897,528...10,966,025
Ensembl chrNW_004955424:10,897,485...10,966,025
JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00531 NCBI chrNW_004955425:3,384,023...3,433,808
Ensembl chrNW_004955425:3,384,200...3,432,431
JBrowse link
G Pfkm phosphofructokinase, muscle ISO SMPDB SMP:00531 NCBI chrNW_004955500:6,979,169...7,020,375
Ensembl chrNW_004955500:6,978,893...7,022,309
JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00531 NCBI chrNW_004955507:3,562,513...3,571,400
Ensembl chrNW_004955507:3,562,513...3,571,400
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00531 NCBI chrNW_004955456:7,909,891...7,912,116
Ensembl chrNW_004955456:7,909,891...7,912,116
JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00531 NCBI chrNW_004955545:1,742,432...1,749,632
Ensembl chrNW_004955545:1,739,152...1,749,632
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00531 NCBI chrNW_004955420:1,101,769...1,129,672
Ensembl chrNW_004955420:1,101,769...1,129,715
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00531 NCBI chrNW_004955413:4,467,615...4,471,594
Ensembl chrNW_004955413:4,467,566...4,471,177
JBrowse link
Hartnup disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 (Colton blood group) ISO SMPDB SMP:00189 NCBI chrNW_004955410:32,066,196...32,078,661
Ensembl chrNW_004955410:32,066,196...32,078,717
JBrowse link
G Aqp2 aquaporin 2 ISO SMPDB SMP:00189 NCBI chrNW_004955547:547,770...555,764
Ensembl chrNW_004955547:547,064...555,958
JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO SMPDB SMP:00189 NCBI chrNW_004955472:2,234,770...2,239,753
Ensembl chrNW_004955472:2,234,770...2,240,027
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00189 NCBI chrNW_004955435:19,537,224...19,563,631
Ensembl chrNW_004955435:19,536,634...19,564,580
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO SMPDB SMP:00189 NCBI chrNW_004955468:11,898,786...11,924,341
Ensembl chrNW_004955468:11,898,915...11,922,400
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00189 NCBI chrNW_004955555:869,508...892,510
Ensembl chrNW_004955555:869,325...893,542
JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00189 NCBI chrNW_004955462:8,072,519...8,095,311
Ensembl chrNW_004955462:8,073,679...8,094,880
JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00189 NCBI chrNW_004955467:9,261,775...9,268,743
Ensembl chrNW_004955467:9,261,775...9,268,743
JBrowse link
G Atp1b3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00189 NCBI chrNW_004955508:3,848,745...3,875,992
Ensembl chrNW_004955508:3,859,399...3,875,276
JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00189 NCBI chrNW_004955572:1,507,290...1,524,359
Ensembl chrNW_004955572:1,507,290...1,524,422
JBrowse link
G Fxyd2 FXYD domain containing ion transport regulator 2 ISO SMPDB SMP:00189 NCBI chrNW_004955412:19,039,635...19,046,172
Ensembl chrNW_004955412:19,039,635...19,046,159
JBrowse link
G Nr3c2 nuclear receptor subfamily 3 group C member 2 ISO SMPDB SMP:00189 NCBI chrNW_004955471:3,059,210...3,397,894
Ensembl chrNW_004955471:3,061,735...3,395,520
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00189 NCBI chrNW_004955413:4,000,083...4,023,596
Ensembl chrNW_004955413:3,999,613...4,023,596
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00189 NCBI chrNW_004955493:1,937,507...1,956,248
Ensembl chrNW_004955493:1,904,220...1,956,303
JBrowse link
G Scnn1d sodium channel epithelial 1 subunit delta ISO SMPDB SMP:00189 NCBI chrNW_004955486:9,508,435...9,514,107 JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00189 NCBI chrNW_004955493:1,787,693...1,813,085
Ensembl chrNW_004955493:1,784,885...1,813,205
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO SMPDB SMP:00189 NCBI chrNW_004955409:5,597,033...5,680,009
Ensembl chrNW_004955409:5,597,033...5,680,009
JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO SMPDB SMP:00189 NCBI chrNW_004955433:14,553,752...14,588,317
Ensembl chrNW_004955433:14,553,758...14,587,602
JBrowse link
G Slc12a6 solute carrier family 12 member 6 ISO SMPDB SMP:00189 NCBI chrNW_004955416:277,215...375,812
Ensembl chrNW_004955416:276,987...375,812
JBrowse link
G Slc14a2 solute carrier family 14 member 2 ISO SMPDB SMP:00189 NCBI chrNW_004955402:30,877,808...31,283,983
Ensembl chrNW_004955402:31,115,937...31,285,228
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO SMPDB SMP:00189 NCBI chrNW_004955434:8,790,685...8,879,757
Ensembl chrNW_004955434:8,790,685...8,879,757
JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO SMPDB SMP:00189 NCBI chrNW_004955439:20,567,241...20,608,281
Ensembl chrNW_004955439:20,567,212...20,609,105
JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO SMPDB SMP:00189 NCBI chrNW_004955599:302,026...307,503
Ensembl chrNW_004955599:301,981...311,447
JBrowse link
G Slc38a4 solute carrier family 38 member 4 ISO SMPDB SMP:00189 NCBI chrNW_004955500:5,859,566...5,925,084
Ensembl chrNW_004955500:5,858,642...5,925,589
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO SMPDB SMP:00189 NCBI chrNW_004955441:11,381,390...11,418,193
Ensembl chrNW_004955441:11,381,441...11,418,025
JBrowse link
G Slc3a2 solute carrier family 3 member 2 ISO SMPDB SMP:00189 NCBI chrNW_004955599:376,133...391,434
Ensembl chrNW_004955599:376,245...391,311
JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO SMPDB SMP:00189 NCBI chrNW_004955541:2,103,437...2,129,668
Ensembl chrNW_004955541:2,103,384...2,130,310
JBrowse link
G Slc7a6 solute carrier family 7 member 6 ISO SMPDB SMP:00189 NCBI chrNW_004955484:8,335,508...8,383,814
Ensembl chrNW_004955484:8,349,622...8,383,475
JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO SMPDB SMP:00189 NCBI chrNW_004955409:37,467,151...37,513,533
Ensembl chrNW_004955409:37,468,583...37,513,533
JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO SMPDB SMP:00189 NCBI chrNW_004955409:37,119,189...37,171,300
Ensembl chrNW_004955409:37,119,378...37,173,310
JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO SMPDB SMP:00189 NCBI chrNW_004955468:5,112,057...5,201,272
Ensembl chrNW_004955468:5,112,161...5,200,266
JBrowse link
hawkinsinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00190 NCBI chrNW_004955467:96,140...105,738
Ensembl chrNW_004955467:96,140...105,738
JBrowse link
G Aoc1 amine oxidase copper containing 1 ISO SMPDB SMP:00190 NCBI chrNW_004955491:5,316,482...5,326,262
Ensembl chrNW_004955491:5,316,476...5,326,305
JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00190 NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412
JBrowse link
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00190 NCBI chrNW_004955513:2,918,085...2,932,481
Ensembl chrNW_004955513:2,918,286...2,932,247
JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00190 NCBI chrNW_004955404:15,359,402...15,395,556
Ensembl chrNW_004955404:15,359,402...15,395,535
JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00190 NCBI chrNW_004955456:3,513,779...3,582,851
Ensembl chrNW_004955456:3,513,042...3,582,911
JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00190 NCBI chrNW_004955533:904,294...921,730
Ensembl chrNW_004955533:904,295...921,730
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00190 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00190 NCBI chrNW_004955438:1,218,990...1,231,407
Ensembl chrNW_004955438:1,219,018...1,231,287
JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00190 NCBI chrNW_004955441:10,114,863...10,128,948
Ensembl chrNW_004955441:10,110,380...10,129,015
JBrowse link
G Hgd homogentisate 1,2-dioxygenase ISO SMPDB SMP:00190 NCBI chrNW_004955427:20,141,522...20,188,700
Ensembl chrNW_004955427:20,137,861...20,188,700
JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00190 NCBI chrNW_004955482:6,586,975...6,595,034
Ensembl chrNW_004955482:6,586,975...6,595,034
JBrowse link
G Maoa amine oxidase [flavin-containing] A ISO SMPDB SMP:00190 NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317
JBrowse link
G Mif macrophage migration inhibitory factor ISO SMPDB SMP:00190 NCBI chrNW_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460
JBrowse link
G Pnmt phenylethanolamine N-methyltransferase ISO SMPDB SMP:00190 NCBI chrNW_004955451:14,414,836...14,417,972
Ensembl chrNW_004955451:14,416,121...14,417,901
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00190 NCBI chrNW_004955484:4,278,083...4,287,535
Ensembl chrNW_004955484:4,276,953...4,287,627
JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00190 NCBI chrNW_004955414:4,244,035...4,314,001
Ensembl chrNW_004955414:4,244,035...4,314,001
JBrowse link
hereditary coproporphyria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO SMPDB SMP:00342 NCBI chrNW_004955419:14,093,010...14,104,376
Ensembl chrNW_004955419:14,093,010...14,104,545
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00342 NCBI chrNW_004955532:3,810,469...3,823,456
Ensembl chrNW_004955532:3,810,464...3,823,456
JBrowse link
G Blvra biliverdin reductase A ISO SMPDB SMP:00342 NCBI chrNW_004955460:129,077...167,345
Ensembl chrNW_004955460:125,854...167,506
JBrowse link
G Cox15 cytochrome c oxidase assembly factor COX15 ISO SMPDB SMP:00342 NCBI chrNW_004955507:5,600,605...5,617,556
Ensembl chrNW_004955507:5,600,605...5,617,556
JBrowse link
G Cpox coproporphyrinogen oxidase ISO SMPDB SMP:00342 NCBI chrNW_004955427:152,397...163,570
Ensembl chrNW_004955427:152,894...164,030
JBrowse link
G Fech ferrochelatase ISO SMPDB SMP:00342 NCBI chrNW_004955402:41,902,868...41,938,099
Ensembl chrNW_004955402:41,902,868...41,938,174
JBrowse link
G Ftmt ferritin mitochondrial ISO SMPDB SMP:00342 NCBI chrNW_004955521:76,591...77,470 JBrowse link
G Gusb glucuronidase beta ISO SMPDB SMP:00342 NCBI chrNW_004955456:8,377,161...8,392,298
Ensembl chrNW_004955456:8,378,654...8,392,252
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO SMPDB SMP:00342 NCBI chrNW_004955412:20,192,519...20,202,635
Ensembl chrNW_004955412:20,192,522...20,202,635
JBrowse link
G Hmox1 heme oxygenase 1 ISO SMPDB SMP:00342 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
JBrowse link
G LOC102022268 protoheme IX farnesyltransferase, mitochondrial ISO SMPDB SMP:00342 NCBI chrNW_004955467:3,294,200...3,415,778
Ensembl chrNW_004955467:3,292,018...3,415,778
JBrowse link
G Ppox protoporphyrinogen oxidase ISO SMPDB SMP:00342 NCBI chrNW_004955468:12,930,387...12,934,437
Ensembl chrNW_004955468:12,930,495...12,934,437
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO SMPDB SMP:00342 NCBI chrNW_004955464:13,226,271...13,228,908
Ensembl chrNW_004955464:13,221,551...13,229,253
JBrowse link
G Uros uroporphyrinogen III synthase ISO SMPDB SMP:00342 NCBI chrNW_004955477:3,673,583...3,707,761
Ensembl chrNW_004955477:3,673,532...3,707,760
JBrowse link
hereditary fructose intolerance syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00725 NCBI chrNW_004955493:6,904,931...6,910,682
Ensembl chrNW_004955493:6,904,091...6,908,959
JBrowse link
G Aldob aldolase, fructose-bisphosphate B ISO SMPDB SMP:00725 NCBI chrNW_004955419:24,377,427...24,389,909
Ensembl chrNW_004955419:24,377,427...24,389,909
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00725 NCBI chrNW_004955422:21,537,337...21,569,174
Ensembl chrNW_004955422:21,536,667...21,569,433
JBrowse link
G Fcsk fucose kinase ISO SMPDB SMP:00725 NCBI chrNW_004955484:3,259,165...3,278,621
Ensembl chrNW_004955484:3,263,795...3,278,078
JBrowse link
G Fpgt fucose-1-phosphate guanylyltransferase ISO SMPDB SMP:00725 NCBI chrNW_004955423:18,430,520...18,438,760
Ensembl chrNW_004955423:18,431,717...18,439,673
JBrowse link
G Gfus GDP-L-fucose synthase ISO SMPDB SMP:00725 NCBI chrNW_004955454:2,313,172...2,317,829
Ensembl chrNW_004955454:2,313,172...2,317,829
JBrowse link
G Gmds GDP-mannose 4,6-dehydratase ISO SMPDB SMP:00725 NCBI chrNW_004955465:11,133,513...11,562,562
Ensembl chrNW_004955465:11,145,837...11,563,352
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO SMPDB SMP:00725 NCBI chrNW_004955532:1,622,605...1,624,900
Ensembl chrNW_004955532:1,622,605...1,624,900
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00725 NCBI chrNW_004955437:21,733,314...21,824,303
Ensembl chrNW_004955437:21,731,584...21,816,324
JBrowse link
G Khk ketohexokinase ISO SMPDB SMP:00725 NCBI chrNW_004955469:9,058,095...9,071,091
Ensembl chrNW_004955469:9,058,095...9,071,091
JBrowse link
G Mpi mannose phosphate isomerase ISO SMPDB SMP:00725 NCBI chrNW_004955450:3,061,079...3,071,202
Ensembl chrNW_004955450:3,061,079...3,067,585
JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO SMPDB SMP:00725 NCBI chrNW_004955475:2,279,390...2,343,881
Ensembl chrNW_004955475:2,279,390...2,342,750
JBrowse link
G Pfkl phosphofructokinase, liver type ISO SMPDB SMP:00725 NCBI chrNW_004955407:41,131,022...41,145,392
Ensembl chrNW_004955407:41,131,022...41,145,394
JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO SMPDB SMP:00725 NCBI chrNW_004955513:4,930,951...4,932,509
Ensembl chrNW_004955513:4,930,951...4,932,509
JBrowse link
G Pmm1 phosphomannomutase 1 ISO SMPDB SMP:00725 NCBI chrNW_004955413:27,090,291...27,097,088
Ensembl chrNW_004955413:27,090,291...27,097,088
JBrowse link
G Sord sorbitol dehydrogenase ISO SMPDB SMP:00725 NCBI chrNW_004955409:8,305,819...8,333,733
Ensembl chrNW_004955409:8,303,602...8,333,869
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00725 NCBI chrNW_004955413:4,467,615...4,471,594
Ensembl chrNW_004955413:4,467,566...4,471,177
JBrowse link
histidinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00191 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00191 NCBI chrNW_004955467:96,140...105,738
Ensembl chrNW_004955467:96,140...105,738
JBrowse link
G Amdhd1 amidohydrolase domain containing 1 ISO SMPDB SMP:00191 NCBI chrNW_004955405:32,281,726...32,308,230
Ensembl chrNW_004955405:32,283,413...32,308,230
JBrowse link
G Aoc1 amine oxidase copper containing 1 ISO SMPDB SMP:00191 NCBI chrNW_004955491:5,316,482...5,326,262
Ensembl chrNW_004955491:5,316,476...5,326,305
JBrowse link
G Carns1 carnosine synthase 1 ISO SMPDB SMP:00191 NCBI chrNW_004955422:18,051,721...18,061,500
Ensembl chrNW_004955422:18,051,721...18,061,487
JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO SMPDB SMP:00191 NCBI chrNW_004955402:57,970,205...58,019,980
Ensembl chrNW_004955402:57,970,161...58,019,479
JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO SMPDB SMP:00191 NCBI chrNW_004955402:57,939,003...57,960,056
Ensembl chrNW_004955402:57,938,276...57,960,056
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO SMPDB SMP:00191 NCBI chrNW_004955407:42,608,249...42,617,167
Ensembl chrNW_004955407:42,607,872...42,617,166
JBrowse link
G Hal histidine ammonia-lyase ISO SMPDB SMP:00191 NCBI chrNW_004955405:32,317,345...32,341,409
Ensembl chrNW_004955405:32,316,326...32,341,485
JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO SMPDB SMP:00191 NCBI chrNW_004955418:19,346...30,514
Ensembl chrNW_004955418:19,346...30,514
JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00191 NCBI chrNW_004955418:12,550...19,282
Ensembl chrNW_004955418:12,550...19,282
JBrowse link
G Hdc histidine decarboxylase ISO SMPDB SMP:00191 NCBI chrNW_004955409:4,051,574...4,072,641
Ensembl chrNW_004955409:4,051,271...4,072,642
JBrowse link
G Hnmt histamine N-methyltransferase ISO SMPDB SMP:00191 NCBI chrNW_004955440:5,084,198...5,137,577
Ensembl chrNW_004955440:5,084,081...5,139,348
JBrowse link
G Maoa amine oxidase [flavin-containing] A ISO SMPDB SMP:00191 NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317
JBrowse link
G Prmt3 protein arginine methyltransferase 3 ISO SMPDB SMP:00191 NCBI chrNW_004955476:1,222,579...1,331,582
Ensembl chrNW_004955476:1,223,076...1,331,582
JBrowse link
G Uroc1 urocanate hydratase 1 ISO SMPDB SMP:00191 NCBI chrNW_004955421:21,734,910...21,765,754
Ensembl chrNW_004955421:21,732,262...21,765,772
JBrowse link
holocarboxylase synthetase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btd biotinidase ISO SMPDB SMP:00564 NCBI chrNW_004955430:7,960,036...7,988,754
Ensembl chrNW_004955430:7,960,039...7,988,754
JBrowse link
G Hlcs holocarboxylase synthetase ISO SMPDB SMP:00564 NCBI chrNW_004955407:35,870,820...36,062,066
Ensembl chrNW_004955407:35,873,826...36,074,868
JBrowse link
G Spcs1 signal peptidase complex subunit 1 ISO SMPDB SMP:00564 NCBI chrNW_004955430:2,689,927...2,692,119
Ensembl chrNW_004955430:2,689,927...2,692,119
JBrowse link
homocarnosinosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00385 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00385 NCBI chrNW_004955527:338,593...369,528
Ensembl chrNW_004955527:338,593...372,872
JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family member A1 ISO SMPDB SMP:00385 NCBI chrNW_004955483:2,467,425...2,494,416
Ensembl chrNW_004955483:2,467,425...2,494,416
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00385 NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00385 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00385 NCBI chrNW_004955493:2,083,272...2,113,403
Ensembl chrNW_004955493:2,090,940...2,113,843
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00385 NCBI chrNW_004955449:3,964,006...4,001,850
Ensembl chrNW_004955449:3,963,705...4,001,850
JBrowse link
G Gclc glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00385 NCBI chrNW_004955411:2,593,523...2,617,553
Ensembl chrNW_004955411:2,593,541...2,616,539
JBrowse link
G Gclm glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00385 NCBI chrNW_004955423:782,468...805,384
Ensembl chrNW_004955423:782,468...805,384
JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00385 NCBI chrNW_004955424:15,692,088...15,739,894
Ensembl chrNW_004955424:15,692,088...15,739,894
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00385 NCBI chrNW_004955458:4,055,088...4,065,307
Ensembl chrNW_004955458:4,050,674...4,065,322
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00385 NCBI chrNW_004955510:5,987,811...6,021,001
Ensembl chrNW_004955510:5,988,965...6,020,995
JBrowse link
G Glul glutamate-ammonia ligase ISO SMPDB SMP:00385 NCBI chrNW_004955406:21,266,383...21,274,546
Ensembl chrNW_004955406:21,266,383...21,275,309
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00385 NCBI chrNW_004955448:6,931,891...6,984,662
Ensembl chrNW_004955448:6,932,926...6,984,662
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00385 NCBI chrNW_004955409:10,406,248...10,424,431
Ensembl chrNW_004955409:10,406,723...10,424,431
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00385 NCBI chrNW_004955433:16,121,795...16,145,129
Ensembl chrNW_004955433:16,122,824...16,145,113
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00385 NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00385 NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583
JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00385 NCBI chrNW_004955422:26,427,581...26,483,380
Ensembl chrNW_004955422:26,427,581...26,463,781
JBrowse link
G Nadsyn1 NAD synthetase 1 ISO SMPDB SMP:00385 NCBI chrNW_004955422:15,067,711...15,113,942
Ensembl chrNW_004955422:15,066,708...15,114,049
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00385 NCBI chrNW_004955424:14,205,689...14,215,201
Ensembl chrNW_004955424:14,205,813...14,215,156
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00385 NCBI chrNW_004955447:14,552,846...14,607,416
Ensembl chrNW_004955447:14,574,407...14,607,416
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00385 NCBI chrNW_004955532:1,093,444...1,100,591
Ensembl chrNW_004955532:1,092,125...1,100,603
JBrowse link
homocystinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO SMPDB SMP:00177 NCBI chrNW_004955422:26,992,295...27,013,100
Ensembl chrNW_004955422:26,992,295...27,013,100
JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00177 NCBI chrNW_004955411:35,541,517...35,563,209
Ensembl chrNW_004955411:35,541,517...35,563,209
JBrowse link
G Bhmt betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00177 NCBI chrNW_004955425:21,992,219...22,009,389
Ensembl chrNW_004955425:21,991,665...22,009,855
JBrowse link
G Cbs cystathionine beta-synthase ISO SMPDB SMP:00177 SMP:00515 NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790
JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00177 NCBI chrNW_004955430:3,797,924...3,831,326
Ensembl chrNW_004955430:3,799,970...3,805,474
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00177 SMP:00515 NCBI chrNW_004955423:21,542,587...21,567,935
Ensembl chrNW_004955423:21,542,179...21,567,786
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00177 NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00177 NCBI chrNW_004955559:1,012,634...1,047,051
Ensembl chrNW_004955559:1,034,917...1,047,034
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00177 NCBI chrNW_004955458:5,215,853...5,233,037
Ensembl chrNW_004955458:5,215,853...5,233,037
JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00177 NCBI chrNW_004955424:1,953,623...1,961,164
Ensembl chrNW_004955424:1,953,623...1,961,164
JBrowse link
G Mat2b methionine adenosyltransferase 2 non-catalytic beta subunit ISO SMPDB SMP:00177 NCBI chrNW_004955408:16,910,414...16,924,663
Ensembl chrNW_004955408:16,910,414...16,927,502
JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00177 NCBI chrNW_004955429:5,867,091...5,887,460
Ensembl chrNW_004955429:5,867,091...5,887,587
JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00177 NCBI chrNW_004955458:12,004,928...12,159,625
Ensembl chrNW_004955458:12,004,806...12,159,954
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00177 NCBI chrNW_004955472:12,391,399...12,439,221
Ensembl chrNW_004955472:12,390,032...12,439,206
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00177 NCBI chrNW_004955450:10,399,472...10,415,813
Ensembl chrNW_004955450:10,399,470...10,415,872
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00177 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00177 NCBI chrNW_004955492:3,372,915...3,474,173
Ensembl chrNW_004955492:3,376,512...3,474,180
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00177 NCBI chrNW_004955478:10,972,791...11,001,535
Ensembl chrNW_004955478:10,978,139...11,001,202
JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00177 NCBI chrNW_004955486:2,631,579...2,634,779
Ensembl chrNW_004955486:2,631,586...2,634,527
JBrowse link
hyperargininemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00357 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00357 NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00357 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00357 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00357 NCBI chrNW_004955458:4,055,088...4,065,307
Ensembl chrNW_004955458:4,050,674...4,065,322
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00357 NCBI chrNW_004955510:5,987,811...6,021,001
Ensembl chrNW_004955510:5,988,965...6,020,995
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00357 NCBI chrNW_004955433:16,121,795...16,145,129
Ensembl chrNW_004955433:16,122,824...16,145,113
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00357 NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00357 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00357 NCBI chrNW_004955424:19,474,082...19,499,592
Ensembl chrNW_004955424:19,474,082...19,499,592
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00357 NCBI chrNW_004955574:798,004...806,631 JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00357 NCBI chrNW_004955449:3,093,603...3,182,513
Ensembl chrNW_004955449:3,093,603...3,186,737
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00357 NCBI chrNW_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197
JBrowse link
hyperlysinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00527 NCBI chrNW_004955479:3,746,003...3,805,835
Ensembl chrNW_004955479:3,742,757...3,814,338
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00527 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00527 NCBI chrNW_004955521:4,365,075...4,396,105
Ensembl chrNW_004955521:4,364,638...4,396,129
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00527 NCBI chrNW_004955462:103,501...163,472
Ensembl chrNW_004955462:103,598...162,344
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00527 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00527 NCBI chrNW_004955523:660,413...680,878
Ensembl chrNW_004955523:661,738...680,802
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00527 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chrNW_004955496:1,835,034...1,861,410
Ensembl chrNW_004955496:1,835,034...1,861,407
JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00527 NCBI chrNW_004955481:4,128,503...4,225,027
Ensembl chrNW_004955481:4,128,509...4,143,334
JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00527 NCBI chrNW_004955552:2,117,972...2,141,144
Ensembl chrNW_004955552:2,117,755...2,141,231
JBrowse link
hypermethioninemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO SMPDB SMP:00341 NCBI chrNW_004955422:26,992,295...27,013,100
Ensembl chrNW_004955422:26,992,295...27,013,100
JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00341 NCBI chrNW_004955411:35,541,517...35,563,209
Ensembl chrNW_004955411:35,541,517...35,563,209
JBrowse link
G Bhmt betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00341 NCBI chrNW_004955425:21,992,219...22,009,389
Ensembl chrNW_004955425:21,991,665...22,009,855
JBrowse link
G Cbs cystathionine beta-synthase ISO SMPDB SMP:00341 NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790
JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00341 NCBI chrNW_004955430:3,797,924...3,831,326
Ensembl chrNW_004955430:3,799,970...3,805,474
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00341 NCBI chrNW_004955423:21,542,587...21,567,935
Ensembl chrNW_004955423:21,542,179...21,567,786
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00341 NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00341 NCBI chrNW_004955559:1,012,634...1,047,051
Ensembl chrNW_004955559:1,034,917...1,047,034
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00341 NCBI chrNW_004955458:5,215,853...5,233,037
Ensembl chrNW_004955458:5,215,853...5,233,037
JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00341 NCBI chrNW_004955424:1,953,623...1,961,164
Ensembl chrNW_004955424:1,953,623...1,961,164
JBrowse link
G Mat2b methionine adenosyltransferase 2 non-catalytic beta subunit ISO SMPDB SMP:00341 NCBI chrNW_004955408:16,910,414...16,924,663
Ensembl chrNW_004955408:16,910,414...16,927,502
JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00341 NCBI chrNW_004955429:5,867,091...5,887,460
Ensembl chrNW_004955429:5,867,091...5,887,587
JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00341 NCBI chrNW_004955458:12,004,928...12,159,625
Ensembl chrNW_004955458:12,004,806...12,159,954
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00341 NCBI chrNW_004955472:12,391,399...12,439,221
Ensembl chrNW_004955472:12,390,032...12,439,206
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00341 NCBI chrNW_004955450:10,399,472...10,415,813
Ensembl chrNW_004955450:10,399,470...10,415,872
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00341 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00341 NCBI chrNW_004955492:3,372,915...3,474,173
Ensembl chrNW_004955492:3,376,512...3,474,180
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00341 NCBI chrNW_004955478:10,972,791...11,001,535
Ensembl chrNW_004955478:10,978,139...11,001,202
JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00341 NCBI chrNW_004955486:2,631,579...2,634,779
Ensembl chrNW_004955486:2,631,586...2,634,527
JBrowse link
hyperprolinemia type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00361 NCBI chrNW_004955527:338,593...369,528
Ensembl chrNW_004955527:338,593...372,872
JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00361 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00361 NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00361 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00361 NCBI chrNW_004955538:2,379,868...2,380,771 JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00361 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Dao D-amino acid oxidase ISO SMPDB SMP:00361 NCBI chrNW_004955455:10,095,597...10,127,244
Ensembl chrNW_004955455:10,095,300...10,127,666
JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00361 NCBI chrNW_004955520:3,550,558...3,606,015
Ensembl chrNW_004955520:3,550,558...3,606,697
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00361 NCBI chrNW_004955495:6,536,541...6,539,424
Ensembl chrNW_004955495:6,536,544...6,539,424
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00361 NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00361 NCBI chrNW_004955510:5,987,811...6,021,001
Ensembl chrNW_004955510:5,988,965...6,020,995
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00361 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00361 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00361 NCBI chrNW_004955477:2,430,146...2,450,135
Ensembl chrNW_004955477:2,429,776...2,450,624
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00361 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00361 NCBI chrNW_004955414:17,344,512...17,376,564
Ensembl chrNW_004955414:17,344,509...17,376,564
JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00361 NCBI chrNW_004955489:138,600...143,112
Ensembl chrNW_004955489:138,600...143,112
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00361 NCBI chrNW_004955411:14,470,479...14,527,895
Ensembl chrNW_004955411:14,470,479...14,527,895
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00361 NCBI chrNW_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197
JBrowse link
hyperprolinemia type II pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00360 NCBI chrNW_004955527:338,593...369,528
Ensembl chrNW_004955527:338,593...372,872
JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00360 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00360 NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00360 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00360 NCBI chrNW_004955538:2,379,868...2,380,771 JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00360 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Dao D-amino acid oxidase ISO SMPDB SMP:00360 NCBI chrNW_004955455:10,095,597...10,127,244
Ensembl chrNW_004955455:10,095,300...10,127,666
JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00360 NCBI chrNW_004955520:3,550,558...3,606,015
Ensembl chrNW_004955520:3,550,558...3,606,697
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00360 NCBI chrNW_004955495:6,536,541...6,539,424
Ensembl chrNW_004955495:6,536,544...6,539,424
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00360 NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00360 NCBI chrNW_004955510:5,987,811...6,021,001
Ensembl chrNW_004955510:5,988,965...6,020,995
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00360 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00360 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00360 NCBI chrNW_004955477:2,430,146...2,450,135
Ensembl chrNW_004955477:2,429,776...2,450,624
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00360 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00360 NCBI chrNW_004955414:17,344,512...17,376,564
Ensembl chrNW_004955414:17,344,509...17,376,564
JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00360 NCBI chrNW_004955489:138,600...143,112
Ensembl chrNW_004955489:138,600...143,112
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00360 NCBI chrNW_004955411:14,470,479...14,527,895
Ensembl chrNW_004955411:14,470,479...14,527,895
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00360 NCBI chrNW_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197
JBrowse link
hypophosphatasia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO SMPDB SMP:00503 NCBI chrNW_004955452:1,820,212...1,873,877
Ensembl chrNW_004955452:1,820,174...1,874,226
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00503 NCBI chrNW_004955403:827,538...875,856
Ensembl chrNW_004955403:828,066...872,218
JBrowse link
G Pdxk pyridoxal kinase ISO SMPDB SMP:00503 NCBI chrNW_004955407:41,482,216...41,494,174
Ensembl chrNW_004955407:41,482,216...41,494,177
JBrowse link
G Pdxp pyridoxal phosphatase ISO SMPDB SMP:00503 NCBI chrNW_004955413:24,055,900...24,063,902
Ensembl chrNW_004955413:24,057,308...24,063,902
JBrowse link
G Pnpo pyridoxamine 5'-phosphate oxidase ISO SMPDB SMP:00503 NCBI chrNW_004955451:13,184,861...13,190,933
Ensembl chrNW_004955451:13,183,826...13,191,707
JBrowse link
isobutyryl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00523 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00523 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00523 NCBI chrNW_004955412:35,067,637...35,083,889
Ensembl chrNW_004955412:35,067,702...35,083,889
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00523 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00523 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00523 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00523 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00523 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00523 NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00523 NCBI chrNW_004955403:827,538...875,856
Ensembl chrNW_004955403:828,066...872,218
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00523 NCBI chrNW_004955515:971,778...1,124,019
Ensembl chrNW_004955515:971,800...1,123,474
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00523 NCBI chrNW_004955413:19,975,395...20,087,656
Ensembl chrNW_004955413:19,981,328...20,087,638
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00523 NCBI chrNW_004955555:334,253...357,417
Ensembl chrNW_004955555:333,642...358,799
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00523 NCBI chrNW_004955411:8,427,875...8,626,564
Ensembl chrNW_004955411:8,437,548...8,628,363
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00523 NCBI chrNW_004955435:4,975,664...5,005,126
Ensembl chrNW_004955435:4,973,830...5,017,816
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00523 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00523 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00523 NCBI chrNW_004955410:29,180,411...29,294,273
Ensembl chrNW_004955410:29,180,184...29,294,315
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00523 NCBI chrNW_004955403:8,752,339...8,796,693
Ensembl chrNW_004955403:8,752,309...8,792,927
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00523 NCBI chrNW_004955452:3,720,103...3,734,730
Ensembl chrNW_004955452:3,720,103...3,735,192
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00523 NCBI chrNW_004955435:22,804,484...22,820,807
Ensembl chrNW_004955435:22,804,484...22,821,482
JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00523 NCBI chrNW_004955475:478,690...481,029
Ensembl chrNW_004955475:478,690...481,029
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00523 NCBI chrNW_004955416:7,327,557...7,341,533
Ensembl chrNW_004955416:7,327,557...7,346,027
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00523 NCBI chrNW_004955420:11,781,662...11,828,060
Ensembl chrNW_004955420:11,781,104...11,820,338
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00523 NCBI chrNW_004955575:445,627...503,891
Ensembl chrNW_004955575:445,619...505,040
JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00523 NCBI chrNW_004955416:29,684,557...29,703,495
Ensembl chrNW_004955416:29,685,385...29,698,557
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00523 NCBI chrNW_004955411:8,363,142...8,397,839
Ensembl chrNW_004955411:8,363,142...8,399,216
JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00523 NCBI chrNW_004955426:25,885,518...25,998,187
Ensembl chrNW_004955426:25,885,518...26,003,743
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00523 NCBI chrNW_004955404:10,317,640...10,719,148
Ensembl chrNW_004955404:10,317,640...10,661,496
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00523 NCBI chrNW_004955501:2,474,330...2,563,107
Ensembl chrNW_004955501:2,474,330...2,563,837
JBrowse link
isovaleric acidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955412:35,067,637...35,083,889
Ensembl chrNW_004955412:35,067,702...35,083,889
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955403:827,538...875,856
Ensembl chrNW_004955403:828,066...872,218
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955515:971,778...1,124,019
Ensembl chrNW_004955515:971,800...1,123,474
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955413:19,975,395...20,087,656
Ensembl chrNW_004955413:19,981,328...20,087,638
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955555:334,253...357,417
Ensembl chrNW_004955555:333,642...358,799
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955411:8,427,875...8,626,564
Ensembl chrNW_004955411:8,437,548...8,628,363
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955435:4,975,664...5,005,126
Ensembl chrNW_004955435:4,973,830...5,017,816
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955410:29,180,411...29,294,273
Ensembl chrNW_004955410:29,180,184...29,294,315
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955403:8,752,339...8,796,693
Ensembl chrNW_004955403:8,752,309...8,792,927
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955452:3,720,103...3,734,730
Ensembl chrNW_004955452:3,720,103...3,735,192
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955435:22,804,484...22,820,807
Ensembl chrNW_004955435:22,804,484...22,821,482
JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955475:478,690...481,029
Ensembl chrNW_004955475:478,690...481,029
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955416:7,327,557...7,341,533
Ensembl chrNW_004955416:7,327,557...7,346,027
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955420:11,781,662...11,828,060
Ensembl chrNW_004955420:11,781,104...11,820,338
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955575:445,627...503,891
Ensembl chrNW_004955575:445,619...505,040
JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955416:29,684,557...29,703,495
Ensembl chrNW_004955416:29,685,385...29,698,557
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955411:8,363,142...8,397,839
Ensembl chrNW_004955411:8,363,142...8,399,216
JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955426:25,885,518...25,998,187
Ensembl chrNW_004955426:25,885,518...26,003,743
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955404:10,317,640...10,719,148
Ensembl chrNW_004955404:10,317,640...10,661,496
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00238 SMP:00524 NCBI chrNW_004955501:2,474,330...2,563,107
Ensembl chrNW_004955501:2,474,330...2,563,837
JBrowse link
Krabbe disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00348 NCBI chrNW_004955495:3,247,170...3,271,417
Ensembl chrNW_004955495:3,247,083...3,271,720
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00348 NCBI chrNW_004955414:14,741,027...14,846,931
Ensembl chrNW_004955414:14,746,529...14,848,151
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00348 NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00348 NCBI chrNW_004955402:18,945,013...19,024,132
Ensembl chrNW_004955402:18,942,872...19,024,132
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00348 NCBI chrNW_004955413:30,658,472...30,693,948
Ensembl chrNW_004955413:30,660,593...30,679,674
JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00348 NCBI chrNW_004955438:21,300,118...21,313,330
Ensembl chrNW_004955438:21,300,118...21,313,330
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00348 NCBI chrNW_004955506:3,151,133...3,154,613
Ensembl chrNW_004955506:3,151,133...3,154,613
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00348 NCBI chrNW_004955455:4,771,378...4,794,085
Ensembl chrNW_004955455:4,771,346...4,784,142
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00348 NCBI chrNW_004955438:10,667,807...10,704,386
Ensembl chrNW_004955438:10,667,807...10,704,384
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00348 NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00348 NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00348 NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00348 NCBI chrNW_004955402:47,092,779...47,130,131
Ensembl chrNW_004955402:47,092,779...47,130,132
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00348 NCBI chrNW_004955414:16,783,996...16,798,368
Ensembl chrNW_004955414:16,788,171...16,798,535
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00348 NCBI chrNW_004955446:12,201,678...12,279,992
Ensembl chrNW_004955446:12,229,395...12,279,737
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00348 NCBI chrNW_004955425:5,507,905...5,819,357
Ensembl chrNW_004955425:5,784,751...5,822,488
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00348 NCBI chrNW_004955437:20,489,641...20,547,105
Ensembl chrNW_004955437:20,488,330...20,547,171
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00348 NCBI chrNW_004955453:11,244,077...11,361,990
Ensembl chrNW_004955453:11,242,647...11,359,569
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00348 NCBI chrNW_004955559:1,921,479...1,929,450
Ensembl chrNW_004955559:1,917,301...1,928,493
JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00348 NCBI chrNW_004955515:57,711...161,012
Ensembl chrNW_004955515:57,711...161,611
JBrowse link
G Sptlc2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00348 NCBI chrNW_004955438:1,385,431...1,491,534
Ensembl chrNW_004955438:1,385,431...1,491,578
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00348 NCBI chrNW_004955419:15,417,468...15,451,936
Ensembl chrNW_004955419:15,416,796...15,451,936
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00348 NCBI chrNW_004955428:24,800,854...24,864,904
Ensembl chrNW_004955428:24,800,854...24,865,378
JBrowse link
Leigh disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaca acetyl-CoA carboxylase alpha ISO SMPDB SMP:00196 NCBI chrNW_004955451:679,033...909,892
Ensembl chrNW_004955451:600,254...909,892
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00196 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00196 NCBI chrNW_004955418:28,829,316...28,872,629
Ensembl chrNW_004955418:28,829,144...28,875,486
JBrowse link
G Acss2 acyl-CoA synthetase short chain family member 2 ISO SMPDB SMP:00196 NCBI chrNW_004955422:26,450,899...26,500,336
Ensembl chrNW_004955422:26,451,598...26,500,546
JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00196 NCBI chrNW_004955523:499,508...507,809
Ensembl chrNW_004955523:499,508...508,273
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00196 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00196 NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00196 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Glo1 glyoxalase I ISO SMPDB SMP:00196 NCBI chrNW_004955437:4,728,709...4,749,834
Ensembl chrNW_004955437:4,728,709...4,749,834
JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00196 NCBI chrNW_004955419:29,032,591...29,044,046
Ensembl chrNW_004955419:29,032,600...29,044,257
JBrowse link
G Hagh hydroxyacylglutathione hydrolase ISO SMPDB SMP:00196 NCBI chrNW_004955442:15,451,910...15,465,211
Ensembl chrNW_004955442:15,451,910...15,465,211
JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00196 NCBI chrNW_004955484:2,461,545...2,466,702
Ensembl chrNW_004955484:2,460,762...2,466,702
JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00196 NCBI chrNW_004955424:20,707,765...20,723,493
Ensembl chrNW_004955424:20,706,058...20,723,493
JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00196 NCBI chrNW_004955411:10,938,580...11,084,171
Ensembl chrNW_004955411:10,938,944...11,065,085
JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00196 NCBI chrNW_004955402:35,816,474...35,894,051
Ensembl chrNW_004955402:35,835,578...35,894,051
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00196 NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00196 NCBI chrNW_004955445:1,909,012...1,914,032
Ensembl chrNW_004955445:1,908,946...1,915,002
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00196 NCBI chrNW_004955586:98,492...114,927
Ensembl chrNW_004955586:97,172...114,928
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00196 NCBI chrNW_004955430:1,707,615...1,713,541
Ensembl chrNW_004955430:1,707,615...1,713,541
JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00196 NCBI chrNW_004955545:1,742,432...1,749,632
Ensembl chrNW_004955545:1,739,152...1,749,632
JBrowse link
Lesch-Nyhan syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00364 NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00364 NCBI chrNW_004955462:9,196,984...9,278,850
Ensembl chrNW_004955462:9,207,314...9,278,621
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00364 NCBI chrNW_004955413:26,067,463...26,084,669
Ensembl chrNW_004955413:26,067,516...26,088,527
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00364 NCBI chrNW_004955406:7,684,979...7,715,179
Ensembl chrNW_004955406:7,683,596...7,715,616
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00364 NCBI chrNW_004955419:799,415...807,138
Ensembl chrNW_004955419:799,410...811,029
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00364 NCBI chrNW_004955435:17,962,487...17,991,625
Ensembl chrNW_004955435:17,962,514...17,991,556
JBrowse link
G Aprt adenine phosphoribosyltransferase ISO SMPDB SMP:00364 NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906
JBrowse link
G Atad1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00364 NCBI chrNW_004955425:5,118,107...5,180,578
Ensembl chrNW_004955425:5,117,964...5,180,578
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00364 NCBI chrNW_004955457:704,213...729,702
Ensembl chrNW_004955457:704,213...730,134
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00364 NCBI chrNW_004955424:11,739,904...11,773,884
Ensembl chrNW_004955424:11,738,859...11,773,902
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00364 NCBI chrNW_004955523:1,407,812...1,441,829
Ensembl chrNW_004955523:1,421,749...1,441,829
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00364 NCBI chrNW_004955513:5,352,843...5,357,671
Ensembl chrNW_004955513:5,353,229...5,356,019
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00364 NCBI chrNW_004955407:32,944,638...32,975,142
Ensembl chrNW_004955407:32,944,164...32,973,863
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00364 NCBI chrNW_004955434:983,388...1,050,413
Ensembl chrNW_004955434:983,388...1,049,948
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00364 NCBI chrNW_004955483:9,559,079...9,608,807
Ensembl chrNW_004955483:9,559,079...9,608,953
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00364 NCBI chrNW_004955448:6,931,891...6,984,662
Ensembl chrNW_004955448:6,932,926...6,984,662
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00364 NCBI chrNW_004955412:9,218,029...9,480,333
Ensembl chrNW_004955412:9,225,305...9,480,206
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00364 NCBI chrNW_004955471:11,303,478...11,349,512
Ensembl chrNW_004955471:11,303,242...11,351,190
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00364 NCBI chrNW_004955581:299,010...305,032
Ensembl chrNW_004955581:299,280...305,032
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00364 NCBI chrNW_004955473:462,940...510,006
Ensembl chrNW_004955473:461,957...496,196
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00364 NCBI chrNW_004955479:9,388,241...9,406,717
Ensembl chrNW_004955479:9,388,108...9,406,764
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00364 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00364 NCBI chrNW_004955420:24,301,079...24,306,370
Ensembl chrNW_004955420:24,301,081...24,306,493
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00364 NCBI chrNW_004955485:7,318,006...7,394,448
Ensembl chrNW_004955485:7,317,588...7,394,448
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00364 NCBI chrNW_004955472:1,760,046...1,774,539
Ensembl chrNW_004955472:1,759,900...1,774,539
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00364 NCBI chrNW_004955462:190,872...211,975
Ensembl chrNW_004955462:190,999...203,736
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00364 NCBI chrNW_004955447:14,558,468...14,571,081
Ensembl chrNW_004955447:14,558,468...14,574,052
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00364 NCBI chrNW_004955439:16,114,530...16,370,648
Ensembl chrNW_004955439:16,114,530...16,365,146
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00364 NCBI chrNW_004955446:7,914,326...9,252,527
Ensembl chrNW_004955446:8,211,877...9,252,653
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00364 NCBI chrNW_004955467:8,640,044...8,660,950
Ensembl chrNW_004955467:8,640,044...8,660,979
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00364 NCBI chrNW_004955550:1,290,816...1,299,553
Ensembl chrNW_004955550:1,290,244...1,298,068
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00364 NCBI chrNW_004955447:14,552,846...14,607,416
Ensembl chrNW_004955447:14,574,407...14,607,416
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00364 NCBI chrNW_004955410:20,987,289...20,988,852 JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00364 NCBI chrNW_004955414:19,850,523...19,904,879
Ensembl chrNW_004955414:19,850,530...19,905,266
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00364 NCBI chrNW_004955487:5,477,097...5,481,422
Ensembl chrNW_004955487:5,476,954...5,483,049
JBrowse link
leukotriene C4 synthase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO SMPDB SMP:00353 NCBI chrNW_004955467:8,876,186...8,887,980
Ensembl chrNW_004955467:8,876,027...8,888,033
JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO SMPDB SMP:00353 NCBI chrNW_004955467:10,032,792...10,039,789
Ensembl chrNW_004955467:10,032,792...10,039,323
JBrowse link
G Alox15b arachidonate 15-lipoxygenase type B ISO SMPDB SMP:00353 NCBI chrNW_004955467:8,896,740...8,906,032
Ensembl chrNW_004955467:8,895,095...8,906,009
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO SMPDB SMP:00353 NCBI chrNW_004955546:2,495,226...2,550,909
Ensembl chrNW_004955546:2,494,819...2,550,909
JBrowse link
G Cbr1 carbonyl reductase 1 ISO SMPDB SMP:00353 NCBI chrNW_004955407:35,351,601...35,354,510
Ensembl chrNW_004955407:35,349,330...35,354,403
JBrowse link
G Ephx2 epoxide hydrolase 2 ISO SMPDB SMP:00353 NCBI chrNW_004955403:49,999,563...50,038,800
Ensembl chrNW_004955403:49,999,563...50,041,572
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO SMPDB SMP:00353 NCBI chrNW_004955455:8,082,578...8,099,523
Ensembl chrNW_004955455:8,068,710...8,099,584
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO SMPDB SMP:00353 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G LOC102026028 cytochrome P450 2E1 ISO SMPDB SMP:00353 NCBI chrNW_004955507:6,293,162...6,303,255
Ensembl chrNW_004955507:6,289,576...6,304,193
JBrowse link
G LOC102028874 cytochrome P450 2U1 ISO SMPDB SMP:00353 NCBI chrNW_004955496:1,873,031...1,887,840
Ensembl chrNW_004955496:1,875,401...1,882,542
JBrowse link
G Lta4h leukotriene A4 hydrolase ISO SMPDB SMP:00353 NCBI chrNW_004955405:32,345,005...32,377,685
Ensembl chrNW_004955405:32,344,925...32,378,384
JBrowse link
G Ltc4s leukotriene C4 synthase ISO SMPDB SMP:00353 NCBI chrNW_004955408:788,856...791,505 JBrowse link
G Pla2g4b phospholipase A2 group IVB ISO SMPDB SMP:00353 NCBI chrNW_004955416:8,633,249...8,643,219
Ensembl chrNW_004955416:8,634,184...8,642,833
JBrowse link
G Prxl2b peroxiredoxin like 2B ISO SMPDB SMP:00353 NCBI chrNW_004955486:8,663,708...8,666,369
Ensembl chrNW_004955486:8,663,595...8,666,469
JBrowse link
G Ptgds prostaglandin D2 synthase ISO SMPDB SMP:00353 NCBI chrNW_004955513:5,009,530...5,012,781
Ensembl chrNW_004955513:5,009,625...5,012,781
JBrowse link
G Ptges prostaglandin E synthase ISO SMPDB SMP:00353 NCBI chrNW_004955445:10,053,745...10,056,981 JBrowse link
G Ptgis prostaglandin I2 synthase ISO SMPDB SMP:00353 NCBI chrNW_004955445:8,624,228...8,663,385
Ensembl chrNW_004955445:8,623,430...8,677,658
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO SMPDB SMP:00353 NCBI chrNW_004955419:5,678,750...5,699,305
Ensembl chrNW_004955419:5,678,694...5,699,305
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO SMPDB SMP:00353 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
JBrowse link
G Tbxas1 thromboxane A synthase 1 ISO SMPDB SMP:00353 NCBI chrNW_004955494:3,161,032...3,321,974
Ensembl chrNW_004955494:3,160,653...3,334,411
JBrowse link
lipoid congenital adrenal hyperplasia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1d1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00371 NCBI chrNW_004955494:4,799,706...4,856,100
Ensembl chrNW_004955494:4,799,450...4,854,696
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00371 NCBI chrNW_004955489:2,500,928...2,524,715
Ensembl chrNW_004955489:2,497,680...2,524,805
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00371 NCBI chrNW_004955484:9,206,681...9,212,356
Ensembl chrNW_004955484:9,206,681...9,212,356
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00371 NCBI chrNW_004955435:22,414,605...22,421,682 JBrowse link
G LOC102008255 steroid 21-hydroxylase ISO SMPDB SMP:00371 NCBI chrNW_004955437:513,052...516,792
Ensembl chrNW_004955437:513,052...516,792
JBrowse link
G LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase ISO SMPDB SMP:00371 NCBI chrNW_004955485:7,615,132...7,652,899
Ensembl chrNW_004955485:7,645,363...7,650,658
JBrowse link
G LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial ISO SMPDB SMP:00371 NCBI chrNW_004955450:3,433,310...3,484,462
Ensembl chrNW_004955450:3,474,491...3,484,232
JBrowse link
lysinuric protein intolerance pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 (Colton blood group) ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955410:32,066,196...32,078,661
Ensembl chrNW_004955410:32,066,196...32,078,717
JBrowse link
G Aqp2 aquaporin 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955547:547,770...555,764
Ensembl chrNW_004955547:547,064...555,958
JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955472:2,234,770...2,239,753
Ensembl chrNW_004955472:2,234,770...2,240,027
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955435:19,537,224...19,563,631
Ensembl chrNW_004955435:19,536,634...19,564,580
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955468:11,898,786...11,924,341
Ensembl chrNW_004955468:11,898,915...11,922,400
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955555:869,508...892,510
Ensembl chrNW_004955555:869,325...893,542
JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955462:8,072,519...8,095,311
Ensembl chrNW_004955462:8,073,679...8,094,880
JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955467:9,261,775...9,268,743
Ensembl chrNW_004955467:9,261,775...9,268,743
JBrowse link
G Atp1b3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955508:3,848,745...3,875,992
Ensembl chrNW_004955508:3,859,399...3,875,276
JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955572:1,507,290...1,524,359
Ensembl chrNW_004955572:1,507,290...1,524,422
JBrowse link
G Fxyd2 FXYD domain containing ion transport regulator 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955412:19,039,635...19,046,172
Ensembl chrNW_004955412:19,039,635...19,046,159
JBrowse link
G Nr3c2 nuclear receptor subfamily 3 group C member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955471:3,059,210...3,397,894
Ensembl chrNW_004955471:3,061,735...3,395,520
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955413:4,000,083...4,023,596
Ensembl chrNW_004955413:3,999,613...4,023,596
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955493:1,937,507...1,956,248
Ensembl chrNW_004955493:1,904,220...1,956,303
JBrowse link
G Scnn1d sodium channel epithelial 1 subunit delta ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955486:9,508,435...9,514,107 JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955493:1,787,693...1,813,085
Ensembl chrNW_004955493:1,784,885...1,813,205
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955409:5,597,033...5,680,009
Ensembl chrNW_004955409:5,597,033...5,680,009
JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955433:14,553,752...14,588,317
Ensembl chrNW_004955433:14,553,758...14,587,602
JBrowse link
G Slc12a6 solute carrier family 12 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955416:277,215...375,812
Ensembl chrNW_004955416:276,987...375,812
JBrowse link
G Slc14a2 solute carrier family 14 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955402:30,877,808...31,283,983
Ensembl chrNW_004955402:31,115,937...31,285,228
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955434:8,790,685...8,879,757
Ensembl chrNW_004955434:8,790,685...8,879,757
JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955439:20,567,241...20,608,281
Ensembl chrNW_004955439:20,567,212...20,609,105
JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955599:302,026...307,503
Ensembl chrNW_004955599:301,981...311,447
JBrowse link
G Slc38a4 solute carrier family 38 member 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955500:5,859,566...5,925,084
Ensembl chrNW_004955500:5,858,642...5,925,589
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955441:11,381,390...11,418,193
Ensembl chrNW_004955441:11,381,441...11,418,025
JBrowse link
G Slc3a2 solute carrier family 3 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955599:376,133...391,434
Ensembl chrNW_004955599:376,245...391,311
JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955541:2,103,437...2,129,668
Ensembl chrNW_004955541:2,103,384...2,130,310
JBrowse link
G Slc7a6 solute carrier family 7 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955484:8,335,508...8,383,814
Ensembl chrNW_004955484:8,349,622...8,383,475
JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955409:37,467,151...37,513,533
Ensembl chrNW_004955409:37,468,583...37,513,533
JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955409:37,119,189...37,171,300
Ensembl chrNW_004955409:37,119,378...37,173,310
JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO SMPDB SMP:00197 SMP:00585 NCBI chrNW_004955468:5,112,057...5,201,272
Ensembl chrNW_004955468:5,112,161...5,200,266
JBrowse link
malonic 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:00198 SMP:00502 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO SMPDB SMP:00198 SMP:00502 NCBI chrNW_004955451:679,033...909,892
Ensembl chrNW_004955451:600,254...909,892
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00198 SMP:00502 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00198 SMP:00502 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acss1 acyl-CoA synthetase short chain family member 1 ISO SMPDB SMP:00198 SMP:00502 NCBI chrNW_004955415:31,117,542...31,154,654
Ensembl chrNW_004955415:31,117,303...31,154,654
JBrowse link
G Acss3 acyl-CoA synthetase short chain family member 3 ISO SMPDB SMP:00198 SMP:00502 NCBI chrNW_004955405:19,677,191...19,836,086
Ensembl chrNW_004955405:19,677,537...19,836,086
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00198 SMP:00502 NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00198 SMP:00502 NCBI chrNW_004955555:334,253...357,417
Ensembl chrNW_004955555:333,642...358,799
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00198 SMP:00502 NCBI chrNW_004955411:8,427,875...8,626,564
Ensembl chrNW_004955411:8,437,548...8,628,363
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00198 SMP:00502 NCBI chrNW_004955435:4,975,664...5,005,126
Ensembl chrNW_004955435:4,973,830...5,017,816
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00198 SMP:00502 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00198 SMP:00502 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00198 SMP:00502 NCBI chrNW_004955403:8,752,339...8,796,693
Ensembl chrNW_004955403:8,752,309...8,792,927
JBrowse link
G Ldhal6b lactate dehydrogenase A like 6B ISO SMPDB SMP:00198 SMP:00502 NCBI chrNW_004955439:4,954,208...4,956,660 JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00198 SMP:00502 NCBI chrNW_004955416:29,684,557...29,703,495
Ensembl chrNW_004955416:29,685,385...29,698,557
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00198 SMP:00502 NCBI chrNW_004955411:8,363,142...8,397,839
Ensembl chrNW_004955411:8,363,142...8,399,216
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00198 SMP:00502 NCBI chrNW_004955404:10,317,640...10,719,148
Ensembl chrNW_004955404:10,317,640...10,661,496
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00198 SMP:00502 NCBI chrNW_004955501:2,474,330...2,563,107
Ensembl chrNW_004955501:2,474,330...2,563,837
JBrowse link
maple syrup urine disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00199 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00199 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00199 NCBI chrNW_004955412:35,067,637...35,083,889
Ensembl chrNW_004955412:35,067,702...35,083,889
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00199 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00199 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00199 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00199 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00199 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00199 NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00199 NCBI chrNW_004955403:827,538...875,856
Ensembl chrNW_004955403:828,066...872,218
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00199 NCBI chrNW_004955515:971,778...1,124,019
Ensembl chrNW_004955515:971,800...1,123,474
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00199 NCBI chrNW_004955413:19,975,395...20,087,656
Ensembl chrNW_004955413:19,981,328...20,087,638
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00199 NCBI chrNW_004955555:334,253...357,417
Ensembl chrNW_004955555:333,642...358,799
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00199 NCBI chrNW_004955411:8,427,875...8,626,564
Ensembl chrNW_004955411:8,437,548...8,628,363
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00199 NCBI chrNW_004955435:4,975,664...5,005,126
Ensembl chrNW_004955435:4,973,830...5,017,816
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00199 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00199 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00199 NCBI chrNW_004955410:29,180,411...29,294,273
Ensembl chrNW_004955410:29,180,184...29,294,315
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00199 NCBI chrNW_004955403:8,752,339...8,796,693
Ensembl chrNW_004955403:8,752,309...8,792,927
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00199 NCBI chrNW_004955452:3,720,103...3,734,730
Ensembl chrNW_004955452:3,720,103...3,735,192
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00199 NCBI chrNW_004955435:22,804,484...22,820,807
Ensembl chrNW_004955435:22,804,484...22,821,482
JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00199 NCBI chrNW_004955475:478,690...481,029
Ensembl chrNW_004955475:478,690...481,029
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00199 NCBI chrNW_004955416:7,327,557...7,341,533
Ensembl chrNW_004955416:7,327,557...7,346,027
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00199 NCBI chrNW_004955420:11,781,662...11,828,060
Ensembl chrNW_004955420:11,781,104...11,820,338
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00199 NCBI chrNW_004955575:445,627...503,891
Ensembl chrNW_004955575:445,619...505,040
JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00199 NCBI chrNW_004955416:29,684,557...29,703,495
Ensembl chrNW_004955416:29,685,385...29,698,557
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00199 NCBI chrNW_004955411:8,363,142...8,397,839
Ensembl chrNW_004955411:8,363,142...8,399,216
JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00199 NCBI chrNW_004955426:25,885,518...25,998,187
Ensembl chrNW_004955426:25,885,518...26,003,743
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00199 NCBI chrNW_004955404:10,317,640...10,719,148
Ensembl chrNW_004955404:10,317,640...10,661,496
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00199 NCBI chrNW_004955501:2,474,330...2,563,107
Ensembl chrNW_004955501:2,474,330...2,563,837
JBrowse link
medium chain acyl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00542 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00542 NCBI chrNW_004955457:5,266,032...5,300,632
Ensembl chrNW_004955457:5,266,033...5,300,056
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00542 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00542 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00542 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00542 NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00542 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00542 NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00542 NCBI chrNW_004955422:17,105,887...17,159,696
Ensembl chrNW_004955422:17,109,256...17,159,838
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00542 NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00542 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00542 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00542 NCBI chrNW_004955469:8,183,945...8,233,869
Ensembl chrNW_004955469:8,183,945...8,233,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00542 NCBI chrNW_004955469:8,233,980...8,272,149
Ensembl chrNW_004955469:8,233,980...8,274,450
JBrowse link
mercaptolactate-cysteine disulfiduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cars1 cysteinyl-tRNA synthetase 1 ISO SMPDB SMP:00499 NCBI chrNW_004955422:14,685,356...14,738,420
Ensembl chrNW_004955422:14,682,178...14,738,428
JBrowse link
G Cdo1 cysteine dioxygenase type 1 ISO SMPDB SMP:00499 NCBI chrNW_004955408:35,593,981...35,605,189
Ensembl chrNW_004955408:35,593,767...35,605,189
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00499 NCBI chrNW_004955423:21,542,587...21,567,935
Ensembl chrNW_004955423:21,542,179...21,567,786
JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO SMPDB SMP:00499 NCBI chrNW_004955467:13,151,663...13,169,005
Ensembl chrNW_004955467:13,151,957...13,168,696
JBrowse link
G Gclc glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00499 NCBI chrNW_004955411:2,593,523...2,617,553
Ensembl chrNW_004955411:2,593,541...2,616,539
JBrowse link
G Gclm glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00499 NCBI chrNW_004955423:782,468...805,384
Ensembl chrNW_004955423:782,468...805,384
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00499 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Mpst mercaptopyruvate sulfurtransferase ISO SMPDB SMP:00499 NCBI chrNW_004955413:23,538,648...23,543,132
Ensembl chrNW_004955413:23,538,648...23,547,120
JBrowse link
metachromatic leukodystrophy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00347 NCBI chrNW_004955495:3,247,170...3,271,417
Ensembl chrNW_004955495:3,247,083...3,271,720
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00347 NCBI chrNW_004955414:14,741,027...14,846,931
Ensembl chrNW_004955414:14,746,529...14,848,151
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00347 NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00347 NCBI chrNW_004955402:18,945,013...19,024,132
Ensembl chrNW_004955402:18,942,872...19,024,132
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00347 NCBI chrNW_004955413:30,658,472...30,693,948
Ensembl chrNW_004955413:30,660,593...30,679,674
JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00347 NCBI chrNW_004955438:21,300,118...21,313,330
Ensembl chrNW_004955438:21,300,118...21,313,330
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00347 NCBI chrNW_004955506:3,151,133...3,154,613
Ensembl chrNW_004955506:3,151,133...3,154,613
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00347 NCBI chrNW_004955455:4,771,378...4,794,085
Ensembl chrNW_004955455:4,771,346...4,784,142
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00347 NCBI chrNW_004955438:10,667,807...10,704,386
Ensembl chrNW_004955438:10,667,807...10,704,384
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00347 NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00347 NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00347 NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00347 NCBI chrNW_004955402:47,092,779...47,130,131
Ensembl chrNW_004955402:47,092,779...47,130,132
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00347 NCBI chrNW_004955414:16,783,996...16,798,368
Ensembl chrNW_004955414:16,788,171...16,798,535
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00347 NCBI chrNW_004955446:12,201,678...12,279,992
Ensembl chrNW_004955446:12,229,395...12,279,737
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00347 NCBI chrNW_004955425:5,507,905...5,819,357
Ensembl chrNW_004955425:5,784,751...5,822,488
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00347 NCBI chrNW_004955437:20,489,641...20,547,105
Ensembl chrNW_004955437:20,488,330...20,547,171
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00347 NCBI chrNW_004955453:11,244,077...11,361,990
Ensembl chrNW_004955453:11,242,647...11,359,569
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00347 NCBI chrNW_004955559:1,921,479...1,929,450
Ensembl chrNW_004955559:1,917,301...1,928,493
JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00347 NCBI chrNW_004955515:57,711...161,012
Ensembl chrNW_004955515:57,711...161,611
JBrowse link
G Sptlc2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00347 NCBI chrNW_004955438:1,385,431...1,491,534
Ensembl chrNW_004955438:1,385,431...1,491,578
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00347 NCBI chrNW_004955419:15,417,468...15,451,936
Ensembl chrNW_004955419:15,416,796...15,451,936
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00347 NCBI chrNW_004955428:24,800,854...24,864,904
Ensembl chrNW_004955428:24,800,854...24,865,378
JBrowse link
methylenetetrahydrofolate reductase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO SMPDB SMP:00340 NCBI chrNW_004955422:26,992,295...27,013,100
Ensembl chrNW_004955422:26,992,295...27,013,100
JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00340 NCBI chrNW_004955411:35,541,517...35,563,209
Ensembl chrNW_004955411:35,541,517...35,563,209
JBrowse link
G Bhmt betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00340 NCBI chrNW_004955425:21,992,219...22,009,389
Ensembl chrNW_004955425:21,991,665...22,009,855
JBrowse link
G Cbs cystathionine beta-synthase ISO SMPDB SMP:00340 NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790
JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00340 NCBI chrNW_004955430:3,797,924...3,831,326
Ensembl chrNW_004955430:3,799,970...3,805,474
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00340 NCBI chrNW_004955423:21,542,587...21,567,935
Ensembl chrNW_004955423:21,542,179...21,567,786
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00340 NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00340 NCBI chrNW_004955559:1,012,634...1,047,051
Ensembl chrNW_004955559:1,034,917...1,047,034
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00340 NCBI chrNW_004955458:5,215,853...5,233,037
Ensembl chrNW_004955458:5,215,853...5,233,037
JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00340 NCBI chrNW_004955424:1,953,623...1,961,164
Ensembl chrNW_004955424:1,953,623...1,961,164
JBrowse link
G Mat2b methionine adenosyltransferase 2 non-catalytic beta subunit ISO SMPDB SMP:00340 NCBI chrNW_004955408:16,910,414...16,924,663
Ensembl chrNW_004955408:16,910,414...16,927,502
JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00340 NCBI chrNW_004955429:5,867,091...5,887,460
Ensembl chrNW_004955429:5,867,091...5,887,587
JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00340 NCBI chrNW_004955458:12,004,928...12,159,625
Ensembl chrNW_004955458:12,004,806...12,159,954
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00340 NCBI chrNW_004955472:12,391,399...12,439,221
Ensembl chrNW_004955472:12,390,032...12,439,206
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00340 NCBI chrNW_004955450:10,399,472...10,415,813
Ensembl chrNW_004955450:10,399,470...10,415,872
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00340 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00340 NCBI chrNW_004955492:3,372,915...3,474,173
Ensembl chrNW_004955492:3,376,512...3,474,180
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00340 NCBI chrNW_004955478:10,972,791...11,001,535
Ensembl chrNW_004955478:10,978,139...11,001,202
JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00340 NCBI chrNW_004955486:2,631,579...2,634,779
Ensembl chrNW_004955486:2,631,586...2,634,527
JBrowse link
methylmalonate semialdehyde dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00384 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00384 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00384 NCBI chrNW_004955412:35,067,637...35,083,889
Ensembl chrNW_004955412:35,067,702...35,083,889
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00384 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00384 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00384 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00384 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00384 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00384 NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00384 NCBI chrNW_004955403:827,538...875,856
Ensembl chrNW_004955403:828,066...872,218
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00384 NCBI chrNW_004955515:971,778...1,124,019
Ensembl chrNW_004955515:971,800...1,123,474
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00384 NCBI chrNW_004955413:19,975,395...20,087,656
Ensembl chrNW_004955413:19,981,328...20,087,638
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00384 NCBI chrNW_004955555:334,253...357,417
Ensembl chrNW_004955555:333,642...358,799
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00384 NCBI chrNW_004955411:8,427,875...8,626,564
Ensembl chrNW_004955411:8,437,548...8,628,363
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00384 NCBI chrNW_004955435:4,975,664...5,005,126
Ensembl chrNW_004955435:4,973,830...5,017,816
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00384 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00384 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00384 NCBI chrNW_004955410:29,180,411...29,294,273
Ensembl chrNW_004955410:29,180,184...29,294,315
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00384 NCBI chrNW_004955403:8,752,339...8,796,693
Ensembl chrNW_004955403:8,752,309...8,792,927
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00384 NCBI chrNW_004955452:3,720,103...3,734,730
Ensembl chrNW_004955452:3,720,103...3,735,192
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00384 NCBI chrNW_004955435:22,804,484...22,820,807
Ensembl chrNW_004955435:22,804,484...22,821,482
JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00384 NCBI chrNW_004955475:478,690...481,029
Ensembl chrNW_004955475:478,690...481,029
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00384 NCBI chrNW_004955416:7,327,557...7,341,533
Ensembl chrNW_004955416:7,327,557...7,346,027
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00384 NCBI chrNW_004955420:11,781,662...11,828,060
Ensembl chrNW_004955420:11,781,104...11,820,338
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00384 NCBI chrNW_004955575:445,627...503,891
Ensembl chrNW_004955575:445,619...505,040
JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00384 NCBI chrNW_004955416:29,684,557...29,703,495
Ensembl chrNW_004955416:29,685,385...29,698,557
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00384 NCBI chrNW_004955411:8,363,142...8,397,839
Ensembl chrNW_004955411:8,363,142...8,399,216
JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00384 NCBI chrNW_004955426:25,885,518...25,998,187
Ensembl chrNW_004955426:25,885,518...26,003,743
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00384 NCBI chrNW_004955404:10,317,640...10,719,148
Ensembl chrNW_004955404:10,317,640...10,661,496
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00384 NCBI chrNW_004955501:2,474,330...2,563,107
Ensembl chrNW_004955501:2,474,330...2,563,837
JBrowse link
methylmalonic acidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00200 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00200 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00200 NCBI chrNW_004955412:35,067,637...35,083,889
Ensembl chrNW_004955412:35,067,702...35,083,889
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00200 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00200 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00200 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00200 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00200 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00200 NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00200 NCBI chrNW_004955403:827,538...875,856
Ensembl chrNW_004955403:828,066...872,218
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00200 NCBI chrNW_004955515:971,778...1,124,019
Ensembl chrNW_004955515:971,800...1,123,474
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00200 NCBI chrNW_004955413:19,975,395...20,087,656
Ensembl chrNW_004955413:19,981,328...20,087,638
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00200 NCBI chrNW_004955555:334,253...357,417
Ensembl chrNW_004955555:333,642...358,799
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00200 NCBI chrNW_004955411:8,427,875...8,626,564
Ensembl chrNW_004955411:8,437,548...8,628,363
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00200 NCBI chrNW_004955435:4,975,664...5,005,126
Ensembl chrNW_004955435:4,973,830...5,017,816
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00200 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00200 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00200 NCBI chrNW_004955410:29,180,411...29,294,273
Ensembl chrNW_004955410:29,180,184...29,294,315
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00200 NCBI chrNW_004955403:8,752,339...8,796,693
Ensembl chrNW_004955403:8,752,309...8,792,927
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00200 NCBI chrNW_004955452:3,720,103...3,734,730
Ensembl chrNW_004955452:3,720,103...3,735,192
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00200 NCBI chrNW_004955435:22,804,484...22,820,807
Ensembl chrNW_004955435:22,804,484...22,821,482
JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00200 NCBI chrNW_004955475:478,690...481,029
Ensembl chrNW_004955475:478,690...481,029
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00200 NCBI chrNW_004955416:7,327,557...7,341,533
Ensembl chrNW_004955416:7,327,557...7,346,027
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00200 NCBI chrNW_004955420:11,781,662...11,828,060
Ensembl chrNW_004955420:11,781,104...11,820,338
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00200 NCBI chrNW_004955575:445,627...503,891
Ensembl chrNW_004955575:445,619...505,040
JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00200 NCBI chrNW_004955416:29,684,557...29,703,495
Ensembl chrNW_004955416:29,685,385...29,698,557
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00200 NCBI chrNW_004955411:8,363,142...8,397,839
Ensembl chrNW_004955411:8,363,142...8,399,216
JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00200 NCBI chrNW_004955426:25,885,518...25,998,187
Ensembl chrNW_004955426:25,885,518...26,003,743
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00200 NCBI chrNW_004955404:10,317,640...10,719,148
Ensembl chrNW_004955404:10,317,640...10,661,496
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00200 NCBI chrNW_004955501:2,474,330...2,563,107
Ensembl chrNW_004955501:2,474,330...2,563,837
JBrowse link
methylmalonic aciduria, cobalamin-related pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00201 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO SMPDB SMP:00201 NCBI chrNW_004955451:679,033...909,892
Ensembl chrNW_004955451:600,254...909,892
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00201 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00201 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acss1 acyl-CoA synthetase short chain family member 1 ISO SMPDB SMP:00201 NCBI chrNW_004955415:31,117,542...31,154,654
Ensembl chrNW_004955415:31,117,303...31,154,654
JBrowse link
G Acss3 acyl-CoA synthetase short chain family member 3 ISO SMPDB SMP:00201 NCBI chrNW_004955405:19,677,191...19,836,086
Ensembl chrNW_004955405:19,677,537...19,836,086
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00201 NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00201 NCBI chrNW_004955555:334,253...357,417
Ensembl chrNW_004955555:333,642...358,799
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00201 NCBI chrNW_004955411:8,427,875...8,626,564
Ensembl chrNW_004955411:8,437,548...8,628,363
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00201 NCBI chrNW_004955435:4,975,664...5,005,126
Ensembl chrNW_004955435:4,973,830...5,017,816
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00201 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00201 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00201 NCBI chrNW_004955403:8,752,339...8,796,693
Ensembl chrNW_004955403:8,752,309...8,792,927
JBrowse link
G Ldhal6b lactate dehydrogenase A like 6B ISO SMPDB SMP:00201 NCBI chrNW_004955439:4,954,208...4,956,660 JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00201 NCBI chrNW_004955416:29,684,557...29,703,495
Ensembl chrNW_004955416:29,685,385...29,698,557
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00201 NCBI chrNW_004955411:8,363,142...8,397,839
Ensembl chrNW_004955411:8,363,142...8,399,216
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00201 NCBI chrNW_004955404:10,317,640...10,719,148
Ensembl chrNW_004955404:10,317,640...10,661,496
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00201 NCBI chrNW_004955501:2,474,330...2,563,107
Ensembl chrNW_004955501:2,474,330...2,563,837
JBrowse link
mevalonic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955439:21,123,886...21,142,562
Ensembl chrNW_004955439:21,122,923...21,142,480
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955464:4,533,928...4,557,893
Ensembl chrNW_004955464:4,533,928...4,558,133
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370
JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955403:53,068,011...53,081,499
Ensembl chrNW_004955403:53,067,637...53,081,499
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955545:1,757,090...1,765,028
Ensembl chrNW_004955545:1,757,418...1,765,028
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955492:4,582,998...4,593,194
Ensembl chrNW_004955492:4,583,633...4,589,144
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955446:18,978,261...18,996,794
Ensembl chrNW_004955446:18,978,102...18,998,951
JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955462:13,555,488...13,574,506
Ensembl chrNW_004955462:13,557,292...13,574,593
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
JBrowse link
G LOC102027002 lanosterol 14-alpha demethylase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955432:9,092,923...9,112,615
Ensembl chrNW_004955432:9,092,933...9,112,615
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955407:42,633,658...42,653,399
Ensembl chrNW_004955407:42,633,658...42,653,399
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955403:39,991,528...40,009,047
Ensembl chrNW_004955403:39,989,409...40,009,890
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955541:2,578,584...2,581,823
Ensembl chrNW_004955541:2,579,074...2,581,821
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955455:8,933,250...8,953,883
Ensembl chrNW_004955455:8,930,125...8,953,894
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955545:1,421,562...1,440,038
Ensembl chrNW_004955545:1,421,562...1,440,038
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955412:22,274,131...22,288,870
Ensembl chrNW_004955412:22,274,250...22,288,870
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955406:18,644,351...18,708,666
Ensembl chrNW_004955406:18,655,894...18,706,891
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955461:121,886...143,389
Ensembl chrNW_004955461:122,528...143,064
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955422:20,086,994...20,091,707
Ensembl chrNW_004955422:20,086,994...20,091,707
JBrowse link
molybdenum cofactor deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00203 NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00203 NCBI chrNW_004955462:9,196,984...9,278,850
Ensembl chrNW_004955462:9,207,314...9,278,621
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00203 NCBI chrNW_004955413:26,067,463...26,084,669
Ensembl chrNW_004955413:26,067,516...26,088,527
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00203 NCBI chrNW_004955406:7,684,979...7,715,179
Ensembl chrNW_004955406:7,683,596...7,715,616
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00203 NCBI chrNW_004955419:799,415...807,138
Ensembl chrNW_004955419:799,410...811,029
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00203 NCBI chrNW_004955435:17,962,487...17,991,625
Ensembl chrNW_004955435:17,962,514...17,991,556
JBrowse link
G Aprt adenine phosphoribosyltransferase ISO SMPDB SMP:00203 NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906
JBrowse link
G Atad1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00203 NCBI chrNW_004955425:5,118,107...5,180,578
Ensembl chrNW_004955425:5,117,964...5,180,578
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00203 NCBI chrNW_004955457:704,213...729,702
Ensembl chrNW_004955457:704,213...730,134
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00203 NCBI chrNW_004955424:11,739,904...11,773,884
Ensembl chrNW_004955424:11,738,859...11,773,902
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00203 NCBI chrNW_004955523:1,407,812...1,441,829
Ensembl chrNW_004955523:1,421,749...1,441,829
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00203 NCBI chrNW_004955513:5,352,843...5,357,671
Ensembl chrNW_004955513:5,353,229...5,356,019
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00203 NCBI chrNW_004955407:32,944,638...32,975,142
Ensembl chrNW_004955407:32,944,164...32,973,863
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00203 NCBI chrNW_004955434:983,388...1,050,413
Ensembl chrNW_004955434:983,388...1,049,948
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00203 NCBI chrNW_004955483:9,559,079...9,608,807
Ensembl chrNW_004955483:9,559,079...9,608,953
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00203 NCBI chrNW_004955448:6,931,891...6,984,662
Ensembl chrNW_004955448:6,932,926...6,984,662
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00203 NCBI chrNW_004955412:9,218,029...9,480,333
Ensembl chrNW_004955412:9,225,305...9,480,206
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00203 NCBI chrNW_004955471:11,303,478...11,349,512
Ensembl chrNW_004955471:11,303,242...11,351,190
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00203 NCBI chrNW_004955581:299,010...305,032
Ensembl chrNW_004955581:299,280...305,032
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00203 NCBI chrNW_004955473:462,940...510,006
Ensembl chrNW_004955473:461,957...496,196
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00203 NCBI chrNW_004955479:9,388,241...9,406,717
Ensembl chrNW_004955479:9,388,108...9,406,764
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00203 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00203 NCBI chrNW_004955420:24,301,079...24,306,370
Ensembl chrNW_004955420:24,301,081...24,306,493
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00203 NCBI chrNW_004955485:7,318,006...7,394,448
Ensembl chrNW_004955485:7,317,588...7,394,448
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00203 NCBI chrNW_004955472:1,760,046...1,774,539
Ensembl chrNW_004955472:1,759,900...1,774,539
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00203 NCBI chrNW_004955462:190,872...211,975
Ensembl chrNW_004955462:190,999...203,736
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00203 NCBI chrNW_004955447:14,558,468...14,571,081
Ensembl chrNW_004955447:14,558,468...14,574,052
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00203 NCBI chrNW_004955439:16,114,530...16,370,648
Ensembl chrNW_004955439:16,114,530...16,365,146
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00203 NCBI chrNW_004955446:7,914,326...9,252,527
Ensembl chrNW_004955446:8,211,877...9,252,653
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00203 NCBI chrNW_004955467:8,640,044...8,660,950
Ensembl chrNW_004955467:8,640,044...8,660,979
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00203 NCBI chrNW_004955550:1,290,816...1,299,553
Ensembl chrNW_004955550:1,290,244...1,298,068
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00203 NCBI chrNW_004955447:14,552,846...14,607,416
Ensembl chrNW_004955447:14,574,407...14,607,416
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00203 NCBI chrNW_004955410:20,987,289...20,988,852 JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00203 NCBI chrNW_004955414:19,850,523...19,904,879
Ensembl chrNW_004955414:19,850,530...19,905,266
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00203 NCBI chrNW_004955487:5,477,097...5,481,422
Ensembl chrNW_004955487:5,476,954...5,483,049
JBrowse link
nonketotic hyperglycinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955542:710,506...720,564
Ensembl chrNW_004955542:710,005...717,741
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955532:3,810,469...3,823,456
Ensembl chrNW_004955532:3,810,464...3,823,456
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955532:1,351,743...1,358,220
Ensembl chrNW_004955532:1,351,743...1,358,220
JBrowse link
G Bhmt betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955425:21,992,219...22,009,389
Ensembl chrNW_004955425:21,991,665...22,009,855
JBrowse link
G Cbs cystathionine beta-synthase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955423:21,542,587...21,567,935
Ensembl chrNW_004955423:21,542,179...21,567,786
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955425:22,045,977...22,103,381
Ensembl chrNW_004955425:22,045,993...22,102,852
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955495:6,536,541...6,539,424
Ensembl chrNW_004955495:6,536,544...6,539,424
JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955410:31,778,654...31,819,287
Ensembl chrNW_004955410:31,779,543...31,819,113
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603
JBrowse link
G Gcat glycine C-acetyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955413:24,184,997...24,192,178
Ensembl chrNW_004955413:24,184,997...24,192,229
JBrowse link
G Gldc glycine decarboxylase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955434:10,431,434...10,533,118
Ensembl chrNW_004955434:10,431,983...10,533,002
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955532:3,933,964...3,939,858
Ensembl chrNW_004955532:3,936,160...3,942,868
JBrowse link
G Gnmt glycine N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955437:8,944,288...8,946,642
Ensembl chrNW_004955437:8,944,047...8,946,642
JBrowse link
G Maoa amine oxidase [flavin-containing] A ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955435:22,757,473...22,803,123
Ensembl chrNW_004955435:22,757,454...22,803,123
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955512:1,132,452...1,155,405
Ensembl chrNW_004955512:1,132,390...1,155,412
JBrowse link
G Psph phosphoserine phosphatase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955456:8,198,739...8,212,111
Ensembl chrNW_004955456:8,198,739...8,212,025
JBrowse link
G Sardh sarcosine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955513:2,933,918...2,975,645
Ensembl chrNW_004955513:2,933,918...2,976,931
JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955435:12,642,485...12,659,833
Ensembl chrNW_004955435:12,641,776...12,660,682
JBrowse link
G Sds serine dehydratase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955482:9,646,523...9,653,471
Ensembl chrNW_004955482:9,643,919...9,653,375
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955478:10,972,791...11,001,535
Ensembl chrNW_004955478:10,978,139...11,001,202
JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955458:4,957,614...4,962,691
Ensembl chrNW_004955458:4,957,602...4,962,691
JBrowse link
G Srr serine racemase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955481:919,692...940,066
Ensembl chrNW_004955481:871,654...937,770
JBrowse link
ocular nonnephropathic cystinosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cars1 cysteinyl-tRNA synthetase 1 ISO SMPDB SMP:00722 NCBI chrNW_004955422:14,685,356...14,738,420
Ensembl chrNW_004955422:14,682,178...14,738,428
JBrowse link
G Cdo1 cysteine dioxygenase type 1 ISO SMPDB SMP:00722 NCBI chrNW_004955408:35,593,981...35,605,189
Ensembl chrNW_004955408:35,593,767...35,605,189
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00722 NCBI chrNW_004955423:21,542,587...21,567,935
Ensembl chrNW_004955423:21,542,179...21,567,786
JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO SMPDB SMP:00722 NCBI chrNW_004955467:13,151,663...13,169,005
Ensembl chrNW_004955467:13,151,957...13,168,696
JBrowse link
G Gclc glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00722 NCBI chrNW_004955411:2,593,523...2,617,553
Ensembl chrNW_004955411:2,593,541...2,616,539
JBrowse link
G Gclm glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00722 NCBI chrNW_004955423:782,468...805,384
Ensembl chrNW_004955423:782,468...805,384
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00722 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Mpst mercaptopyruvate sulfurtransferase ISO SMPDB SMP:00722 NCBI chrNW_004955413:23,538,648...23,543,132
Ensembl chrNW_004955413:23,538,648...23,547,120
JBrowse link
ornithine carbamoyltransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00205 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00205 NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00205 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00205 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00205 NCBI chrNW_004955458:4,055,088...4,065,307
Ensembl chrNW_004955458:4,050,674...4,065,322
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00205 NCBI chrNW_004955510:5,987,811...6,021,001
Ensembl chrNW_004955510:5,988,965...6,020,995
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00205 NCBI chrNW_004955433:16,121,795...16,145,129
Ensembl chrNW_004955433:16,122,824...16,145,113
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00205 NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00205 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00205 NCBI chrNW_004955424:19,474,082...19,499,592
Ensembl chrNW_004955424:19,474,082...19,499,592
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00205 NCBI chrNW_004955574:798,004...806,631 JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00205 NCBI chrNW_004955449:3,093,603...3,182,513
Ensembl chrNW_004955449:3,093,603...3,186,737
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00205 NCBI chrNW_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197
JBrowse link
ornithine translocase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00506 NCBI chrNW_004955527:338,593...369,528
Ensembl chrNW_004955527:338,593...372,872
JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00506 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00506 NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00506 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00506 NCBI chrNW_004955538:2,379,868...2,380,771 JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00506 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Dao D-amino acid oxidase ISO SMPDB SMP:00506 NCBI chrNW_004955455:10,095,597...10,127,244
Ensembl chrNW_004955455:10,095,300...10,127,666
JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00506 NCBI chrNW_004955520:3,550,558...3,606,015
Ensembl chrNW_004955520:3,550,558...3,606,697
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00506 NCBI chrNW_004955495:6,536,541...6,539,424
Ensembl chrNW_004955495:6,536,544...6,539,424
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00506 NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00506 NCBI chrNW_004955510:5,987,811...6,021,001
Ensembl chrNW_004955510:5,988,965...6,020,995
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00506 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00506 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00506 NCBI chrNW_004955477:2,430,146...2,450,135
Ensembl chrNW_004955477:2,429,776...2,450,624
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00506 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00506 NCBI chrNW_004955414:17,344,512...17,376,564
Ensembl chrNW_004955414:17,344,509...17,376,564
JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00506 NCBI chrNW_004955489:138,600...143,112
Ensembl chrNW_004955489:138,600...143,112
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00506 NCBI chrNW_004955411:14,470,479...14,527,895
Ensembl chrNW_004955411:14,470,479...14,527,895
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00506 NCBI chrNW_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197
JBrowse link
orotic aciduria 1 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak3 adenylate kinase 3 ISO SMPDB SMP:00219 NCBI chrNW_004955434:8,998,357...9,010,468
Ensembl chrNW_004955434:9,000,158...9,011,250
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00219 NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865
JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00219 NCBI chrNW_004955506:3,707,028...3,722,339
Ensembl chrNW_004955506:3,713,277...3,722,390
JBrowse link
G Cda cytidine deaminase ISO SMPDB SMP:00219 NCBI chrNW_004955452:1,131,968...1,156,777
Ensembl chrNW_004955452:1,132,049...1,156,565
JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00219 NCBI chrNW_004955487:2,010,126...2,024,804
Ensembl chrNW_004955487:2,010,228...2,029,175
JBrowse link
G Ctps1 CTP synthase 1 ISO SMPDB SMP:00219 NCBI chrNW_004955537:773,664...811,084
Ensembl chrNW_004955537:774,002...813,254
JBrowse link
G Dctd dCMP deaminase ISO SMPDB SMP:00219 NCBI chrNW_004955403:25,825,366...25,849,511
Ensembl chrNW_004955403:25,825,672...25,850,862
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00219 NCBI chrNW_004955484:4,699,743...4,713,466
Ensembl chrNW_004955484:4,699,722...4,713,466
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00219 NCBI chrNW_004955435:2,007,185...2,800,907
Ensembl chrNW_004955435:2,007,185...2,766,138
JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00219 NCBI chrNW_004955417:28,183,771...28,244,309
Ensembl chrNW_004955417:28,185,407...28,244,307
JBrowse link
G Dut deoxyuridine triphosphatase ISO SMPDB SMP:00219 NCBI chrNW_004955409:5,574,810...5,584,135
Ensembl chrNW_004955409:5,574,694...5,584,134
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00219 NCBI chrNW_004955434:983,388...1,050,413
Ensembl chrNW_004955434:983,388...1,049,948
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00219 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00219 NCBI chrNW_004955420:24,301,079...24,306,370
Ensembl chrNW_004955420:24,301,081...24,306,493
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00219 NCBI chrNW_004955485:7,318,006...7,394,448
Ensembl chrNW_004955485:7,317,588...7,394,448
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00219 NCBI chrNW_004955487:5,477,097...5,481,422
Ensembl chrNW_004955487:5,476,954...5,483,049
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00219 NCBI chrNW_004955417:26,949,686...26,976,976
Ensembl chrNW_004955417:26,949,686...26,976,726
JBrowse link
G Tk1 thymidine kinase 1 ISO SMPDB SMP:00219 NCBI chrNW_004955506:4,379,830...4,390,729
Ensembl chrNW_004955506:4,379,830...4,394,713
JBrowse link
G Tymp thymidine phosphorylase ISO SMPDB SMP:00219 NCBI chrNW_004955413:33,505,424...33,509,095
Ensembl chrNW_004955413:33,505,446...33,508,748
JBrowse link
G Tyms thymidylate synthetase ISO SMPDB SMP:00219 NCBI chrNW_004955402:9,295,862...9,304,952
Ensembl chrNW_004955402:9,296,321...9,306,631
JBrowse link
G Uckl1 uridine-cytidine kinase 1 like 1 ISO SMPDB SMP:00219 NCBI chrNW_004955528:297,952...311,306
Ensembl chrNW_004955528:297,952...311,306
JBrowse link
G Umps uridine monophosphate synthetase ISO SMPDB SMP:00219 NCBI chrNW_004955427:23,825,529...23,841,427
Ensembl chrNW_004955427:23,825,523...23,841,152
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00219 NCBI chrNW_004955455:7,961,296...7,992,235
Ensembl chrNW_004955455:7,961,264...7,995,946
JBrowse link
G Upp2 uridine phosphorylase 2 ISO SMPDB SMP:00219 NCBI chrNW_004955449:15,355,592...15,405,997
Ensembl chrNW_004955449:15,365,106...15,405,235
JBrowse link
phenylketonuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00206 NCBI chrNW_004955533:904,294...921,730
Ensembl chrNW_004955533:904,295...921,730
JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00206 NCBI chrNW_004955415:31,972,888...31,981,424
Ensembl chrNW_004955415:31,968,980...31,981,424
JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00206 NCBI chrNW_004955453:11,176,481...11,237,243
Ensembl chrNW_004955453:11,176,432...11,240,780
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00206 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00206 NCBI chrNW_004955438:1,218,990...1,231,407
Ensembl chrNW_004955438:1,219,018...1,231,287
JBrowse link
G Hgd homogentisate 1,2-dioxygenase ISO SMPDB SMP:00206 NCBI chrNW_004955427:20,141,522...20,188,700
Ensembl chrNW_004955427:20,137,861...20,188,700
JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00206 NCBI chrNW_004955482:6,586,975...6,595,034
Ensembl chrNW_004955482:6,586,975...6,595,034
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00206 NCBI chrNW_004955559:1,012,634...1,047,051
Ensembl chrNW_004955559:1,034,917...1,047,034
JBrowse link
G Pah phenylalanine hydroxylase ISO SMPDB SMP:00206 NCBI chrNW_004955405:37,848,486...37,909,163
Ensembl chrNW_004955405:37,846,354...37,909,457
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00206 NCBI chrNW_004955484:4,278,083...4,287,535
Ensembl chrNW_004955484:4,276,953...4,287,627
JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00206 NCBI chrNW_004955452:11,046,047...11,078,016
Ensembl chrNW_004955452:11,046,047...11,078,016
JBrowse link
phosphoenolpyruvate carboxykinase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00560 NCBI chrNW_004955493:6,904,931...6,910,682
Ensembl chrNW_004955493:6,904,091...6,908,959
JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00560 NCBI chrNW_004955494:7,867,295...7,889,440
Ensembl chrNW_004955494:7,866,693...7,883,641
JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00560 NCBI chrNW_004955486:4,275,371...4,287,152
Ensembl chrNW_004955486:4,274,238...4,289,809
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00560 NCBI chrNW_004955422:21,537,337...21,569,174
Ensembl chrNW_004955422:21,536,667...21,569,433
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00560 NCBI chrNW_004955451:16,672,512...16,680,001
Ensembl chrNW_004955451:16,672,979...16,680,001
JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00560 NCBI chrNW_004955441:6,330,520...6,399,522
Ensembl chrNW_004955441:6,330,410...6,403,219
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00560 NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00560 NCBI chrNW_004955468:3,980,999...4,007,553
Ensembl chrNW_004955468:3,980,999...4,008,652
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00560 NCBI chrNW_004955424:10,897,528...10,966,025
Ensembl chrNW_004955424:10,897,485...10,966,025
JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00560 NCBI chrNW_004955456:14,819,406...14,833,547
Ensembl chrNW_004955456:14,819,406...14,837,142
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00560 NCBI chrNW_004955439:15,515,966...15,531,618
Ensembl chrNW_004955439:15,516,090...15,531,116
JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00560 NCBI chrNW_004955425:3,384,023...3,433,808
Ensembl chrNW_004955425:3,384,200...3,432,431
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00560 NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00560 NCBI chrNW_004955445:1,909,012...1,914,032
Ensembl chrNW_004955445:1,908,946...1,915,002
JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00560 NCBI chrNW_004955507:3,562,513...3,571,400
Ensembl chrNW_004955507:3,562,513...3,571,400
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00560 NCBI chrNW_004955456:7,909,891...7,912,116
Ensembl chrNW_004955456:7,909,891...7,912,116
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00560 NCBI chrNW_004955423:26,408,775...26,437,527
Ensembl chrNW_004955423:26,408,595...26,437,527
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00560 NCBI chrNW_004955467:10,349,378...10,352,649
Ensembl chrNW_004955467:10,349,378...10,355,368
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00560 NCBI chrNW_004955420:1,101,769...1,129,672
Ensembl chrNW_004955420:1,101,769...1,129,715
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00560 NCBI chrNW_004955412:20,133,652...20,140,134
Ensembl chrNW_004955412:20,133,652...20,139,542
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00560 NCBI chrNW_004955413:4,467,615...4,471,594
Ensembl chrNW_004955413:4,467,566...4,471,177
JBrowse link
primary hyperoxaluria type 1 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO SMPDB SMP:00352 NCBI chrNW_004955484:3,090,678...3,115,224
Ensembl chrNW_004955484:3,089,235...3,115,230
JBrowse link
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00352 NCBI chrNW_004955437:9,915,371...9,924,886
Ensembl chrNW_004955437:9,913,867...9,924,886
JBrowse link
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO SMPDB SMP:00352 NCBI chrNW_004955542:710,506...720,564
Ensembl chrNW_004955542:710,005...717,741
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00352 NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00352 NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436
JBrowse link
primary hyperoxaluria type 2 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaca acetyl-CoA carboxylase alpha ISO SMPDB SMP:00558 NCBI chrNW_004955451:679,033...909,892
Ensembl chrNW_004955451:600,254...909,892
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00558 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00558 NCBI chrNW_004955418:28,829,316...28,872,629
Ensembl chrNW_004955418:28,829,144...28,875,486
JBrowse link
G Acss2 acyl-CoA synthetase short chain family member 2 ISO SMPDB SMP:00558 NCBI chrNW_004955422:26,450,899...26,500,336
Ensembl chrNW_004955422:26,451,598...26,500,546
JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00558 NCBI chrNW_004955523:499,508...507,809
Ensembl chrNW_004955523:499,508...508,273
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00558 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00558 NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00558 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Glo1 glyoxalase I ISO SMPDB SMP:00558 NCBI chrNW_004955437:4,728,709...4,749,834
Ensembl chrNW_004955437:4,728,709...4,749,834
JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00558 NCBI chrNW_004955419:29,032,591...29,044,046
Ensembl chrNW_004955419:29,032,600...29,044,257
JBrowse link
G Hagh hydroxyacylglutathione hydrolase ISO SMPDB SMP:00558 NCBI chrNW_004955442:15,451,910...15,465,211
Ensembl chrNW_004955442:15,451,910...15,465,211
JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00558 NCBI chrNW_004955484:2,461,545...2,466,702
Ensembl chrNW_004955484:2,460,762...2,466,702
JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00558 NCBI chrNW_004955424:20,707,765...20,723,493
Ensembl chrNW_004955424:20,706,058...20,723,493
JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00558 NCBI chrNW_004955411:10,938,580...11,084,171
Ensembl chrNW_004955411:10,938,944...11,065,085
JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00558 NCBI chrNW_004955402:35,816,474...35,894,051
Ensembl chrNW_004955402:35,835,578...35,894,051
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00558 NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00558 NCBI chrNW_004955445:1,909,012...1,914,032
Ensembl chrNW_004955445:1,908,946...1,915,002
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00558 NCBI chrNW_004955586:98,492...114,927
Ensembl chrNW_004955586:97,172...114,928
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00558 NCBI chrNW_004955430:1,707,615...1,713,541
Ensembl chrNW_004955430:1,707,615...1,713,541
JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00558 NCBI chrNW_004955545:1,742,432...1,749,632
Ensembl chrNW_004955545:1,739,152...1,749,632
JBrowse link
prolidase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00207 NCBI chrNW_004955527:338,593...369,528
Ensembl chrNW_004955527:338,593...372,872
JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00207 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00207 NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00207 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00207 NCBI chrNW_004955538:2,379,868...2,380,771 JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00207 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Dao D-amino acid oxidase ISO SMPDB SMP:00207 NCBI chrNW_004955455:10,095,597...10,127,244
Ensembl chrNW_004955455:10,095,300...10,127,666
JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00207 NCBI chrNW_004955520:3,550,558...3,606,015
Ensembl chrNW_004955520:3,550,558...3,606,697
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00207 NCBI chrNW_004955495:6,536,541...6,539,424
Ensembl chrNW_004955495:6,536,544...6,539,424
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00207 NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00207 NCBI chrNW_004955510:5,987,811...6,021,001
Ensembl chrNW_004955510:5,988,965...6,020,995
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00207 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00207 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00207 NCBI chrNW_004955477:2,430,146...2,450,135
Ensembl chrNW_004955477:2,429,776...2,450,624
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00207 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00207 NCBI chrNW_004955414:17,344,512...17,376,564
Ensembl chrNW_004955414:17,344,509...17,376,564
JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00207 NCBI chrNW_004955489:138,600...143,112
Ensembl chrNW_004955489:138,600...143,112
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00207 NCBI chrNW_004955411:14,470,479...14,527,895
Ensembl chrNW_004955411:14,470,479...14,527,895
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00207 NCBI chrNW_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197
JBrowse link
propionic acidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00236 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00236 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00236 NCBI chrNW_004955412:35,067,637...35,083,889
Ensembl chrNW_004955412:35,067,702...35,083,889
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00236 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00236 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00236 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00236 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00236 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00236 NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00236 NCBI chrNW_004955403:827,538...875,856
Ensembl chrNW_004955403:828,066...872,218
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00236 NCBI chrNW_004955515:971,778...1,124,019
Ensembl chrNW_004955515:971,800...1,123,474
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00236 NCBI chrNW_004955413:19,975,395...20,087,656
Ensembl chrNW_004955413:19,981,328...20,087,638
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00236 NCBI chrNW_004955555:334,253...357,417
Ensembl chrNW_004955555:333,642...358,799
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00236 NCBI chrNW_004955411:8,427,875...8,626,564
Ensembl chrNW_004955411:8,437,548...8,628,363
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00236 NCBI chrNW_004955435:4,975,664...5,005,126
Ensembl chrNW_004955435:4,973,830...5,017,816
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00236 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00236 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00236 NCBI chrNW_004955410:29,180,411...29,294,273
Ensembl chrNW_004955410:29,180,184...29,294,315
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00236 NCBI chrNW_004955403:8,752,339...8,796,693
Ensembl chrNW_004955403:8,752,309...8,792,927
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00236 NCBI chrNW_004955452:3,720,103...3,734,730
Ensembl chrNW_004955452:3,720,103...3,735,192
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00236 NCBI chrNW_004955435:22,804,484...22,820,807
Ensembl chrNW_004955435:22,804,484...22,821,482
JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00236 NCBI chrNW_004955475:478,690...481,029
Ensembl chrNW_004955475:478,690...481,029
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00236 NCBI chrNW_004955416:7,327,557...7,341,533
Ensembl chrNW_004955416:7,327,557...7,346,027
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00236 NCBI chrNW_004955420:11,781,662...11,828,060
Ensembl chrNW_004955420:11,781,104...11,820,338
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00236 NCBI chrNW_004955575:445,627...503,891
Ensembl chrNW_004955575:445,619...505,040
JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00236 NCBI chrNW_004955416:29,684,557...29,703,495
Ensembl chrNW_004955416:29,685,385...29,698,557
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00236 NCBI chrNW_004955411:8,363,142...8,397,839
Ensembl chrNW_004955411:8,363,142...8,399,216
JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00236 NCBI chrNW_004955426:25,885,518...25,998,187
Ensembl chrNW_004955426:25,885,518...26,003,743
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00236 NCBI chrNW_004955404:10,317,640...10,719,148
Ensembl chrNW_004955404:10,317,640...10,661,496
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00236 NCBI chrNW_004955501:2,474,330...2,563,107
Ensembl chrNW_004955501:2,474,330...2,563,837
JBrowse link
purine nucleoside phosphorylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00210 NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00210 NCBI chrNW_004955462:9,196,984...9,278,850
Ensembl chrNW_004955462:9,207,314...9,278,621
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00210 NCBI chrNW_004955413:26,067,463...26,084,669
Ensembl chrNW_004955413:26,067,516...26,088,527
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00210 NCBI chrNW_004955406:7,684,979...7,715,179
Ensembl chrNW_004955406:7,683,596...7,715,616
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00210 NCBI chrNW_004955419:799,415...807,138
Ensembl chrNW_004955419:799,410...811,029
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00210 NCBI chrNW_004955435:17,962,487...17,991,625
Ensembl chrNW_004955435:17,962,514...17,991,556
JBrowse link
G Aprt adenine phosphoribosyltransferase ISO SMPDB SMP:00210 NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906
JBrowse link
G Atad1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00210 NCBI chrNW_004955425:5,118,107...5,180,578
Ensembl chrNW_004955425:5,117,964...5,180,578
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00210 NCBI chrNW_004955457:704,213...729,702
Ensembl chrNW_004955457:704,213...730,134
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00210 NCBI chrNW_004955424:11,739,904...11,773,884
Ensembl chrNW_004955424:11,738,859...11,773,902
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00210 NCBI chrNW_004955523:1,407,812...1,441,829
Ensembl chrNW_004955523:1,421,749...1,441,829
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00210 NCBI chrNW_004955513:5,352,843...5,357,671
Ensembl chrNW_004955513:5,353,229...5,356,019
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00210 NCBI chrNW_004955407:32,944,638...32,975,142
Ensembl chrNW_004955407:32,944,164...32,973,863
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00210 NCBI chrNW_004955434:983,388...1,050,413
Ensembl chrNW_004955434:983,388...1,049,948
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00210 NCBI chrNW_004955483:9,559,079...9,608,807
Ensembl chrNW_004955483:9,559,079...9,608,953
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00210 NCBI chrNW_004955448:6,931,891...6,984,662
Ensembl chrNW_004955448:6,932,926...6,984,662
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00210 NCBI chrNW_004955412:9,218,029...9,480,333
Ensembl chrNW_004955412:9,225,305...9,480,206
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00210 NCBI chrNW_004955471:11,303,478...11,349,512
Ensembl chrNW_004955471:11,303,242...11,351,190
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00210 NCBI chrNW_004955581:299,010...305,032
Ensembl chrNW_004955581:299,280...305,032
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00210 NCBI chrNW_004955473:462,940...510,006
Ensembl chrNW_004955473:461,957...496,196
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00210 NCBI chrNW_004955479:9,388,241...9,406,717
Ensembl chrNW_004955479:9,388,108...9,406,764
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00210 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00210 NCBI chrNW_004955420:24,301,079...24,306,370
Ensembl chrNW_004955420:24,301,081...24,306,493
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00210 NCBI chrNW_004955485:7,318,006...7,394,448
Ensembl chrNW_004955485:7,317,588...7,394,448
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00210 NCBI chrNW_004955472:1,760,046...1,774,539
Ensembl chrNW_004955472:1,759,900...1,774,539
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00210 NCBI chrNW_004955462:190,872...211,975
Ensembl chrNW_004955462:190,999...203,736
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00210 NCBI chrNW_004955447:14,558,468...14,571,081
Ensembl chrNW_004955447:14,558,468...14,574,052
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00210 NCBI chrNW_004955439:16,114,530...16,370,648
Ensembl chrNW_004955439:16,114,530...16,365,146
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00210 NCBI chrNW_004955446:7,914,326...9,252,527
Ensembl chrNW_004955446:8,211,877...9,252,653
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00210 NCBI chrNW_004955467:8,640,044...8,660,950
Ensembl chrNW_004955467:8,640,044...8,660,979
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00210 NCBI chrNW_004955550:1,290,816...1,299,553
Ensembl chrNW_004955550:1,290,244...1,298,068
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00210 NCBI chrNW_004955447:14,552,846...14,607,416
Ensembl chrNW_004955447:14,574,407...14,607,416
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00210 NCBI chrNW_004955410:20,987,289...20,988,852 JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00210 NCBI chrNW_004955414:19,850,523...19,904,879
Ensembl chrNW_004955414:19,850,530...19,905,266
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00210 NCBI chrNW_004955487:5,477,097...5,481,422
Ensembl chrNW_004955487:5,476,954...5,483,049
JBrowse link
pyruvate carboxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO SMPDB SMP:00350 NCBI chrNW_004955484:3,090,678...3,115,224
Ensembl chrNW_004955484:3,089,235...3,115,230
JBrowse link
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00350 NCBI chrNW_004955437:9,915,371...9,924,886
Ensembl chrNW_004955437:9,913,867...9,924,886
JBrowse link
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO SMPDB SMP:00350 NCBI chrNW_004955542:710,506...720,564
Ensembl chrNW_004955542:710,005...717,741
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00350 NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00350 NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436
JBrowse link
pyruvate decarboxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaca acetyl-CoA carboxylase alpha ISO SMPDB SMP:00212 NCBI chrNW_004955451:679,033...909,892
Ensembl chrNW_004955451:600,254...909,892
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00212 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00212 NCBI chrNW_004955418:28,829,316...28,872,629
Ensembl chrNW_004955418:28,829,144...28,875,486
JBrowse link
G Acss2 acyl-CoA synthetase short chain family member 2 ISO SMPDB SMP:00212 NCBI chrNW_004955422:26,450,899...26,500,336
Ensembl chrNW_004955422:26,451,598...26,500,546
JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00212 NCBI chrNW_004955523:499,508...507,809
Ensembl chrNW_004955523:499,508...508,273
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00212 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00212 NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00212 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Glo1 glyoxalase I ISO SMPDB SMP:00212 NCBI chrNW_004955437:4,728,709...4,749,834
Ensembl chrNW_004955437:4,728,709...4,749,834
JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00212 NCBI chrNW_004955419:29,032,591...29,044,046
Ensembl chrNW_004955419:29,032,600...29,044,257
JBrowse link
G Hagh hydroxyacylglutathione hydrolase ISO SMPDB SMP:00212 NCBI chrNW_004955442:15,451,910...15,465,211
Ensembl chrNW_004955442:15,451,910...15,465,211
JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00212 NCBI chrNW_004955484:2,461,545...2,466,702
Ensembl chrNW_004955484:2,460,762...2,466,702
JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00212 NCBI chrNW_004955424:20,707,765...20,723,493
Ensembl chrNW_004955424:20,706,058...20,723,493
JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00212 NCBI chrNW_004955411:10,938,580...11,084,171
Ensembl chrNW_004955411:10,938,944...11,065,085
JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00212 NCBI chrNW_004955402:35,816,474...35,894,051
Ensembl chrNW_004955402:35,835,578...35,894,051
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00212 NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00212 NCBI chrNW_004955445:1,909,012...1,914,032
Ensembl chrNW_004955445:1,908,946...1,915,002
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00212 NCBI chrNW_004955586:98,492...114,927
Ensembl chrNW_004955586:97,172...114,928
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00212 NCBI chrNW_004955430:1,707,615...1,713,541
Ensembl chrNW_004955430:1,707,615...1,713,541
JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00212 NCBI chrNW_004955545:1,742,432...1,749,632
Ensembl chrNW_004955545:1,739,152...1,749,632
JBrowse link
pyruvate dehydrogenase E1 deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaca acetyl-CoA carboxylase alpha ISO SMPDB SMP:00334 NCBI chrNW_004955451:679,033...909,892
Ensembl chrNW_004955451:600,254...909,892
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00334 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00334 NCBI chrNW_004955418:28,829,316...28,872,629
Ensembl chrNW_004955418:28,829,144...28,875,486
JBrowse link
G Acss2 acyl-CoA synthetase short chain family member 2 ISO SMPDB SMP:00334 NCBI chrNW_004955422:26,450,899...26,500,336
Ensembl chrNW_004955422:26,451,598...26,500,546
JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00334 NCBI chrNW_004955523:499,508...507,809
Ensembl chrNW_004955523:499,508...508,273
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00334 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00334 NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00334 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Glo1 glyoxalase I ISO SMPDB SMP:00334 NCBI chrNW_004955437:4,728,709...4,749,834
Ensembl chrNW_004955437:4,728,709...4,749,834
JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00334 NCBI chrNW_004955419:29,032,591...29,044,046
Ensembl chrNW_004955419:29,032,600...29,044,257
JBrowse link
G Hagh hydroxyacylglutathione hydrolase ISO SMPDB SMP:00334 NCBI chrNW_004955442:15,451,910...15,465,211
Ensembl chrNW_004955442:15,451,910...15,465,211
JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00334 NCBI chrNW_004955484:2,461,545...2,466,702
Ensembl chrNW_004955484:2,460,762...2,466,702
JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00334 NCBI chrNW_004955424:20,707,765...20,723,493
Ensembl chrNW_004955424:20,706,058...20,723,493
JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00334 NCBI chrNW_004955411:10,938,580...11,084,171
Ensembl chrNW_004955411:10,938,944...11,065,085
JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00334 NCBI chrNW_004955402:35,816,474...35,894,051
Ensembl chrNW_004955402:35,835,578...35,894,051
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00334 NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00334 NCBI chrNW_004955445:1,909,012...1,914,032
Ensembl chrNW_004955445:1,908,946...1,915,002
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00334 NCBI chrNW_004955586:98,492...114,927
Ensembl chrNW_004955586:97,172...114,928
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00334 NCBI chrNW_004955430:1,707,615...1,713,541
Ensembl chrNW_004955430:1,707,615...1,713,541
JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00334 NCBI chrNW_004955545:1,742,432...1,749,632
Ensembl chrNW_004955545:1,739,152...1,749,632
JBrowse link
pyruvate dehydrogenase E2 deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO SMPDB SMP:00551 NCBI chrNW_004955413:27,027,341...27,065,227
Ensembl chrNW_004955413:27,027,341...27,065,227
JBrowse link
G Cs citrate synthase ISO SMPDB SMP:00551 NCBI chrNW_004955458:3,881,798...3,913,044
Ensembl chrNW_004955458:3,881,798...3,893,401
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00551 NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00551 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00551 NCBI chrNW_004955523:660,413...680,878
Ensembl chrNW_004955523:661,738...680,802
JBrowse link
G Fh fumarate hydratase ISO SMPDB SMP:00551 NCBI chrNW_004955406:10,535,801...10,558,649
Ensembl chrNW_004955406:10,535,323...10,561,627
JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO SMPDB SMP:00551 NCBI chrNW_004955450:685,905...703,593
Ensembl chrNW_004955450:685,905...703,586
JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO SMPDB SMP:00551 NCBI chrNW_004955415:13,642,804...13,649,023
Ensembl chrNW_004955415:13,643,168...13,649,463
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO SMPDB SMP:00551 NCBI chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608
JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00551 NCBI chrNW_004955456:14,819,406...14,833,547
Ensembl chrNW_004955456:14,819,406...14,837,142
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00551 NCBI chrNW_004955439:15,515,966...15,531,618
Ensembl chrNW_004955439:15,516,090...15,531,116
JBrowse link
G Ogdh oxoglutarate dehydrogenase ISO SMPDB SMP:00551 NCBI chrNW_004955456:7,416,343...7,484,889
Ensembl chrNW_004955456:7,415,589...7,485,515
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00551 NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00551 NCBI chrNW_004955586:98,492...114,927
Ensembl chrNW_004955586:97,172...114,928
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00551 NCBI chrNW_004955430:1,707,615...1,713,541
Ensembl chrNW_004955430:1,707,615...1,713,541
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO SMPDB SMP:00551 NCBI chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO SMPDB SMP:00551 NCBI chrNW_004955527:1,769,280...1,792,496
Ensembl chrNW_004955527:1,768,940...1,792,361
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO SMPDB SMP:00551 NCBI chrNW_004955468:13,050,359...13,083,932
Ensembl chrNW_004955468:13,049,848...13,083,156
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO SMPDB SMP:00551 NCBI chrNW_004955412:13,768,501...13,778,944
Ensembl chrNW_004955412:13,768,501...13,778,932
JBrowse link
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO SMPDB SMP:00551 NCBI chrNW_004955424:2,810,557...2,838,827
Ensembl chrNW_004955424:2,810,557...2,842,036
JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO SMPDB SMP:00551 NCBI chrNW_004955421:20,089,471...20,350,334
Ensembl chrNW_004955421:20,089,237...20,350,843
JBrowse link
pyruvate dehydrogenase E3 deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO SMPDB SMP:00550 NCBI chrNW_004955413:27,027,341...27,065,227
Ensembl chrNW_004955413:27,027,341...27,065,227
JBrowse link
G Cs citrate synthase ISO SMPDB SMP:00550 NCBI chrNW_004955458:3,881,798...3,913,044
Ensembl chrNW_004955458:3,881,798...3,893,401
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00550 NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00550 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00550 NCBI chrNW_004955523:660,413...680,878
Ensembl chrNW_004955523:661,738...680,802
JBrowse link
G Fh fumarate hydratase ISO SMPDB SMP:00550 NCBI chrNW_004955406:10,535,801...10,558,649
Ensembl chrNW_004955406:10,535,323...10,561,627
JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO SMPDB SMP:00550 NCBI chrNW_004955450:685,905...703,593
Ensembl chrNW_004955450:685,905...703,586
JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO SMPDB SMP:00550 NCBI chrNW_004955415:13,642,804...13,649,023
Ensembl chrNW_004955415:13,643,168...13,649,463
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO SMPDB SMP:00550 NCBI chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608
JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00550 NCBI chrNW_004955456:14,819,406...14,833,547
Ensembl chrNW_004955456:14,819,406...14,837,142
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00550 NCBI chrNW_004955439:15,515,966...15,531,618
Ensembl chrNW_004955439:15,516,090...15,531,116
JBrowse link
G Ogdh oxoglutarate dehydrogenase ISO SMPDB SMP:00550 NCBI chrNW_004955456:7,416,343...7,484,889
Ensembl chrNW_004955456:7,415,589...7,485,515
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00550 NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00550 NCBI chrNW_004955586:98,492...114,927
Ensembl chrNW_004955586:97,172...114,928
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00550 NCBI chrNW_004955430:1,707,615...1,713,541
Ensembl chrNW_004955430:1,707,615...1,713,541
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO SMPDB SMP:00550 NCBI chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO SMPDB SMP:00550 NCBI chrNW_004955527:1,769,280...1,792,496
Ensembl chrNW_004955527:1,768,940...1,792,361
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO SMPDB SMP:00550 NCBI chrNW_004955468:13,050,359...13,083,932
Ensembl chrNW_004955468:13,049,848...13,083,156
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO SMPDB SMP:00550 NCBI chrNW_004955412:13,768,501...13,778,944
Ensembl chrNW_004955412:13,768,501...13,778,932
JBrowse link
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO SMPDB SMP:00550 NCBI chrNW_004955424:2,810,557...2,838,827
Ensembl chrNW_004955424:2,810,557...2,842,036
JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO SMPDB SMP:00550 NCBI chrNW_004955421:20,089,471...20,350,334
Ensembl chrNW_004955421:20,089,237...20,350,843
JBrowse link
pyruvate kinase deficiency of red cells pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaca acetyl-CoA carboxylase alpha ISO SMPDB SMP:00559 NCBI chrNW_004955451:679,033...909,892
Ensembl chrNW_004955451:600,254...909,892
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00559 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00559 NCBI chrNW_004955418:28,829,316...28,872,629
Ensembl chrNW_004955418:28,829,144...28,875,486
JBrowse link
G Acss2 acyl-CoA synthetase short chain family member 2 ISO SMPDB SMP:00559 NCBI chrNW_004955422:26,450,899...26,500,336
Ensembl chrNW_004955422:26,451,598...26,500,546
JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00559 NCBI chrNW_004955523:499,508...507,809
Ensembl chrNW_004955523:499,508...508,273
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00559 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00559 NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00559 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Glo1 glyoxalase I ISO SMPDB SMP:00559 NCBI chrNW_004955437:4,728,709...4,749,834
Ensembl chrNW_004955437:4,728,709...4,749,834
JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00559 NCBI chrNW_004955419:29,032,591...29,044,046
Ensembl chrNW_004955419:29,032,600...29,044,257
JBrowse link
G Hagh hydroxyacylglutathione hydrolase ISO SMPDB SMP:00559 NCBI chrNW_004955442:15,451,910...15,465,211
Ensembl chrNW_004955442:15,451,910...15,465,211
JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00559 NCBI chrNW_004955484:2,461,545...2,466,702
Ensembl chrNW_004955484:2,460,762...2,466,702
JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00559 NCBI chrNW_004955424:20,707,765...20,723,493
Ensembl chrNW_004955424:20,706,058...20,723,493
JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00559 NCBI chrNW_004955411:10,938,580...11,084,171
Ensembl chrNW_004955411:10,938,944...11,065,085
JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00559 NCBI chrNW_004955402:35,816,474...35,894,051
Ensembl chrNW_004955402:35,835,578...35,894,051
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00559 NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00559 NCBI chrNW_004955445:1,909,012...1,914,032
Ensembl chrNW_004955445:1,908,946...1,915,002
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00559 NCBI chrNW_004955586:98,492...114,927
Ensembl chrNW_004955586:97,172...114,928
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00559 NCBI chrNW_004955430:1,707,615...1,713,541
Ensembl chrNW_004955430:1,707,615...1,713,541
JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00559 NCBI chrNW_004955545:1,742,432...1,749,632
Ensembl chrNW_004955545:1,739,152...1,749,632
JBrowse link
Refsum disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO SMPDB SMP:00451 NCBI chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00451 NCBI chrNW_004955505:717,800...769,702
Ensembl chrNW_004955505:721,222...798,470
JBrowse link
G Aldh3a2 aldehyde dehydrogenase 3 family member A2 ISO SMPDB SMP:00451 NCBI chrNW_004955467:141,592...162,376
Ensembl chrNW_004955467:140,760...162,742
JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO SMPDB SMP:00451 NCBI chrNW_004955430:2,055,774...2,096,260
Ensembl chrNW_004955430:2,053,640...2,096,432
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO SMPDB SMP:00451 NCBI chrNW_004955462:1,238,622...1,250,731
Ensembl chrNW_004955462:1,238,622...1,250,736
JBrowse link
G Slc27a2 solute carrier family 27 member 2 ISO SMPDB SMP:00451 NCBI chrNW_004955409:4,077,685...4,112,828
Ensembl chrNW_004955409:4,077,149...4,112,828
JBrowse link
ribose 5-phosphate isomerase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00519 NCBI chrNW_004955493:6,904,931...6,910,682
Ensembl chrNW_004955493:6,904,091...6,908,959
JBrowse link
G Dera deoxyribose-phosphate aldolase ISO SMPDB SMP:00519 NCBI chrNW_004955413:12,571,341...12,682,985
Ensembl chrNW_004955413:12,571,176...12,685,852
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00519 NCBI chrNW_004955422:21,537,337...21,569,174
Ensembl chrNW_004955422:21,536,667...21,569,433
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO SMPDB SMP:00519 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00519 NCBI chrNW_004955468:3,980,999...4,007,553
Ensembl chrNW_004955468:3,980,999...4,008,652
JBrowse link
G Pfkl phosphofructokinase, liver type ISO SMPDB SMP:00519 NCBI chrNW_004955407:41,131,022...41,145,392
Ensembl chrNW_004955407:41,131,022...41,145,394
JBrowse link
G Pgd phosphogluconate dehydrogenase ISO SMPDB SMP:00519 NCBI chrNW_004955486:3,344,705...3,356,906
Ensembl chrNW_004955486:3,343,863...3,357,066
JBrowse link
G Pgls 6-phosphogluconolactonase ISO SMPDB SMP:00519 NCBI chrNW_004955524:797,439...801,070
Ensembl chrNW_004955524:793,239...801,107
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00519 NCBI chrNW_004955423:26,408,775...26,437,527
Ensembl chrNW_004955423:26,408,595...26,437,527
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00519 NCBI chrNW_004955410:20,987,289...20,988,852 JBrowse link
G Rbks ribokinase ISO SMPDB SMP:00519 NCBI chrNW_004955469:9,734,551...9,831,397
Ensembl chrNW_004955469:9,734,563...9,831,127
JBrowse link
G Rpe ribulose-5-phosphate-3-epimerase ISO SMPDB SMP:00519 NCBI chrNW_004955457:5,425,532...5,441,538
Ensembl chrNW_004955457:5,425,532...5,441,866
JBrowse link
G Rpia ribose 5-phosphate isomerase A ISO SMPDB SMP:00519 NCBI chrNW_004955424:107,297...135,577
Ensembl chrNW_004955424:106,978...135,612
JBrowse link
G Taldo1 transaldolase 1 ISO SMPDB SMP:00519 NCBI chrNW_004955476:11,356,601...11,364,573
Ensembl chrNW_004955476:11,356,603...11,364,259
JBrowse link
G Tkt transketolase ISO SMPDB SMP:00519 NCBI chrNW_004955430:3,178,830...3,193,241
Ensembl chrNW_004955430:3,178,830...3,193,345
JBrowse link
saccharopinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955479:3,746,003...3,805,835
Ensembl chrNW_004955479:3,742,757...3,814,338
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955521:4,365,075...4,396,105
Ensembl chrNW_004955521:4,364,638...4,396,129
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955462:103,501...163,472
Ensembl chrNW_004955462:103,598...162,344
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955523:660,413...680,878
Ensembl chrNW_004955523:661,738...680,802
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955496:1,835,034...1,861,410
Ensembl chrNW_004955496:1,835,034...1,861,407
JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955481:4,128,503...4,225,027
Ensembl chrNW_004955481:4,128,509...4,143,334
JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955552:2,117,972...2,141,144
Ensembl chrNW_004955552:2,117,755...2,141,231
JBrowse link
sarcosinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO SMPDB SMP:00244 NCBI chrNW_004955542:710,506...720,564
Ensembl chrNW_004955542:710,005...717,741
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00244 NCBI chrNW_004955532:3,810,469...3,823,456
Ensembl chrNW_004955532:3,810,464...3,823,456
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00244 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00244 NCBI chrNW_004955532:1,351,743...1,358,220
Ensembl chrNW_004955532:1,351,743...1,358,220
JBrowse link
G Bhmt betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00244 NCBI chrNW_004955425:21,992,219...22,009,389
Ensembl chrNW_004955425:21,991,665...22,009,855
JBrowse link
G Cbs cystathionine beta-synthase ISO SMPDB SMP:00244 NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00244 NCBI chrNW_004955423:21,542,587...21,567,935
Ensembl chrNW_004955423:21,542,179...21,567,786
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00244 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00244 NCBI chrNW_004955425:22,045,977...22,103,381
Ensembl chrNW_004955425:22,045,993...22,102,852
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00244 NCBI chrNW_004955495:6,536,541...6,539,424
Ensembl chrNW_004955495:6,536,544...6,539,424
JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00244 NCBI chrNW_004955410:31,778,654...31,819,287
Ensembl chrNW_004955410:31,779,543...31,819,113
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00244 NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603
JBrowse link
G Gcat glycine C-acetyltransferase ISO SMPDB SMP:00244 NCBI chrNW_004955413:24,184,997...24,192,178
Ensembl chrNW_004955413:24,184,997...24,192,229
JBrowse link
G Gldc glycine decarboxylase ISO SMPDB SMP:00244 NCBI chrNW_004955434:10,431,434...10,533,118
Ensembl chrNW_004955434:10,431,983...10,533,002
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00244 NCBI chrNW_004955532:3,933,964...3,939,858
Ensembl chrNW_004955532:3,936,160...3,942,868
JBrowse link
G Gnmt glycine N-methyltransferase ISO SMPDB SMP:00244 NCBI chrNW_004955437:8,944,288...8,946,642
Ensembl chrNW_004955437:8,944,047...8,946,642
JBrowse link
G Maoa amine oxidase [flavin-containing] A ISO SMPDB SMP:00244 NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO SMPDB SMP:00244 NCBI chrNW_004955435:22,757,473...22,803,123
Ensembl chrNW_004955435:22,757,454...22,803,123
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00244 NCBI chrNW_004955512:1,132,452...1,155,405
Ensembl chrNW_004955512:1,132,390...1,155,412
JBrowse link
G Psph phosphoserine phosphatase ISO SMPDB SMP:00244 NCBI chrNW_004955456:8,198,739...8,212,111
Ensembl chrNW_004955456:8,198,739...8,212,025
JBrowse link
G Sardh sarcosine dehydrogenase ISO SMPDB SMP:00244 NCBI chrNW_004955513:2,933,918...2,975,645
Ensembl chrNW_004955513:2,933,918...2,976,931
JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00244 NCBI chrNW_004955435:12,642,485...12,659,833
Ensembl chrNW_004955435:12,641,776...12,660,682
JBrowse link
G Sds serine dehydratase ISO SMPDB SMP:00244 NCBI chrNW_004955482:9,646,523...9,653,471
Ensembl chrNW_004955482:9,643,919...9,653,375
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00244 NCBI chrNW_004955478:10,972,791...11,001,535
Ensembl chrNW_004955478:10,978,139...11,001,202
JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00244 NCBI chrNW_004955458:4,957,614...4,962,691
Ensembl chrNW_004955458:4,957,602...4,962,691
JBrowse link
G Srr serine racemase ISO SMPDB SMP:00244 NCBI chrNW_004955481:919,692...940,066
Ensembl chrNW_004955481:871,654...937,770
JBrowse link
short-chain acyl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00235 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00235 NCBI chrNW_004955457:5,266,032...5,300,632
Ensembl chrNW_004955457:5,266,033...5,300,056
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00235 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00235 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00235 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00235 NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00235 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00235 NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00235 NCBI chrNW_004955422:17,105,887...17,159,696
Ensembl chrNW_004955422:17,109,256...17,159,838
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00235 NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00235 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00235 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00235 NCBI chrNW_004955469:8,183,945...8,233,869
Ensembl chrNW_004955469:8,183,945...8,233,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00235 NCBI chrNW_004955469:8,233,980...8,272,149
Ensembl chrNW_004955469:8,233,980...8,274,450
JBrowse link
sialic acid storage disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amdhd2 amidohydrolase domain containing 2 ISO SMPDB SMP:00240 NCBI chrNW_004955442:14,775,528...14,791,650
Ensembl chrNW_004955442:14,782,755...14,791,649
JBrowse link
G Chit1 chitinase 1 ISO SMPDB SMP:00240 NCBI chrNW_004955406:39,229,161...39,253,328
Ensembl chrNW_004955406:39,229,356...39,241,540
JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00240 NCBI chrNW_004955413:17,575,469...17,596,379
Ensembl chrNW_004955413:17,575,469...17,599,859
JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00240 NCBI chrNW_004955424:15,692,088...15,739,894
Ensembl chrNW_004955424:15,692,088...15,739,894
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00240 NCBI chrNW_004955472:56,623...92,553
Ensembl chrNW_004955472:45,926...97,082
JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00240 NCBI chrNW_004955415:11,770,111...11,783,430
Ensembl chrNW_004955415:11,770,063...11,784,188
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00240 NCBI chrNW_004955409:10,406,248...10,424,431
Ensembl chrNW_004955409:10,406,723...10,424,431
JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00240 NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00240 NCBI chrNW_004955437:21,733,314...21,824,303
Ensembl chrNW_004955437:21,731,584...21,816,324
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00240 NCBI chrNW_004955424:14,205,689...14,215,201
Ensembl chrNW_004955424:14,205,813...14,215,156
JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00240 NCBI chrNW_004955415:31,453,393...31,460,147
Ensembl chrNW_004955415:31,453,393...31,460,386
JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00240 NCBI chrNW_004955419:27,424,648...27,449,058
Ensembl chrNW_004955419:27,424,674...27,448,952
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00240 NCBI chrNW_004955406:21,633,979...21,670,279
Ensembl chrNW_004955406:21,633,032...21,670,958
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00240 NCBI chrNW_004955411:10,904,022...10,925,613
Ensembl chrNW_004955411:10,904,022...10,924,216
JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00240 NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027
JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO SMPDB SMP:00240 NCBI chrNW_004955493:8,693,933...8,719,250
Ensembl chrNW_004955493:8,693,679...8,719,250
JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00240 NCBI chrNW_004955462:13,765,197...13,799,937
Ensembl chrNW_004955462:13,760,693...13,800,417
JBrowse link
Smith-Lemli-Opitz Syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00389 NCBI chrNW_004955439:21,123,886...21,142,562
Ensembl chrNW_004955439:21,122,923...21,142,480
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00389 NCBI chrNW_004955464:4,533,928...4,557,893
Ensembl chrNW_004955464:4,533,928...4,558,133
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00389 NCBI chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370
JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00389 NCBI chrNW_004955403:53,068,011...53,081,499
Ensembl chrNW_004955403:53,067,637...53,081,499
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00389 NCBI chrNW_004955545:1,757,090...1,765,028
Ensembl chrNW_004955545:1,757,418...1,765,028
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00389 NCBI chrNW_004955492:4,582,998...4,593,194
Ensembl chrNW_004955492:4,583,633...4,589,144
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00389 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00389 NCBI chrNW_004955446:18,978,261...18,996,794
Ensembl chrNW_004955446:18,978,102...18,998,951
JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00389 NCBI chrNW_004955462:13,555,488...13,574,506
Ensembl chrNW_004955462:13,557,292...13,574,593
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00389 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
JBrowse link
G LOC102027002 lanosterol 14-alpha demethylase ISO SMPDB SMP:00389 NCBI chrNW_004955432:9,092,923...9,112,615
Ensembl chrNW_004955432:9,092,933...9,112,615
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00389 NCBI chrNW_004955407:42,633,658...42,653,399
Ensembl chrNW_004955407:42,633,658...42,653,399
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00389 NCBI chrNW_004955403:39,991,528...40,009,047
Ensembl chrNW_004955403:39,989,409...40,009,890
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00389 NCBI chrNW_004955541:2,578,584...2,581,823
Ensembl chrNW_004955541:2,579,074...2,581,821
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00389 NCBI chrNW_004955455:8,933,250...8,953,883
Ensembl chrNW_004955455:8,930,125...8,953,894
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00389 NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00389 NCBI chrNW_004955545:1,421,562...1,440,038
Ensembl chrNW_004955545:1,421,562...1,440,038
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00389 NCBI chrNW_004955412:22,274,131...22,288,870
Ensembl chrNW_004955412:22,274,250...22,288,870
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00389 NCBI chrNW_004955406:18,644,351...18,708,666
Ensembl chrNW_004955406:18,655,894...18,706,891
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00389 NCBI chrNW_004955461:121,886...143,389
Ensembl chrNW_004955461:122,528...143,064
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00389 NCBI chrNW_004955422:20,086,994...20,091,707
Ensembl chrNW_004955422:20,086,994...20,091,707
JBrowse link
succinic semialdehyde dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955527:338,593...369,528
Ensembl chrNW_004955527:338,593...372,872
JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family member A1 ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955483:2,467,425...2,494,416
Ensembl chrNW_004955483:2,467,425...2,494,416
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955493:2,083,272...2,113,403
Ensembl chrNW_004955493:2,090,940...2,113,843
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955449:3,964,006...4,001,850
Ensembl chrNW_004955449:3,963,705...4,001,850
JBrowse link
G Gclc glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955411:2,593,523...2,617,553
Ensembl chrNW_004955411:2,593,541...2,616,539
JBrowse link
G Gclm glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955423:782,468...805,384
Ensembl chrNW_004955423:782,468...805,384
JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955424:15,692,088...15,739,894
Ensembl chrNW_004955424:15,692,088...15,739,894
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955458:4,055,088...4,065,307
Ensembl chrNW_004955458:4,050,674...4,065,322
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955510:5,987,811...6,021,001
Ensembl chrNW_004955510:5,988,965...6,020,995
JBrowse link
G Glul glutamate-ammonia ligase ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955406:21,266,383...21,274,546
Ensembl chrNW_004955406:21,266,383...21,275,309
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955448:6,931,891...6,984,662
Ensembl chrNW_004955448:6,932,926...6,984,662
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955409:10,406,248...10,424,431
Ensembl chrNW_004955409:10,406,723...10,424,431
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955433:16,121,795...16,145,129
Ensembl chrNW_004955433:16,122,824...16,145,113
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583
JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955422:26,427,581...26,483,380
Ensembl chrNW_004955422:26,427,581...26,463,781
JBrowse link
G Nadsyn1 NAD synthetase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955422:15,067,711...15,113,942
Ensembl chrNW_004955422:15,066,708...15,114,049
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955424:14,205,689...14,215,201
Ensembl chrNW_004955424:14,205,813...14,215,156
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955447:14,552,846...14,607,416
Ensembl chrNW_004955447:14,574,407...14,607,416
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chrNW_004955532:1,093,444...1,100,591
Ensembl chrNW_004955532:1,092,125...1,100,603
JBrowse link
sulfite oxidase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO SMPDB SMP:00532 NCBI chrNW_004955520:3,521,096...3,543,255
Ensembl chrNW_004955520:3,524,684...3,544,666
JBrowse link
G Chst11 carbohydrate sulfotransferase 11 ISO SMPDB SMP:00532 NCBI chrNW_004955405:38,985,046...39,134,130
Ensembl chrNW_004955405:38,985,046...39,139,021
JBrowse link
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO SMPDB SMP:00532 NCBI chrNW_004955425:5,186,232...5,259,080
Ensembl chrNW_004955425:5,187,952...5,258,955
JBrowse link
G Sult2b1 sulfotransferase family 2B member 1 ISO SMPDB SMP:00532 NCBI chrNW_004955559:1,942,878...1,968,895 JBrowse link
G Suox sulfite oxidase ISO SMPDB SMP:00532 NCBI chrNW_004955458:3,584,390...3,589,764
Ensembl chrNW_004955458:3,585,482...3,590,559
JBrowse link
Tay-Sachs disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amdhd2 amidohydrolase domain containing 2 ISO SMPDB SMP:00390 NCBI chrNW_004955442:14,775,528...14,791,650
Ensembl chrNW_004955442:14,782,755...14,791,649
JBrowse link
G Chit1 chitinase 1 ISO SMPDB SMP:00390 NCBI chrNW_004955406:39,229,161...39,253,328
Ensembl chrNW_004955406:39,229,356...39,241,540
JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00390 NCBI chrNW_004955413:17,575,469...17,596,379
Ensembl chrNW_004955413:17,575,469...17,599,859
JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00390 NCBI chrNW_004955424:15,692,088...15,739,894
Ensembl chrNW_004955424:15,692,088...15,739,894
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00390 NCBI chrNW_004955472:56,623...92,553
Ensembl chrNW_004955472:45,926...97,082
JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00390 NCBI chrNW_004955415:11,770,111...11,783,430
Ensembl chrNW_004955415:11,770,063...11,784,188
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00390 NCBI chrNW_004955409:10,406,248...10,424,431
Ensembl chrNW_004955409:10,406,723...10,424,431
JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00390 NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00390 NCBI chrNW_004955437:21,733,314...21,824,303
Ensembl chrNW_004955437:21,731,584...21,816,324
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00390 NCBI chrNW_004955424:14,205,689...14,215,201
Ensembl chrNW_004955424:14,205,813...14,215,156
JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00390 NCBI chrNW_004955415:31,453,393...31,460,147
Ensembl chrNW_004955415:31,453,393...31,460,386
JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00390 NCBI chrNW_004955419:27,424,648...27,449,058
Ensembl chrNW_004955419:27,424,674...27,448,952
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00390 NCBI chrNW_004955406:21,633,979...21,670,279
Ensembl chrNW_004955406:21,633,032...21,670,958
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00390 NCBI chrNW_004955411:10,904,022...10,925,613
Ensembl chrNW_004955411:10,904,022...10,924,216
JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00390 NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027
JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO SMPDB SMP:00390 NCBI chrNW_004955493:8,693,933...8,719,250
Ensembl chrNW_004955493:8,693,679...8,719,250
JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00390 NCBI chrNW_004955462:13,765,197...13,799,937
Ensembl chrNW_004955462:13,760,693...13,800,417
JBrowse link
transaldolase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00520 NCBI chrNW_004955493:6,904,931...6,910,682
Ensembl chrNW_004955493:6,904,091...6,908,959
JBrowse link
G Dera deoxyribose-phosphate aldolase ISO SMPDB SMP:00520 NCBI chrNW_004955413:12,571,341...12,682,985
Ensembl chrNW_004955413:12,571,176...12,685,852
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00520 NCBI chrNW_004955422:21,537,337...21,569,174
Ensembl chrNW_004955422:21,536,667...21,569,433
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO SMPDB SMP:00520 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00520 NCBI chrNW_004955468:3,980,999...4,007,553
Ensembl chrNW_004955468:3,980,999...4,008,652
JBrowse link
G Pfkl phosphofructokinase, liver type ISO SMPDB SMP:00520 NCBI chrNW_004955407:41,131,022...41,145,392
Ensembl chrNW_004955407:41,131,022...41,145,394
JBrowse link
G Pgd phosphogluconate dehydrogenase ISO SMPDB SMP:00520 NCBI chrNW_004955486:3,344,705...3,356,906
Ensembl chrNW_004955486:3,343,863...3,357,066
JBrowse link
G Pgls 6-phosphogluconolactonase ISO SMPDB SMP:00520 NCBI chrNW_004955524:797,439...801,070
Ensembl chrNW_004955524:793,239...801,107
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00520 NCBI chrNW_004955423:26,408,775...26,437,527
Ensembl chrNW_004955423:26,408,595...26,437,527
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00520 NCBI chrNW_004955410:20,987,289...20,988,852 JBrowse link
G Rbks ribokinase ISO SMPDB SMP:00520 NCBI chrNW_004955469:9,734,551...9,831,397
Ensembl chrNW_004955469:9,734,563...9,831,127
JBrowse link
G Rpe ribulose-5-phosphate-3-epimerase ISO SMPDB SMP:00520 NCBI chrNW_004955457:5,425,532...5,441,538
Ensembl chrNW_004955457:5,425,532...5,441,866
JBrowse link
G Rpia ribose 5-phosphate isomerase A ISO SMPDB SMP:00520 NCBI chrNW_004955424:107,297...135,577
Ensembl chrNW_004955424:106,978...135,612
JBrowse link
G Taldo1 transaldolase 1 ISO SMPDB SMP:00520 NCBI chrNW_004955476:11,356,601...11,364,573
Ensembl chrNW_004955476:11,356,603...11,364,259
JBrowse link
G Tkt transketolase ISO SMPDB SMP:00520 NCBI chrNW_004955430:3,178,830...3,193,241
Ensembl chrNW_004955430:3,178,830...3,193,345
JBrowse link
trifunctional protein deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00545 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00545 NCBI chrNW_004955457:5,266,032...5,300,632
Ensembl chrNW_004955457:5,266,033...5,300,056
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00545 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00545 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00545 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00545 NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00545 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00545 NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00545 NCBI chrNW_004955422:17,105,887...17,159,696
Ensembl chrNW_004955422:17,109,256...17,159,838
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00545 NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00545 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00545 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00545 NCBI chrNW_004955469:8,183,945...8,233,869
Ensembl chrNW_004955469:8,183,945...8,233,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00545 NCBI chrNW_004955469:8,233,980...8,272,149
Ensembl chrNW_004955469:8,233,980...8,274,450
JBrowse link
triosephosphate isomerase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00563 NCBI chrNW_004955493:6,904,931...6,910,682
Ensembl chrNW_004955493:6,904,091...6,908,959
JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00563 NCBI chrNW_004955494:7,867,295...7,889,440
Ensembl chrNW_004955494:7,866,693...7,883,641
JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00563 NCBI chrNW_004955486:4,275,371...4,287,152
Ensembl chrNW_004955486:4,274,238...4,289,809
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00563 NCBI chrNW_004955422:21,537,337...21,569,174
Ensembl chrNW_004955422:21,536,667...21,569,433
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00563 NCBI chrNW_004955451:16,672,512...16,680,001
Ensembl chrNW_004955451:16,672,979...16,680,001
JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00563 NCBI chrNW_004955441:6,330,520...6,399,522
Ensembl chrNW_004955441:6,330,410...6,403,219
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00563 NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00563 NCBI chrNW_004955468:3,980,999...4,007,553
Ensembl chrNW_004955468:3,980,999...4,008,652
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00563 NCBI chrNW_004955424:10,897,528...10,966,025
Ensembl chrNW_004955424:10,897,485...10,966,025
JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00563 NCBI chrNW_004955456:14,819,406...14,833,547
Ensembl chrNW_004955456:14,819,406...14,837,142
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00563 NCBI chrNW_004955439:15,515,966...15,531,618
Ensembl chrNW_004955439:15,516,090...15,531,116
JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00563 NCBI chrNW_004955425:3,384,023...3,433,808
Ensembl chrNW_004955425:3,384,200...3,432,431
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00563 NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00563 NCBI chrNW_004955445:1,909,012...1,914,032
Ensembl chrNW_004955445:1,908,946...1,915,002
JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00563 NCBI chrNW_004955507:3,562,513...3,571,400
Ensembl chrNW_004955507:3,562,513...3,571,400
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00563 NCBI chrNW_004955456:7,909,891...7,912,116
Ensembl chrNW_004955456:7,909,891...7,912,116
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00563 NCBI chrNW_004955423:26,408,775...26,437,527
Ensembl chrNW_004955423:26,408,595...26,437,527
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00563 NCBI chrNW_004955467:10,349,378...10,352,649
Ensembl chrNW_004955467:10,349,378...10,355,368
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00563 NCBI chrNW_004955420:1,101,769...1,129,672
Ensembl chrNW_004955420:1,101,769...1,129,715
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00563 NCBI chrNW_004955412:20,133,652...20,140,134
Ensembl chrNW_004955412:20,133,652...20,139,542
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00563 NCBI chrNW_004955413:4,467,615...4,471,594
Ensembl chrNW_004955413:4,467,566...4,471,177
JBrowse link
tyrosinemia type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00218 NCBI chrNW_004955467:96,140...105,738
Ensembl chrNW_004955467:96,140...105,738
JBrowse link
G Aoc1 amine oxidase copper containing 1 ISO SMPDB SMP:00218 NCBI chrNW_004955491:5,316,482...5,326,262
Ensembl chrNW_004955491:5,316,476...5,326,305
JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00218 NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412
JBrowse link
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00218 NCBI chrNW_004955513:2,918,085...2,932,481
Ensembl chrNW_004955513:2,918,286...2,932,247
JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00218 NCBI chrNW_004955404:15,359,402...15,395,556
Ensembl chrNW_004955404:15,359,402...15,395,535
JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00218 NCBI chrNW_004955456:3,513,779...3,582,851
Ensembl chrNW_004955456:3,513,042...3,582,911
JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00218 NCBI chrNW_004955533:904,294...921,730
Ensembl chrNW_004955533:904,295...921,730
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00218 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00218 NCBI chrNW_004955438:1,218,990...1,231,407
Ensembl chrNW_004955438:1,219,018...1,231,287
JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00218 NCBI chrNW_004955441:10,114,863...10,128,948
Ensembl chrNW_004955441:10,110,380...10,129,015
JBrowse link
G Hgd homogentisate 1,2-dioxygenase ISO SMPDB SMP:00218 NCBI chrNW_004955427:20,141,522...20,188,700
Ensembl chrNW_004955427:20,137,861...20,188,700
JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00218 NCBI chrNW_004955482:6,586,975...6,595,034
Ensembl chrNW_004955482:6,586,975...6,595,034
JBrowse link
G Maoa amine oxidase [flavin-containing] A ISO SMPDB SMP:00218 NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317
JBrowse link
G Mif macrophage migration inhibitory factor ISO SMPDB SMP:00218 NCBI chrNW_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460
JBrowse link
G Pnmt phenylethanolamine N-methyltransferase ISO SMPDB SMP:00218 NCBI chrNW_004955451:14,414,836...14,417,972
Ensembl chrNW_004955451:14,416,121...14,417,901
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00218 NCBI chrNW_004955484:4,278,083...4,287,535
Ensembl chrNW_004955484:4,276,953...4,287,627
JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00218 NCBI chrNW_004955414:4,244,035...4,314,001
Ensembl chrNW_004955414:4,244,035...4,314,001
JBrowse link
tyrosinemia type II pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00369 NCBI chrNW_004955533:904,294...921,730
Ensembl chrNW_004955533:904,295...921,730
JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00369 NCBI chrNW_004955415:31,972,888...31,981,424
Ensembl chrNW_004955415:31,968,980...31,981,424
JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00369 NCBI chrNW_004955453:11,176,481...11,237,243
Ensembl chrNW_004955453:11,176,432...11,240,780
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00369 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00369 NCBI chrNW_004955438:1,218,990...1,231,407
Ensembl chrNW_004955438:1,219,018...1,231,287
JBrowse link
G Hgd homogentisate 1,2-dioxygenase ISO SMPDB SMP:00369 NCBI chrNW_004955427:20,141,522...20,188,700
Ensembl chrNW_004955427:20,137,861...20,188,700
JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00369 NCBI chrNW_004955482:6,586,975...6,595,034
Ensembl chrNW_004955482:6,586,975...6,595,034
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00369 NCBI chrNW_004955559:1,012,634...1,047,051
Ensembl chrNW_004955559:1,034,917...1,047,034
JBrowse link
G Pah phenylalanine hydroxylase ISO SMPDB SMP:00369 NCBI chrNW_004955405:37,848,486...37,909,163
Ensembl chrNW_004955405:37,846,354...37,909,457
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00369 NCBI chrNW_004955484:4,278,083...4,287,535
Ensembl chrNW_004955484:4,276,953...4,287,627
JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00369 NCBI chrNW_004955452:11,046,047...11,078,016
Ensembl chrNW_004955452:11,046,047...11,078,016
JBrowse link
tyrosinemia type III pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 ISO SMPDB SMP:00434 NCBI chrNW_004955432:4,911,774...5,085,349
Ensembl chrNW_004955432:4,912,184...5,007,188
JBrowse link
G Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) ISO SMPDB SMP:00434 NCBI chrNW_004955442:729,322...858,826
Ensembl chrNW_004955442:729,316...860,290
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO SMPDB SMP:00434 NCBI chrNW_004955507:5,724,788...5,791,281
Ensembl chrNW_004955507:5,724,762...5,790,812
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) ISO SMPDB SMP:00434 NCBI chrNW_004955474:12,365,903...12,408,715
Ensembl chrNW_004955474:12,355,731...12,408,969
JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00370 NCBI chrNW_004955533:904,294...921,730
Ensembl chrNW_004955533:904,295...921,730
JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00370 NCBI chrNW_004955415:31,972,888...31,981,424
Ensembl chrNW_004955415:31,968,980...31,981,424
JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00370 NCBI chrNW_004955453:11,176,481...11,237,243
Ensembl chrNW_004955453:11,176,432...11,240,780
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00370 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00370 NCBI chrNW_004955438:1,218,990...1,231,407
Ensembl chrNW_004955438:1,219,018...1,231,287
JBrowse link
G Hgd homogentisate 1,2-dioxygenase ISO SMPDB SMP:00370 NCBI chrNW_004955427:20,141,522...20,188,700
Ensembl chrNW_004955427:20,137,861...20,188,700
JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00370 NCBI chrNW_004955482:6,586,975...6,595,034
Ensembl chrNW_004955482:6,586,975...6,595,034
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00370 NCBI chrNW_004955559:1,012,634...1,047,051
Ensembl chrNW_004955559:1,034,917...1,047,034
JBrowse link
G Pah phenylalanine hydroxylase ISO SMPDB SMP:00370 NCBI chrNW_004955405:37,848,486...37,909,163
Ensembl chrNW_004955405:37,846,354...37,909,457
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00370 NCBI chrNW_004955484:4,278,083...4,287,535
Ensembl chrNW_004955484:4,276,953...4,287,627
JBrowse link
G Tubb1 tubulin beta 1 class VI ISO SMPDB SMP:00434 NCBI chrNW_004955445:569,504...576,129
Ensembl chrNW_004955445:569,504...576,345
JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00370 NCBI chrNW_004955452:11,046,047...11,078,016
Ensembl chrNW_004955452:11,046,047...11,078,016
JBrowse link
variegate porphyria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO SMPDB SMP:00346 NCBI chrNW_004955419:14,093,010...14,104,376
Ensembl chrNW_004955419:14,093,010...14,104,545
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00346 NCBI chrNW_004955532:3,810,469...3,823,456
Ensembl chrNW_004955532:3,810,464...3,823,456
JBrowse link
G Blvra biliverdin reductase A ISO SMPDB SMP:00346 NCBI chrNW_004955460:129,077...167,345
Ensembl chrNW_004955460:125,854...167,506
JBrowse link
G Cox15 cytochrome c oxidase assembly factor COX15 ISO SMPDB SMP:00346 NCBI chrNW_004955507:5,600,605...5,617,556
Ensembl chrNW_004955507:5,600,605...5,617,556
JBrowse link
G Cpox coproporphyrinogen oxidase ISO SMPDB SMP:00346 NCBI chrNW_004955427:152,397...163,570
Ensembl chrNW_004955427:152,894...164,030
JBrowse link
G Fech ferrochelatase ISO SMPDB SMP:00346 NCBI chrNW_004955402:41,902,868...41,938,099
Ensembl chrNW_004955402:41,902,868...41,938,174
JBrowse link
G Ftmt ferritin mitochondrial ISO SMPDB SMP:00346 NCBI chrNW_004955521:76,591...77,470 JBrowse link
G Gusb glucuronidase beta ISO SMPDB SMP:00346 NCBI chrNW_004955456:8,377,161...8,392,298
Ensembl chrNW_004955456:8,378,654...8,392,252
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO SMPDB SMP:00346 NCBI chrNW_004955412:20,192,519...20,202,635
Ensembl chrNW_004955412:20,192,522...20,202,635
JBrowse link
G Hmox1 heme oxygenase 1 ISO SMPDB SMP:00346 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
JBrowse link
G LOC102022268 protoheme IX farnesyltransferase, mitochondrial ISO SMPDB SMP:00346 NCBI chrNW_004955467:3,294,200...3,415,778
Ensembl chrNW_004955467:3,292,018...3,415,778
JBrowse link
G Ppox protoporphyrinogen oxidase ISO SMPDB SMP:00346 NCBI chrNW_004955468:12,930,387...12,934,437
Ensembl chrNW_004955468:12,930,495...12,934,437
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO SMPDB SMP:00346 NCBI chrNW_004955464:13,226,271...13,228,908
Ensembl chrNW_004955464:13,221,551...13,229,253
JBrowse link
G Uros uroporphyrinogen III synthase ISO SMPDB SMP:00346 NCBI chrNW_004955477:3,673,583...3,707,761
Ensembl chrNW_004955477:3,673,532...3,707,760
JBrowse link
very long-chain acyl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00540 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00540 NCBI chrNW_004955457:5,266,032...5,300,632
Ensembl chrNW_004955457:5,266,033...5,300,056
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00540 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00540 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00540 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00540 NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00540 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00540 NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00540 NCBI chrNW_004955422:17,105,887...17,159,696
Ensembl chrNW_004955422:17,109,256...17,159,838
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00540 NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00540 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00540 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00540 NCBI chrNW_004955469:8,183,945...8,233,869
Ensembl chrNW_004955469:8,183,945...8,233,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00540 NCBI chrNW_004955469:8,233,980...8,272,149
Ensembl chrNW_004955469:8,233,980...8,274,450
JBrowse link
Wolman disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955439:21,123,886...21,142,562
Ensembl chrNW_004955439:21,122,923...21,142,480
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955464:4,533,928...4,557,893
Ensembl chrNW_004955464:4,533,928...4,558,133
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370
JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955403:53,068,011...53,081,499
Ensembl chrNW_004955403:53,067,637...53,081,499
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955545:1,757,090...1,765,028
Ensembl chrNW_004955545:1,757,418...1,765,028
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955492:4,582,998...4,593,194
Ensembl chrNW_004955492:4,583,633...4,589,144
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955446:18,978,261...18,996,794
Ensembl chrNW_004955446:18,978,102...18,998,951
JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955462:13,555,488...13,574,506
Ensembl chrNW_004955462:13,557,292...13,574,593
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
JBrowse link
G LOC102027002 lanosterol 14-alpha demethylase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955432:9,092,923...9,112,615
Ensembl chrNW_004955432:9,092,933...9,112,615
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955407:42,633,658...42,653,399
Ensembl chrNW_004955407:42,633,658...42,653,399
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955403:39,991,528...40,009,047
Ensembl chrNW_004955403:39,989,409...40,009,890
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955541:2,578,584...2,581,823
Ensembl chrNW_004955541:2,579,074...2,581,821
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955455:8,933,250...8,953,883
Ensembl chrNW_004955455:8,930,125...8,953,894
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955545:1,421,562...1,440,038
Ensembl chrNW_004955545:1,421,562...1,440,038
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955412:22,274,131...22,288,870
Ensembl chrNW_004955412:22,274,250...22,288,870
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955406:18,644,351...18,708,666
Ensembl chrNW_004955406:18,655,894...18,706,891
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955461:121,886...143,389
Ensembl chrNW_004955461:122,528...143,064
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955422:20,086,994...20,091,707
Ensembl chrNW_004955422:20,086,994...20,091,707
JBrowse link
X-linked dominant chondrodysplasia punctata 2 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00388 NCBI chrNW_004955439:21,123,886...21,142,562
Ensembl chrNW_004955439:21,122,923...21,142,480
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00388 NCBI chrNW_004955464:4,533,928...4,557,893
Ensembl chrNW_004955464:4,533,928...4,558,133
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00388 NCBI chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370
JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00388 NCBI chrNW_004955403:53,068,011...53,081,499
Ensembl chrNW_004955403:53,067,637...53,081,499
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00388 NCBI chrNW_004955545:1,757,090...1,765,028
Ensembl chrNW_004955545:1,757,418...1,765,028
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00388 NCBI chrNW_004955492:4,582,998...4,593,194
Ensembl chrNW_004955492:4,583,633...4,589,144
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00388 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00388 NCBI chrNW_004955446:18,978,261...18,996,794
Ensembl chrNW_004955446:18,978,102...18,998,951
JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00388 NCBI chrNW_004955462:13,555,488...13,574,506
Ensembl chrNW_004955462:13,557,292...13,574,593
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00388 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
JBrowse link
G LOC102027002 lanosterol 14-alpha demethylase ISO SMPDB SMP:00388 NCBI chrNW_004955432:9,092,923...9,112,615
Ensembl chrNW_004955432:9,092,933...9,112,615
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00388 NCBI chrNW_004955407:42,633,658...42,653,399
Ensembl chrNW_004955407:42,633,658...42,653,399
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00388 NCBI chrNW_004955403:39,991,528...40,009,047
Ensembl chrNW_004955403:39,989,409...40,009,890
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00388 NCBI chrNW_004955541:2,578,584...2,581,823
Ensembl chrNW_004955541:2,579,074...2,581,821
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00388 NCBI chrNW_004955455:8,933,250...8,953,883
Ensembl chrNW_004955455:8,930,125...8,953,894
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00388 NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00388 NCBI chrNW_004955545:1,421,562...1,440,038
Ensembl chrNW_004955545:1,421,562...1,440,038
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00388 NCBI chrNW_004955412:22,274,131...22,288,870
Ensembl chrNW_004955412:22,274,250...22,288,870
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00388 NCBI chrNW_004955406:18,644,351...18,708,666
Ensembl chrNW_004955406:18,655,894...18,706,891
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00388 NCBI chrNW_004955461:121,886...143,389
Ensembl chrNW_004955461:122,528...143,064
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00388 NCBI chrNW_004955422:20,086,994...20,091,707
Ensembl chrNW_004955422:20,086,994...20,091,707
JBrowse link
xanthinuria type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00512 NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00512 NCBI chrNW_004955462:9,196,984...9,278,850
Ensembl chrNW_004955462:9,207,314...9,278,621
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00512 NCBI chrNW_004955413:26,067,463...26,084,669
Ensembl chrNW_004955413:26,067,516...26,088,527
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00512 NCBI chrNW_004955406:7,684,979...7,715,179
Ensembl chrNW_004955406:7,683,596...7,715,616
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00512 NCBI chrNW_004955419:799,415...807,138
Ensembl chrNW_004955419:799,410...811,029
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00512 NCBI chrNW_004955435:17,962,487...17,991,625
Ensembl chrNW_004955435:17,962,514...17,991,556
JBrowse link
G Aprt adenine phosphoribosyltransferase ISO SMPDB SMP:00512 NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906
JBrowse link
G Atad1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00512 NCBI chrNW_004955425:5,118,107...5,180,578
Ensembl chrNW_004955425:5,117,964...5,180,578
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00512 NCBI chrNW_004955457:704,213...729,702
Ensembl chrNW_004955457:704,213...730,134
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00512 NCBI chrNW_004955424:11,739,904...11,773,884
Ensembl chrNW_004955424:11,738,859...11,773,902
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00512 NCBI chrNW_004955523:1,407,812...1,441,829
Ensembl chrNW_004955523:1,421,749...1,441,829
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00512 NCBI chrNW_004955513:5,352,843...5,357,671
Ensembl chrNW_004955513:5,353,229...5,356,019
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00512 NCBI chrNW_004955407:32,944,638...32,975,142
Ensembl chrNW_004955407:32,944,164...32,973,863
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00512 NCBI chrNW_004955434:983,388...1,050,413
Ensembl chrNW_004955434:983,388...1,049,948
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00512 NCBI chrNW_004955483:9,559,079...9,608,807
Ensembl chrNW_004955483:9,559,079...9,608,953
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00512 NCBI chrNW_004955448:6,931,891...6,984,662
Ensembl chrNW_004955448:6,932,926...6,984,662
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00512 NCBI chrNW_004955412:9,218,029...9,480,333
Ensembl chrNW_004955412:9,225,305...9,480,206
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00512 NCBI chrNW_004955471:11,303,478...11,349,512
Ensembl chrNW_004955471:11,303,242...11,351,190
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00512 NCBI chrNW_004955581:299,010...305,032
Ensembl chrNW_004955581:299,280...305,032
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00512 NCBI chrNW_004955473:462,940...510,006
Ensembl chrNW_004955473:461,957...496,196
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00512 NCBI chrNW_004955479:9,388,241...9,406,717
Ensembl chrNW_004955479:9,388,108...9,406,764
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00512 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00512 NCBI chrNW_004955420:24,301,079...24,306,370
Ensembl chrNW_004955420:24,301,081...24,306,493
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00512 NCBI chrNW_004955485:7,318,006...7,394,448
Ensembl chrNW_004955485:7,317,588...7,394,448
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00512 NCBI chrNW_004955472:1,760,046...1,774,539
Ensembl chrNW_004955472:1,759,900...1,774,539
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00512 NCBI chrNW_004955462:190,872...211,975
Ensembl chrNW_004955462:190,999...203,736
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00512 NCBI chrNW_004955447:14,558,468...14,571,081
Ensembl chrNW_004955447:14,558,468...14,574,052
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00512 NCBI chrNW_004955439:16,114,530...16,370,648
Ensembl chrNW_004955439:16,114,530...16,365,146
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00512 NCBI chrNW_004955446:7,914,326...9,252,527
Ensembl chrNW_004955446:8,211,877...9,252,653
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00512 NCBI chrNW_004955467:8,640,044...8,660,950
Ensembl chrNW_004955467:8,640,044...8,660,979
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00512 NCBI chrNW_004955550:1,290,816...1,299,553
Ensembl chrNW_004955550:1,290,244...1,298,068
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00512 NCBI chrNW_004955447:14,552,846...14,607,416
Ensembl chrNW_004955447:14,574,407...14,607,416
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00512 NCBI chrNW_004955410:20,987,289...20,988,852 JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00512 NCBI chrNW_004955414:19,850,523...19,904,879
Ensembl chrNW_004955414:19,850,530...19,905,266
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00512 NCBI chrNW_004955487:5,477,097...5,481,422
Ensembl chrNW_004955487:5,476,954...5,483,049
JBrowse link
xanthinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00220 NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00220 NCBI chrNW_004955462:9,196,984...9,278,850
Ensembl chrNW_004955462:9,207,314...9,278,621
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00220 NCBI chrNW_004955413:26,067,463...26,084,669
Ensembl chrNW_004955413:26,067,516...26,088,527
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00220 NCBI chrNW_004955406:7,684,979...7,715,179
Ensembl chrNW_004955406:7,683,596...7,715,616
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00220 NCBI chrNW_004955419:799,415...807,138
Ensembl chrNW_004955419:799,410...811,029
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00220 NCBI chrNW_004955435:17,962,487...17,991,625
Ensembl chrNW_004955435:17,962,514...17,991,556
JBrowse link
G Aprt adenine phosphoribosyltransferase ISO SMPDB SMP:00220 NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906
JBrowse link
G Atad1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00220 NCBI chrNW_004955425:5,118,107...5,180,578
Ensembl chrNW_004955425:5,117,964...5,180,578
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00220 NCBI chrNW_004955457:704,213...729,702
Ensembl chrNW_004955457:704,213...730,134
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00220 NCBI chrNW_004955424:11,739,904...11,773,884
Ensembl chrNW_004955424:11,738,859...11,773,902
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00220 NCBI chrNW_004955523:1,407,812...1,441,829
Ensembl chrNW_004955523:1,421,749...1,441,829
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00220 NCBI chrNW_004955513:5,352,843...5,357,671
Ensembl chrNW_004955513:5,353,229...5,356,019
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00220 NCBI chrNW_004955407:32,944,638...32,975,142
Ensembl chrNW_004955407:32,944,164...32,973,863
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00220 NCBI chrNW_004955434:983,388...1,050,413
Ensembl chrNW_004955434:983,388...1,049,948
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00220 NCBI chrNW_004955483:9,559,079...9,608,807
Ensembl chrNW_004955483:9,559,079...9,608,953
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00220 NCBI chrNW_004955448:6,931,891...6,984,662
Ensembl chrNW_004955448:6,932,926...6,984,662
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00220 NCBI chrNW_004955412:9,218,029...9,480,333
Ensembl chrNW_004955412:9,225,305...9,480,206
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00220 NCBI chrNW_004955471:11,303,478...11,349,512
Ensembl chrNW_004955471:11,303,242...11,351,190
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00220 NCBI chrNW_004955581:299,010...305,032
Ensembl chrNW_004955581:299,280...305,032
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00220 NCBI chrNW_004955473:462,940...510,006
Ensembl chrNW_004955473:461,957...496,196
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00220 NCBI chrNW_004955479:9,388,241...9,406,717
Ensembl chrNW_004955479:9,388,108...9,406,764
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00220 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00220 NCBI chrNW_004955420:24,301,079...24,306,370
Ensembl chrNW_004955420:24,301,081...24,306,493
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00220 NCBI chrNW_004955485:7,318,006...7,394,448
Ensembl chrNW_004955485:7,317,588...7,394,448
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00220 NCBI chrNW_004955472:1,760,046...1,774,539
Ensembl chrNW_004955472:1,759,900...1,774,539
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00220 NCBI chrNW_004955462:190,872...211,975
Ensembl chrNW_004955462:190,999...203,736
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00220 NCBI chrNW_004955447:14,558,468...14,571,081
Ensembl chrNW_004955447:14,558,468...14,574,052
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00220 NCBI chrNW_004955439:16,114,530...16,370,648
Ensembl chrNW_004955439:16,114,530...16,365,146
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00220 NCBI chrNW_004955446:7,914,326...9,252,527
Ensembl chrNW_004955446:8,211,877...9,252,653
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00220 NCBI chrNW_004955467:8,640,044...8,660,950
Ensembl chrNW_004955467:8,640,044...8,660,979
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00220 NCBI chrNW_004955550:1,290,816...1,299,553
Ensembl chrNW_004955550:1,290,244...1,298,068
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00220 NCBI chrNW_004955447:14,552,846...14,607,416
Ensembl chrNW_004955447:14,574,407...14,607,416
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00220 NCBI chrNW_004955410:20,987,289...20,988,852 JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00220 NCBI chrNW_004955414:19,850,523...19,904,879
Ensembl chrNW_004955414:19,850,530...19,905,266
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00220 NCBI chrNW_004955487:5,477,097...5,481,422
Ensembl chrNW_004955487:5,476,954...5,483,049
JBrowse link
xanthinuria type II pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00513 NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00513 NCBI chrNW_004955462:9,196,984...9,278,850
Ensembl chrNW_004955462:9,207,314...9,278,621
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00513 NCBI chrNW_004955413:26,067,463...26,084,669
Ensembl chrNW_004955413:26,067,516...26,088,527
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00513 NCBI chrNW_004955406:7,684,979...7,715,179
Ensembl chrNW_004955406:7,683,596...7,715,616
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00513 NCBI chrNW_004955419:799,415...807,138
Ensembl chrNW_004955419:799,410...811,029
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00513 NCBI chrNW_004955435:17,962,487...17,991,625
Ensembl chrNW_004955435:17,962,514...17,991,556
JBrowse link
G Aprt adenine phosphoribosyltransferase ISO SMPDB SMP:00513 NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906
JBrowse link
G Atad1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00513 NCBI chrNW_004955425:5,118,107...5,180,578
Ensembl chrNW_004955425:5,117,964...5,180,578
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00513 NCBI chrNW_004955457:704,213...729,702
Ensembl chrNW_004955457:704,213...730,134
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00513 NCBI chrNW_004955424:11,739,904...11,773,884
Ensembl chrNW_004955424:11,738,859...11,773,902
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00513 NCBI chrNW_004955523:1,407,812...1,441,829
Ensembl chrNW_004955523:1,421,749...1,441,829
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00513 NCBI chrNW_004955513:5,352,843...5,357,671
Ensembl chrNW_004955513:5,353,229...5,356,019
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00513 NCBI chrNW_004955407:32,944,638...32,975,142
Ensembl chrNW_004955407:32,944,164...32,973,863
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00513 NCBI chrNW_004955434:983,388...1,050,413
Ensembl chrNW_004955434:983,388...1,049,948
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00513 NCBI chrNW_004955483:9,559,079...9,608,807
Ensembl chrNW_004955483:9,559,079...9,608,953
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00513 NCBI chrNW_004955448:6,931,891...6,984,662
Ensembl chrNW_004955448:6,932,926...6,984,662
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00513 NCBI chrNW_004955412:9,218,029...9,480,333
Ensembl chrNW_004955412:9,225,305...9,480,206
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00513 NCBI chrNW_004955471:11,303,478...11,349,512
Ensembl chrNW_004955471:11,303,242...11,351,190
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00513 NCBI chrNW_004955581:299,010...305,032
Ensembl chrNW_004955581:299,280...305,032
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00513 NCBI chrNW_004955473:462,940...510,006
Ensembl chrNW_004955473:461,957...496,196
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00513 NCBI chrNW_004955479:9,388,241...9,406,717
Ensembl chrNW_004955479:9,388,108...9,406,764
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00513 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00513 NCBI chrNW_004955420:24,301,079...24,306,370
Ensembl chrNW_004955420:24,301,081...24,306,493
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00513 NCBI chrNW_004955485:7,318,006...7,394,448
Ensembl chrNW_004955485:7,317,588...7,394,448
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00513 NCBI chrNW_004955472:1,760,046...1,774,539
Ensembl chrNW_004955472:1,759,900...1,774,539
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00513 NCBI chrNW_004955462:190,872...211,975
Ensembl chrNW_004955462:190,999...203,736
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00513 NCBI chrNW_004955447:14,558,468...14,571,081
Ensembl chrNW_004955447:14,558,468...14,574,052
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00513 NCBI chrNW_004955439:16,114,530...16,370,648
Ensembl chrNW_004955439:16,114,530...16,365,146
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00513 NCBI chrNW_004955446:7,914,326...9,252,527
Ensembl chrNW_004955446:8,211,877...9,252,653
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00513 NCBI chrNW_004955467:8,640,044...8,660,950
Ensembl chrNW_004955467:8,640,044...8,660,979
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00513 NCBI chrNW_004955550:1,290,816...1,299,553
Ensembl chrNW_004955550:1,290,244...1,298,068
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00513 NCBI chrNW_004955447:14,552,846...14,607,416
Ensembl chrNW_004955447:14,574,407...14,607,416
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00513 NCBI chrNW_004955410:20,987,289...20,988,852 JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00513 NCBI chrNW_004955414:19,850,523...19,904,879
Ensembl chrNW_004955414:19,850,530...19,905,266
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00513 NCBI chrNW_004955487:5,477,097...5,481,422
Ensembl chrNW_004955487:5,476,954...5,483,049
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 3923
    disease pathway 675
      congenital disease pathway 497
        inborn genetic disease pathway + 497
paths to the root