Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:nervous system disease pathway
go back to main search page
Accession:PW:0001412 term browser browse the term
Definition:Any disease that affects the central or peripheral nervous system. It includes disorders of the brain, neurological, neurodegenerative, cerebrovascular disorders, syndromes, dystrophies, diseases of the central and peripheral nervous system, and others. However, mental or neuropsychiatric disorders are not included.


GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
2-hydroxyglutaric aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00136 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00136 NCBI chrNW_004955527:338,593...369,528
Ensembl chrNW_004955527:338,593...372,872
JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family member A1 ISO SMPDB SMP:00136 NCBI chrNW_004955483:2,467,425...2,494,416
Ensembl chrNW_004955483:2,467,425...2,494,416
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00136 NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00136 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00136 NCBI chrNW_004955493:2,083,272...2,113,403
Ensembl chrNW_004955493:2,090,940...2,113,843
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00136 NCBI chrNW_004955449:3,964,006...4,001,850
Ensembl chrNW_004955449:3,963,705...4,001,850
JBrowse link
G Gclc glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00136 NCBI chrNW_004955411:2,593,523...2,617,553
Ensembl chrNW_004955411:2,593,541...2,616,539
JBrowse link
G Gclm glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00136 NCBI chrNW_004955423:782,468...805,384
Ensembl chrNW_004955423:782,468...805,384
JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00136 NCBI chrNW_004955424:15,692,088...15,739,894
Ensembl chrNW_004955424:15,692,088...15,739,894
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00136 NCBI chrNW_004955458:4,055,088...4,065,307
Ensembl chrNW_004955458:4,050,674...4,065,322
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00136 NCBI chrNW_004955510:5,987,811...6,021,001 JBrowse link
G Glul glutamate-ammonia ligase ISO SMPDB SMP:00136 NCBI chrNW_004955406:21,266,383...21,274,546
Ensembl chrNW_004955406:21,266,383...21,275,309
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00136 NCBI chrNW_004955448:6,931,891...6,984,662
Ensembl chrNW_004955448:6,932,926...6,984,662
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00136 NCBI chrNW_004955409:10,406,248...10,424,431
Ensembl chrNW_004955409:10,406,723...10,424,431
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00136 NCBI chrNW_004955433:16,121,795...16,145,129
Ensembl chrNW_004955433:16,122,824...16,145,113
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00136 NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00136 NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583
JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00136 NCBI chrNW_004955422:26,427,581...26,483,380
Ensembl chrNW_004955422:26,427,581...26,463,781
JBrowse link
G Nadsyn1 NAD synthetase 1 ISO SMPDB SMP:00136 NCBI chrNW_004955422:15,067,711...15,113,942
Ensembl chrNW_004955422:15,066,708...15,114,049
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00136 NCBI chrNW_004955424:14,205,689...14,215,201
Ensembl chrNW_004955424:14,205,813...14,215,156
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00136 NCBI chrNW_004955447:14,552,846...14,607,416
Ensembl chrNW_004955447:14,574,407...14,607,416
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00136 NCBI chrNW_004955532:1,093,444...1,100,591
Ensembl chrNW_004955532:1,092,125...1,100,603
JBrowse link
3-methylcrotonyl CoA carboxylase 1 deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00237 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00237 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00237 NCBI chrNW_004955412:35,067,637...35,083,889
Ensembl chrNW_004955412:35,067,702...35,083,889
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00237 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00237 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00237 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00237 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00237 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00237 NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00237 NCBI chrNW_004955403:827,538...875,856
Ensembl chrNW_004955403:828,066...872,218
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00237 NCBI chrNW_004955515:971,778...1,124,019
Ensembl chrNW_004955515:971,800...1,123,474
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00237 NCBI chrNW_004955413:19,975,395...20,087,656
Ensembl chrNW_004955413:19,981,328...20,087,638
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00237 NCBI chrNW_004955555:334,253...357,417
Ensembl chrNW_004955555:333,642...358,799
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00237 NCBI chrNW_004955411:8,427,875...8,626,564
Ensembl chrNW_004955411:8,437,548...8,628,363
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00237 NCBI chrNW_004955435:4,975,664...5,005,126
Ensembl chrNW_004955435:4,973,830...5,017,816
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00237 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00237 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00237 NCBI chrNW_004955410:29,180,411...29,294,273
Ensembl chrNW_004955410:29,180,184...29,294,315
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00237 NCBI chrNW_004955403:8,752,339...8,796,693
Ensembl chrNW_004955403:8,752,309...8,792,927
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00237 NCBI chrNW_004955452:3,720,103...3,734,730
Ensembl chrNW_004955452:3,720,103...3,735,192
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00237 NCBI chrNW_004955435:22,804,484...22,820,807
Ensembl chrNW_004955435:22,804,484...22,821,482
JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00237 NCBI chrNW_004955475:478,690...481,029
Ensembl chrNW_004955475:478,690...481,029
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00237 NCBI chrNW_004955416:7,327,557...7,341,533
Ensembl chrNW_004955416:7,327,557...7,346,027
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00237 NCBI chrNW_004955420:11,781,662...11,828,060
Ensembl chrNW_004955420:11,781,104...11,820,338
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00237 NCBI chrNW_004955575:445,627...503,891
Ensembl chrNW_004955575:445,619...505,040
JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00237 NCBI chrNW_004955416:29,684,557...29,703,495
Ensembl chrNW_004955416:29,685,385...29,698,557
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00237 NCBI chrNW_004955411:8,363,142...8,397,839
Ensembl chrNW_004955411:8,363,142...8,399,216
JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00237 NCBI chrNW_004955426:25,885,518...25,998,187
Ensembl chrNW_004955426:25,885,518...26,003,743
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00237 NCBI chrNW_004955404:10,317,640...10,719,148
Ensembl chrNW_004955404:10,317,640...10,661,496
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00237 NCBI chrNW_004955501:2,474,330...2,563,107
Ensembl chrNW_004955501:2,474,330...2,563,837
JBrowse link
3-methylglutaconic aciduria type 3 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00140 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00140 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00140 NCBI chrNW_004955412:35,067,637...35,083,889
Ensembl chrNW_004955412:35,067,702...35,083,889
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00140 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00140 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00140 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00140 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00140 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00140 NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00140 NCBI chrNW_004955403:827,538...875,856
Ensembl chrNW_004955403:828,066...872,218
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00140 NCBI chrNW_004955515:971,778...1,124,019
Ensembl chrNW_004955515:971,800...1,123,474
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00140 NCBI chrNW_004955413:19,975,395...20,087,656
Ensembl chrNW_004955413:19,981,328...20,087,638
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00140 NCBI chrNW_004955555:334,253...357,417
Ensembl chrNW_004955555:333,642...358,799
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00140 NCBI chrNW_004955411:8,427,875...8,626,564
Ensembl chrNW_004955411:8,437,548...8,628,363
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00140 NCBI chrNW_004955435:4,975,664...5,005,126
Ensembl chrNW_004955435:4,973,830...5,017,816
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00140 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00140 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00140 NCBI chrNW_004955410:29,180,411...29,294,273
Ensembl chrNW_004955410:29,180,184...29,294,315
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00140 NCBI chrNW_004955403:8,752,339...8,796,693
Ensembl chrNW_004955403:8,752,309...8,792,927
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00140 NCBI chrNW_004955452:3,720,103...3,734,730
Ensembl chrNW_004955452:3,720,103...3,735,192
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00140 NCBI chrNW_004955435:22,804,484...22,820,807
Ensembl chrNW_004955435:22,804,484...22,821,482
JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00140 NCBI chrNW_004955475:478,690...481,029
Ensembl chrNW_004955475:478,690...481,029
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00140 NCBI chrNW_004955416:7,327,557...7,341,533
Ensembl chrNW_004955416:7,327,557...7,346,027
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00140 NCBI chrNW_004955420:11,781,662...11,828,060
Ensembl chrNW_004955420:11,781,104...11,820,338
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00140 NCBI chrNW_004955575:445,627...503,891
Ensembl chrNW_004955575:445,619...505,040
JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00140 NCBI chrNW_004955416:29,684,557...29,703,495
Ensembl chrNW_004955416:29,685,385...29,698,557
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00140 NCBI chrNW_004955411:8,363,142...8,397,839
Ensembl chrNW_004955411:8,363,142...8,399,216
JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00140 NCBI chrNW_004955426:25,885,518...25,998,187
Ensembl chrNW_004955426:25,885,518...26,003,743
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00140 NCBI chrNW_004955404:10,317,640...10,719,148
Ensembl chrNW_004955404:10,317,640...10,661,496
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00140 NCBI chrNW_004955501:2,474,330...2,563,107
Ensembl chrNW_004955501:2,474,330...2,563,837
JBrowse link
adrenoleukodystrophy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO SMPDB SMP:00516 NCBI chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00516 NCBI chrNW_004955505:717,800...769,702
Ensembl chrNW_004955505:721,222...798,470
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00516 NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00516 NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345
JBrowse link
G Crat carnitine O-acetyltransferase ISO SMPDB SMP:00516 NCBI chrNW_004955570:1,417,608...1,428,720
Ensembl chrNW_004955570:1,417,608...1,428,720
JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00516 NCBI chrNW_004955607:379,121...413,394
Ensembl chrNW_004955607:378,439...413,394
JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00516 NCBI chrNW_004955563:1,737,560...1,743,854
Ensembl chrNW_004955563:1,737,560...1,743,854
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00516 NCBI chrNW_004955424:22,799,568...22,830,718
Ensembl chrNW_004955424:22,799,568...22,830,718
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00516 NCBI chrNW_004955486:2,981,026...3,129,721
Ensembl chrNW_004955486:2,980,700...3,129,721
JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO SMPDB SMP:00516 NCBI chrNW_004955532:902,937...933,675
Ensembl chrNW_004955532:902,937...921,174
JBrowse link
AICA-ribosuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00168 NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00168 NCBI chrNW_004955462:9,196,984...9,278,850
Ensembl chrNW_004955462:9,207,314...9,278,621
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00168 NCBI chrNW_004955413:26,067,463...26,084,669
Ensembl chrNW_004955413:26,067,516...26,088,527
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00168 NCBI chrNW_004955406:7,684,979...7,715,179
Ensembl chrNW_004955406:7,683,596...7,715,616
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00168 NCBI chrNW_004955419:799,415...807,138
Ensembl chrNW_004955419:799,410...811,029
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00168 NCBI chrNW_004955435:17,962,487...17,991,625
Ensembl chrNW_004955435:17,962,514...17,991,556
JBrowse link
G Aprt adenine phosphoribosyltransferase ISO SMPDB SMP:00168 NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906
JBrowse link
G Atad1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00168 NCBI chrNW_004955425:5,118,107...5,180,578
Ensembl chrNW_004955425:5,117,964...5,180,578
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00168 NCBI chrNW_004955457:704,213...729,702
Ensembl chrNW_004955457:704,213...730,134
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00168 NCBI chrNW_004955424:11,739,904...11,773,884
Ensembl chrNW_004955424:11,738,859...11,773,902
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00168 NCBI chrNW_004955523:1,407,812...1,441,829
Ensembl chrNW_004955523:1,421,749...1,441,829
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00168 NCBI chrNW_004955513:5,352,843...5,357,671
Ensembl chrNW_004955513:5,353,229...5,356,019
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00168 NCBI chrNW_004955407:32,944,638...32,975,142
Ensembl chrNW_004955407:32,944,164...32,973,863
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00168 NCBI chrNW_004955434:983,388...1,050,413
Ensembl chrNW_004955434:983,388...1,049,948
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00168 NCBI chrNW_004955483:9,559,079...9,608,807
Ensembl chrNW_004955483:9,559,079...9,608,953
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00168 NCBI chrNW_004955448:6,931,891...6,984,662
Ensembl chrNW_004955448:6,932,926...6,984,662
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00168 NCBI chrNW_004955412:9,218,029...9,480,333
Ensembl chrNW_004955412:9,225,305...9,480,206
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00168 NCBI chrNW_004955471:11,303,478...11,349,512
Ensembl chrNW_004955471:11,303,242...11,351,190
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00168 NCBI chrNW_004955581:299,010...305,032
Ensembl chrNW_004955581:299,280...305,032
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00168 NCBI chrNW_004955473:462,940...510,006 JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00168 NCBI chrNW_004955479:9,388,241...9,406,717
Ensembl chrNW_004955479:9,388,108...9,406,764
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00168 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00168 NCBI chrNW_004955420:24,301,079...24,306,370
Ensembl chrNW_004955420:24,301,081...24,306,493
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00168 NCBI chrNW_004955485:7,318,006...7,394,448
Ensembl chrNW_004955485:7,317,588...7,394,448
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00168 NCBI chrNW_004955472:1,760,046...1,774,539
Ensembl chrNW_004955472:1,759,900...1,774,539
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00168 NCBI chrNW_004955462:190,872...211,975
Ensembl chrNW_004955462:190,999...203,736
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00168 NCBI chrNW_004955447:14,558,468...14,571,081
Ensembl chrNW_004955447:14,558,468...14,574,052
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00168 NCBI chrNW_004955439:16,114,530...16,370,648
Ensembl chrNW_004955439:16,114,530...16,365,146
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00168 NCBI chrNW_004955446:7,914,326...9,252,527
Ensembl chrNW_004955446:8,211,877...9,252,653
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00168 NCBI chrNW_004955467:8,640,044...8,660,950
Ensembl chrNW_004955467:8,640,044...8,660,979
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00168 NCBI chrNW_004955550:1,290,816...1,299,553
Ensembl chrNW_004955550:1,290,244...1,298,068
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00168 NCBI chrNW_004955447:14,552,846...14,607,416
Ensembl chrNW_004955447:14,574,407...14,607,416
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00168 NCBI chrNW_004955410:20,987,289...20,988,852 JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00168 NCBI chrNW_004955414:19,850,523...19,904,879
Ensembl chrNW_004955414:19,850,530...19,905,266
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00168 NCBI chrNW_004955487:5,477,097...5,481,422
Ensembl chrNW_004955487:5,476,954...5,483,049
JBrowse link
Alzheimer's disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102021956 alpha-2-macroglobulin ISO RGD PMID:9697696 RGD:1302534 NCBI chrNW_004955413:6,019,457...6,062,366
Ensembl chrNW_004955413:6,019,082...6,062,529
JBrowse link
G Psen2 presenilin 2 ISO DNA:missense mutation:cds:p.N141I (human) RGD PMID:10976645 RGD:9743900 NCBI chrNW_004955406:5,727,367...5,748,798
Ensembl chrNW_004955406:5,727,367...5,752,234
JBrowse link
G Ube2d3 ubiquitin conjugating enzyme E2 D3 ISO RGD PMID:11020223 RGD:1302873 NCBI chrNW_004955496:5,694,471...5,727,003
Ensembl chrNW_004955496:5,697,276...5,727,003
JBrowse link
G Ube2d4 ubiquitin conjugating enzyme E2 D4 (putative) ISO RGD PMID:11020223 RGD:1302873 NCBI chrNW_004955456:7,928,715...7,952,155
Ensembl chrNW_004955456:7,924,977...7,952,155
JBrowse link
G Ube2g1 ubiquitin conjugating enzyme E2 G1 ISO RGD PMID:11020223 RGD:1302873 NCBI chrNW_004955467:12,552,001...12,639,620
Ensembl chrNW_004955467:12,551,826...12,640,786
JBrowse link
G Ube2i ubiquitin conjugating enzyme E2 I ISO RGD PMID:11020223 RGD:1302873 NCBI chrNW_004955442:15,902,026...15,913,033
Ensembl chrNW_004955442:15,901,980...15,913,037
JBrowse link
G Ube2n ubiquitin conjugating enzyme E2 N ISO RGD PMID:11020223 RGD:1302873 NCBI chrNW_004955405:30,240,402...30,278,362
Ensembl chrNW_004955405:30,240,408...30,278,360
JBrowse link
amyotrophic lateral sclerosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a2 solute carrier family 1 member 2 ISO RGD PMID:9539131 RGD:1302517 NCBI chrNW_004955422:10,929,987...11,082,220
Ensembl chrNW_004955422:10,930,296...11,073,032
JBrowse link
G Sod1 superoxide dismutase 1 ISO RGD PMID:8446170 PMID:16583367 RGD:1581209 RGD:737689 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727
JBrowse link
argininosuccinic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00003 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00003 NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00003 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00003 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00003 NCBI chrNW_004955458:4,055,088...4,065,307
Ensembl chrNW_004955458:4,050,674...4,065,322
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00003 NCBI chrNW_004955510:5,987,811...6,021,001 JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00003 NCBI chrNW_004955433:16,121,795...16,145,129
Ensembl chrNW_004955433:16,122,824...16,145,113
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00003 NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00003 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00003 NCBI chrNW_004955424:19,474,082...19,499,592
Ensembl chrNW_004955424:19,474,082...19,499,592
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00003 NCBI chrNW_004955574:798,004...806,631 JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00003 NCBI chrNW_004955449:3,093,603...3,182,513
Ensembl chrNW_004955449:3,093,603...3,186,737
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00003 NCBI chrNW_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197
JBrowse link
beta-ureidopropionase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak3 adenylate kinase 3 ISO SMPDB SMP:00172 NCBI chrNW_004955434:8,998,357...9,010,468
Ensembl chrNW_004955434:9,000,158...9,011,250
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00172 NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865
JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00172 NCBI chrNW_004955506:3,707,028...3,722,339
Ensembl chrNW_004955506:3,713,277...3,722,390
JBrowse link
G Cda cytidine deaminase ISO SMPDB SMP:00172 NCBI chrNW_004955452:1,131,968...1,156,777
Ensembl chrNW_004955452:1,132,049...1,156,565
JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00172 NCBI chrNW_004955487:2,010,126...2,024,804
Ensembl chrNW_004955487:2,010,228...2,029,175
JBrowse link
G Ctps1 CTP synthase 1 ISO SMPDB SMP:00172 NCBI chrNW_004955537:773,664...811,084
Ensembl chrNW_004955537:774,002...813,254
JBrowse link
G Dctd dCMP deaminase ISO SMPDB SMP:00172 NCBI chrNW_004955403:25,825,366...25,849,511
Ensembl chrNW_004955403:25,825,672...25,850,862
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00172 NCBI chrNW_004955484:4,699,743...4,713,466
Ensembl chrNW_004955484:4,699,722...4,713,466
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00172 NCBI chrNW_004955435:2,007,185...2,800,907
Ensembl chrNW_004955435:2,007,185...2,766,138
JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00172 NCBI chrNW_004955417:28,183,771...28,244,309
Ensembl chrNW_004955417:28,185,407...28,244,307
JBrowse link
G Dut deoxyuridine triphosphatase ISO SMPDB SMP:00172 NCBI chrNW_004955409:5,574,810...5,584,135
Ensembl chrNW_004955409:5,574,694...5,584,134
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00172 NCBI chrNW_004955434:983,388...1,050,413
Ensembl chrNW_004955434:983,388...1,049,948
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00172 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00172 NCBI chrNW_004955420:24,301,079...24,306,370
Ensembl chrNW_004955420:24,301,081...24,306,493
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00172 NCBI chrNW_004955485:7,318,006...7,394,448
Ensembl chrNW_004955485:7,317,588...7,394,448
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00172 NCBI chrNW_004955487:5,477,097...5,481,422
Ensembl chrNW_004955487:5,476,954...5,483,049
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00172 NCBI chrNW_004955417:26,949,686...26,976,976
Ensembl chrNW_004955417:26,949,686...26,976,726
JBrowse link
G Tk1 thymidine kinase 1 ISO SMPDB SMP:00172 NCBI chrNW_004955506:4,379,830...4,390,729
Ensembl chrNW_004955506:4,379,830...4,394,713
JBrowse link
G Tymp thymidine phosphorylase ISO SMPDB SMP:00172 NCBI chrNW_004955413:33,505,424...33,509,095
Ensembl chrNW_004955413:33,505,446...33,508,748
JBrowse link
G Tyms thymidylate synthetase ISO SMPDB SMP:00172 NCBI chrNW_004955402:9,295,862...9,304,952
Ensembl chrNW_004955402:9,296,321...9,306,631
JBrowse link
G Uckl1 uridine-cytidine kinase 1 like 1 ISO SMPDB SMP:00172 NCBI chrNW_004955528:297,952...311,306
Ensembl chrNW_004955528:297,952...311,306
JBrowse link
G Umps uridine monophosphate synthetase ISO SMPDB SMP:00172 NCBI chrNW_004955427:23,825,529...23,841,427
Ensembl chrNW_004955427:23,825,523...23,841,152
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00172 NCBI chrNW_004955455:7,961,296...7,992,235
Ensembl chrNW_004955455:7,961,264...7,995,946
JBrowse link
G Upp2 uridine phosphorylase 2 ISO SMPDB SMP:00172 NCBI chrNW_004955449:15,355,592...15,405,997
Ensembl chrNW_004955449:15,365,106...15,405,235
JBrowse link
CADASIL pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO Mutations are predominantly found in the EGF repeats and clustered within the first five RGD PMID:9388399 RGD:1334441 NCBI chrNW_004955495:8,012,370...8,048,616
Ensembl chrNW_004955495:8,012,502...8,047,710
JBrowse link
Canavan disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00175 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00175 NCBI chrNW_004955413:26,067,463...26,084,669
Ensembl chrNW_004955413:26,067,516...26,088,527
JBrowse link
G Adss1 adenylosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chrNW_004955538:3,179,299...3,196,251
Ensembl chrNW_004955538:3,179,299...3,196,251
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00175 NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992
JBrowse link
G Aspa aspartoacylase ISO SMPDB SMP:00175 NCBI chrNW_004955467:13,277,014...13,332,658
Ensembl chrNW_004955467:13,280,254...13,316,114
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00175 NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865
JBrowse link
G Dars1 aspartyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chrNW_004955440:3,268,648...3,345,808
Ensembl chrNW_004955440:3,266,821...3,345,808
JBrowse link
G Ddo D-aspartate oxidase ISO SMPDB SMP:00175 NCBI chrNW_004955411:35,142,415...35,163,234
Ensembl chrNW_004955411:35,143,735...35,163,276
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00175 NCBI chrNW_004955449:3,964,006...4,001,850
Ensembl chrNW_004955449:3,963,705...4,001,850
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00175 NCBI chrNW_004955559:1,012,634...1,047,051
Ensembl chrNW_004955559:1,034,917...1,047,034
JBrowse link
G Nars1 asparaginyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chrNW_004955402:41,947,592...41,967,136
Ensembl chrNW_004955402:41,946,098...41,967,644
JBrowse link
carbamoyl phosphate synthetase I deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00002 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chrNW_004955458:4,055,088...4,065,307
Ensembl chrNW_004955458:4,050,674...4,065,322
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chrNW_004955510:5,987,811...6,021,001 JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chrNW_004955433:16,121,795...16,145,129
Ensembl chrNW_004955433:16,122,824...16,145,113
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00002 NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00002 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chrNW_004955424:19,474,082...19,499,592
Ensembl chrNW_004955424:19,474,082...19,499,592
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chrNW_004955574:798,004...806,631 JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chrNW_004955449:3,093,603...3,182,513
Ensembl chrNW_004955449:3,093,603...3,186,737
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chrNW_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197
JBrowse link
carnosinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00493 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00493 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00493 NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073
JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO SMPDB SMP:00493 NCBI chrNW_004955402:57,970,205...58,019,980
Ensembl chrNW_004955402:57,970,161...58,019,479
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00493 NCBI chrNW_004955435:2,007,185...2,800,907
Ensembl chrNW_004955435:2,007,185...2,766,138
JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00493 NCBI chrNW_004955417:28,183,771...28,244,309
Ensembl chrNW_004955417:28,185,407...28,244,307
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00493 NCBI chrNW_004955449:3,964,006...4,001,850
Ensembl chrNW_004955449:3,963,705...4,001,850
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00493 NCBI chrNW_004955455:7,961,296...7,992,235
Ensembl chrNW_004955455:7,961,264...7,995,946
JBrowse link
citrullinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00001 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00001 NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00001 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00001 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00001 NCBI chrNW_004955458:4,055,088...4,065,307
Ensembl chrNW_004955458:4,050,674...4,065,322
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00001 NCBI chrNW_004955510:5,987,811...6,021,001 JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00001 NCBI chrNW_004955433:16,121,795...16,145,129
Ensembl chrNW_004955433:16,122,824...16,145,113
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00001 NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00001 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00001 NCBI chrNW_004955424:19,474,082...19,499,592
Ensembl chrNW_004955424:19,474,082...19,499,592
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00001 NCBI chrNW_004955574:798,004...806,631 JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00001 NCBI chrNW_004955449:3,093,603...3,182,513
Ensembl chrNW_004955449:3,093,603...3,186,737
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00001 NCBI chrNW_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197
JBrowse link
dopa responsive dystonia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbr1 carbonyl reductase 1 ISO SMPDB SMP:00486 NCBI chrNW_004955407:35,351,601...35,354,510 JBrowse link
G Dhfr dihydrofolate reductase ISO SMPDB SMP:00486 NCBI chrNW_004955418:29,274,170...29,283,028 JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO SMPDB SMP:00486 NCBI chrNW_004955409:8,624,225...8,670,436
Ensembl chrNW_004955409:8,624,468...8,668,614
JBrowse link
G Gchfr GTP cyclohydrolase I feedback regulator ISO SMPDB SMP:00486 NCBI chrNW_004955416:7,617,333...7,620,455
Ensembl chrNW_004955416:7,617,333...7,620,455
JBrowse link
G Pts 6-pyruvoyltetrahydropterin synthase ISO SMPDB SMP:00486 NCBI chrNW_004955412:13,880,937...13,888,562
Ensembl chrNW_004955412:13,880,937...13,888,562
JBrowse link
G Qdpr quinoid dihydropteridine reductase ISO SMPDB SMP:00486 NCBI chrNW_004955480:6,646,088...6,666,866
Ensembl chrNW_004955480:6,646,088...6,669,526
JBrowse link
G Spr sepiapterin reductase ISO SMPDB SMP:00486 NCBI chrNW_004955424:12,711,064...12,716,000
Ensembl chrNW_004955424:12,711,064...12,716,000
JBrowse link
dopamine beta-hydroxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00498 NCBI chrNW_004955467:96,140...105,738
Ensembl chrNW_004955467:96,140...105,738
JBrowse link
G Aoc1 amine oxidase copper containing 1 ISO SMPDB SMP:00498 NCBI chrNW_004955491:5,316,482...5,326,262
Ensembl chrNW_004955491:5,316,476...5,326,305
JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00498 NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412
JBrowse link
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00498 NCBI chrNW_004955513:2,918,085...2,932,481
Ensembl chrNW_004955513:2,918,286...2,932,247
JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00498 NCBI chrNW_004955404:15,359,402...15,395,556
Ensembl chrNW_004955404:15,359,402...15,395,535
JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00498 NCBI chrNW_004955456:3,513,779...3,582,851
Ensembl chrNW_004955456:3,513,042...3,582,911
JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00498 NCBI chrNW_004955533:904,294...921,730
Ensembl chrNW_004955533:904,295...921,730
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00498 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00498 NCBI chrNW_004955438:1,218,990...1,231,407
Ensembl chrNW_004955438:1,219,018...1,231,287
JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00498 NCBI chrNW_004955441:10,114,863...10,128,948
Ensembl chrNW_004955441:10,110,380...10,129,015
JBrowse link
G Hgd homogentisate 1,2-dioxygenase ISO SMPDB SMP:00498 NCBI chrNW_004955427:20,141,522...20,188,700
Ensembl chrNW_004955427:20,137,861...20,188,700
JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00498 NCBI chrNW_004955482:6,586,975...6,595,034
Ensembl chrNW_004955482:6,586,975...6,595,034
JBrowse link
G Maoa amine oxidase [flavin-containing] A ISO SMPDB SMP:00498 NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317
JBrowse link
G Mif macrophage migration inhibitory factor ISO SMPDB SMP:00498 NCBI chrNW_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460
JBrowse link
G Pnmt phenylethanolamine N-methyltransferase ISO SMPDB SMP:00498 NCBI chrNW_004955451:14,414,836...14,417,972
Ensembl chrNW_004955451:14,416,121...14,417,901
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00498 NCBI chrNW_004955484:4,278,083...4,287,535
Ensembl chrNW_004955484:4,276,953...4,287,627
JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00498 NCBI chrNW_004955414:4,244,035...4,314,001
Ensembl chrNW_004955414:4,244,035...4,314,001
JBrowse link
ethylmalonic encephalopathy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00181 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00181 NCBI chrNW_004955457:5,266,032...5,300,632
Ensembl chrNW_004955457:5,266,033...5,300,056
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00181 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00181 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00181 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00181 NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00181 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00181 NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00181 NCBI chrNW_004955422:17,105,887...17,159,696
Ensembl chrNW_004955422:17,109,256...17,159,838
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00181 NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00181 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00181 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00181 NCBI chrNW_004955469:8,183,945...8,233,869
Ensembl chrNW_004955469:8,183,945...8,233,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00181 NCBI chrNW_004955469:8,233,980...8,272,149
Ensembl chrNW_004955469:8,233,980...8,274,450
JBrowse link
Fabry disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00525 NCBI chrNW_004955495:3,247,170...3,271,417
Ensembl chrNW_004955495:3,247,083...3,271,720
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00525 NCBI chrNW_004955414:14,741,027...14,846,931
Ensembl chrNW_004955414:14,746,529...14,848,151
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00525 NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00525 NCBI chrNW_004955402:18,945,013...19,024,132
Ensembl chrNW_004955402:18,942,872...19,024,132
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00525 NCBI chrNW_004955413:30,658,472...30,693,948
Ensembl chrNW_004955413:30,660,593...30,679,674
JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00525 NCBI chrNW_004955438:21,300,118...21,313,330
Ensembl chrNW_004955438:21,300,118...21,313,330
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00525 NCBI chrNW_004955506:3,151,133...3,154,613
Ensembl chrNW_004955506:3,151,133...3,154,613
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00525 NCBI chrNW_004955455:4,771,378...4,794,085
Ensembl chrNW_004955455:4,771,346...4,784,142
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00525 NCBI chrNW_004955438:10,667,807...10,704,386
Ensembl chrNW_004955438:10,667,807...10,704,384
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00525 NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00525 NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00525 NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00525 NCBI chrNW_004955402:47,092,779...47,130,131
Ensembl chrNW_004955402:47,092,779...47,130,132
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00525 NCBI chrNW_004955414:16,783,996...16,798,368
Ensembl chrNW_004955414:16,788,171...16,798,535
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00525 NCBI chrNW_004955446:12,201,678...12,279,992
Ensembl chrNW_004955446:12,229,395...12,279,737
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00525 NCBI chrNW_004955425:5,507,905...5,819,357
Ensembl chrNW_004955425:5,784,751...5,822,488
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00525 NCBI chrNW_004955437:20,489,641...20,547,105
Ensembl chrNW_004955437:20,488,330...20,547,171
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00525 NCBI chrNW_004955453:11,244,077...11,361,990
Ensembl chrNW_004955453:11,242,647...11,359,569
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00525 NCBI chrNW_004955559:1,921,479...1,929,450
Ensembl chrNW_004955559:1,917,301...1,928,493
JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00525 NCBI chrNW_004955515:57,711...161,012
Ensembl chrNW_004955515:57,711...161,611
JBrowse link
G Sptlc2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00525 NCBI chrNW_004955438:1,385,431...1,491,534
Ensembl chrNW_004955438:1,385,431...1,491,578
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00525 NCBI chrNW_004955419:15,417,468...15,451,936
Ensembl chrNW_004955419:15,416,796...15,451,936
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00525 NCBI chrNW_004955428:24,800,854...24,864,904
Ensembl chrNW_004955428:24,800,854...24,865,378
JBrowse link
french type sialuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amdhd2 amidohydrolase domain containing 2 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955442:14,775,528...14,791,650
Ensembl chrNW_004955442:14,782,755...14,791,649
JBrowse link
G Chit1 chitinase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955406:39,229,161...39,253,328
Ensembl chrNW_004955406:39,229,356...39,241,540
JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955413:17,575,469...17,596,379
Ensembl chrNW_004955413:17,575,469...17,599,859
JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955424:15,692,088...15,739,894
Ensembl chrNW_004955424:15,692,088...15,739,894
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955472:56,623...92,553
Ensembl chrNW_004955472:45,926...97,082
JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955415:11,770,111...11,783,430
Ensembl chrNW_004955415:11,770,063...11,784,188
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955409:10,406,248...10,424,431
Ensembl chrNW_004955409:10,406,723...10,424,431
JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955437:21,733,314...21,824,303
Ensembl chrNW_004955437:21,731,584...21,816,324
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955424:14,205,689...14,215,201
Ensembl chrNW_004955424:14,205,813...14,215,156
JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955415:31,453,393...31,460,147
Ensembl chrNW_004955415:31,453,393...31,460,386
JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955419:27,424,648...27,449,058
Ensembl chrNW_004955419:27,424,674...27,448,952
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955406:21,633,979...21,670,279
Ensembl chrNW_004955406:21,633,032...21,670,958
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955411:10,904,022...10,925,613
Ensembl chrNW_004955411:10,904,022...10,924,216
JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027
JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955493:8,693,933...8,719,250
Ensembl chrNW_004955493:8,693,679...8,719,250
JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955462:13,765,197...13,799,937
Ensembl chrNW_004955462:13,760,693...13,800,417
JBrowse link
fumaric aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO SMPDB SMP:00547 NCBI chrNW_004955413:27,027,341...27,065,227
Ensembl chrNW_004955413:27,027,341...27,065,227
JBrowse link
G Cs citrate synthase ISO SMPDB SMP:00547 NCBI chrNW_004955458:3,881,798...3,913,044
Ensembl chrNW_004955458:3,881,798...3,893,401
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00547 NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00547 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00547 NCBI chrNW_004955523:660,413...680,878
Ensembl chrNW_004955523:661,738...680,802
JBrowse link
G Fh fumarate hydratase ISO SMPDB SMP:00547 NCBI chrNW_004955406:10,535,801...10,558,649
Ensembl chrNW_004955406:10,535,323...10,561,627
JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO SMPDB SMP:00547 NCBI chrNW_004955450:685,905...703,593
Ensembl chrNW_004955450:685,905...703,586
JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO SMPDB SMP:00547 NCBI chrNW_004955415:13,642,804...13,649,023
Ensembl chrNW_004955415:13,643,168...13,649,463
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO SMPDB SMP:00547 NCBI chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608
JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00547 NCBI chrNW_004955456:14,819,406...14,833,547
Ensembl chrNW_004955456:14,819,406...14,837,142
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00547 NCBI chrNW_004955439:15,515,966...15,531,618
Ensembl chrNW_004955439:15,516,090...15,531,116
JBrowse link
G Ogdh oxoglutarate dehydrogenase ISO SMPDB SMP:00547 NCBI chrNW_004955456:7,416,343...7,484,889
Ensembl chrNW_004955456:7,415,589...7,485,515
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00547 NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00547 NCBI chrNW_004955586:98,492...114,927
Ensembl chrNW_004955586:97,172...114,928
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00547 NCBI chrNW_004955430:1,707,615...1,713,541
Ensembl chrNW_004955430:1,707,615...1,713,541
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO SMPDB SMP:00547 NCBI chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO SMPDB SMP:00547 NCBI chrNW_004955527:1,769,280...1,792,496
Ensembl chrNW_004955527:1,768,940...1,792,361
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO SMPDB SMP:00547 NCBI chrNW_004955468:13,050,359...13,083,932
Ensembl chrNW_004955468:13,049,848...13,083,156
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO SMPDB SMP:00547 NCBI chrNW_004955412:13,768,501...13,778,944
Ensembl chrNW_004955412:13,768,501...13,778,932
JBrowse link
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO SMPDB SMP:00547 NCBI chrNW_004955424:2,810,557...2,838,827
Ensembl chrNW_004955424:2,810,557...2,842,036
JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO SMPDB SMP:00547 NCBI chrNW_004955421:20,089,471...20,350,334
Ensembl chrNW_004955421:20,089,237...20,350,843
JBrowse link
galactokinase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gale UDP-galactose-4-epimerase ISO SMPDB SMP:00495 NCBI chrNW_004955452:3,715,107...3,719,288
Ensembl chrNW_004955452:3,713,080...3,718,425
JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00495 NCBI chrNW_004955506:6,489,799...6,493,354
Ensembl chrNW_004955506:6,489,800...6,493,354
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00495 NCBI chrNW_004955472:1,487,173...1,490,548
Ensembl chrNW_004955472:1,487,173...1,490,986
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00495 NCBI chrNW_004955456:7,784,269...7,838,260
Ensembl chrNW_004955456:7,783,760...7,842,129
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00495 NCBI chrNW_004955423:26,408,775...26,437,527
Ensembl chrNW_004955423:26,408,595...26,437,527
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00495 NCBI chrNW_004955443:7,868,893...7,882,136
Ensembl chrNW_004955443:7,868,893...7,882,129
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00495 NCBI chrNW_004955424:20,444,974...20,490,016
Ensembl chrNW_004955424:20,444,405...20,490,379
JBrowse link
G Uxs1 UDP-glucuronate decarboxylase 1 ISO SMPDB SMP:00495 NCBI chrNW_004955470:10,661,210...10,706,504
Ensembl chrNW_004955470:10,659,520...10,706,269
JBrowse link
galactosemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galt1 beta-1,4-galactosyltransferase 1 ISO SMPDB SMP:00182 NCBI chrNW_004955472:2,490,649...2,536,053
Ensembl chrNW_004955472:2,490,661...2,536,317
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00182 NCBI chrNW_004955451:16,672,512...16,680,001
Ensembl chrNW_004955451:16,672,979...16,680,001
JBrowse link
G Gaa alpha glucosidase ISO SMPDB SMP:00182 NCBI chrNW_004955506:2,764,959...2,783,231
Ensembl chrNW_004955506:2,764,959...2,783,231
JBrowse link
G Gale UDP-galactose-4-epimerase ISO SMPDB SMP:00182 NCBI chrNW_004955452:3,715,107...3,719,288
Ensembl chrNW_004955452:3,713,080...3,718,425
JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00182 NCBI chrNW_004955506:6,489,799...6,493,354
Ensembl chrNW_004955506:6,489,800...6,493,354
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00182 NCBI chrNW_004955472:1,487,173...1,490,548
Ensembl chrNW_004955472:1,487,173...1,490,986
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00182 NCBI chrNW_004955456:7,784,269...7,838,260
Ensembl chrNW_004955456:7,783,760...7,842,129
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00182 NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00182 NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00182 NCBI chrNW_004955437:21,733,314...21,824,303
Ensembl chrNW_004955437:21,731,584...21,816,324
JBrowse link
G Lct lactase ISO SMPDB SMP:00182 NCBI chrNW_004955440:3,148,730...3,197,110
Ensembl chrNW_004955440:3,148,730...3,197,110
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00182 NCBI chrNW_004955423:26,408,775...26,437,527
Ensembl chrNW_004955423:26,408,595...26,437,527
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00182 NCBI chrNW_004955424:20,444,974...20,490,016
Ensembl chrNW_004955424:20,444,405...20,490,379
JBrowse link
GALE deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gale UDP-galactose-4-epimerase ISO SMPDB SMP:00496 NCBI chrNW_004955452:3,715,107...3,719,288
Ensembl chrNW_004955452:3,713,080...3,718,425
JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00496 NCBI chrNW_004955506:6,489,799...6,493,354
Ensembl chrNW_004955506:6,489,800...6,493,354
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00496 NCBI chrNW_004955472:1,487,173...1,490,548
Ensembl chrNW_004955472:1,487,173...1,490,986
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00496 NCBI chrNW_004955456:7,784,269...7,838,260
Ensembl chrNW_004955456:7,783,760...7,842,129
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00496 NCBI chrNW_004955423:26,408,775...26,437,527
Ensembl chrNW_004955423:26,408,595...26,437,527
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00496 NCBI chrNW_004955443:7,868,893...7,882,136
Ensembl chrNW_004955443:7,868,893...7,882,129
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00496 NCBI chrNW_004955424:20,444,974...20,490,016
Ensembl chrNW_004955424:20,444,405...20,490,379
JBrowse link
G Uxs1 UDP-glucuronate decarboxylase 1 ISO SMPDB SMP:00496 NCBI chrNW_004955470:10,661,210...10,706,504
Ensembl chrNW_004955470:10,659,520...10,706,269
JBrowse link
Gaucher's disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00349 NCBI chrNW_004955495:3,247,170...3,271,417
Ensembl chrNW_004955495:3,247,083...3,271,720
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00349 NCBI chrNW_004955414:14,741,027...14,846,931
Ensembl chrNW_004955414:14,746,529...14,848,151
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00349 NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00349 NCBI chrNW_004955402:18,945,013...19,024,132
Ensembl chrNW_004955402:18,942,872...19,024,132
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00349 NCBI chrNW_004955413:30,658,472...30,693,948
Ensembl chrNW_004955413:30,660,593...30,679,674
JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00349 NCBI chrNW_004955438:21,300,118...21,313,330
Ensembl chrNW_004955438:21,300,118...21,313,330
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00349 NCBI chrNW_004955506:3,151,133...3,154,613
Ensembl chrNW_004955506:3,151,133...3,154,613
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00349 NCBI chrNW_004955455:4,771,378...4,794,085
Ensembl chrNW_004955455:4,771,346...4,784,142
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00349 NCBI chrNW_004955438:10,667,807...10,704,386
Ensembl chrNW_004955438:10,667,807...10,704,384
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00349 NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00349 NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00349 NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00349 NCBI chrNW_004955402:47,092,779...47,130,131
Ensembl chrNW_004955402:47,092,779...47,130,132
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00349 NCBI chrNW_004955414:16,783,996...16,798,368
Ensembl chrNW_004955414:16,788,171...16,798,535
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00349 NCBI chrNW_004955446:12,201,678...12,279,992
Ensembl chrNW_004955446:12,229,395...12,279,737
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00349 NCBI chrNW_004955425:5,507,905...5,819,357
Ensembl chrNW_004955425:5,784,751...5,822,488
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00349 NCBI chrNW_004955437:20,489,641...20,547,105
Ensembl chrNW_004955437:20,488,330...20,547,171
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00349 NCBI chrNW_004955453:11,244,077...11,361,990
Ensembl chrNW_004955453:11,242,647...11,359,569
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00349 NCBI chrNW_004955559:1,921,479...1,929,450
Ensembl chrNW_004955559:1,917,301...1,928,493
JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00349 NCBI chrNW_004955515:57,711...161,012
Ensembl chrNW_004955515:57,711...161,611
JBrowse link
G Sptlc2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00349 NCBI chrNW_004955438:1,385,431...1,491,534
Ensembl chrNW_004955438:1,385,431...1,491,578
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00349 NCBI chrNW_004955419:15,417,468...15,451,936
Ensembl chrNW_004955419:15,416,796...15,451,936
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00349 NCBI chrNW_004955428:24,800,854...24,864,904
Ensembl chrNW_004955428:24,800,854...24,865,378
JBrowse link
glutaric aciduria type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00186 NCBI chrNW_004955479:3,746,003...3,805,835
Ensembl chrNW_004955479:3,742,757...3,814,338
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00185 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00185 NCBI chrNW_004955457:5,266,032...5,300,632
Ensembl chrNW_004955457:5,266,033...5,300,056
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00185 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00185 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00185 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00185 NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00185 NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00186 NCBI chrNW_004955521:4,365,075...4,396,105
Ensembl chrNW_004955521:4,364,638...4,396,129
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00185 NCBI chrNW_004955422:17,105,887...17,159,696
Ensembl chrNW_004955422:17,109,256...17,159,838
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00185 NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00186 NCBI chrNW_004955462:103,501...163,472
Ensembl chrNW_004955462:103,598...162,344
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00186 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00186 NCBI chrNW_004955523:660,413...680,878
Ensembl chrNW_004955523:661,738...680,802
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00185 SMP:00186 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00186 NCBI chrNW_004955496:1,835,034...1,861,410
Ensembl chrNW_004955496:1,835,034...1,861,407
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00185 NCBI chrNW_004955469:8,183,945...8,233,869
Ensembl chrNW_004955469:8,183,945...8,233,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00185 NCBI chrNW_004955469:8,233,980...8,272,149
Ensembl chrNW_004955469:8,233,980...8,274,450
JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00186 NCBI chrNW_004955481:4,128,503...4,225,027
Ensembl chrNW_004955481:4,128,509...4,143,334
JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00186 NCBI chrNW_004955552:2,117,972...2,141,144
Ensembl chrNW_004955552:2,117,755...2,141,231
JBrowse link
guanidinoacetate methyltransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004955527:338,593...369,528
Ensembl chrNW_004955527:338,593...372,872
JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004955538:2,379,868...2,380,771 JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Dao D-amino acid oxidase ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004955455:10,095,597...10,127,244
Ensembl chrNW_004955455:10,095,300...10,127,666
JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004955520:3,550,558...3,606,015
Ensembl chrNW_004955520:3,550,558...3,606,697
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004955495:6,536,541...6,539,424
Ensembl chrNW_004955495:6,536,544...6,539,424
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004955510:5,987,811...6,021,001 JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004955477:2,430,146...2,450,135
Ensembl chrNW_004955477:2,429,776...2,450,624
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004955414:17,344,512...17,376,564
Ensembl chrNW_004955414:17,344,509...17,376,564
JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004955489:138,600...143,112
Ensembl chrNW_004955489:138,600...143,112
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004955411:14,470,479...14,527,895
Ensembl chrNW_004955411:14,470,479...14,527,895
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197
JBrowse link
gyrate atrophy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00363 NCBI chrNW_004955527:338,593...369,528
Ensembl chrNW_004955527:338,593...372,872
JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00363 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00363 NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00363 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00363 NCBI chrNW_004955538:2,379,868...2,380,771 JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00363 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Dao D-amino acid oxidase ISO SMPDB SMP:00363 NCBI chrNW_004955455:10,095,597...10,127,244
Ensembl chrNW_004955455:10,095,300...10,127,666
JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00363 NCBI chrNW_004955520:3,550,558...3,606,015
Ensembl chrNW_004955520:3,550,558...3,606,697
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00363 NCBI chrNW_004955495:6,536,541...6,539,424
Ensembl chrNW_004955495:6,536,544...6,539,424
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00363 NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00363 NCBI chrNW_004955510:5,987,811...6,021,001 JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00363 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00363 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00363 NCBI chrNW_004955477:2,430,146...2,450,135
Ensembl chrNW_004955477:2,429,776...2,450,624
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00363 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00363 NCBI chrNW_004955414:17,344,512...17,376,564
Ensembl chrNW_004955414:17,344,509...17,376,564
JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00363 NCBI chrNW_004955489:138,600...143,112
Ensembl chrNW_004955489:138,600...143,112
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00363 NCBI chrNW_004955411:14,470,479...14,527,895
Ensembl chrNW_004955411:14,470,479...14,527,895
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00363 NCBI chrNW_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197
JBrowse link
Hartnup disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 (Colton blood group) ISO SMPDB SMP:00189 NCBI chrNW_004955410:32,066,196...32,078,661
Ensembl chrNW_004955410:32,066,196...32,078,717
JBrowse link
G Aqp2 aquaporin 2 ISO SMPDB SMP:00189 NCBI chrNW_004955547:547,770...555,764
Ensembl chrNW_004955547:547,064...555,958
JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO SMPDB SMP:00189 NCBI chrNW_004955472:2,234,770...2,239,753
Ensembl chrNW_004955472:2,234,770...2,240,027
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00189 NCBI chrNW_004955435:19,537,224...19,563,631
Ensembl chrNW_004955435:19,536,634...19,564,580
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO SMPDB SMP:00189 NCBI chrNW_004955468:11,898,786...11,924,341
Ensembl chrNW_004955468:11,898,915...11,922,400
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00189 NCBI chrNW_004955555:869,508...892,510
Ensembl chrNW_004955555:869,325...893,542
JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00189 NCBI chrNW_004955462:8,072,519...8,095,311
Ensembl chrNW_004955462:8,073,679...8,094,880
JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00189 NCBI chrNW_004955467:9,261,775...9,268,743
Ensembl chrNW_004955467:9,261,775...9,268,743
JBrowse link
G Atp1b3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00189 NCBI chrNW_004955508:3,848,745...3,875,992
Ensembl chrNW_004955508:3,859,399...3,875,276
JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00189 NCBI chrNW_004955572:1,507,290...1,524,359
Ensembl chrNW_004955572:1,507,290...1,524,422
JBrowse link
G Fxyd2 FXYD domain containing ion transport regulator 2 ISO SMPDB SMP:00189 NCBI chrNW_004955412:19,039,635...19,046,172
Ensembl chrNW_004955412:19,039,635...19,046,159
JBrowse link
G Nr3c2 nuclear receptor subfamily 3 group C member 2 ISO SMPDB SMP:00189 NCBI chrNW_004955471:3,059,210...3,397,894
Ensembl chrNW_004955471:3,061,735...3,395,520
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00189 NCBI chrNW_004955413:4,000,083...4,023,596
Ensembl chrNW_004955413:3,999,613...4,023,596
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00189 NCBI chrNW_004955493:1,937,507...1,956,248
Ensembl chrNW_004955493:1,904,220...1,956,303
JBrowse link
G Scnn1d sodium channel epithelial 1 subunit delta ISO SMPDB SMP:00189 NCBI chrNW_004955486:9,508,435...9,514,107 JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00189 NCBI chrNW_004955493:1,787,693...1,813,085
Ensembl chrNW_004955493:1,784,885...1,813,205
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO SMPDB SMP:00189 NCBI chrNW_004955409:5,597,033...5,680,009
Ensembl chrNW_004955409:5,597,033...5,680,009
JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO SMPDB SMP:00189 NCBI chrNW_004955433:14,553,752...14,588,317
Ensembl chrNW_004955433:14,553,758...14,587,602
JBrowse link
G Slc12a6 solute carrier family 12 member 6 ISO SMPDB SMP:00189 NCBI chrNW_004955416:277,215...375,812
Ensembl chrNW_004955416:276,987...375,812
JBrowse link
G Slc14a2 solute carrier family 14 member 2 ISO SMPDB SMP:00189 NCBI chrNW_004955402:30,877,808...31,283,983
Ensembl chrNW_004955402:31,115,937...31,285,228
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO SMPDB SMP:00189 NCBI chrNW_004955434:8,790,685...8,879,757
Ensembl chrNW_004955434:8,790,685...8,879,757
JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO SMPDB SMP:00189 NCBI chrNW_004955439:20,567,241...20,608,281
Ensembl chrNW_004955439:20,567,212...20,609,105
JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO SMPDB SMP:00189 NCBI chrNW_004955599:302,026...307,503
Ensembl chrNW_004955599:301,981...311,447
JBrowse link
G Slc38a4 solute carrier family 38 member 4 ISO SMPDB SMP:00189 NCBI chrNW_004955500:5,859,566...5,925,084
Ensembl chrNW_004955500:5,858,642...5,925,589
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO SMPDB SMP:00189 NCBI chrNW_004955441:11,381,390...11,418,193
Ensembl chrNW_004955441:11,381,441...11,418,025
JBrowse link
G Slc3a2 solute carrier family 3 member 2 ISO SMPDB SMP:00189 NCBI chrNW_004955599:376,133...391,434
Ensembl chrNW_004955599:376,245...391,311
JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO SMPDB SMP:00189 NCBI chrNW_004955541:2,103,437...2,129,668
Ensembl chrNW_004955541:2,103,384...2,130,310
JBrowse link
G Slc7a6 solute carrier family 7 member 6 ISO SMPDB SMP:00189 NCBI chrNW_004955484:8,335,508...8,383,814
Ensembl chrNW_004955484:8,349,622...8,383,475
JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO SMPDB SMP:00189 NCBI chrNW_004955409:37,467,151...37,513,533
Ensembl chrNW_004955409:37,468,583...37,513,533
JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO SMPDB SMP:00189 NCBI chrNW_004955409:37,119,189...37,171,300
Ensembl chrNW_004955409:37,119,378...37,173,310
JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO SMPDB SMP:00189 NCBI chrNW_004955468:5,112,057...5,201,272
Ensembl chrNW_004955468:5,112,161...5,200,266
JBrowse link
homocarnosinosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00385 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00385 NCBI chrNW_004955527:338,593...369,528
Ensembl chrNW_004955527:338,593...372,872
JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family member A1 ISO SMPDB SMP:00385 NCBI chrNW_004955483:2,467,425...2,494,416
Ensembl chrNW_004955483:2,467,425...2,494,416
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00385 NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00385 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00385 NCBI chrNW_004955493:2,083,272...2,113,403
Ensembl chrNW_004955493:2,090,940...2,113,843
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00385 NCBI chrNW_004955449:3,964,006...4,001,850
Ensembl chrNW_004955449:3,963,705...4,001,850
JBrowse link
G Gclc glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00385 NCBI chrNW_004955411:2,593,523...2,617,553
Ensembl chrNW_004955411:2,593,541...2,616,539
JBrowse link
G Gclm glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00385 NCBI chrNW_004955423:782,468...805,384
Ensembl chrNW_004955423:782,468...805,384
JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00385 NCBI chrNW_004955424:15,692,088...15,739,894
Ensembl chrNW_004955424:15,692,088...15,739,894
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00385 NCBI chrNW_004955458:4,055,088...4,065,307
Ensembl chrNW_004955458:4,050,674...4,065,322
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00385 NCBI chrNW_004955510:5,987,811...6,021,001 JBrowse link
G Glul glutamate-ammonia ligase ISO SMPDB SMP:00385 NCBI chrNW_004955406:21,266,383...21,274,546
Ensembl chrNW_004955406:21,266,383...21,275,309
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00385 NCBI chrNW_004955448:6,931,891...6,984,662
Ensembl chrNW_004955448:6,932,926...6,984,662
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00385 NCBI chrNW_004955409:10,406,248...10,424,431
Ensembl chrNW_004955409:10,406,723...10,424,431
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00385 NCBI chrNW_004955433:16,121,795...16,145,129
Ensembl chrNW_004955433:16,122,824...16,145,113
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00385 NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00385 NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583
JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00385 NCBI chrNW_004955422:26,427,581...26,483,380
Ensembl chrNW_004955422:26,427,581...26,463,781
JBrowse link
G Nadsyn1 NAD synthetase 1 ISO SMPDB SMP:00385 NCBI chrNW_004955422:15,067,711...15,113,942
Ensembl chrNW_004955422:15,066,708...15,114,049
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00385 NCBI chrNW_004955424:14,205,689...14,215,201
Ensembl chrNW_004955424:14,205,813...14,215,156
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00385 NCBI chrNW_004955447:14,552,846...14,607,416
Ensembl chrNW_004955447:14,574,407...14,607,416
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00385 NCBI chrNW_004955532:1,093,444...1,100,591
Ensembl chrNW_004955532:1,092,125...1,100,603
JBrowse link
Huntington's disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htt huntingtin ISO RGD PMID:21163446 PMID:26938440 RGD:11062152 RGD:11062153 NCBI chrNW_004955514:1,906,189...2,042,357
Ensembl chrNW_004955514:1,906,502...2,038,889
JBrowse link
G Syne3 spectrin repeat containing nuclear envelope family member 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chrNW_004955438:17,093,612...17,178,177
Ensembl chrNW_004955438:17,094,586...17,177,216
JBrowse link
hyperargininemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00357 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00357 NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00357 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00357 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00357 NCBI chrNW_004955458:4,055,088...4,065,307
Ensembl chrNW_004955458:4,050,674...4,065,322
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00357 NCBI chrNW_004955510:5,987,811...6,021,001 JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00357 NCBI chrNW_004955433:16,121,795...16,145,129
Ensembl chrNW_004955433:16,122,824...16,145,113
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00357 NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00357 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00357 NCBI chrNW_004955424:19,474,082...19,499,592
Ensembl chrNW_004955424:19,474,082...19,499,592
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00357 NCBI chrNW_004955574:798,004...806,631 JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00357 NCBI chrNW_004955449:3,093,603...3,182,513
Ensembl chrNW_004955449:3,093,603...3,186,737
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00357 NCBI chrNW_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197
JBrowse link
hyperlysinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00527 NCBI chrNW_004955479:3,746,003...3,805,835
Ensembl chrNW_004955479:3,742,757...3,814,338
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00527 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00527 NCBI chrNW_004955521:4,365,075...4,396,105
Ensembl chrNW_004955521:4,364,638...4,396,129
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00527 NCBI chrNW_004955462:103,501...163,472
Ensembl chrNW_004955462:103,598...162,344
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00527 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00527 NCBI chrNW_004955523:660,413...680,878
Ensembl chrNW_004955523:661,738...680,802
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00527 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chrNW_004955496:1,835,034...1,861,410
Ensembl chrNW_004955496:1,835,034...1,861,407
JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00527 NCBI chrNW_004955481:4,128,503...4,225,027
Ensembl chrNW_004955481:4,128,509...4,143,334
JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00527 NCBI chrNW_004955552:2,117,972...2,141,144
Ensembl chrNW_004955552:2,117,755...2,141,231
JBrowse link
Kennedy's disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO RGD PMID:12372281 RGD:1578683 NCBI chrNW_004955475:7,013,960...7,192,473
Ensembl chrNW_004955475:7,013,960...7,186,069
JBrowse link
Krabbe disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00348 NCBI chrNW_004955495:3,247,170...3,271,417
Ensembl chrNW_004955495:3,247,083...3,271,720
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00348 NCBI chrNW_004955414:14,741,027...14,846,931
Ensembl chrNW_004955414:14,746,529...14,848,151
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00348 NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00348 NCBI chrNW_004955402:18,945,013...19,024,132
Ensembl chrNW_004955402:18,942,872...19,024,132
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00348 NCBI chrNW_004955413:30,658,472...30,693,948
Ensembl chrNW_004955413:30,660,593...30,679,674
JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00348 NCBI chrNW_004955438:21,300,118...21,313,330
Ensembl chrNW_004955438:21,300,118...21,313,330
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00348 NCBI chrNW_004955506:3,151,133...3,154,613
Ensembl chrNW_004955506:3,151,133...3,154,613
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00348 NCBI chrNW_004955455:4,771,378...4,794,085
Ensembl chrNW_004955455:4,771,346...4,784,142
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00348 NCBI chrNW_004955438:10,667,807...10,704,386
Ensembl chrNW_004955438:10,667,807...10,704,384
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00348 NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00348 NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00348 NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00348 NCBI chrNW_004955402:47,092,779...47,130,131
Ensembl chrNW_004955402:47,092,779...47,130,132
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00348 NCBI chrNW_004955414:16,783,996...16,798,368
Ensembl chrNW_004955414:16,788,171...16,798,535
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00348 NCBI chrNW_004955446:12,201,678...12,279,992
Ensembl chrNW_004955446:12,229,395...12,279,737
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00348 NCBI chrNW_004955425:5,507,905...5,819,357
Ensembl chrNW_004955425:5,784,751...5,822,488
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00348 NCBI chrNW_004955437:20,489,641...20,547,105
Ensembl chrNW_004955437:20,488,330...20,547,171
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00348 NCBI chrNW_004955453:11,244,077...11,361,990
Ensembl chrNW_004955453:11,242,647...11,359,569
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00348 NCBI chrNW_004955559:1,921,479...1,929,450
Ensembl chrNW_004955559:1,917,301...1,928,493
JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00348 NCBI chrNW_004955515:57,711...161,012
Ensembl chrNW_004955515:57,711...161,611
JBrowse link
G Sptlc2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00348 NCBI chrNW_004955438:1,385,431...1,491,534
Ensembl chrNW_004955438:1,385,431...1,491,578
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00348 NCBI chrNW_004955419:15,417,468...15,451,936
Ensembl chrNW_004955419:15,416,796...15,451,936
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00348 NCBI chrNW_004955428:24,800,854...24,864,904
Ensembl chrNW_004955428:24,800,854...24,865,378
JBrowse link
Leigh disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaca acetyl-CoA carboxylase alpha ISO SMPDB SMP:00196 NCBI chrNW_004955451:679,033...909,892
Ensembl chrNW_004955451:600,254...909,892
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00196 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00196 NCBI chrNW_004955418:28,829,316...28,872,629
Ensembl chrNW_004955418:28,829,144...28,875,486
JBrowse link
G Acss2 acyl-CoA synthetase short chain family member 2 ISO SMPDB SMP:00196 NCBI chrNW_004955422:26,450,899...26,500,336
Ensembl chrNW_004955422:26,451,598...26,500,546
JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00196 NCBI chrNW_004955523:499,508...507,809
Ensembl chrNW_004955523:499,508...508,273
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00196 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00196 NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00196 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Glo1 glyoxalase I ISO SMPDB SMP:00196 NCBI chrNW_004955437:4,728,709...4,749,834
Ensembl chrNW_004955437:4,728,709...4,749,834
JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00196 NCBI chrNW_004955419:29,032,591...29,044,046
Ensembl chrNW_004955419:29,032,600...29,044,257
JBrowse link
G Hagh hydroxyacylglutathione hydrolase ISO SMPDB SMP:00196 NCBI chrNW_004955442:15,451,910...15,465,211
Ensembl chrNW_004955442:15,451,910...15,465,211
JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00196 NCBI chrNW_004955484:2,461,545...2,466,702
Ensembl chrNW_004955484:2,460,762...2,466,702
JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00196 NCBI chrNW_004955424:20,707,765...20,723,493
Ensembl chrNW_004955424:20,706,058...20,723,493
JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00196 NCBI chrNW_004955411:10,938,580...11,084,171
Ensembl chrNW_004955411:10,938,944...11,065,085
JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00196 NCBI chrNW_004955402:35,816,474...35,894,051 JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00196 NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00196 NCBI chrNW_004955445:1,909,012...1,914,032
Ensembl chrNW_004955445:1,908,946...1,915,002
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00196 NCBI chrNW_004955586:98,492...114,927
Ensembl chrNW_004955586:97,172...114,928
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00196 NCBI chrNW_004955430:1,707,615...1,713,541
Ensembl chrNW_004955430:1,707,615...1,713,541
JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00196 NCBI chrNW_004955545:1,742,432...1,749,632
Ensembl chrNW_004955545:1,739,152...1,749,632
JBrowse link
Lesch-Nyhan syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00364 NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00364 NCBI chrNW_004955462:9,196,984...9,278,850
Ensembl chrNW_004955462:9,207,314...9,278,621
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00364 NCBI chrNW_004955413:26,067,463...26,084,669
Ensembl chrNW_004955413:26,067,516...26,088,527
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00364 NCBI chrNW_004955406:7,684,979...7,715,179
Ensembl chrNW_004955406:7,683,596...7,715,616
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00364 NCBI chrNW_004955419:799,415...807,138
Ensembl chrNW_004955419:799,410...811,029
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00364 NCBI chrNW_004955435:17,962,487...17,991,625
Ensembl chrNW_004955435:17,962,514...17,991,556
JBrowse link
G Aprt adenine phosphoribosyltransferase ISO SMPDB SMP:00364 NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906
JBrowse link
G Atad1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00364 NCBI chrNW_004955425:5,118,107...5,180,578
Ensembl chrNW_004955425:5,117,964...5,180,578
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00364 NCBI chrNW_004955457:704,213...729,702
Ensembl chrNW_004955457:704,213...730,134
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00364 NCBI chrNW_004955424:11,739,904...11,773,884
Ensembl chrNW_004955424:11,738,859...11,773,902
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00364 NCBI chrNW_004955523:1,407,812...1,441,829
Ensembl chrNW_004955523:1,421,749...1,441,829
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00364 NCBI chrNW_004955513:5,352,843...5,357,671
Ensembl chrNW_004955513:5,353,229...5,356,019
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00364 NCBI chrNW_004955407:32,944,638...32,975,142
Ensembl chrNW_004955407:32,944,164...32,973,863
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00364 NCBI chrNW_004955434:983,388...1,050,413
Ensembl chrNW_004955434:983,388...1,049,948
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00364 NCBI chrNW_004955483:9,559,079...9,608,807
Ensembl chrNW_004955483:9,559,079...9,608,953
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00364 NCBI chrNW_004955448:6,931,891...6,984,662
Ensembl chrNW_004955448:6,932,926...6,984,662
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00364 NCBI chrNW_004955412:9,218,029...9,480,333
Ensembl chrNW_004955412:9,225,305...9,480,206
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00364 NCBI chrNW_004955471:11,303,478...11,349,512
Ensembl chrNW_004955471:11,303,242...11,351,190
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00364 NCBI chrNW_004955581:299,010...305,032
Ensembl chrNW_004955581:299,280...305,032
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00364 NCBI chrNW_004955473:462,940...510,006 JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00364 NCBI chrNW_004955479:9,388,241...9,406,717
Ensembl chrNW_004955479:9,388,108...9,406,764
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00364 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00364 NCBI chrNW_004955420:24,301,079...24,306,370
Ensembl chrNW_004955420:24,301,081...24,306,493
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00364 NCBI chrNW_004955485:7,318,006...7,394,448
Ensembl chrNW_004955485:7,317,588...7,394,448
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00364 NCBI chrNW_004955472:1,760,046...1,774,539
Ensembl chrNW_004955472:1,759,900...1,774,539
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00364 NCBI chrNW_004955462:190,872...211,975
Ensembl chrNW_004955462:190,999...203,736
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00364 NCBI chrNW_004955447:14,558,468...14,571,081
Ensembl chrNW_004955447:14,558,468...14,574,052
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00364 NCBI chrNW_004955439:16,114,530...16,370,648
Ensembl chrNW_004955439:16,114,530...16,365,146
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00364 NCBI chrNW_004955446:7,914,326...9,252,527
Ensembl chrNW_004955446:8,211,877...9,252,653
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00364 NCBI chrNW_004955467:8,640,044...8,660,950
Ensembl chrNW_004955467:8,640,044...8,660,979
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00364 NCBI chrNW_004955550:1,290,816...1,299,553
Ensembl chrNW_004955550:1,290,244...1,298,068
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00364 NCBI chrNW_004955447:14,552,846...14,607,416
Ensembl chrNW_004955447:14,574,407...14,607,416
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00364 NCBI chrNW_004955410:20,987,289...20,988,852 JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00364 NCBI chrNW_004955414:19,850,523...19,904,879
Ensembl chrNW_004955414:19,850,530...19,905,266
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00364 NCBI chrNW_004955487:5,477,097...5,481,422
Ensembl chrNW_004955487:5,476,954...5,483,049
JBrowse link
maple syrup urine disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00199 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00199 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00199 NCBI chrNW_004955412:35,067,637...35,083,889
Ensembl chrNW_004955412:35,067,702...35,083,889
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00199 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00199 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00199 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00199 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00199 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00199 NCBI chrNW_004955523:1,343,545...1,369,080
Ensembl chrNW_004955523:1,343,545...1,369,073
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00199 NCBI chrNW_004955403:827,538...875,856
Ensembl chrNW_004955403:828,066...872,218
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00199 NCBI chrNW_004955515:971,778...1,124,019
Ensembl chrNW_004955515:971,800...1,123,474
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00199 NCBI chrNW_004955413:19,975,395...20,087,656
Ensembl chrNW_004955413:19,981,328...20,087,638
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00199 NCBI chrNW_004955555:334,253...357,417
Ensembl chrNW_004955555:333,642...358,799
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00199 NCBI chrNW_004955411:8,427,875...8,626,564
Ensembl chrNW_004955411:8,437,548...8,628,363
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00199 NCBI chrNW_004955435:4,975,664...5,005,126
Ensembl chrNW_004955435:4,973,830...5,017,816
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00199 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00199 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00199 NCBI chrNW_004955410:29,180,411...29,294,273
Ensembl chrNW_004955410:29,180,184...29,294,315
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00199 NCBI chrNW_004955403:8,752,339...8,796,693
Ensembl chrNW_004955403:8,752,309...8,792,927
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00199 NCBI chrNW_004955452:3,720,103...3,734,730
Ensembl chrNW_004955452:3,720,103...3,735,192
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00199 NCBI chrNW_004955435:22,804,484...22,820,807
Ensembl chrNW_004955435:22,804,484...22,821,482
JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00199 NCBI chrNW_004955475:478,690...481,029
Ensembl chrNW_004955475:478,690...481,029
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00199 NCBI chrNW_004955416:7,327,557...7,341,533
Ensembl chrNW_004955416:7,327,557...7,346,027
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00199 NCBI chrNW_004955420:11,781,662...11,828,060
Ensembl chrNW_004955420:11,781,104...11,820,338
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00199 NCBI chrNW_004955575:445,627...503,891
Ensembl chrNW_004955575:445,619...505,040
JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00199 NCBI chrNW_004955416:29,684,557...29,703,495
Ensembl chrNW_004955416:29,685,385...29,698,557
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00199 NCBI chrNW_004955411:8,363,142...8,397,839
Ensembl chrNW_004955411:8,363,142...8,399,216
JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00199 NCBI chrNW_004955426:25,885,518...25,998,187
Ensembl chrNW_004955426:25,885,518...26,003,743
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00199 NCBI chrNW_004955404:10,317,640...10,719,148
Ensembl chrNW_004955404:10,317,640...10,661,496
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00199 NCBI chrNW_004955501:2,474,330...2,563,107
Ensembl chrNW_004955501:2,474,330...2,563,837
JBrowse link
metachromatic leukodystrophy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00347 NCBI chrNW_004955495:3,247,170...3,271,417
Ensembl chrNW_004955495:3,247,083...3,271,720
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00347 NCBI chrNW_004955414:14,741,027...14,846,931
Ensembl chrNW_004955414:14,746,529...14,848,151
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00347 NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00347 NCBI chrNW_004955402:18,945,013...19,024,132
Ensembl chrNW_004955402:18,942,872...19,024,132
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00347 NCBI chrNW_004955413:30,658,472...30,693,948
Ensembl chrNW_004955413:30,660,593...30,679,674
JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00347 NCBI chrNW_004955438:21,300,118...21,313,330
Ensembl chrNW_004955438:21,300,118...21,313,330
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00347 NCBI chrNW_004955506:3,151,133...3,154,613
Ensembl chrNW_004955506:3,151,133...3,154,613
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00347 NCBI chrNW_004955455:4,771,378...4,794,085
Ensembl chrNW_004955455:4,771,346...4,784,142
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00347 NCBI chrNW_004955438:10,667,807...10,704,386
Ensembl chrNW_004955438:10,667,807...10,704,384
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00347 NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00347 NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00347 NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00347 NCBI chrNW_004955402:47,092,779...47,130,131
Ensembl chrNW_004955402:47,092,779...47,130,132
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00347 NCBI chrNW_004955414:16,783,996...16,798,368
Ensembl chrNW_004955414:16,788,171...16,798,535
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00347 NCBI chrNW_004955446:12,201,678...12,279,992
Ensembl chrNW_004955446:12,229,395...12,279,737
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00347 NCBI chrNW_004955425:5,507,905...5,819,357
Ensembl chrNW_004955425:5,784,751...5,822,488
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00347 NCBI chrNW_004955437:20,489,641...20,547,105
Ensembl chrNW_004955437:20,488,330...20,547,171
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00347 NCBI chrNW_004955453:11,244,077...11,361,990
Ensembl chrNW_004955453:11,242,647...11,359,569
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00347 NCBI chrNW_004955559:1,921,479...1,929,450
Ensembl chrNW_004955559:1,917,301...1,928,493
JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00347 NCBI chrNW_004955515:57,711...161,012
Ensembl chrNW_004955515:57,711...161,611
JBrowse link
G Sptlc2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00347 NCBI chrNW_004955438:1,385,431...1,491,534
Ensembl chrNW_004955438:1,385,431...1,491,578
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00347 NCBI chrNW_004955419:15,417,468...15,451,936
Ensembl chrNW_004955419:15,416,796...15,451,936
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00347 NCBI chrNW_004955428:24,800,854...24,864,904
Ensembl chrNW_004955428:24,800,854...24,865,378
JBrowse link
methylenetetrahydrofolate reductase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO SMPDB SMP:00340 NCBI chrNW_004955422:26,992,295...27,013,100
Ensembl chrNW_004955422:26,992,295...27,013,100
JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00340 NCBI chrNW_004955411:35,541,517...35,563,209
Ensembl chrNW_004955411:35,541,517...35,563,209
JBrowse link
G Bhmt betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00340 NCBI chrNW_004955425:21,992,219...22,009,389
Ensembl chrNW_004955425:21,991,665...22,009,855
JBrowse link
G Cbs cystathionine beta-synthase ISO SMPDB SMP:00340 NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790
JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00340 NCBI chrNW_004955430:3,797,924...3,831,326
Ensembl chrNW_004955430:3,799,970...3,805,474
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00340 NCBI chrNW_004955423:21,542,587...21,567,935
Ensembl chrNW_004955423:21,542,179...21,567,786
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00340 NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00340 NCBI chrNW_004955559:1,012,634...1,047,051
Ensembl chrNW_004955559:1,034,917...1,047,034
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00340 NCBI chrNW_004955458:5,215,853...5,233,037
Ensembl chrNW_004955458:5,215,853...5,233,037
JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00340 NCBI chrNW_004955424:1,953,623...1,961,164
Ensembl chrNW_004955424:1,953,623...1,961,164
JBrowse link
G Mat2b methionine adenosyltransferase 2 non-catalytic beta subunit ISO SMPDB SMP:00340 NCBI chrNW_004955408:16,910,414...16,924,663 JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00340 NCBI chrNW_004955429:5,867,091...5,887,460
Ensembl chrNW_004955429:5,867,091...5,887,587
JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00340 NCBI chrNW_004955458:12,004,928...12,159,625
Ensembl chrNW_004955458:12,004,806...12,159,954
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00340 NCBI chrNW_004955472:12,391,399...12,439,221
Ensembl chrNW_004955472:12,390,032...12,439,206
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00340 NCBI chrNW_004955450:10,399,472...10,415,813
Ensembl chrNW_004955450:10,399,470...10,415,872
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00340 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00340 NCBI chrNW_004955492:3,372,915...3,474,173
Ensembl chrNW_004955492:3,376,512...3,474,180
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00340 NCBI chrNW_004955478:10,972,791...11,001,535
Ensembl chrNW_004955478:10,978,139...11,001,202
JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00340 NCBI chrNW_004955486:2,631,579...2,634,779
Ensembl chrNW_004955486:2,631,586...2,634,527
JBrowse link
mevalonic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955439:21,123,886...21,142,562
Ensembl chrNW_004955439:21,122,923...21,142,480
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955464:4,533,928...4,557,893
Ensembl chrNW_004955464:4,533,928...4,558,133
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370
JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955403:53,068,011...53,081,499
Ensembl chrNW_004955403:53,067,637...53,081,499
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955545:1,757,090...1,765,028
Ensembl chrNW_004955545:1,757,418...1,765,028
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955492:4,582,998...4,593,194
Ensembl chrNW_004955492:4,583,633...4,589,144
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955446:18,978,261...18,996,794
Ensembl chrNW_004955446:18,978,102...18,998,951
JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955462:13,555,488...13,574,506
Ensembl chrNW_004955462:13,557,292...13,574,593
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
JBrowse link
G LOC102027002 lanosterol 14-alpha demethylase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955432:9,092,923...9,112,615
Ensembl chrNW_004955432:9,092,933...9,112,615
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955407:42,633,658...42,653,399
Ensembl chrNW_004955407:42,633,658...42,653,399
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955403:39,991,528...40,009,047
Ensembl chrNW_004955403:39,989,409...40,009,890
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955541:2,578,584...2,581,823
Ensembl chrNW_004955541:2,579,074...2,581,821
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955455:8,933,250...8,953,883
Ensembl chrNW_004955455:8,930,125...8,953,894
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955545:1,421,562...1,440,038
Ensembl chrNW_004955545:1,421,562...1,440,038
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955412:22,274,131...22,288,870
Ensembl chrNW_004955412:22,274,250...22,288,870
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955406:18,644,351...18,708,666
Ensembl chrNW_004955406:18,655,894...18,706,891
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955461:121,886...143,389
Ensembl chrNW_004955461:122,528...143,064
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004955422:20,086,994...20,091,707
Ensembl chrNW_004955422:20,086,994...20,091,707
JBrowse link
nonketotic hyperglycinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955542:710,506...720,564
Ensembl chrNW_004955542:710,005...717,741
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955532:3,810,469...3,823,456
Ensembl chrNW_004955532:3,810,464...3,823,456
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955532:1,351,743...1,358,220
Ensembl chrNW_004955532:1,351,743...1,358,220
JBrowse link
G Bhmt betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955425:21,992,219...22,009,389
Ensembl chrNW_004955425:21,991,665...22,009,855
JBrowse link
G Cbs cystathionine beta-synthase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955423:21,542,587...21,567,935
Ensembl chrNW_004955423:21,542,179...21,567,786
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955425:22,045,977...22,103,381
Ensembl chrNW_004955425:22,045,993...22,102,852
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955495:6,536,541...6,539,424
Ensembl chrNW_004955495:6,536,544...6,539,424
JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955410:31,778,654...31,819,287
Ensembl chrNW_004955410:31,779,543...31,819,113
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603
JBrowse link
G Gcat glycine C-acetyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955413:24,184,997...24,192,178
Ensembl chrNW_004955413:24,184,997...24,192,229
JBrowse link
G Gldc glycine decarboxylase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955434:10,431,434...10,533,118
Ensembl chrNW_004955434:10,431,983...10,533,002
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955532:3,933,964...3,939,858
Ensembl chrNW_004955532:3,936,160...3,942,868
JBrowse link
G Gnmt glycine N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955437:8,944,288...8,946,642
Ensembl chrNW_004955437:8,944,047...8,946,642
JBrowse link
G Maoa amine oxidase [flavin-containing] A ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955435:22,757,473...22,803,123
Ensembl chrNW_004955435:22,757,454...22,803,123
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955512:1,132,452...1,155,405
Ensembl chrNW_004955512:1,132,390...1,155,412
JBrowse link
G Psph phosphoserine phosphatase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955456:8,198,739...8,212,111
Ensembl chrNW_004955456:8,198,739...8,212,025
JBrowse link
G Sardh sarcosine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955513:2,933,918...2,975,645
Ensembl chrNW_004955513:2,933,918...2,976,931
JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955435:12,642,485...12,659,833
Ensembl chrNW_004955435:12,641,776...12,660,682
JBrowse link
G Sds serine dehydratase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955482:9,646,523...9,653,471
Ensembl chrNW_004955482:9,643,919...9,653,375
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955478:10,972,791...11,001,535
Ensembl chrNW_004955478:10,978,139...11,001,202
JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955458:4,957,614...4,962,691
Ensembl chrNW_004955458:4,957,602...4,962,691
JBrowse link
G Srr serine racemase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004955481:919,692...940,066
Ensembl chrNW_004955481:871,654...937,770
JBrowse link
ornithine translocase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00506 NCBI chrNW_004955527:338,593...369,528
Ensembl chrNW_004955527:338,593...372,872
JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00506 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00506 NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00506 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00506 NCBI chrNW_004955538:2,379,868...2,380,771 JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00506 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Dao D-amino acid oxidase ISO SMPDB SMP:00506 NCBI chrNW_004955455:10,095,597...10,127,244
Ensembl chrNW_004955455:10,095,300...10,127,666
JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00506 NCBI chrNW_004955520:3,550,558...3,606,015
Ensembl chrNW_004955520:3,550,558...3,606,697
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00506 NCBI chrNW_004955495:6,536,541...6,539,424
Ensembl chrNW_004955495:6,536,544...6,539,424
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00506 NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00506 NCBI chrNW_004955510:5,987,811...6,021,001 JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00506 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00506 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00506 NCBI chrNW_004955477:2,430,146...2,450,135
Ensembl chrNW_004955477:2,429,776...2,450,624
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00506 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00506 NCBI chrNW_004955414:17,344,512...17,376,564
Ensembl chrNW_004955414:17,344,509...17,376,564
JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00506 NCBI chrNW_004955489:138,600...143,112
Ensembl chrNW_004955489:138,600...143,112
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00506 NCBI chrNW_004955411:14,470,479...14,527,895
Ensembl chrNW_004955411:14,470,479...14,527,895
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00506 NCBI chrNW_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197
JBrowse link
Parkinson's disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp13a2 ATPase cation transporting 13A2 ISO RGD PMID:26223426 RGD:10450518 NCBI chrNW_004955527:1,805,854...1,823,623
Ensembl chrNW_004955527:1,806,009...1,823,344
JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO RGD PMID:25701813 RGD:10450845 NCBI chrNW_004955501:5,980,407...6,111,424
Ensembl chrNW_004955501:5,976,182...6,093,384
JBrowse link
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO RGD PMID:25302295 PMID:25639775 RGD:10450521 RGD:10450553 NCBI chrNW_004955423:25,269,459...25,382,664
Ensembl chrNW_004955423:25,269,466...25,377,641
JBrowse link
G Fbxo7 F-box protein 7 ISO RGD PMID:26223426 RGD:10450518 NCBI chrNW_004955405:41,429,421...41,449,670
Ensembl chrNW_004955405:41,433,082...41,453,909
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO RGD PMID:25639775 PMID:26223426 RGD:10450518 RGD:10450521 NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
JBrowse link
G Lrrk2 leucine rich repeat kinase 2 ISO RGD PMID:25639775 PMID:26223426 RGD:10450518 RGD:10450521 NCBI chrNW_004955505:84,324...216,923
Ensembl chrNW_004955505:81,796...216,923
JBrowse link
G Maob monoamine oxidase B ISO RGD PMID:9129714 RGD:1358484 NCBI chrNW_004955516:4,328,286...4,473,419
Ensembl chrNW_004955516:4,328,476...4,472,593
JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:11809160 RGD:1358519 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
JBrowse link
G Nr4a2 nuclear receptor subfamily 4 group A member 2 ISO RGD PMID:11914402 RGD:1358553 NCBI chrNW_004955449:16,928,780...16,944,536
Ensembl chrNW_004955449:16,937,794...16,945,731
JBrowse link
G Park7 Parkinsonism associated deglycase ISO RGD PMID:23766857 RGD:10450523 NCBI chrNW_004955486:4,974,130...4,985,927
Ensembl chrNW_004955486:4,969,497...4,985,885
JBrowse link
G Pink1 PTEN induced kinase 1 ISO RGD PMID:24735649 PMID:25639775 PMID:26223426 RGD:10450518 RGD:10450521 RGD:10450527 NCBI chrNW_004955452:1,171,115...1,186,338
Ensembl chrNW_004955452:1,171,205...1,185,125
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:14556719 PMID:24735649 PMID:25639775 PMID:26223426 RGD:10450518 RGD:10450521 RGD:10450527 RGD:1302872 NCBI chrNW_004955439:18,664,230...19,953,358
Ensembl chrNW_004955439:18,664,379...19,951,152
JBrowse link
G Snca synuclein alpha ISO RGD PMID:12122208 PMID:25639775 PMID:26223426 PMID:26501339 RGD:10450517 RGD:10450518 RGD:10450521 RGD:730239 NCBI chrNW_004955405:854,011...962,741
Ensembl chrNW_004955405:853,946...965,403
JBrowse link
G Synj1 synaptojanin 1 ISO RGD PMID:25302295 PMID:25639775 RGD:10450521 RGD:10450553 NCBI chrNW_004955407:32,094,076...32,175,676
Ensembl chrNW_004955407:32,093,479...32,175,795
JBrowse link
G Vps35 VPS35 retromer complex component ISO RGD PMID:25619244 PMID:25639775 PMID:25701813 PMID:26223426 RGD:10450518 RGD:10450521 RGD:10450542 RGD:10450845 NCBI chrNW_004955448:207,582...240,264
Ensembl chrNW_004955448:204,991...240,160
JBrowse link
phenylketonuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00206 NCBI chrNW_004955533:904,294...921,730
Ensembl chrNW_004955533:904,295...921,730
JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00206 NCBI chrNW_004955415:31,972,888...31,981,424
Ensembl chrNW_004955415:31,968,980...31,981,424
JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00206 NCBI chrNW_004955453:11,176,481...11,237,243
Ensembl chrNW_004955453:11,176,432...11,240,780
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00206 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00206 NCBI chrNW_004955438:1,218,990...1,231,407
Ensembl chrNW_004955438:1,219,018...1,231,287
JBrowse link
G Hgd homogentisate 1,2-dioxygenase ISO SMPDB SMP:00206 NCBI chrNW_004955427:20,141,522...20,188,700
Ensembl chrNW_004955427:20,137,861...20,188,700
JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00206 NCBI chrNW_004955482:6,586,975...6,595,034
Ensembl chrNW_004955482:6,586,975...6,595,034
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00206 NCBI chrNW_004955559:1,012,634...1,047,051
Ensembl chrNW_004955559:1,034,917...1,047,034
JBrowse link
G Pah phenylalanine hydroxylase ISO SMPDB SMP:00206 NCBI chrNW_004955405:37,848,486...37,909,163
Ensembl chrNW_004955405:37,846,354...37,909,457
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00206 NCBI chrNW_004955484:4,278,083...4,287,535
Ensembl chrNW_004955484:4,276,953...4,287,627
JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00206 NCBI chrNW_004955452:11,046,047...11,078,016
Ensembl chrNW_004955452:11,046,047...11,078,016
JBrowse link
Refsum disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO SMPDB SMP:00451 NCBI chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00451 NCBI chrNW_004955505:717,800...769,702
Ensembl chrNW_004955505:721,222...798,470
JBrowse link
G Aldh3a2 aldehyde dehydrogenase 3 family member A2 ISO SMPDB SMP:00451 NCBI chrNW_004955467:141,592...162,376
Ensembl chrNW_004955467:140,760...162,742
JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO SMPDB SMP:00451 NCBI chrNW_004955430:2,055,774...2,096,260
Ensembl chrNW_004955430:2,053,640...2,096,432
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO SMPDB SMP:00451 NCBI chrNW_004955462:1,238,622...1,250,731
Ensembl chrNW_004955462:1,238,622...1,250,736
JBrowse link
G Slc27a2 solute carrier family 27 member 2 ISO SMPDB SMP:00451 NCBI chrNW_004955409:4,077,685...4,112,828
Ensembl chrNW_004955409:4,077,149...4,112,828
JBrowse link
retinitis pigmentosa pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955423:612,098...738,702
Ensembl chrNW_004955423:612,098...736,035
JBrowse link
G Best1 bestrophin 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955511:5,773,025...5,783,800
Ensembl chrNW_004955511:5,773,670...5,780,540
JBrowse link
G Cdh23 cadherin related 23 ISO RGD PMID:20212494 RGD:8547536 NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819
JBrowse link
G Clrn1 clarin 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955448:2,062,647...2,106,548
Ensembl chrNW_004955448:2,062,647...2,106,548
JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955443:615,061...649,693
Ensembl chrNW_004955443:639,096...649,606
JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955433:15,467,042...15,556,471 JBrowse link
G Crx cone-rod homeobox ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955574:1,544,917...1,548,912
Ensembl chrNW_004955574:1,544,917...1,548,912
JBrowse link
G Guca1b guanylate cyclase activator 1B ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955437:8,384,692...8,390,946
Ensembl chrNW_004955437:8,382,299...8,390,946
JBrowse link
G Lrat lecithin retinol acyltransferase ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955471:2,603,395...2,610,988
Ensembl chrNW_004955471:2,603,678...2,609,079
JBrowse link
G Myo7a myosin VIIA ISO RGD PMID:20212494 RGD:8547536 NCBI chrNW_004955414:14,576,356...14,647,500
Ensembl chrNW_004955414:14,576,356...14,647,500
JBrowse link
G Nr2e3 nuclear receptor subfamily 2 group E member 3 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955450:5,281,707...5,286,260
Ensembl chrNW_004955450:5,281,707...5,286,260
JBrowse link
G Pcdh15 protocadherin related 15 ISO RGD PMID:20212494 RGD:8547536 NCBI chrNW_004955425:8,443,523...9,203,177
Ensembl chrNW_004955425:8,428,680...8,899,028
JBrowse link
G Pde6a phosphodiesterase 6A ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955415:4,556,636...4,637,070
Ensembl chrNW_004955415:4,566,271...4,637,070
JBrowse link
G Pde6b phosphodiesterase 6B ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955514:234,972...279,420
Ensembl chrNW_004955514:234,972...279,420
JBrowse link
G Pde6g phosphodiesterase 6G ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955506:1,437,645...1,441,758
Ensembl chrNW_004955506:1,437,645...1,441,750
JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955604:125,489...136,209
Ensembl chrNW_004955604:124,686...136,901
JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955481:1,499,634...1,530,670
Ensembl chrNW_004955481:1,499,634...1,530,670
JBrowse link
G Prph2 peripherin 2 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955437:8,784,211...8,794,789
Ensembl chrNW_004955437:8,782,183...8,795,017
JBrowse link
G Rbp3 retinol binding protein 3 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955556:2,217,528...2,225,369
Ensembl chrNW_004955556:2,217,440...2,225,501
JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955466:2,473,145...2,485,779
Ensembl chrNW_004955466:2,473,096...2,487,623
JBrowse link
G Rho rhodopsin ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955429:17,787,337...17,791,982
Ensembl chrNW_004955429:17,787,337...17,791,982
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955416:15,862,510...15,873,261
Ensembl chrNW_004955416:15,862,426...15,873,327
JBrowse link
G Rp1 RP1 axonemal microtubule associated ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955454:13,781,556...14,082,310 JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955423:23,184,326...23,208,206
Ensembl chrNW_004955423:23,183,937...23,208,282
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955601:398,772...453,271 JBrowse link
G Sag S-antigen visual arrestin ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955453:2,845,561...2,878,342
Ensembl chrNW_004955453:2,844,925...2,878,846
JBrowse link
G Tulp1 TUB like protein 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955437:3,405,218...3,417,079 JBrowse link
G Ush1c USH1 protein network component harmonin ISO RGD PMID:20212494 RGD:8547536 NCBI chrNW_004955414:32,303,045...32,351,401
Ensembl chrNW_004955414:32,298,759...32,351,505
JBrowse link
G Ush1g USH1 protein network component sans ISO RGD PMID:20212494 RGD:8547536 NCBI chrNW_004955553:1,788,443...1,795,139
Ensembl chrNW_004955553:1,788,401...1,796,441
JBrowse link
G Ush2a usherin ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004955406:1,837,831...2,499,664
Ensembl chrNW_004955406:1,838,885...2,496,980
JBrowse link
saccharopinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955479:3,746,003...3,805,835
Ensembl chrNW_004955479:3,742,757...3,814,338
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955521:4,365,075...4,396,105
Ensembl chrNW_004955521:4,364,638...4,396,129
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955462:103,501...163,472
Ensembl chrNW_004955462:103,598...162,344
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955523:660,413...680,878
Ensembl chrNW_004955523:661,738...680,802
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955496:1,835,034...1,861,410
Ensembl chrNW_004955496:1,835,034...1,861,407
JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955481:4,128,503...4,225,027
Ensembl chrNW_004955481:4,128,509...4,143,334
JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004955552:2,117,972...2,141,144
Ensembl chrNW_004955552:2,117,755...2,141,231
JBrowse link
Segawa syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbr1 carbonyl reductase 1 ISO SMPDB SMP:00490 NCBI chrNW_004955407:35,351,601...35,354,510 JBrowse link
G Dhfr dihydrofolate reductase ISO SMPDB SMP:00490 NCBI chrNW_004955418:29,274,170...29,283,028 JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO SMPDB SMP:00490 NCBI chrNW_004955409:8,624,225...8,670,436
Ensembl chrNW_004955409:8,624,468...8,668,614
JBrowse link
G Gchfr GTP cyclohydrolase I feedback regulator ISO SMPDB SMP:00490 NCBI chrNW_004955416:7,617,333...7,620,455
Ensembl chrNW_004955416:7,617,333...7,620,455
JBrowse link
G Pts 6-pyruvoyltetrahydropterin synthase ISO SMPDB SMP:00490 NCBI chrNW_004955412:13,880,937...13,888,562
Ensembl chrNW_004955412:13,880,937...13,888,562
JBrowse link
G Qdpr quinoid dihydropteridine reductase ISO SMPDB SMP:00490 NCBI chrNW_004955480:6,646,088...6,666,866
Ensembl chrNW_004955480:6,646,088...6,669,526
JBrowse link
G Spr sepiapterin reductase ISO SMPDB SMP:00490 NCBI chrNW_004955424:12,711,064...12,716,000
Ensembl chrNW_004955424:12,711,064...12,716,000
JBrowse link
sialic acid storage disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amdhd2 amidohydrolase domain containing 2 ISO SMPDB SMP:00240 NCBI chrNW_004955442:14,775,528...14,791,650
Ensembl chrNW_004955442:14,782,755...14,791,649
JBrowse link
G Chit1 chitinase 1 ISO SMPDB SMP:00240 NCBI chrNW_004955406:39,229,161...39,253,328
Ensembl chrNW_004955406:39,229,356...39,241,540
JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00240 NCBI chrNW_004955413:17,575,469...17,596,379
Ensembl chrNW_004955413:17,575,469...17,599,859
JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00240 NCBI chrNW_004955424:15,692,088...15,739,894
Ensembl chrNW_004955424:15,692,088...15,739,894
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00240 NCBI chrNW_004955472:56,623...92,553
Ensembl chrNW_004955472:45,926...97,082
JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00240 NCBI chrNW_004955415:11,770,111...11,783,430
Ensembl chrNW_004955415:11,770,063...11,784,188
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00240 NCBI chrNW_004955409:10,406,248...10,424,431
Ensembl chrNW_004955409:10,406,723...10,424,431
JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00240 NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00240 NCBI chrNW_004955437:21,733,314...21,824,303
Ensembl chrNW_004955437:21,731,584...21,816,324
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00240 NCBI chrNW_004955424:14,205,689...14,215,201
Ensembl chrNW_004955424:14,205,813...14,215,156
JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00240 NCBI chrNW_004955415:31,453,393...31,460,147
Ensembl chrNW_004955415:31,453,393...31,460,386
JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00240 NCBI chrNW_004955419:27,424,648...27,449,058
Ensembl chrNW_004955419:27,424,674...27,448,952
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00240 NCBI chrNW_004955406:21,633,979...21,670,279
Ensembl chrNW_004955406:21,633,032...21,670,958
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00240 NCBI chrNW_004955411:10,904,022...10,925,613
Ensembl chrNW_004955411:10,904,022...10,924,216
JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00240 NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027
JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO SMPDB SMP:00240 NCBI chrNW_004955493:8,693,933...8,719,250
Ensembl chrNW_004955493:8,693,679...8,719,250
JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00240 NCBI chrNW_004955462:13,765,197...13,799,937
Ensembl chrNW_004955462:13,760,693...13,800,417
JBrowse link
Tay-Sachs disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amdhd2 amidohydrolase domain containing 2 ISO SMPDB SMP:00390 NCBI chrNW_004955442:14,775,528...14,791,650
Ensembl chrNW_004955442:14,782,755...14,791,649
JBrowse link
G Chit1 chitinase 1 ISO SMPDB SMP:00390 NCBI chrNW_004955406:39,229,161...39,253,328
Ensembl chrNW_004955406:39,229,356...39,241,540
JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00390 NCBI chrNW_004955413:17,575,469...17,596,379
Ensembl chrNW_004955413:17,575,469...17,599,859
JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00390 NCBI chrNW_004955424:15,692,088...15,739,894
Ensembl chrNW_004955424:15,692,088...15,739,894
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00390 NCBI chrNW_004955472:56,623...92,553
Ensembl chrNW_004955472:45,926...97,082
JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00390 NCBI chrNW_004955415:11,770,111...11,783,430
Ensembl chrNW_004955415:11,770,063...11,784,188
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00390 NCBI chrNW_004955409:10,406,248...10,424,431
Ensembl chrNW_004955409:10,406,723...10,424,431
JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00390 NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00390 NCBI chrNW_004955437:21,733,314...21,824,303
Ensembl chrNW_004955437:21,731,584...21,816,324
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00390 NCBI chrNW_004955424:14,205,689...14,215,201
Ensembl chrNW_004955424:14,205,813...14,215,156
JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00390 NCBI chrNW_004955415:31,453,393...31,460,147
Ensembl chrNW_004955415:31,453,393...31,460,386
JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00390 NCBI chrNW_004955419:27,424,648...27,449,058
Ensembl chrNW_004955419:27,424,674...27,448,952
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00390 NCBI chrNW_004955406:21,633,979...21,670,279
Ensembl chrNW_004955406:21,633,032...21,670,958
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00390 NCBI chrNW_004955411:10,904,022...10,925,613
Ensembl chrNW_004955411:10,904,022...10,924,216
JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00390 NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027
JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO SMPDB SMP:00390 NCBI chrNW_004955493:8,693,933...8,719,250
Ensembl chrNW_004955493:8,693,679...8,719,250
JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00390 NCBI chrNW_004955462:13,765,197...13,799,937
Ensembl chrNW_004955462:13,760,693...13,800,417
JBrowse link
tyrosinemia type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00218 NCBI chrNW_004955467:96,140...105,738
Ensembl chrNW_004955467:96,140...105,738
JBrowse link
G Aoc1 amine oxidase copper containing 1 ISO SMPDB SMP:00218 NCBI chrNW_004955491:5,316,482...5,326,262
Ensembl chrNW_004955491:5,316,476...5,326,305
JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00218 NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412
JBrowse link
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00218 NCBI chrNW_004955513:2,918,085...2,932,481
Ensembl chrNW_004955513:2,918,286...2,932,247
JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00218 NCBI chrNW_004955404:15,359,402...15,395,556
Ensembl chrNW_004955404:15,359,402...15,395,535
JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00218 NCBI chrNW_004955456:3,513,779...3,582,851
Ensembl chrNW_004955456:3,513,042...3,582,911
JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00218 NCBI chrNW_004955533:904,294...921,730
Ensembl chrNW_004955533:904,295...921,730
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00218 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00218 NCBI chrNW_004955438:1,218,990...1,231,407
Ensembl chrNW_004955438:1,219,018...1,231,287
JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00218 NCBI chrNW_004955441:10,114,863...10,128,948
Ensembl chrNW_004955441:10,110,380...10,129,015
JBrowse link
G Hgd homogentisate 1,2-dioxygenase ISO SMPDB SMP:00218 NCBI chrNW_004955427:20,141,522...20,188,700
Ensembl chrNW_004955427:20,137,861...20,188,700
JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00218 NCBI chrNW_004955482:6,586,975...6,595,034
Ensembl chrNW_004955482:6,586,975...6,595,034
JBrowse link
G Maoa amine oxidase [flavin-containing] A ISO SMPDB SMP:00218 NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317
JBrowse link
G Mif macrophage migration inhibitory factor ISO SMPDB SMP:00218 NCBI chrNW_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460
JBrowse link
G Pnmt phenylethanolamine N-methyltransferase ISO SMPDB SMP:00218 NCBI chrNW_004955451:14,414,836...14,417,972
Ensembl chrNW_004955451:14,416,121...14,417,901
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00218 NCBI chrNW_004955484:4,278,083...4,287,535
Ensembl chrNW_004955484:4,276,953...4,287,627
JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00218 NCBI chrNW_004955414:4,244,035...4,314,001
Ensembl chrNW_004955414:4,244,035...4,314,001
JBrowse link
tyrosinemia type II pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00369 NCBI chrNW_004955533:904,294...921,730
Ensembl chrNW_004955533:904,295...921,730
JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00369 NCBI chrNW_004955415:31,972,888...31,981,424
Ensembl chrNW_004955415:31,968,980...31,981,424
JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00369 NCBI chrNW_004955453:11,176,481...11,237,243
Ensembl chrNW_004955453:11,176,432...11,240,780
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00369 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00369 NCBI chrNW_004955438:1,218,990...1,231,407
Ensembl chrNW_004955438:1,219,018...1,231,287
JBrowse link
G Hgd homogentisate 1,2-dioxygenase ISO SMPDB SMP:00369 NCBI chrNW_004955427:20,141,522...20,188,700
Ensembl chrNW_004955427:20,137,861...20,188,700
JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00369 NCBI chrNW_004955482:6,586,975...6,595,034
Ensembl chrNW_004955482:6,586,975...6,595,034
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00369 NCBI chrNW_004955559:1,012,634...1,047,051
Ensembl chrNW_004955559:1,034,917...1,047,034
JBrowse link
G Pah phenylalanine hydroxylase ISO SMPDB SMP:00369 NCBI chrNW_004955405:37,848,486...37,909,163
Ensembl chrNW_004955405:37,846,354...37,909,457
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00369 NCBI chrNW_004955484:4,278,083...4,287,535
Ensembl chrNW_004955484:4,276,953...4,287,627
JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00369 NCBI chrNW_004955452:11,046,047...11,078,016
Ensembl chrNW_004955452:11,046,047...11,078,016
JBrowse link
tyrosinemia type III pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 ISO SMPDB SMP:00434 NCBI chrNW_004955432:4,911,774...5,085,349 JBrowse link
G Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) ISO SMPDB SMP:00434 NCBI chrNW_004955442:729,322...858,826
Ensembl chrNW_004955442:729,316...860,290
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO SMPDB SMP:00434 NCBI chrNW_004955507:5,724,788...5,791,281
Ensembl chrNW_004955507:5,724,762...5,790,812
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) ISO SMPDB SMP:00434 NCBI chrNW_004955474:12,365,903...12,408,715 JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00370 NCBI chrNW_004955533:904,294...921,730
Ensembl chrNW_004955533:904,295...921,730
JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00370 NCBI chrNW_004955415:31,972,888...31,981,424
Ensembl chrNW_004955415:31,968,980...31,981,424
JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00370 NCBI chrNW_004955453:11,176,481...11,237,243
Ensembl chrNW_004955453:11,176,432...11,240,780
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00370 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00370 NCBI chrNW_004955438:1,218,990...1,231,407
Ensembl chrNW_004955438:1,219,018...1,231,287
JBrowse link
G Hgd homogentisate 1,2-dioxygenase ISO SMPDB SMP:00370 NCBI chrNW_004955427:20,141,522...20,188,700
Ensembl chrNW_004955427:20,137,861...20,188,700
JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00370 NCBI chrNW_004955482:6,586,975...6,595,034
Ensembl chrNW_004955482:6,586,975...6,595,034
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00370 NCBI chrNW_004955559:1,012,634...1,047,051
Ensembl chrNW_004955559:1,034,917...1,047,034
JBrowse link
G Pah phenylalanine hydroxylase ISO SMPDB SMP:00370 NCBI chrNW_004955405:37,848,486...37,909,163
Ensembl chrNW_004955405:37,846,354...37,909,457
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00370 NCBI chrNW_004955484:4,278,083...4,287,535
Ensembl chrNW_004955484:4,276,953...4,287,627
JBrowse link
G Tubb1 tubulin beta 1 class VI ISO SMPDB SMP:00434 NCBI chrNW_004955445:569,504...576,129
Ensembl chrNW_004955445:569,504...576,345
JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00370 NCBI chrNW_004955452:11,046,047...11,078,016
Ensembl chrNW_004955452:11,046,047...11,078,016
JBrowse link
Zellweger syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO SMPDB SMP:00316 NCBI chrNW_004955430:1,638,931...1,665,308
Ensembl chrNW_004955430:1,638,431...1,665,141
JBrowse link
G Akr1d1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00316 NCBI chrNW_004955494:4,799,706...4,856,100
Ensembl chrNW_004955494:4,799,450...4,854,696
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00316 NCBI chrNW_004955426:19,570,179...19,580,920
Ensembl chrNW_004955426:19,570,070...19,580,818
JBrowse link
G Baat bile acid-CoA:amino acid N-acyltransferase ISO SMPDB SMP:00316 NCBI chrNW_004955419:24,469,213...24,521,728
Ensembl chrNW_004955419:24,443,172...24,520,467
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00316 NCBI chrNW_004955425:3,763,302...3,764,432 JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00316 NCBI chrNW_004955408:39,041,028...39,136,867
Ensembl chrNW_004955408:39,040,840...39,138,338
JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00316 NCBI chrNW_004955493:7,835,160...7,838,428
Ensembl chrNW_004955493:7,835,160...7,838,428
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00316 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
JBrowse link
G LOC102004889 sterol 26-hydroxylase, mitochondrial ISO SMPDB SMP:00316 NCBI chrNW_004955453:14,601,495...14,647,383
Ensembl chrNW_004955453:14,601,444...14,647,366
JBrowse link
G LOC102006164 24-hydroxycholesterol 7-alpha-hydroxylase ISO SMPDB SMP:00316 NCBI chrNW_004955437:11,444,780...11,497,268
Ensembl chrNW_004955437:11,444,220...11,497,084
JBrowse link
G LOC102008593 cholesterol 7-alpha-monooxygenase ISO SMPDB SMP:00316 NCBI chrNW_004955454:17,035,105...17,078,854
Ensembl chrNW_004955454:17,036,204...17,042,756
JBrowse link
G LOC102019604 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase ISO SMPDB SMP:00316 NCBI chrNW_004955420:27,988,067...27,990,637 JBrowse link
G LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase ISO SMPDB SMP:00316 NCBI chrNW_004955444:14,274,818...14,446,068
Ensembl chrNW_004955444:14,275,345...14,444,426
JBrowse link
G LOC102030124 cholesterol 24-hydroxylase ISO SMPDB SMP:00316 NCBI chrNW_004955438:20,961,621...20,986,260
Ensembl chrNW_004955438:20,961,365...20,985,749
JBrowse link
G Scp2 sterol carrier protein 2 ISO SMPDB SMP:00316 NCBI chrNW_004955464:6,097,241...6,224,287
Ensembl chrNW_004955464:6,094,758...6,224,287
JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00316 NCBI chrNW_004955584:1,112,387...1,121,500
Ensembl chrNW_004955584:1,112,117...1,121,323
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 3930
    disease pathway 675
      nervous system disease pathway 427
        autonomic nervous system disease pathway + 17
        brain disease pathway + 335
        cerebrovascular disease pathway + 1
        movement disorder pathway + 80
        neurodegenerative pathway + 39
        neurological disorder pathway + 69
        sensory system disease pathway + 84
paths to the root