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PATHWAY ONTOLOGY - ANNOTATIONS

The Pathway Ontology (PW), is currently being developed at the Rat Genome Database. For more information about this vocabulary, please see Petri et al. The rat genome database pathway portal. Database (Oxford). 2011 Apr 8;2011:bar010. Print 2011 or contact us (http://rgd.mcw.edu/contact/index.shtml).

Term:disease pathway
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Accession:PW:0000013 term browser browse the term
Definition:Complex human diseases encompass a spectrum of genetic and environmental attributes that together affect the normal functioning of several molecular and cellular pathways. Their combined and accumulated effect is manifested in the anomalous phenotype of the complex condition.
Synonyms:related_synonym: Disease;   complex human diseases
 alt_id: Reactome:R-HSA-1643685


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11-beta-hydroxylase deficiency pathway term browser
Symbol Object Name Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 JBrowse link
G Glul glutamate-ammonia ligase ISO SMPDB SMP:00136 NCBI chrNW_004955406:21,266,383...21,274,546 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 Qualifiers 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 Qualifiers 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 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 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 methylcrotonoyl-CoA carboxylase 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 methylcrotonoyl-CoA carboxylase 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 Qualifiers 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 Qualifiers 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 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 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 methylcrotonoyl-CoA carboxylase 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 methylcrotonoyl-CoA carboxylase 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 Qualifiers 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 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 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 methylcrotonoyl-CoA carboxylase 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 methylcrotonoyl-CoA carboxylase 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 Qualifiers 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 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 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 methylcrotonoyl-CoA carboxylase 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 methylcrotonoyl-CoA carboxylase 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 Qualifiers 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 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 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 methylcrotonoyl-CoA carboxylase 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 methylcrotonoyl-CoA carboxylase 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 Qualifiers 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 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 LOC102017801 cytochrome c oxidase assembly protein COX15 homolog ISO SMPDB SMP:00344 NCBI chrNW_004955507:5,600,605...5,617,556 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 Qualifiers 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 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 Qualifiers 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 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 Qualifiers 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 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 Qualifiers 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 Qualifiers 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 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 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 carbamoyltransferase 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 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 Qualifiers 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 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
Alagille syndrome pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jag1 jagged canonical Notch ligand 1 ISO RGD PMID:15057910 RGD:1334443 NCBI chrNW_004955415:20,490,414...20,526,068
Ensembl chrNW_004955415:20,490,414...20,527,917
JBrowse link
alkaptonuria pathway term browser
Symbol Object Name Qualifiers 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
Alzheimer's disease pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102021956 alpha-2-macroglobulin ISO RGD PMID:9697696 RGD:1302534 NCBI chrNW_004955413:6,019,457...6,062,366
Ensembl chrNW_004955413:6,019,082...6,062,529
JBrowse link
G Psen2 presenilin 2 ISO DNA:missense mutation:cds:p.N141I (human) RGD PMID:10976645 RGD:9743900 NCBI chrNW_004955406:5,727,367...5,748,798
Ensembl chrNW_004955406:5,727,367...5,752,234
JBrowse link
G Ube2d3 ubiquitin conjugating enzyme E2 D3 ISO RGD PMID:11020223 RGD:1302873 NCBI chrNW_004955496:5,694,471...5,727,003
Ensembl chrNW_004955496:5,697,276...5,727,003
JBrowse link
G Ube2d4 ubiquitin conjugating enzyme E2 D4 (putative) ISO RGD PMID:11020223 RGD:1302873 NCBI chrNW_004955456:7,928,715...7,952,155
Ensembl chrNW_004955456:7,924,977...7,952,155
JBrowse link
G Ube2g1 ubiquitin conjugating enzyme E2 G1 ISO RGD PMID:11020223 RGD:1302873 NCBI chrNW_004955467:12,552,001...12,639,620
Ensembl chrNW_004955467:12,551,826...12,640,786
JBrowse link
G Ube2i ubiquitin conjugating enzyme E2 I ISO RGD PMID:11020223 RGD:1302873 NCBI chrNW_004955442:15,902,026...15,913,033
Ensembl chrNW_004955442:15,901,980...15,913,037
JBrowse link
G Ube2n ubiquitin conjugating enzyme E2 N ISO RGD PMID:11020223 RGD:1302873 NCBI chrNW_004955405:30,240,402...30,278,362 JBrowse link
amyotrophic lateral sclerosis pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a2 solute carrier family 1 member 2 ISO RGD PMID:9539131 RGD:1302517 NCBI chrNW_004955422:10,929,987...11,082,220
Ensembl chrNW_004955422:10,930,296...11,073,032
JBrowse link
G Sod1 superoxide dismutase 1 ISO RGD PMID:8446170, PMID:16583367 RGD:1581209, RGD:737689 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727
JBrowse link
apparent mineralocorticoid excess syndrome pathway term browser
Symbol Object Name Qualifiers 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 Qualifiers 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 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 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 carbamoyltransferase 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 Qualifiers 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
atherosclerosis pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:18206890 RGD:5509610 NCBI chrNW_004955467:10,032,792...10,039,789 JBrowse link
G Ldlr low density lipoprotein receptor ISO RGD PMID:12969990 RGD:1581826 NCBI chrNW_004955495:2,114,702...2,135,584
Ensembl chrNW_004955495:2,114,434...2,138,056
JBrowse link
G Lmna lamin A/C ISO RGD PMID:15205220 RGD:1580530 NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
JBrowse link
beta-ureidopropionase deficiency pathway term browser
Symbol Object Name Qualifiers 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 Qualifiers 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
bipolar disorder pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sstr5 somatostatin receptor 5 ISO RGD PMID:12192619 RGD:1358589 NCBI chrNW_004955442:16,169,069...16,176,054
Ensembl chrNW_004955442:16,168,941...16,176,203
JBrowse link
CADASIL pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO Mutations are predominantly found in the EGF repeats and clustered within the first five RGD PMID:9388399 RGD:1334441 NCBI chrNW_004955495:8,012,370...8,048,616
Ensembl chrNW_004955495:8,012,502...8,047,710
JBrowse link
Canavan disease pathway term browser
Symbol Object Name Qualifiers 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 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 Qualifiers 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 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 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 carbamoyltransferase 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
cardiomyopathy pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:15722372 RGD:1582275 NCBI chrNW_004955478:3,331,607...3,448,840
Ensembl chrNW_004955478:3,331,607...3,448,842
JBrowse link
cardiovascular system disease pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd14 CD14 molecule ISO RGD PMID:15310678 RGD:1580257 NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224
JBrowse link
G Igf1 insulin like growth factor 1 ISO RGD PMID:15996002 RGD:1580474 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
JBrowse link
G Sod3 superoxide dismutase 3 ISO RGD PMID:16014615 RGD:1579965 NCBI chrNW_004955480:257,716...263,149 JBrowse link
carnitine palmitoyltransferase I deficiency pathway term browser
Symbol Object Name Qualifiers 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 Qualifiers 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 Qualifiers 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 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 Qualifiers 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 Qualifiers 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 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 Qualifiers 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 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 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 carbamoyltransferase 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
colorectal cancer pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO RGD PMID:18432252 RGD:2293188 NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
JBrowse link
G Axin1 axin 1 ISO RGD PMID:18432252 RGD:2293188 NCBI chrNW_004955442:16,845,728...16,898,301
Ensembl chrNW_004955442:16,843,152...16,898,430
JBrowse link
G Axin2 axin 2 ISO RGD PMID:18432252 RGD:2293188 NCBI chrNW_004955478:4,952,551...4,982,223
Ensembl chrNW_004955478:4,952,488...4,982,225
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO RGD PMID:18098337 RGD:2298531 NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
G Ctnnb1 catenin beta 1 ISO RGD PMID:18432252 RGD:2293188 NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO RGD PMID:16112461 RGD:2306732 NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
JBrowse link
G Mlh1 mutL homolog 1 ISO RGD PMID:11900875 RGD:2306714 NCBI chrNW_004955421:3,890,291...3,936,892
Ensembl chrNW_004955421:3,890,306...3,936,526
JBrowse link
G Msh2 mutS homolog 2 ISO RGD PMID:11900875 RGD:2306714 NCBI chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698
JBrowse link
G Msh6 mutS homolog 6 ISO RGD PMID:11900875 RGD:2306714 NCBI chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227
JBrowse link
G Pms1 PMS1 homolog 1, mismatch repair system component ISO RGD PMID:11900875 RGD:2306714 NCBI chrNW_004955403:9,021,488...9,100,442
Ensembl chrNW_004955403:9,022,078...9,100,442
JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO RGD PMID:11900875 RGD:2306714 NCBI chrNW_004955460:13,762,854...13,791,462 JBrowse link
G Smad2 SMAD family member 2 ISO RGD PMID:17613544, PMID:18662538 RGD:2306282, RGD:2308865 NCBI chrNW_004955402:33,131,760...33,217,144
Ensembl chrNW_004955402:33,136,778...33,216,844
JBrowse link
G Smad3 SMAD family member 3 ISO RGD PMID:17613544 RGD:2306282 NCBI chrNW_004955450:8,747,651...8,842,003
Ensembl chrNW_004955450:8,747,651...8,842,136
JBrowse link
G Smad4 SMAD family member 4 ISO RGD PMID:17613544, PMID:18662538 RGD:2306282, RGD:2308865 NCBI chrNW_004955402:35,956,080...36,001,746
Ensembl chrNW_004955402:35,961,165...35,994,538
JBrowse link
G Smad7 SMAD family member 7 ISO RGD PMID:18662538 RGD:2308865 NCBI chrNW_004955402:34,028,184...34,058,949
Ensembl chrNW_004955402:34,028,063...34,058,291
JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO RGD PMID:17613544 RGD:2306282 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO RGD PMID:17613544 RGD:2306282 NCBI chrNW_004955419:26,490,899...26,546,349
Ensembl chrNW_004955419:26,490,899...26,547,017
JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO RGD PMID:17613544, PMID:18662538 RGD:2306282, RGD:2308865 NCBI chrNW_004955430:21,919,338...21,999,688
Ensembl chrNW_004955430:21,932,553...22,001,837
JBrowse link
congenital bile acid synthesis defect pathway term browser
Symbol Object Name Qualifiers 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 Qualifiers 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 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1, 6-glucosidase, 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 Qualifiers 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 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 Qualifiers 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 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 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 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 alpha subunit 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 beta subunit 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 delta subunit ISO SMPDB SMP:00723 NCBI chrNW_004955486:9,508,435...9,514,107 JBrowse link
G Scnn1g sodium channel epithelial 1 gamma subunit 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 Qualifiers 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 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 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 Qualifiers 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 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