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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_004936592:2,486,219...2,522,796 JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00575 NCBI chrNW_004936557:3,358,809...3,403,461 JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00575 NCBI chrNW_004936475:17,882,663...17,888,708 JBrowse link
G LOC101970767 steroid 17-alpha-hydroxylase/17,20 lyase ISO SMPDB SMP:00575 NCBI chrNW_004936600:3,097,620...3,102,713 JBrowse link
G LOC101975820 cholesterol side-chain cleavage enzyme, mitochondrial ISO SMPDB SMP:00575 NCBI chrNW_004936471:33,367,810...33,380,764 JBrowse link
G LOC101977414 steroid 21-hydroxylase ISO SMPDB SMP:00575 NCBI chrNW_004936727:1,550,783...1,553,327 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_004936592:2,486,219...2,522,796 JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00372 NCBI chrNW_004936557:3,358,809...3,403,461 JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00372 NCBI chrNW_004936475:17,882,663...17,888,708 JBrowse link
G LOC101970767 steroid 17-alpha-hydroxylase/17,20 lyase ISO SMPDB SMP:00372 NCBI chrNW_004936600:3,097,620...3,102,713 JBrowse link
G LOC101975820 cholesterol side-chain cleavage enzyme, mitochondrial ISO SMPDB SMP:00372 NCBI chrNW_004936471:33,367,810...33,380,764 JBrowse link
G LOC101977414 steroid 21-hydroxylase ISO SMPDB SMP:00372 NCBI chrNW_004936727:1,550,783...1,553,327 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 Aadat aminoadipate aminotransferase ISO SMPDB SMP:00719 NCBI chrNW_004936516:2,030,032...2,052,025 JBrowse link
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00719 NCBI chrNW_004936605:3,135,977...3,190,956 JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00719 NCBI chrNW_004936551:594,647...626,016 JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00719 NCBI chrNW_004936575:6,467,224...6,506,052 JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00719 NCBI chrNW_004936484:3,207,650...3,251,661 JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00719 NCBI chrNW_004936479:16,247,230...16,271,597 JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00719 NCBI chrNW_004936488:4,038,985...4,061,071 JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00719 NCBI chrNW_004936486:19,488,619...19,496,583 JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chrNW_004936659:1,955,601...1,961,925 JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chrNW_004936818:575,272...623,496 JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00719 NCBI chrNW_004936538:5,218,097...5,252,579 JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00719 NCBI chrNW_004936614:111,625...184,571 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_004936530:7,543,743...7,621,392 JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00136 NCBI chrNW_004936474:5,217,601...5,246,718 JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family member A1 ISO SMPDB SMP:00136 NCBI chrNW_004936671:843,577...865,798 JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00136 NCBI chrNW_004936493:5,308,268...5,332,934 JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00136 NCBI chrNW_004936586:5,739,038...5,850,317 JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00136 NCBI chrNW_004936501:8,190,466...8,209,320 JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00136 NCBI chrNW_004936509:1,160,559...1,201,037 JBrowse link
G Gclc glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00136 NCBI chrNW_004936476:7,371,270...7,418,756 JBrowse link
G Gclm glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00136 NCBI chrNW_004936537:5,356,914...5,378,998 JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00136 NCBI chrNW_004936491:13,603,256...13,665,298 JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00136 NCBI chrNW_004936646:825,957...842,184 JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00136 NCBI chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Glul glutamate-ammonia ligase ISO SMPDB SMP:00136 NCBI chrNW_004936481:7,293,301...7,301,416 JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00136 NCBI chrNW_004936519:3,094,763...3,143,322 JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00136 NCBI chrNW_004936697:2,079,396...2,087,602 JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00136 NCBI chrNW_004936475:10,438,715...10,462,915 JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00136 NCBI chrNW_004936470:7,765,810...7,770,837 JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00136 NCBI chrNW_004936792:531,076...579,083 JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00136 NCBI chrNW_004936561:5,765,637...5,793,951 JBrowse link
G Nadsyn1 NAD synthetase 1 ISO SMPDB SMP:00136 NCBI chrNW_004936794:1,394,975...1,423,807 JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00136 NCBI chrNW_004936491:15,183,493...15,193,069 JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00136 NCBI chrNW_004936482:18,606,124...18,648,989 JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00136 NCBI chrNW_004936529:802,753...810,270 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_004936592:2,486,219...2,522,796 JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00373 NCBI chrNW_004936557:3,358,809...3,403,461 JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00373 NCBI chrNW_004936475:17,882,663...17,888,708 JBrowse link
G LOC101970767 steroid 17-alpha-hydroxylase/17,20 lyase ISO SMPDB SMP:00373 NCBI chrNW_004936600:3,097,620...3,102,713 JBrowse link
G LOC101975820 cholesterol side-chain cleavage enzyme, mitochondrial ISO SMPDB SMP:00373 NCBI chrNW_004936471:33,367,810...33,380,764 JBrowse link
G LOC101977414 steroid 21-hydroxylase ISO SMPDB SMP:00373 NCBI chrNW_004936727:1,550,783...1,553,327 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_004936530:7,543,743...7,621,392 JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00138 NCBI chrNW_004936497:13,242,644...13,269,007 JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00138 NCBI chrNW_004936684:1,572,386...1,591,231 JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00138 NCBI chrNW_004936571:2,761,254...2,797,045 JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00138 NCBI chrNW_004936668:257,214...272,089 JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00138 NCBI chrNW_004936486:11,668,099...11,707,946 JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00138 NCBI chrNW_004936551:594,647...626,016 JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00138 NCBI chrNW_004936558:4,362,693...4,387,705 JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00138 NCBI chrNW_004936488:3,320,357...3,340,463 JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00138 NCBI chrNW_004936825:263,725...332,424 JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00138 NCBI chrNW_004936796:160,335...302,458 JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00138 NCBI chrNW_004936548:2,385,756...2,454,423 JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00138 NCBI chrNW_004936661:3,799,998...3,817,560 JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00138 NCBI chrNW_004936510:9,904,703...10,081,532 JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00138 NCBI chrNW_004936748:342,655...386,017 JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00138 NCBI chrNW_004936479:16,247,230...16,271,597 JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00138 NCBI chrNW_004936486:19,488,619...19,496,583 JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00138 NCBI chrNW_004936478:4,118,752...4,219,908 JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00138 NCBI chrNW_004936506:7,811,624...7,882,861 JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00138 NCBI chrNW_004936474:8,955,216...8,971,078 JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00138 NCBI chrNW_004936627:4,451,847...4,473,163 JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00138 NCBI chrNW_004936751:399,743...402,200 JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00138 NCBI chrNW_004936471:3,871,152...3,883,521 JBrowse link
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00138 NCBI chrNW_004936566:409,558...468,898 JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00138 NCBI chrNW_004936549:4,760,073...4,830,190 JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00138 NCBI chrNW_004936483:971,148...990,634 JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00138 NCBI chrNW_004936476:11,208,251...11,241,648 JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00138 NCBI chrNW_004936518:924,840...1,057,201 JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00138 NCBI chrNW_004936472:10,167,387...10,501,824 JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00138 NCBI chrNW_004936529:9,106,525...9,166,311 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_004936497:13,242,644...13,269,007 JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00568 NCBI chrNW_004936845:66,674...96,248 JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00568 NCBI chrNW_004936668:257,214...272,089 JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00568 NCBI chrNW_004936551:594,647...626,016 JBrowse link
G Acss3 acyl-CoA synthetase short chain family member 3 ISO SMPDB SMP:00568 NCBI chrNW_004936698:1,929,683...2,089,703 JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00568 NCBI chrNW_004936486:19,488,619...19,496,583 JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00568 NCBI chrNW_004936818:575,272...623,496 JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00568 NCBI chrNW_004936751:399,743...402,200 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_004936530:7,543,743...7,621,392 JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936497:13,242,644...13,269,007 JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936684:1,572,386...1,591,231 JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936571:2,761,254...2,797,045 JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936668:257,214...272,089 JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936486:11,668,099...11,707,946 JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936551:594,647...626,016 JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936558:4,362,693...4,387,705 JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936488:3,320,357...3,340,463 JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936825:263,725...332,424 JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936796:160,335...302,458 JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936548:2,385,756...2,454,423 JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936661:3,799,998...3,817,560 JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936510:9,904,703...10,081,532 JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936748:342,655...386,017 JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936479:16,247,230...16,271,597 JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936486:19,488,619...19,496,583 JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936478:4,118,752...4,219,908 JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936506:7,811,624...7,882,861 JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936474:8,955,216...8,971,078 JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936627:4,451,847...4,473,163 JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936751:399,743...402,200 JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936471:3,871,152...3,883,521 JBrowse link
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936566:409,558...468,898 JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936549:4,760,073...4,830,190 JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936483:971,148...990,634 JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936476:11,208,251...11,241,648 JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936518:924,840...1,057,201 JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936472:10,167,387...10,501,824 JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00521, SMP:00522 NCBI chrNW_004936529:9,106,525...9,166,311 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_004936530:7,543,743...7,621,392 JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00237 NCBI chrNW_004936497:13,242,644...13,269,007 JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00237 NCBI chrNW_004936684:1,572,386...1,591,231 JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00237 NCBI chrNW_004936571:2,761,254...2,797,045 JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00237 NCBI chrNW_004936668:257,214...272,089 JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00237 NCBI chrNW_004936486:11,668,099...11,707,946 JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00237 NCBI chrNW_004936551:594,647...626,016 JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00237 NCBI chrNW_004936558:4,362,693...4,387,705 JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00237 NCBI chrNW_004936488:3,320,357...3,340,463 JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00237 NCBI chrNW_004936825:263,725...332,424 JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00237 NCBI chrNW_004936796:160,335...302,458 JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00237 NCBI chrNW_004936548:2,385,756...2,454,423 JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00237 NCBI chrNW_004936661:3,799,998...3,817,560 JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00237 NCBI chrNW_004936510:9,904,703...10,081,532 JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00237 NCBI chrNW_004936748:342,655...386,017 JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00237 NCBI chrNW_004936479:16,247,230...16,271,597 JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00237 NCBI chrNW_004936486:19,488,619...19,496,583 JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00237 NCBI chrNW_004936478:4,118,752...4,219,908 JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00237 NCBI chrNW_004936506:7,811,624...7,882,861 JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00237 NCBI chrNW_004936474:8,955,216...8,971,078 JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00237 NCBI chrNW_004936627:4,451,847...4,473,163 JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00237 NCBI chrNW_004936751:399,743...402,200 JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00237 NCBI chrNW_004936471:3,871,152...3,883,521 JBrowse link
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00237 NCBI chrNW_004936566:409,558...468,898 JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00237 NCBI chrNW_004936549:4,760,073...4,830,190 JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00237 NCBI chrNW_004936483:971,148...990,634 JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00237 NCBI chrNW_004936476:11,208,251...11,241,648 JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00237 NCBI chrNW_004936518:924,840...1,057,201 JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00237 NCBI chrNW_004936472:10,167,387...10,501,824 JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00237 NCBI chrNW_004936529:9,106,525...9,166,311 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_004936530:7,543,743...7,621,392 JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00139 NCBI chrNW_004936497:13,242,644...13,269,007 JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00139 NCBI chrNW_004936684:1,572,386...1,591,231 JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00139 NCBI chrNW_004936571:2,761,254...2,797,045 JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00139 NCBI chrNW_004936668:257,214...272,089 JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00139 NCBI chrNW_004936486:11,668,099...11,707,946 JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00139 NCBI chrNW_004936551:594,647...626,016 JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00139 NCBI chrNW_004936558:4,362,693...4,387,705 JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00139 NCBI chrNW_004936488:3,320,357...3,340,463 JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00139 NCBI chrNW_004936825:263,725...332,424 JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00139 NCBI chrNW_004936796:160,335...302,458 JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00139 NCBI chrNW_004936548:2,385,756...2,454,423 JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00139 NCBI chrNW_004936661:3,799,998...3,817,560 JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00139 NCBI chrNW_004936510:9,904,703...10,081,532 JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00139 NCBI chrNW_004936748:342,655...386,017 JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00139 NCBI chrNW_004936479:16,247,230...16,271,597 JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00139 NCBI chrNW_004936486:19,488,619...19,496,583 JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00139 NCBI chrNW_004936478:4,118,752...4,219,908 JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00139 NCBI chrNW_004936506:7,811,624...7,882,861 JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00139 NCBI chrNW_004936474:8,955,216...8,971,078 JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00139 NCBI chrNW_004936627:4,451,847...4,473,163 JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00139 NCBI chrNW_004936751:399,743...402,200 JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00139 NCBI chrNW_004936471:3,871,152...3,883,521 JBrowse link
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00139 NCBI chrNW_004936566:409,558...468,898 JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00139 NCBI chrNW_004936549:4,760,073...4,830,190 JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00139 NCBI chrNW_004936483:971,148...990,634 JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00139 NCBI chrNW_004936476:11,208,251...11,241,648 JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00139 NCBI chrNW_004936518:924,840...1,057,201 JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00139 NCBI chrNW_004936472:10,167,387...10,501,824 JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00139 NCBI chrNW_004936529:9,106,525...9,166,311 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_004936530:7,543,743...7,621,392 JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00140 NCBI chrNW_004936497:13,242,644...13,269,007 JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00140 NCBI chrNW_004936684:1,572,386...1,591,231 JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00140 NCBI chrNW_004936571:2,761,254...2,797,045 JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00140 NCBI chrNW_004936668:257,214...272,089 JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00140 NCBI chrNW_004936486:11,668,099...11,707,946 JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00140 NCBI chrNW_004936551:594,647...626,016 JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00140 NCBI chrNW_004936558:4,362,693...4,387,705 JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00140 NCBI chrNW_004936488:3,320,357...3,340,463 JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00140 NCBI chrNW_004936825:263,725...332,424 JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00140 NCBI chrNW_004936796:160,335...302,458 JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00140 NCBI chrNW_004936548:2,385,756...2,454,423 JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00140 NCBI chrNW_004936661:3,799,998...3,817,560 JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00140 NCBI chrNW_004936510:9,904,703...10,081,532 JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00140 NCBI chrNW_004936748:342,655...386,017 JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00140 NCBI chrNW_004936479:16,247,230...16,271,597 JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00140 NCBI chrNW_004936486:19,488,619...19,496,583 JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00140 NCBI chrNW_004936478:4,118,752...4,219,908 JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00140 NCBI chrNW_004936506:7,811,624...7,882,861 JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00140 NCBI chrNW_004936474:8,955,216...8,971,078 JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00140 NCBI chrNW_004936627:4,451,847...4,473,163 JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00140 NCBI chrNW_004936751:399,743...402,200 JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00140 NCBI chrNW_004936471:3,871,152...3,883,521 JBrowse link
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00140 NCBI chrNW_004936566:409,558...468,898 JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00140 NCBI chrNW_004936549:4,760,073...4,830,190 JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00140 NCBI chrNW_004936483:971,148...990,634 JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00140 NCBI chrNW_004936476:11,208,251...11,241,648 JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00140 NCBI chrNW_004936518:924,840...1,057,201 JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00140 NCBI chrNW_004936472:10,167,387...10,501,824 JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00140 NCBI chrNW_004936529:9,106,525...9,166,311 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_004936559:226,481...237,258 JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00344 NCBI chrNW_004936529:3,518,337...3,531,842 JBrowse link
G Blvra biliverdin reductase A ISO SMPDB SMP:00344 NCBI chrNW_004936478:18,811,452...18,850,594 JBrowse link
G Cpox coproporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chrNW_004936630:4,412,099...4,424,867 JBrowse link
G Fech ferrochelatase ISO SMPDB SMP:00344 NCBI chrNW_004936497:6,755,626...6,788,568 JBrowse link
G Ftmt ferritin mitochondrial ISO SMPDB SMP:00344 NCBI chrNW_004936575:2,077,732...2,078,445 JBrowse link
G Gusb glucuronidase beta ISO SMPDB SMP:00344 NCBI chrNW_004936543:7,721,273...7,732,468 JBrowse link
G Hmbs hydroxymethylbilane synthase ISO SMPDB SMP:00344 NCBI chrNW_004936542:4,037,888...4,046,089 JBrowse link
G Hmox1 heme oxygenase 1 ISO SMPDB SMP:00344 NCBI chrNW_004936492:5,042,353...5,049,216 JBrowse link
G LOC101959085 cytochrome c oxidase assembly protein COX15 homolog ISO SMPDB SMP:00344 NCBI chrNW_004936636:385,198...401,090 JBrowse link
G LOC101967907 protoheme IX farnesyltransferase, mitochondrial ISO SMPDB SMP:00344 NCBI chrNW_004936724:783,591...905,625 JBrowse link
G Ppox protoporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chrNW_004936903:470,317...474,705 JBrowse link
G Urod uroporphyrinogen decarboxylase ISO SMPDB SMP:00344 NCBI chrNW_004936474:26,207,169...26,210,599 JBrowse link
G Uros uroporphyrinogen III synthase ISO SMPDB SMP:00344 NCBI chrNW_004936486:13,792,354...13,816,744 JBrowse link
adenine phoshoribosyltransferase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00535 NCBI chrNW_004936481:18,274,158...18,330,136 JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00535 NCBI chrNW_004936492:1,423,780...1,440,825 JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00535 NCBI chrNW_004936526:6,342,233...6,380,736 JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00535 NCBI chrNW_004936487:15,507,663...15,517,401 JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00535 NCBI chrNW_004936627:33,350...57,231 JBrowse link
G Aprt adenine phosphoribosyltransferase ISO SMPDB SMP:00535 NCBI chrNW_004936641:913,674...916,312 JBrowse link
G Atad1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00535 NCBI chrNW_004936735:1,377,168...1,423,696 JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00535 NCBI chrNW_004936586:1,782,581...1,809,458 JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00535 NCBI chrNW_004936556:226,643...263,517 JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00535 NCBI chrNW_004936488:3,241,004...3,280,360 JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00535 NCBI chrNW_004936669:629,400...632,898 JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00535 NCBI chrNW_004936500:8,750,928...8,782,303 JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00535 NCBI chrNW_004936503:8,191,925...8,279,806 JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00535 NCBI chrNW_004936552:2,458,728...2,496,145 JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00535 NCBI chrNW_004936519:3,094,763...3,143,322 JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00535 NCBI chrNW_004936551:1,573,930...1,814,685 JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00535 NCBI chrNW_004936576:2,427,451...2,469,946 JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00535 NCBI chrNW_004936864:76,707...86,479 JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00535 NCBI chrNW_004936691:650,753...694,362 JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00535 NCBI chrNW_004936479:15,523,342...15,540,229 JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00535 NCBI chrNW_004936485:15,499,688...15,511,992 JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00535 NCBI chrNW_004936529:88,929...96,207 JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00535 NCBI chrNW_004936600:2,828,277...2,892,795 JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00535 NCBI chrNW_004936524:2,438,947...2,452,647 JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00535 NCBI chrNW_004936484:3,148,955...3,169,527 JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00535 NCBI chrNW_004936482:18,649,093...18,664,629 JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00535 NCBI chrNW_004936489:15,401,248...15,671,594 JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00535 NCBI chrNW_004936480:8,123,437...9,235,586 JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00535 NCBI chrNW_004936595:1,483,688...1,499,716 JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00535 NCBI chrNW_004936877:686,539...692,832 JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00535 NCBI chrNW_004936482:18,606,124...18,648,989 JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00535 NCBI chrNW_004936546:4,332,773...4,333,738 JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00535 NCBI chrNW_004936498:815,401...848,749 JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00535 NCBI chrNW_004936532:6,348,041...6,390,144 JBrowse link
G Txn thioredoxin ISO SMPDB SMP:00535 NCBI chrNW_004936559:2,811,786...2,822,528 JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00535 NCBI chrNW_004936493:1,762,814...1,824,501 JBrowse link
adenosine monophosphate deaminase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00537 NCBI chrNW_004936481:18,274,158...18,330,136 JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00537 NCBI chrNW_004936492:1,423,780...1,440,825 JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00537 NCBI chrNW_004936526:6,342,233...6,380,736 JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00537 NCBI chrNW_004936487:15,507,663...15,517,401 JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00537 NCBI chrNW_004936627:33,350...57,231 JBrowse link
G Aprt adenine phosphoribosyltransferase ISO SMPDB SMP:00537 NCBI chrNW_004936641:913,674...916,312 JBrowse link
G Atad1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00537 NCBI chrNW_004936735:1,377,168...1,423,696 JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00537 NCBI chrNW_004936586:1,782,581...1,809,458 JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00537 NCBI chrNW_004936556:226,643...263,517 JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00537 NCBI chrNW_004936488:3,241,004...3,280,360 JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00537 NCBI chrNW_004936669:629,400...632,898 JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00537 NCBI chrNW_004936500:8,750,928...8,782,303 JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00537 NCBI chrNW_004936503:8,191,925...8,279,806 JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00537 NCBI chrNW_004936552:2,458,728...2,496,145 JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00537 NCBI chrNW_004936519:3,094,763...3,143,322 JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00537 NCBI chrNW_004936551:1,573,930...1,814,685 JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00537 NCBI chrNW_004936576:2,427,451...2,469,946 JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00537 NCBI chrNW_004936864:76,707...86,479 JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00537 NCBI chrNW_004936691:650,753...694,362 JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00537 NCBI chrNW_004936479:15,523,342...15,540,229 JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00537 NCBI chrNW_004936485:15,499,688...15,511,992 JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00537 NCBI chrNW_004936529:88,929...96,207 JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00537 NCBI chrNW_004936600:2,828,277...2,892,795 JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00537 NCBI chrNW_004936524:2,438,947...2,452,647 JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00537 NCBI chrNW_004936484:3,148,955...3,169,527 JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00537 NCBI chrNW_004936482:18,649,093...18,664,629 JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00537 NCBI chrNW_004936489:15,401,248...15,671,594 JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00537 NCBI chrNW_004936480:8,123,437...9,235,586 JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00537 NCBI chrNW_004936595:1,483,688...1,499,716 JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00537 NCBI chrNW_004936877:686,539...692,832 JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00537 NCBI chrNW_004936482:18,606,124...18,648,989 JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00537 NCBI chrNW_004936546:4,332,773...4,333,738 JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00537 NCBI chrNW_004936498:815,401...848,749 JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00537 NCBI chrNW_004936532:6,348,041...6,390,144 JBrowse link
G Txn thioredoxin ISO SMPDB SMP:00537 NCBI chrNW_004936559:2,811,786...2,822,528 JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00537 NCBI chrNW_004936493:1,762,814...1,824,501 JBrowse link
adenylosuccinate lyase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00167 NCBI chrNW_004936481:18,274,158...18,330,136 JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00167 NCBI chrNW_004936492:1,423,780...1,440,825 JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00167 NCBI chrNW_004936526:6,342,233...6,380,736 JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00167 NCBI chrNW_004936487:15,507,663...15,517,401 JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00167 NCBI chrNW_004936627:33,350...57,231 JBrowse link
G Aprt adenine phosphoribosyltransferase ISO SMPDB SMP:00167 NCBI chrNW_004936641:913,674...916,312 JBrowse link
G Atad1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00167 NCBI chrNW_004936735:1,377,168...1,423,696 JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00167 NCBI chrNW_004936586:1,782,581...1,809,458 JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00167 NCBI chrNW_004936556:226,643...263,517 JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00167 NCBI chrNW_004936488:3,241,004...3,280,360 JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00167 NCBI chrNW_004936669:629,400...632,898 JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00167 NCBI chrNW_004936500:8,750,928...8,782,303 JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00167 NCBI chrNW_004936503:8,191,925...8,279,806 JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00167 NCBI chrNW_004936552:2,458,728...2,496,145 JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00167 NCBI chrNW_004936519:3,094,763...3,143,322 JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00167 NCBI chrNW_004936551:1,573,930...1,814,685 JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00167 NCBI chrNW_004936576:2,427,451...2,469,946 JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00167 NCBI chrNW_004936864:76,707...86,479 JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00167 NCBI chrNW_004936691:650,753...694,362 JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00167 NCBI chrNW_004936479:15,523,342...15,540,229 JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00167 NCBI chrNW_004936485:15,499,688...15,511,992 JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00167 NCBI chrNW_004936529:88,929...96,207 JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00167 NCBI chrNW_004936600:2,828,277...2,892,795 JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00167 NCBI chrNW_004936524:2,438,947...2,452,647 JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00167 NCBI chrNW_004936484:3,148,955...3,169,527 JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00167 NCBI chrNW_004936482:18,649,093...18,664,629 JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00167 NCBI chrNW_004936489:15,401,248...15,671,594 JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00167 NCBI chrNW_004936480:8,123,437...9,235,586 JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00167 NCBI chrNW_004936595:1,483,688...1,499,716 JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00167 NCBI chrNW_004936877:686,539...692,832 JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00167 NCBI chrNW_004936482:18,606,124...18,648,989 JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00167 NCBI chrNW_004936546:4,332,773...4,333,738 JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00167 NCBI chrNW_004936498:815,401...848,749 JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00167 NCBI chrNW_004936532:6,348,041...6,390,144 JBrowse link
G Txn thioredoxin ISO SMPDB SMP:00167 NCBI chrNW_004936559:2,811,786...2,822,528 JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00167 NCBI chrNW_004936493:1,762,814...1,824,501 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_004936809:615,133...634,618 JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00516 NCBI chrNW_004936607:1,292,964...1,345,671 JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00516 NCBI chrNW_004936554:4,425,518...4,484,853 JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00516 NCBI chrNW_004936522:7,858,172...7,875,679 JBrowse link
G Crat carnitine O-acetyltransferase ISO SMPDB SMP:00516 NCBI chrNW_004936487:16,523,571...16,537,242 JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00516 NCBI chrNW_004936763:1,425,394...1,462,638 JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00516 NCBI chrNW_004936588:4,574,220...4,580,195 JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00516 NCBI chrNW_004936491:6,530,385...6,559,706 JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00516 NCBI chrNW_004936623:4,313,186...4,462,462 JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO SMPDB SMP:00516 NCBI chrNW_004936529:607,035...631,872 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_004936474:5,217,601...5,246,718 JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00362, SMP:00507 NCBI chrNW_004936543:7,688,788...7,699,842 JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chrNW_004936487:17,482,307...17,527,407 JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00362, SMP:00507 NCBI chrNW_004936621:1,612,398...1,615,821 JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chrNW_004936586:5,739,038...5,850,317 JBrowse link
G Dao D-amino acid oxidase ISO SMPDB SMP:00362, SMP:00507 NCBI chrNW_004936769:744,862...758,086 JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chrNW_004936650:2,145,614...2,219,812 JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00362, SMP:00507 NCBI chrNW_004936588:721,436...724,475 JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00362, SMP:00507 NCBI chrNW_004936471:8,017,611...8,032,703 JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chrNW_004936636:617,376...640,424 JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chrNW_004936558:5,162,471...5,302,488 JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00362, SMP:00507 NCBI chrNW_004936486:12,723,363...12,743,367 JBrowse link
G Otc ornithine carbamoyltransferase ISO SMPDB SMP:00362, SMP:00507 NCBI chrNW_004936502:5,234,253...5,291,891 JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00362, SMP:00507 NCBI chrNW_004936498:3,313,572...3,346,888 JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00362, SMP:00507 NCBI chrNW_004936526:2,721,579...2,726,699 JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00362, SMP:00507 NCBI chrNW_004936510:4,281,847...4,343,271 JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00362, SMP:00507 NCBI chrNW_004936565:5,113,625...5,133,318 JBrowse link
AICA-ribosuria pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00168 NCBI chrNW_004936481:18,274,158...18,330,136 JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00168 NCBI chrNW_004936492:1,423,780...1,440,825 JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00168 NCBI chrNW_004936526:6,342,233...6,380,736 JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00168 NCBI chrNW_004936487:15,507,663...15,517,401 JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00168 NCBI chrNW_004936627:33,350...57,231 JBrowse link
G Aprt adenine phosphoribosyltransferase ISO SMPDB SMP:00168 NCBI chrNW_004936641:913,674...916,312 JBrowse link
G Atad1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00168 NCBI chrNW_004936735:1,377,168...1,423,696 JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00168 NCBI chrNW_004936586:1,782,581...1,809,458 JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00168 NCBI chrNW_004936556:226,643...263,517 JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00168 NCBI chrNW_004936488:3,241,004...3,280,360 JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00168 NCBI chrNW_004936669:629,400...632,898 JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00168 NCBI chrNW_004936500:8,750,928...8,782,303 JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00168 NCBI chrNW_004936503:8,191,925...8,279,806 JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00168 NCBI chrNW_004936552:2,458,728...2,496,145 JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00168 NCBI chrNW_004936519:3,094,763...3,143,322 JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00168 NCBI chrNW_004936551:1,573,930...1,814,685 JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00168 NCBI chrNW_004936576:2,427,451...2,469,946 JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00168 NCBI chrNW_004936864:76,707...86,479 JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00168 NCBI chrNW_004936691:650,753...694,362 JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00168 NCBI chrNW_004936479:15,523,342...15,540,229 JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00168 NCBI chrNW_004936485:15,499,688...15,511,992 JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00168 NCBI chrNW_004936529:88,929...96,207 JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00168 NCBI chrNW_004936600:2,828,277...2,892,795 JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00168 NCBI chrNW_004936524:2,438,947...2,452,647 JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00168 NCBI chrNW_004936484:3,148,955...3,169,527 JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00168 NCBI chrNW_004936482:18,649,093...18,664,629 JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00168 NCBI chrNW_004936489:15,401,248...15,671,594 JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00168 NCBI chrNW_004936480:8,123,437...9,235,586 JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00168 NCBI chrNW_004936595:1,483,688...1,499,716 JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00168 NCBI chrNW_004936877:686,539...692,832 JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00168 NCBI chrNW_004936482:18,606,124...18,648,989 JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00168 NCBI chrNW_004936546:4,332,773...4,333,738 JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00168 NCBI chrNW_004936498:815,401...848,749 JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00168 NCBI chrNW_004936532:6,348,041...6,390,144 JBrowse link
G Txn thioredoxin ISO SMPDB SMP:00168 NCBI chrNW_004936559:2,811,786...2,822,528 JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00168 NCBI chrNW_004936493:1,762,814...1,824,501 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_004936485:8,857,688...8,894,270 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_004936881:71,047...77,543 JBrowse link
G Aoc1 amine oxidase copper containing 1 ISO SMPDB SMP:00169 NCBI chrNW_004936527:6,309,210...6,312,869 JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00169 NCBI chrNW_004936619:3,847,059...3,883,866 JBrowse link
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00169 NCBI chrNW_004936669:3,302,014...3,326,233 JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00169 NCBI chrNW_004936472:15,074,947...15,110,427 JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00169 NCBI chrNW_004936686:1,322,153...1,405,434 JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00169 NCBI chrNW_004936471:38,140,324...38,174,472 JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00169 NCBI chrNW_004936636:617,376...640,424 JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00169 NCBI chrNW_004936488:6,141,913...6,153,591 JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00169 NCBI chrNW_004936508:8,971,516...8,987,235 JBrowse link
G Hgd homogentisate 1,2-dioxygenase ISO SMPDB SMP:00169 NCBI chrNW_004936536:7,314,548...7,359,426 JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00169 NCBI chrNW_004936502:9,816,443...9,888,002 JBrowse link
G Mif macrophage migration inhibitory factor ISO SMPDB SMP:00169 NCBI chrNW_004936619:1,207,058...1,208,010 JBrowse link
G Pnmt phenylethanolamine N-methyltransferase ISO SMPDB SMP:00169 NCBI chrNW_004936490:14,858,682...14,861,614 JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00169 NCBI chrNW_004936475:22,190,282...22,199,398 JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00169 NCBI chrNW_004936736:421,623...519,085 JBrowse link
Alzheimer's disease pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin ISO RGD PMID:9697696 RGD:1302534 NCBI chrNW_004936870:424,832...468,303 JBrowse link
G Psen2 presenilin 2 ISO DNA:missense mutation:cds:p.N141I (human) RGD PMID:10976645 RGD:9743900 NCBI chrNW_004936526:3,584,194...3,611,719 JBrowse link
G Ube2d3 ubiquitin conjugating enzyme E2 D3 ISO RGD PMID:11020223 RGD:1302873 NCBI chrNW_004936520:555,878...588,052 JBrowse link
G Ube2d4 ubiquitin conjugating enzyme E2 D4 (putative) ISO RGD PMID:11020223 RGD:1302873 NCBI chrNW_004936478:18,981,457...19,003,924 JBrowse link
G Ube2g1 ubiquitin conjugating enzyme E2 G1 ISO RGD PMID:11020223 RGD:1302873 NCBI chrNW_004936615:4,813,101...4,816,554 JBrowse link
G Ube2i ubiquitin conjugating enzyme E2 I ISO RGD PMID:11020223 RGD:1302873 NCBI chrNW_004936694:2,561,701...2,571,284 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_004936533:2,779,650...2,918,640 JBrowse link
G Sod1 superoxide dismutase 1 ISO RGD PMID:8446170, PMID:16583367 RGD:1581209, RGD:737689 NCBI chrNW_004936500:10,345,154...10,352,873 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_004936592:2,486,219...2,522,796 JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00717 NCBI chrNW_004936557:3,358,809...3,403,461 JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00717 NCBI chrNW_004936475:17,882,663...17,888,708 JBrowse link
G LOC101970767 steroid 17-alpha-hydroxylase/17,20 lyase ISO SMPDB SMP:00717 NCBI chrNW_004936600:3,097,620...3,102,713 JBrowse link
G LOC101975820 cholesterol side-chain cleavage enzyme, mitochondrial ISO SMPDB SMP:00717 NCBI chrNW_004936471:33,367,810...33,380,764 JBrowse link
G LOC101977414 steroid 21-hydroxylase ISO SMPDB SMP:00717 NCBI chrNW_004936727:1,550,783...1,553,327 JBrowse link
argininosuccinic aciduria pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asl argininosuccinate lyase ISO SMPDB SMP:00003 NCBI chrNW_004936543:7,688,788...7,699,842 JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00003 NCBI chrNW_004936487:17,482,307...17,527,407 JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00003 NCBI chrNW_004936586:5,739,038...5,850,317 JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00003 NCBI chrNW_004936646:825,957...842,184 JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00003 NCBI chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00003 NCBI chrNW_004936475:10,438,715...10,462,915 JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00003 NCBI chrNW_004936470:7,765,810...7,770,837 JBrowse link
G Otc ornithine carbamoyltransferase ISO SMPDB SMP:00003 NCBI chrNW_004936502:5,234,253...5,291,891 JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00003 NCBI chrNW_004936491:9,761,002...9,790,535 JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00003 NCBI chrNW_004936664:599,012...610,689 JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00003 NCBI chrNW_004936509:1,994,082...2,077,731 JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00003 NCBI chrNW_004936565:5,113,625...5,133,318 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_004936669:3,302,014...3,326,233 JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00170 NCBI chrNW_004936686:1,322,153...1,405,434 JBrowse link
G Pnmt phenylethanolamine N-methyltransferase ISO SMPDB SMP:00170 NCBI chrNW_004936490:14,858,682...14,861,614 JBrowse link
G Th tyrosine hydroxylase ISO SMPDB SMP:00170 NCBI chrNW_004936794:478,651...486,887 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_004936677:3,232,183...3,241,307 JBrowse link
G Ldlr low density lipoprotein receptor ISO RGD PMID:12969990 RGD:1581826 NCBI chrNW_004936659:1,259,405...1,300,545 JBrowse link
G Lmna lamin A/C ISO RGD PMID:15205220 RGD:1580530 NCBI chrNW_004936580:5,374,208...5,395,442 JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:15662225 RGD:1582524 NCBI chrNW_004936551:5,167,909...5,175,149 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_004936503:497,391...517,011 JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00172 NCBI chrNW_004936493:5,308,268...5,332,934 JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00172 NCBI chrNW_004936594:3,318,460...3,325,677 JBrowse link
G Cda cytidine deaminase ISO SMPDB SMP:00172 NCBI chrNW_004936474:6,543,295...6,564,575 JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00172 NCBI chrNW_004936532:3,896,654...3,908,184 JBrowse link
G Ctps1 CTP synthase 1 ISO SMPDB SMP:00172 NCBI chrNW_004936474:22,611,037...22,633,208 JBrowse link
G Dctd dCMP deaminase ISO SMPDB SMP:00172 NCBI chrNW_004936554:6,088,544...6,110,274 JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00172 NCBI chrNW_004936475:21,863,627...21,877,660 JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00172 NCBI chrNW_004936537:1,660,461...2,439,305 JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00172 NCBI chrNW_004936470:39,564,431...39,637,394 JBrowse link
G Dut deoxyuridine triphosphatase ISO SMPDB SMP:00172 NCBI chrNW_004936471:10,670,604...10,681,356 JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00172 NCBI chrNW_004936503:8,191,925...8,279,806 JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00172 NCBI chrNW_004936485:15,499,688...15,511,992 JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00172 NCBI chrNW_004936529:88,929...96,207 JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00172 NCBI chrNW_004936600:2,828,277...2,892,795 JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00172 NCBI chrNW_004936532:6,348,041...6,390,144 JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00172 NCBI chrNW_004936470:41,354,387...41,401,308 JBrowse link
G Tk1 thymidine kinase 1 ISO SMPDB SMP:00172 NCBI chrNW_004936594:2,784,891...2,794,693 JBrowse link
G Tymp thymidine phosphorylase ISO SMPDB SMP:00172 NCBI chrNW_004936629:315,609...320,356 JBrowse link
G Tyms thymidylate synthetase ISO SMPDB SMP:00172 NCBI chrNW_004936550:33,797...42,233 JBrowse link
G Uckl1 uridine-cytidine kinase 1 like 1 ISO SMPDB SMP:00172 NCBI chrNW_004936514:11,144,641...11,156,470 JBrowse link
G Umps uridine monophosphate synthetase ISO SMPDB SMP:00172 NCBI chrNW_004936725:553,278...564,846 JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00172 NCBI chrNW_004936619:668,380...713,720 JBrowse link
G Upp2 uridine phosphorylase 2 ISO SMPDB SMP:00172 NCBI chrNW_004936469:20,465,767...20,513,084 JBrowse link
biotinidase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hlcs holocarboxylase synthetase ISO SMPDB SMP:00174 NCBI chrNW_004936500:5,827,213...5,976,457 JBrowse link
G LOC101961662 biotinidase ISO SMPDB SMP:00174 NCBI chrNW_004936473:2,787,386...2,823,014 JBrowse link
G Spcs1 signal peptidase complex subunit 1 ISO SMPDB SMP:00174 NCBI chrNW_004936473:3,495,964...3,497,573 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_004936501:60,812...63,149 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_004936596:5,265,984...5,301,430 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_004936530:7,543,743...7,621,392 JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00175 NCBI chrNW_004936492:1,423,780...1,440,825 JBrowse link
G Adss1 adenylosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chrNW_004936621:655,004...667,608 JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00175 NCBI chrNW_004936543:7,688,788...7,699,842 JBrowse link
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO SMPDB SMP:00175 NCBI chrNW_004936585:2,834,202...2,854,740 JBrowse link
G Aspa aspartoacylase ISO SMPDB SMP:00175 NCBI chrNW_004936677:219,459...232,545 JBrowse link
G Asrgl1 asparaginase and isoaspartyl peptidase 1 ISO SMPDB SMP:00175 NCBI chrNW_004936581:823,665...847,579 JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chrNW_004936487:17,482,307...17,527,407 JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00175 NCBI chrNW_004936493:5,308,268...5,332,934 JBrowse link
G Dars1 aspartyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chrNW_004936469:39,921,182...39,979,297 JBrowse link
G Ddo D-aspartate oxidase ISO SMPDB SMP:00175 NCBI chrNW_004936564:6,280,890...6,299,838 JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00175 NCBI chrNW_004936509:1,160,559...1,201,037 JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00175 NCBI chrNW_004936664:3,674,612...3,715,036 JBrowse link
G Nars1 asparaginyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chrNW_004936497:6,727,676...6,745,187 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 Asl argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chrNW_004936543:7,688,788...7,699,842 JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chrNW_004936487:17,482,307...17,527,407 JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chrNW_004936586:5,739,038...5,850,317 JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chrNW_004936646:825,957...842,184 JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chrNW_004936475:10,438,715...10,462,915 JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00002 NCBI chrNW_004936470:7,765,810...7,770,837 JBrowse link
G Otc ornithine carbamoyltransferase ISO SMPDB SMP:00002 NCBI chrNW_004936502:5,234,253...5,291,891 JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chrNW_004936491:9,761,002...9,790,535 JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chrNW_004936664:599,012...610,689 JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chrNW_004936509:1,994,082...2,077,731 JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chrNW_004936565:5,113,625...5,133,318 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_004936531:9,572,392...9,575,771 JBrowse link
G Igf1 insulin like growth factor 1 ISO RGD PMID:15996002 RGD:1580474 NCBI chrNW_004936492:11,709,623...11,784,028 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_004936497:13,242,644...13,269,007 JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00538 NCBI chrNW_004936845:66,674...96,248 JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00538 NCBI chrNW_004936571:2,761,254...2,797,045 JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00538 NCBI chrNW_004936668:257,214...272,089 JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00538 NCBI chrNW_004936486:11,668,099...11,707,946 JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00538 NCBI chrNW_004936595:514,883...520,223 JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00538 NCBI chrNW_004936551:594,647...626,016 JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00538 NCBI chrNW_004936554:4,425,518...4,484,853 JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00538 NCBI chrNW_004936599:1,491,934...1,535,101 JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00538 NCBI chrNW_004936522:7,858,172...7,875,679 JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00538 NCBI chrNW_004936486:19,488,619...19,496,583 JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00538 NCBI chrNW_004936659:1,955,601...1,961,925 JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00538 NCBI chrNW_004936493:6,182,786...6,224,601 JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00538 NCBI chrNW_004936493:6,139,717...6,182,792 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_004936809:615,133...634,618 JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00517 NCBI chrNW_004936607:1,292,964...1,345,671 JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00517 NCBI chrNW_004936554:4,425,518...4,484,853 JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chrNW_004936522:7,858,172...7,875,679 JBrowse link
G Crat carnitine O-acetyltransferase ISO SMPDB SMP:00517 NCBI chrNW_004936487:16,523,571...16,537,242 JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chrNW_004936763:1,425,394...1,462,638 JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chrNW_004936588:4,574,220...4,580,195 JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chrNW_004936491:6,530,385...6,559,706 JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00517 NCBI chrNW_004936623:4,313,186...4,462,462 JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO SMPDB SMP:00517 NCBI chrNW_004936529:607,035...631,872 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_004936530:7,543,743...7,621,392 JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00493 NCBI chrNW_004936558:4,362,693...4,387,705 JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00493 NCBI chrNW_004936488:3,320,357...3,340,463 JBrowse link
G Aoc3 amine oxidase copper containing 3 ISO SMPDB SMP:00493 NCBI chrNW_004936490:17,549,836...17,564,867 JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO SMPDB SMP:00493 NCBI chrNW_004936616:3,955,847...3,984,021 JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00493 NCBI chrNW_004936537:1,660,461...2,439,305 JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00493 NCBI chrNW_004936470:39,564,431...39,637,394 JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00493 NCBI chrNW_004936509:1,160,559...1,201,037 JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00493 NCBI chrNW_004936619:668,380...713,720 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_004936473:2,494,568...2,525,956 JBrowse link
G Akr1d1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00315 NCBI chrNW_004936592:2,486,219...2,522,796 JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00315 NCBI chrNW_004936518:7,072,436...7,088,927 JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004936601:5,015,922...5,016,942 JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00315 NCBI chrNW_004936715:2,357,215...2,446,601 JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00315 NCBI chrNW_004936501:13,363,630...13,367,553 JBrowse link
G LOC101955077 25-hydroxycholesterol 7-alpha-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004936496:8,900,320...9,072,109 JBrowse link
G LOC101961079 cholesterol 24-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004936604:3,451,853...3,490,688 JBrowse link
G LOC101963150 sterol 26-hydroxylase, mitochondrial ISO SMPDB SMP:00315 NCBI chrNW_004936569:1,213,700...1,250,181 JBrowse link
G LOC101970910 cholesterol 7-alpha-monooxygenase ISO SMPDB SMP:00315 NCBI chrNW_004936496:4,599,138...4,605,653 JBrowse link
G LOC101972335 24-hydroxycholesterol 7-alpha-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004936476:13,697,598...13,819,362 JBrowse link
G LOC101977223 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004936695:2,263,868...2,265,373 JBrowse link
G Scp2 sterol carrier protein 2 ISO SMPDB SMP:00315 NCBI chrNW_004936522:8,004,503...8,110,995 JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00315 NCBI chrNW_004937062:90,217...98,562 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_004936489:11,255,871...11,273,848 JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00508 NCBI chrNW_004936522:6,423,561...6,447,363 JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00508 NCBI chrNW_004936721:508,716...515,968 JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00508 NCBI chrNW_004936628:3,599,435...3,600,061 JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00508 NCBI chrNW_004936580:4,799,354...4,808,406 JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00508 NCBI chrNW_004936484:17,104,437...17,115,897 JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00508 NCBI chrNW_004936549:1,378,536...1,400,501 JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00508 NCBI chrNW_004936480:18,862,288...18,882,614 JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00508 NCBI chrNW_004936831:951,603...976,159 JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00508 NCBI chrNW_004936484:13,054,155...13,061,935 JBrowse link
G LOC101955024 lanosterol 14-alpha demethylase ISO SMPDB SMP:00508 NCBI chrNW_004936621:2,209,255...2,232,404 JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00508 NCBI chrNW_004936778:323,120...351,100 JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00508 NCBI chrNW_004936555:664,171...678,082 JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00508 NCBI chrNW_004936641:1,030,465...1,035,967 JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00508 NCBI chrNW_004936769:1,274,595...1,295,186 JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00508 NCBI chrNW_004936714:246,574...273,930 JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00508 NCBI chrNW_004936580:4,473,554...4,482,396 JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00508 NCBI chrNW_004936542:6,046,425...6,062,825 JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00508 NCBI chrNW_004936481:9,614,605...9,669,705 JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00508 NCBI chrNW_004936470:22,726,793...22,752,429 JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00508 NCBI chrNW_004936599:4,253,725...4,258,198 JBrowse link
citrullinemia pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asl argininosuccinate lyase ISO SMPDB SMP:00001 NCBI chrNW_004936543:7,688,788...7,699,842 JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00001 NCBI chrNW_004936487:17,482,307...17,527,407 JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00001 NCBI chrNW_004936586:5,739,038...5,850,317 JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00001 NCBI chrNW_004936646:825,957...842,184 JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00001 NCBI chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00001 NCBI chrNW_004936475:10,438,715...10,462,915 JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00001 NCBI chrNW_004936470:7,765,810...7,770,837 JBrowse link
G Otc ornithine carbamoyltransferase ISO SMPDB SMP:00001 NCBI chrNW_004936502:5,234,253...5,291,891 JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00001 NCBI chrNW_004936491:9,761,002...9,790,535 JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00001 NCBI chrNW_004936664:599,012...610,689 JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00001 NCBI chrNW_004936509:1,994,082...2,077,731 JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00001 NCBI chrNW_004936565:5,113,625...5,133,318 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_004936531:6,899,580...7,019,016 JBrowse link
G Axin1 axin 1 ISO RGD PMID:18432252 RGD:2293188 NCBI chrNW_004936501:599,963...633,837 JBrowse link
G Axin2 axin 2 ISO RGD PMID:18432252 RGD:2293188 NCBI chrNW_004936541:7,155,963...7,242,466 JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO RGD PMID:18098337 RGD:2298531 NCBI chrNW_004936592:4,728,371...4,833,830 JBrowse link
G Ctnnb1 catenin beta 1 ISO RGD PMID:18432252 RGD:2293188 NCBI chrNW_004936473:29,999,542...30,034,610 JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO RGD PMID:16112461 RGD:2306732 NCBI chrNW_004936548:2,078,568...2,113,877 JBrowse link
G Mlh1 mutL homolog 1 ISO RGD PMID:11900875 RGD:2306714 NCBI chrNW_004936473:26,556,636...26,600,830 JBrowse link
G Msh2 mutS homolog 2 ISO RGD PMID:11900875 RGD:2306714 NCBI chrNW_004936508:4,943,987...5,013,356 JBrowse link
G Msh6 mutS homolog 6 ISO RGD PMID:11900875 RGD:2306714 NCBI chrNW_004936508:4,708,661...4,728,671 JBrowse link
G Pms1 PMS1 homolog 1, mismatch repair system component ISO RGD PMID:11900875 RGD:2306714 NCBI chrNW_004936506:8,118,816...8,197,040 JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO RGD PMID:11900875 RGD:2306714 NCBI chrNW_004936750:439,396...468,747 JBrowse link
G Smad2 SMAD family member 2 ISO RGD PMID:17613544, PMID:18662538 RGD:2306282, RGD:2308865 NCBI chrNW_004936497:14,723,199...14,812,160 JBrowse link
G Smad3 SMAD family member 3 ISO RGD PMID:17613544 RGD:2306282 NCBI chrNW_004936471:27,080,662...27,185,861 JBrowse link
G Smad4 SMAD family member 4 ISO RGD PMID:17613544, PMID:18662538 RGD:2306282, RGD:2308865 NCBI chrNW_004936497:12,242,869...12,278,012 JBrowse link
G Smad7 SMAD family member 7 ISO RGD PMID:18662538 RGD:2308865 NCBI chrNW_004936497:13,894,586...13,921,978 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO RGD PMID:17613544 RGD:2306282 NCBI chrNW_004936661:3,742,080...3,758,266 JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO RGD PMID:17613544 RGD:2306282 NCBI chrNW_004936524:7,656,523...7,680,043 JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO RGD PMID:17613544, PMID:18662538 RGD:2306282, RGD:2308865 NCBI chrNW_004936473:21,324,669...21,409,430 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_004936473:2,494,568...2,525,956 JBrowse link
G Akr1d1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00314, SMP:00318 NCBI chrNW_004936592:2,486,219...2,522,796 JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00314, SMP:00318 NCBI chrNW_004936518:7,072,436...7,088,927 JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00314, SMP:00318 NCBI chrNW_004936601:5,015,922...5,016,942 JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00314, SMP:00318 NCBI chrNW_004936715:2,357,215...2,446,601 JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00314, SMP:00318 NCBI chrNW_004936501:13,363,630...13,367,553 JBrowse link
G LOC101955077 25-hydroxycholesterol 7-alpha-hydroxylase ISO SMPDB SMP:00314, SMP:00318 NCBI chrNW_004936496:8,900,320...9,072,109 JBrowse link
G LOC101961079 cholesterol 24-hydroxylase ISO SMPDB SMP:00314, SMP:00318 NCBI chrNW_004936604:3,451,853...3,490,688 JBrowse link
G LOC101963150 sterol 26-hydroxylase, mitochondrial ISO SMPDB SMP:00314, SMP:00318 NCBI chrNW_004936569:1,213,700...1,250,181 JBrowse link
G LOC101970910 cholesterol 7-alpha-monooxygenase ISO SMPDB SMP:00314, SMP:00318 NCBI chrNW_004936496:4,599,138...4,605,653 JBrowse link
G LOC101972335 24-hydroxycholesterol 7-alpha-hydroxylase ISO SMPDB SMP:00314, SMP:00318 NCBI chrNW_004936476:13,697,598...13,819,362 JBrowse link
G LOC101977223 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase ISO SMPDB SMP:00314, SMP:00318 NCBI chrNW_004936695:2,263,868...2,265,373 JBrowse link
G Scp2 sterol carrier protein 2 ISO SMPDB SMP:00314, SMP:00318 NCBI chrNW_004936522:8,004,503...8,110,995 JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00314, SMP:00318 NCBI chrNW_004937062:90,217...98,562 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_004936489:11,255,871...11,273,848 JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00387 NCBI chrNW_004936522:6,423,561...6,447,363 JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00387 NCBI chrNW_004936721:508,716...515,968 JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00387 NCBI chrNW_004936628:3,599,435...3,600,061 JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00387 NCBI chrNW_004936580:4,799,354...4,808,406 JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00387 NCBI chrNW_004936484:17,104,437...17,115,897 JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00387 NCBI chrNW_004936549:1,378,536...1,400,501 JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00387 NCBI chrNW_004936480:18,862,288...18,882,614 JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00387 NCBI chrNW_004936831:951,603...976,159 JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00387 NCBI chrNW_004936484:13,054,155...13,061,935 JBrowse link
G LOC101955024 lanosterol 14-alpha demethylase ISO SMPDB SMP:00387 NCBI chrNW_004936621:2,209,255...2,232,404 JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00387 NCBI chrNW_004936778:323,120...351,100 JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00387 NCBI chrNW_004936555:664,171...678,082 JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00387 NCBI chrNW_004936641:1,030,465...1,035,967 JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00387 NCBI chrNW_004936769:1,274,595...1,295,186 JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00387 NCBI chrNW_004936714:246,574...273,930 JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00387 NCBI chrNW_004936580:4,473,554...4,482,396 JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00387 NCBI chrNW_004936542:6,046,425...6,062,825 JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00387 NCBI chrNW_004936481:9,614,605...9,669,705 JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00387 NCBI chrNW_004936470:22,726,793...22,752,429 JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00387 NCBI chrNW_004936599:4,253,725...4,258,198 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_004937224:23,225...32,639 JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00557 NCBI chrNW_004936505:2,077,206...2,242,079 JBrowse link
G Gck glucokinase ISO SMPDB SMP:00557 NCBI chrNW_004936478:19,104,477...19,118,915 JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00557 NCBI chrNW_004936570:1,582,120...1,608,537 JBrowse link
G Gusb glucuronidase beta ISO SMPDB SMP:00557 NCBI chrNW_004936543:7,721,273...7,732,468 JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00557 NCBI chrNW_004936548:5,256,185...5,309,758 JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00557 NCBI chrNW_004936556:1,054,143...1,113,425 JBrowse link
G Mgam maltase-glucoamylase ISO SMPDB SMP:00557 NCBI chrNW_004936592:5,778,487...5,841,770 JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00557 NCBI chrNW_004936692:1,160,836...1,221,270 JBrowse link
G Pgm2l1 phosphoglucomutase 2 like 1 ISO SMPDB SMP:00557 NCBI chrNW_004936498:3,369,347...3,426,938 JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00557 NCBI chrNW_004936495:14,692,688...14,728,663 JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00557 NCBI chrNW_004936707:1,153,538...1,228,220 JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00557 NCBI chrNW_004936482:7,090,241...7,118,315 JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00557 NCBI chrNW_004936491:8,773,910...8,834,984 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_004936500:976,043...1,003,559 JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00514 NCBI chrNW_004936591:1,619,446...1,643,667 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_004936478:7,146,997...7,160,369 JBrowse link
G Aqp2 aquaporin 2 ISO SMPDB SMP:00723 NCBI chrNW_004936512:7,628,677...7,633,344 JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO SMPDB SMP:00723 NCBI chrNW_004936524:1,963,427...1,969,977 JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00723 NCBI chrNW_004936627:1,555,151...1,584,370 JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00723 NCBI chrNW_004936706:476,473...494,659 JBrowse link
G Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 ISO SMPDB SMP:00723 NCBI chrNW_004936740:445,952...478,580 JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00723 NCBI chrNW_004936481:17,438,146...17,460,329 JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00723 NCBI chrNW_004936595:908,019...914,426 JBrowse link
G Atp1b3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00723 NCBI chrNW_004936540:3,621,656...3,640,885 JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00723 NCBI chrNW_004936479:9,648,315...9,666,782 JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO SMPDB SMP:00723 NCBI chrNW_004936474:3,591,134...3,601,562 JBrowse link
G Fxyd2 FXYD domain containing ion transport regulator 2 ISO SMPDB SMP:00723 NCBI chrNW_004936542:2,956,784...2,961,076 JBrowse link
G LOC101966570 sodium/potassium-transporting ATPase subunit alpha-2 ISO SMPDB SMP:00723 NCBI chrNW_004936740:489,357...514,235 JBrowse link
G Nr3c2 nuclear receptor subfamily 3 group C member 2 ISO SMPDB SMP:00723 NCBI chrNW_004936535:1,139,687...1,467,469 JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00723 NCBI chrNW_004936709:1,377,852...1,403,398 JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00723 NCBI chrNW_004936501:8,021,090...8,065,245 JBrowse link
G Scnn1d sodium channel epithelial 1 subunit delta ISO SMPDB SMP:00723 NCBI chrNW_004936737:1,851,185...1,854,923 JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00723 NCBI chrNW_004936501:7,932,729...7,958,146 JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO SMPDB SMP:00723 NCBI chrNW_004936471:10,564,530...10,648,124 JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO SMPDB SMP:00723 NCBI chrNW_004936475:9,044,099...9,076,301 JBrowse link
G Slc12a6 solute carrier family 12 member 6 ISO SMPDB SMP:00723 NCBI chrNW_004936673:2,731,454...2,825,179 JBrowse link
G Slc14a2 solute carrier family 14 member 2 ISO SMPDB SMP:00723 NCBI chrNW_004936517:1,060,311...1,104,775 JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO SMPDB SMP:00723 NCBI chrNW_004936503:613,250...690,555 JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO SMPDB SMP:00723 NCBI chrNW_004936489:11,605,403...11,627,786 JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO SMPDB SMP:00723 NCBI chrNW_004936581:348,719...356,246 JBrowse link
G Slc38a4 solute carrier family 38 member 4 ISO SMPDB SMP:00723 NCBI chrNW_004936512:4,867,276...4,929,175 JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO SMPDB SMP:00723 NCBI chrNW_004936508:7,672,274...7,703,962 JBrowse link
G Slc3a2 solute carrier family 3 member 2 ISO SMPDB SMP:00723 NCBI chrNW_004936581:424,801...441,592 JBrowse link
G Slc6a20 solute carrier family 6 member 20 ISO SMPDB SMP:00723 NCBI chrNW_004936695:146,571...193,428 JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO SMPDB SMP:00723 NCBI chrNW_004936641:1,513,110...1,538,955 JBrowse link
G Slc7a6 solute carrier family 7 member 6 ISO SMPDB SMP:00723 NCBI chrNW_004936475:18,587,058...18,624,757 JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO SMPDB SMP:00723 NCBI chrNW_004936722:1,464,252...1,523,786 JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO SMPDB SMP:00723 NCBI chrNW_004936722:1,143,405...1,202,407 JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO SMPDB SMP:00723 NCBI chrNW_004936570:2,917,389...2,944,452 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_004936727:1,425,784...1,434,921 JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00529 NCBI chrNW_004936579:1,312,175...1,328,397 JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00529 NCBI chrNW_004936881:71,047...77,543 JBrowse link
G Dgka diacylglycerol kinase alpha ISO SMPDB SMP:00529 NCBI chrNW_004936646:351,589...367,985 JBrowse link
G Gk glycerol kinase ISO SMPDB SMP:00529 NCBI chrNW_004936553:6,707,148...6,787,245 JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00529 NCBI chrNW_004936529:3,627,194...3,635,568 JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00529 NCBI chrNW_004936486:2,754,753...2,823,600 JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00529 NCBI chrNW_004936512:7,762,325...7,770,007 JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00529 NCBI chrNW_004936469:21,705,421...21,833,143 JBrowse link
G Lipc lipase C, hepatic type ISO SMPDB SMP:00529 NCBI chrNW_004936471:19,604,083...19,733,721 JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00529 NCBI chrNW_004936555:4,084,099...4,108,219 JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00529 NCBI chrNW_004936480:12,265,304...12,357,747 JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00529 NCBI chrNW_004936588:14,422...20,467 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_004936489:11,255,871...11,273,848 JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00386 NCBI chrNW_004936522:6,423,561...6,447,363 JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00386 NCBI chrNW_004936721:508,716...515,968 JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936628:3,599,435...3,600,061 JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00386 NCBI chrNW_004936580:4,799,354...4,808,406 JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936484:17,104,437...17,115,897 JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00386 NCBI chrNW_004936549:1,378,536...1,400,501 JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936480:18,862,288...18,882,614 JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00386 NCBI chrNW_004936831:951,603...976,159 JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936484:13,054,155...13,061,935 JBrowse link
G LOC101955024 lanosterol 14-alpha demethylase ISO SMPDB SMP:00386 NCBI chrNW_004936621:2,209,255...2,232,404 JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00386 NCBI chrNW_004936778:323,120...351,100 JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936555:664,171...678,082 JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00386 NCBI chrNW_004936641:1,030,465...1,035,967 JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00386 NCBI chrNW_004936769:1,274,595...1,295,186 JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00386 NCBI chrNW_004936714:246,574...273,930 JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00386 NCBI chrNW_004936580:4,473,554...4,482,396 JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00386 NCBI chrNW_004936542:6,046,425...6,062,825 JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936481:9,614,605...9,669,705 JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00386 NCBI chrNW_004936470:22,726,793...22,752,429 JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00386 NCBI chrNW_004936599:4,253,725...4,258,198 JBrowse link
diabetes mellitus pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO RGD PMID:18025464 RGD:2301904 NCBI chrNW_004936528:1,608,782...1,682,873 JBrowse link
diabetic nephropathy pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16528250 RGD:1581322 NCBI chrNW_004936905:148,956...156,023 JBrowse link
dihydropyrimidinase 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:00178 NCBI chrNW_004936503:497,391...517,011 JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00178 NCBI chrNW_004936493:5,308,268...5,332,934 JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00178 NCBI chrNW_004936594:3,318,460...3,325,677 JBrowse link
G Cda cytidine deaminase ISO SMPDB SMP:00178 NCBI chrNW_004936474:6,543,295...6,564,575 JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00178 NCBI chrNW_004936532:3,896,654...3,908,184 JBrowse link
G Ctps1 CTP synthase 1 ISO SMPDB SMP:00178 NCBI chrNW_004936474:22,611,037...22,633,208 JBrowse link
G Dctd dCMP deaminase ISO SMPDB SMP:00178 NCBI chrNW_004936554:6,088,544...6,110,274 JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00178 NCBI chrNW_004936475:21,863,627...21,877,660 JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00178 NCBI chrNW_004936537:1,660,461...2,439,305 JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00178 NCBI chrNW_004936470:39,564,431...39,637,394 JBrowse link
G Dut deoxyuridine triphosphatase ISO SMPDB SMP:00178 NCBI chrNW_004936471:10,670,604...10,681,356 JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00178 NCBI chrNW_004936503:8,191,925...8,279,806 JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00178 NCBI chrNW_004936485:15,499,688...15,511,992 JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00178 NCBI chrNW_004936529:88,929...96,207 JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00178 NCBI chrNW_004936600:2,828,277...2,892,795 JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00178 NCBI chrNW_004936532:6,348,041...6,390,144 JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00178 NCBI chrNW_004936470:41,354,387...41,401,308 JBrowse link
G Tk1 thymidine kinase 1 ISO SMPDB SMP:00178 NCBI chrNW_004936594:2,784,891...2,794,693 JBrowse link
G Tymp thymidine phosphorylase ISO SMPDB SMP:00178 NCBI chrNW_004936629:315,609...320,356 JBrowse link
G Tyms thymidylate synthetase ISO SMPDB SMP:00178 NCBI chrNW_004936550:33,797...42,233 JBrowse link
G Uckl1 uridine-cytidine kinase 1 like 1 ISO SMPDB SMP:00178 NCBI chrNW_004936514:11,144,641...11,156,470 JBrowse link
G Umps uridine monophosphate synthetase ISO SMPDB SMP:00178 NCBI chrNW_004936725:553,278...564,846 JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00178 NCBI chrNW_004936619:668,380...713,720 JBrowse link
G Upp2 uridine phosphorylase 2 ISO SMPDB SMP:00178 NCBI chrNW_004936469:20,465,767...20,513,084 JBrowse link
dihydropyrimidine dehydrogenase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO SMPDB SMP:00179 NCBI chrNW_004936745:856,915...867,477 JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00179 NCBI chrNW_004936529:3,518,337...3,531,842 JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00179 NCBI chrNW_004936558:4,362,693...4,387,705 JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00179 NCBI chrNW_004936529:1,049,364...1,054,458 JBrowse link
G Cbs cystathionine beta-synthase ISO SMPDB SMP:00179 NCBI chrNW_004936500:976,043...1,003,559 JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00179 NCBI chrNW_004936591:1,619,446...1,643,667 JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00179 NCBI chrNW_004936479:16,247,230...16,271,597 JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00179 NCBI chrNW_004936549:6,838,773...6,899,961 JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00179 NCBI chrNW_004936588:721,436...724,475 JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00179 NCBI chrNW_004936478:6,848,448...6,889,103 JBrowse link
G Gatm glycine amidinotransferase ISO