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PATHWAY ONTOLOGY - ANNOTATIONS

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

Term:nervous system disease pathway
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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.


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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_004936530:7,543,743...7,621,392
Ensembl chrNW_004936530:7,543,682...7,622,667
JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00136 NCBI chrNW_004936474:5,217,601...5,246,718
Ensembl chrNW_004936474:5,218,686...5,246,664
JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family member A1 ISO SMPDB SMP:00136 NCBI chrNW_004936671:843,577...865,798
Ensembl chrNW_004936671:843,577...865,881
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00136 NCBI chrNW_004936493:5,308,268...5,332,934
Ensembl chrNW_004936493:5,310,228...5,332,918
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00136 NCBI chrNW_004936586:5,739,038...5,850,317
Ensembl chrNW_004936586:5,739,337...5,850,312
JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00136 NCBI chrNW_004936501:8,190,466...8,209,320
Ensembl chrNW_004936501:8,188,071...8,209,386
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00136 NCBI chrNW_004936509:1,160,559...1,201,037
Ensembl chrNW_004936509:1,161,094...1,201,576
JBrowse link
G Gclc glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00136 NCBI chrNW_004936476:7,371,270...7,418,756
Ensembl chrNW_004936476:7,371,149...7,418,958
JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00136 NCBI chrNW_004936491:13,603,256...13,665,298
Ensembl chrNW_004936491:13,603,256...13,665,275
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00136 NCBI chrNW_004936646:825,957...842,184
Ensembl chrNW_004936646:823,682...842,199
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00136 NCBI chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Glul glutamate-ammonia ligase ISO SMPDB SMP:00136 NCBI chrNW_004936481:7,293,301...7,301,416
Ensembl chrNW_004936481:7,293,091...7,306,202
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00136 NCBI chrNW_004936519:3,094,763...3,143,322
Ensembl chrNW_004936519:3,104,701...3,141,549
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00136 NCBI chrNW_004936697:2,079,396...2,087,602
Ensembl chrNW_004936697:2,079,470...2,086,877
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00136 NCBI chrNW_004936470:7,765,810...7,770,837
Ensembl chrNW_004936470:7,765,703...7,768,465
JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00136 NCBI chrNW_004936792:531,076...579,083
Ensembl chrNW_004936792:531,756...579,166
JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00136 NCBI chrNW_004936561:5,765,637...5,793,951
Ensembl chrNW_004936561:5,765,610...5,793,567
JBrowse link
G LOC101977655 glutamate--cysteine ligase regulatory subunit ISO SMPDB SMP:00136 NCBI chrNW_004936537:5,356,914...5,378,998 JBrowse link
G Nadsyn1 NAD synthetase 1 ISO SMPDB SMP:00136 NCBI chrNW_004936794:1,394,975...1,423,807
Ensembl chrNW_004936794:1,396,703...1,423,709
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00136 NCBI chrNW_004936491:15,183,493...15,193,069
Ensembl chrNW_004936491:15,183,804...15,192,950
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00136 NCBI chrNW_004936482:18,606,124...18,648,989
Ensembl chrNW_004936482:18,606,124...18,648,681
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00136 NCBI chrNW_004936529:802,753...810,270
Ensembl chrNW_004936529:802,759...810,265
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_004936530:7,543,743...7,621,392
Ensembl chrNW_004936530:7,543,682...7,622,667
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00237 NCBI chrNW_004936497:13,242,644...13,269,007
Ensembl chrNW_004936497:13,242,644...13,269,532
JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00237 NCBI chrNW_004936684:1,572,386...1,591,231
Ensembl chrNW_004936684:1,575,955...1,591,212
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00237 NCBI chrNW_004936571:2,761,254...2,797,045 JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00237 NCBI chrNW_004936668:257,214...272,089
Ensembl chrNW_004936668:254,595...272,118
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00237 NCBI chrNW_004936486:11,668,099...11,707,946
Ensembl chrNW_004936486:11,668,099...11,711,786
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00237 NCBI chrNW_004936551:594,647...626,016
Ensembl chrNW_004936551:591,695...626,056
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00237 NCBI chrNW_004936558:4,362,693...4,387,705
Ensembl chrNW_004936558:4,362,654...4,390,414
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00237 NCBI chrNW_004936488:3,320,357...3,340,463
Ensembl chrNW_004936488:3,318,422...3,340,626
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00237 NCBI chrNW_004936825:263,725...332,424
Ensembl chrNW_004936825:263,081...332,622
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00237 NCBI chrNW_004936796:160,335...302,458
Ensembl chrNW_004936796:161,003...303,250
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00237 NCBI chrNW_004936548:2,385,756...2,454,423 JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00237 NCBI chrNW_004936661:3,799,998...3,817,560
Ensembl chrNW_004936661:3,799,955...3,819,851
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00237 NCBI chrNW_004936510:9,904,703...10,081,532
Ensembl chrNW_004936510:9,902,670...10,081,587
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00237 NCBI chrNW_004936748:342,655...386,017
Ensembl chrNW_004936748:342,394...386,000
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00237 NCBI chrNW_004936479:16,247,230...16,271,597
Ensembl chrNW_004936479:16,243,829...16,271,616
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00237 NCBI chrNW_004936486:19,488,619...19,496,583
Ensembl chrNW_004936486:19,488,554...19,496,575
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00237 NCBI chrNW_004936478:4,118,752...4,219,908 JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00237 NCBI chrNW_004936506:7,811,624...7,882,861
Ensembl chrNW_004936506:7,811,600...7,882,642
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00237 NCBI chrNW_004936474:8,955,216...8,971,078
Ensembl chrNW_004936474:8,954,379...8,971,132
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00237 NCBI chrNW_004936627:4,451,847...4,473,163
Ensembl chrNW_004936627:4,451,823...4,473,223
JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00237 NCBI chrNW_004936751:399,743...402,200
Ensembl chrNW_004936751:399,701...402,344
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00237 NCBI chrNW_004936471:3,871,152...3,883,521
Ensembl chrNW_004936471:3,871,148...3,885,241
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00237 NCBI chrNW_004936566:409,558...468,898
Ensembl chrNW_004936566:409,462...469,225
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00237 NCBI chrNW_004936549:4,760,073...4,830,190
Ensembl chrNW_004936549:4,755,546...4,830,242
JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00237 NCBI chrNW_004936483:971,148...990,634
Ensembl chrNW_004936483:970,452...990,638
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00237 NCBI chrNW_004936476:11,208,251...11,241,648
Ensembl chrNW_004936476:11,208,267...11,241,648
JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00237 NCBI chrNW_004936518:924,840...1,057,201 JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00237 NCBI chrNW_004936472:10,167,387...10,501,824
Ensembl chrNW_004936472:10,164,642...10,501,878
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00237 NCBI chrNW_004936529:9,106,525...9,166,311
Ensembl chrNW_004936529:9,106,496...9,176,394
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_004936530:7,543,743...7,621,392
Ensembl chrNW_004936530:7,543,682...7,622,667
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00140 NCBI chrNW_004936497:13,242,644...13,269,007
Ensembl chrNW_004936497:13,242,644...13,269,532
JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00140 NCBI chrNW_004936684:1,572,386...1,591,231
Ensembl chrNW_004936684:1,575,955...1,591,212
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00140 NCBI chrNW_004936571:2,761,254...2,797,045 JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00140 NCBI chrNW_004936668:257,214...272,089
Ensembl chrNW_004936668:254,595...272,118
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00140 NCBI chrNW_004936486:11,668,099...11,707,946
Ensembl chrNW_004936486:11,668,099...11,711,786
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00140 NCBI chrNW_004936551:594,647...626,016
Ensembl chrNW_004936551:591,695...626,056
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00140 NCBI chrNW_004936558:4,362,693...4,387,705
Ensembl chrNW_004936558:4,362,654...4,390,414
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00140 NCBI chrNW_004936488:3,320,357...3,340,463
Ensembl chrNW_004936488:3,318,422...3,340,626
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00140 NCBI chrNW_004936825:263,725...332,424
Ensembl chrNW_004936825:263,081...332,622
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00140 NCBI chrNW_004936796:160,335...302,458
Ensembl chrNW_004936796:161,003...303,250
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00140 NCBI chrNW_004936548:2,385,756...2,454,423 JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00140 NCBI chrNW_004936661:3,799,998...3,817,560
Ensembl chrNW_004936661:3,799,955...3,819,851
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00140 NCBI chrNW_004936510:9,904,703...10,081,532
Ensembl chrNW_004936510:9,902,670...10,081,587
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00140 NCBI chrNW_004936748:342,655...386,017
Ensembl chrNW_004936748:342,394...386,000
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00140 NCBI chrNW_004936479:16,247,230...16,271,597
Ensembl chrNW_004936479:16,243,829...16,271,616
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00140 NCBI chrNW_004936486:19,488,619...19,496,583
Ensembl chrNW_004936486:19,488,554...19,496,575
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00140 NCBI chrNW_004936478:4,118,752...4,219,908 JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00140 NCBI chrNW_004936506:7,811,624...7,882,861
Ensembl chrNW_004936506:7,811,600...7,882,642
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00140 NCBI chrNW_004936474:8,955,216...8,971,078
Ensembl chrNW_004936474:8,954,379...8,971,132
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00140 NCBI chrNW_004936627:4,451,847...4,473,163
Ensembl chrNW_004936627:4,451,823...4,473,223
JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00140 NCBI chrNW_004936751:399,743...402,200
Ensembl chrNW_004936751:399,701...402,344
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00140 NCBI chrNW_004936471:3,871,152...3,883,521
Ensembl chrNW_004936471:3,871,148...3,885,241
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00140 NCBI chrNW_004936566:409,558...468,898
Ensembl chrNW_004936566:409,462...469,225
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00140 NCBI chrNW_004936549:4,760,073...4,830,190
Ensembl chrNW_004936549:4,755,546...4,830,242
JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00140 NCBI chrNW_004936483:971,148...990,634
Ensembl chrNW_004936483:970,452...990,638
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00140 NCBI chrNW_004936476:11,208,251...11,241,648
Ensembl chrNW_004936476:11,208,267...11,241,648
JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00140 NCBI chrNW_004936518:924,840...1,057,201 JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00140 NCBI chrNW_004936472:10,167,387...10,501,824
Ensembl chrNW_004936472:10,164,642...10,501,878
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00140 NCBI chrNW_004936529:9,106,525...9,166,311
Ensembl chrNW_004936529:9,106,496...9,176,394
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_004936809:615,133...634,618
Ensembl chrNW_004936809:615,139...635,990
JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00516 NCBI chrNW_004936607:1,292,964...1,345,671
Ensembl chrNW_004936607:1,292,888...1,343,334
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00516 NCBI chrNW_004936554:4,425,518...4,484,853
Ensembl chrNW_004936554:4,425,495...4,484,887
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00516 NCBI chrNW_004936522:7,858,172...7,875,679
Ensembl chrNW_004936522:7,856,087...7,875,685
JBrowse link
G Crat carnitine O-acetyltransferase ISO SMPDB SMP:00516 NCBI chrNW_004936487:16,523,571...16,537,242
Ensembl chrNW_004936487:16,523,571...16,537,248
JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00516 NCBI chrNW_004936763:1,425,394...1,462,638
Ensembl chrNW_004936763:1,424,935...1,462,679
JBrowse link
G LOC101959362 peroxisomal membrane protein PEX14 ISO SMPDB SMP:00516 NCBI chrNW_004936623:4,313,186...4,462,462
Ensembl chrNW_004936623:4,313,147...4,462,528
Ensembl chrNW_004936623:4,313,147...4,462,528
JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00516 NCBI chrNW_004936588:4,574,220...4,580,195
Ensembl chrNW_004936588:4,574,612...4,580,222
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00516 NCBI chrNW_004936491:6,530,385...6,559,706
Ensembl chrNW_004936491:6,529,779...6,562,590
JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO SMPDB SMP:00516 NCBI chrNW_004936529:607,035...631,872
Ensembl chrNW_004936529:606,804...631,991
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_004936530:2,217,713...2,224,070 JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00168 NCBI chrNW_004936481:18,274,158...18,330,136
Ensembl chrNW_004936481:18,274,154...18,330,173
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00168 NCBI chrNW_004936492:1,423,780...1,440,825 JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00168 NCBI chrNW_004936526:6,342,233...6,380,736
Ensembl chrNW_004936526:6,342,221...6,380,840
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00168 NCBI chrNW_004936487:15,507,663...15,517,401
Ensembl chrNW_004936487:15,507,498...15,517,469
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00168 NCBI chrNW_004936627:33,350...57,231
Ensembl chrNW_004936627:33,350...57,166
JBrowse link
G Aprt adenine phosphoribosyltransferase ISO SMPDB SMP:00168 NCBI chrNW_004936641:913,674...916,312
Ensembl chrNW_004936641:913,475...918,748
JBrowse link
G Atad1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00168 NCBI chrNW_004936735:1,377,168...1,423,696
Ensembl chrNW_004936735:1,376,526...1,422,126
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00168 NCBI chrNW_004936586:1,782,581...1,809,458
Ensembl chrNW_004936586:1,782,528...1,810,010
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00168 NCBI chrNW_004936556:226,643...263,517
Ensembl chrNW_004936556:226,627...264,905
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00168 NCBI chrNW_004936488:3,241,004...3,280,360
Ensembl chrNW_004936488:3,237,772...3,279,947
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00168 NCBI chrNW_004936669:629,400...632,898
Ensembl chrNW_004936669:615,375...634,309
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00168 NCBI chrNW_004936500:8,750,928...8,782,303
Ensembl chrNW_004936500:8,753,463...8,786,236
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00168 NCBI chrNW_004936503:8,191,925...8,279,806
Ensembl chrNW_004936503:8,192,049...8,278,790
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00168 NCBI chrNW_004936552:2,458,728...2,496,145
Ensembl chrNW_004936552:2,458,698...2,497,191
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00168 NCBI chrNW_004936519:3,094,763...3,143,322
Ensembl chrNW_004936519:3,104,701...3,141,549
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00168 NCBI chrNW_004936551:1,573,930...1,814,685
Ensembl chrNW_004936551:1,575,356...1,814,697
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00168 NCBI chrNW_004936576:2,427,451...2,469,946
Ensembl chrNW_004936576:2,427,416...2,470,072
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00168 NCBI chrNW_004936864:76,707...86,479
Ensembl chrNW_004936864:76,128...79,520
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00168 NCBI chrNW_004936691:650,753...694,362
Ensembl chrNW_004936691:652,769...694,463
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00168 NCBI chrNW_004936479:15,523,342...15,540,229
Ensembl chrNW_004936479:15,523,037...15,540,173
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00168 NCBI chrNW_004936485:15,499,688...15,511,992
Ensembl chrNW_004936485:15,497,822...15,511,992
JBrowse link
G LOC101961407 phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00168 NCBI chrNW_004936482:18,649,093...18,664,629
Ensembl chrNW_004936482:18,626,015...18,667,164
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00168 NCBI chrNW_004936529:88,929...96,207
Ensembl chrNW_004936529:88,949...96,236
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00168 NCBI chrNW_004936600:2,828,277...2,892,795 JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00168 NCBI chrNW_004936524:2,438,947...2,452,647
Ensembl chrNW_004936524:2,441,860...2,454,174
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00168 NCBI chrNW_004936484:3,148,955...3,169,527
Ensembl chrNW_004936484:3,156,586...3,169,146
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00168 NCBI chrNW_004936489:15,401,248...15,671,594
Ensembl chrNW_004936489:15,400,629...15,671,600
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00168 NCBI chrNW_004936480:8,123,437...9,235,586
Ensembl chrNW_004936480:8,204,701...9,234,865
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00168 NCBI chrNW_004936595:1,483,688...1,499,716
Ensembl chrNW_004936595:1,483,689...1,501,364
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00168 NCBI chrNW_004936877:686,539...692,832 JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00168 NCBI chrNW_004936482:18,606,124...18,648,989
Ensembl chrNW_004936482:18,606,124...18,648,681
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00168 NCBI chrNW_004936546:4,332,773...4,333,738 JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00168 NCBI chrNW_004936498:815,401...848,749
Ensembl chrNW_004936498:815,399...848,793
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00168 NCBI chrNW_004936532:6,348,041...6,390,144 JBrowse link
G Txn thioredoxin ISO SMPDB SMP:00168 NCBI chrNW_004936559:2,811,786...2,822,528
Ensembl chrNW_004936559:2,811,782...2,822,528
JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00168 NCBI chrNW_004936493:1,762,814...1,824,501
Ensembl chrNW_004936493:1,762,869...1,823,238
JBrowse link
Alzheimer's disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101959212 alpha-2-macroglobulin ISO RGD PMID:9697696 RGD:1302534 NCBI chrNW_004936870:424,832...468,303
Ensembl chrNW_004936870:424,951...468,167
JBrowse link
G LOC101977945 ubiquitin-conjugating enzyme E2 G1 ISO RGD PMID:11020223 RGD:1302873 NCBI chrNW_004936615:4,813,101...4,816,554 JBrowse link
G Psen2 presenilin 2 ISO DNA:missense mutation:cds:p.N141I (human) RGD PMID:10976645 RGD:9743900 NCBI chrNW_004936526:3,584,194...3,611,719
Ensembl chrNW_004936526:3,584,188...3,614,074
JBrowse link
G Ube2d3 ubiquitin conjugating enzyme E2 D3 ISO RGD PMID:11020223 RGD:1302873 NCBI chrNW_004936520:555,878...588,052
Ensembl chrNW_004936520:556,231...588,752
JBrowse link
G Ube2d4 ubiquitin conjugating enzyme E2 D4 (putative) ISO RGD PMID:11020223 RGD:1302873 NCBI chrNW_004936478:18,981,457...19,003,924
Ensembl chrNW_004936478:18,985,711...19,002,056
JBrowse link
G Ube2i ubiquitin conjugating enzyme E2 I ISO RGD PMID:11020223 RGD:1302873 NCBI chrNW_004936694:2,561,701...2,571,284
Ensembl chrNW_004936694:2,561,681...2,576,647
JBrowse link
G Ube2n ubiquitin conjugating enzyme E2 N ISO RGD PMID:11020223 RGD:1302873
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_004936533:2,779,650...2,918,640
Ensembl chrNW_004936533:2,779,518...2,918,298
JBrowse link
G Sod1 superoxide dismutase 1 ISO RGD PMID:8446170 PMID:16583367 RGD:1581209 RGD:737689 NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867
JBrowse link
argininosuccinic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asl argininosuccinate lyase ISO SMPDB SMP:00003 NCBI chrNW_004936543:7,688,788...7,699,842
Ensembl chrNW_004936543:7,688,741...7,699,851
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00003 NCBI chrNW_004936487:17,482,307...17,527,407
Ensembl chrNW_004936487:17,486,826...17,527,435
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00003 NCBI chrNW_004936586:5,739,038...5,850,317
Ensembl chrNW_004936586:5,739,337...5,850,312
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00003 NCBI chrNW_004936646:825,957...842,184
Ensembl chrNW_004936646:823,682...842,199
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00003 NCBI chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00003 NCBI chrNW_004936470:7,765,810...7,770,837
Ensembl chrNW_004936470:7,765,703...7,768,465
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00003 NCBI chrNW_004936502:5,234,253...5,291,891
Ensembl chrNW_004936502:5,234,253...5,291,891
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00003 NCBI chrNW_004936491:9,761,002...9,790,535
Ensembl chrNW_004936491:9,760,952...9,790,536
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00003 NCBI chrNW_004936664:599,012...610,689
Ensembl chrNW_004936664:598,468...610,698
JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00003 NCBI chrNW_004936509:1,994,082...2,077,731
Ensembl chrNW_004936509:1,990,116...2,077,938
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00003 NCBI chrNW_004936565:5,113,625...5,133,318
Ensembl chrNW_004936565:5,115,600...5,133,345
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_004936503:497,391...517,011
Ensembl chrNW_004936503:496,965...516,888
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00172 NCBI chrNW_004936493:5,308,268...5,332,934
Ensembl chrNW_004936493:5,310,228...5,332,918
JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00172 NCBI chrNW_004936594:3,318,460...3,325,677
Ensembl chrNW_004936594:3,318,425...3,332,973
JBrowse link
G Cda cytidine deaminase ISO SMPDB SMP:00172 NCBI chrNW_004936474:6,543,295...6,564,575
Ensembl chrNW_004936474:6,543,220...6,566,308
JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00172 NCBI chrNW_004936532:3,896,654...3,908,184
Ensembl chrNW_004936532:3,895,755...3,908,367
JBrowse link
G Ctps1 CTP synthase 1 ISO SMPDB SMP:00172 NCBI chrNW_004936474:22,611,037...22,633,208
Ensembl chrNW_004936474:22,602,800...22,633,169
JBrowse link
G Dctd dCMP deaminase ISO SMPDB SMP:00172 NCBI chrNW_004936554:6,088,544...6,110,274
Ensembl chrNW_004936554:6,088,538...6,118,976
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00172 NCBI chrNW_004936475:21,863,627...21,877,660
Ensembl chrNW_004936475:21,862,166...21,877,711
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00172 NCBI chrNW_004936537:1,660,461...2,439,305
Ensembl chrNW_004936537:1,660,477...2,439,273
JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00172 NCBI chrNW_004936470:39,564,431...39,637,394
Ensembl chrNW_004936470:39,564,335...39,637,544
JBrowse link
G Dut deoxyuridine triphosphatase ISO SMPDB SMP:00172 NCBI chrNW_004936471:10,670,604...10,681,356 JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00172 NCBI chrNW_004936503:8,191,925...8,279,806
Ensembl chrNW_004936503:8,192,049...8,278,790
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00172 NCBI chrNW_004936485:15,499,688...15,511,992
Ensembl chrNW_004936485:15,497,822...15,511,992
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00172 NCBI chrNW_004936529:88,929...96,207
Ensembl chrNW_004936529:88,949...96,236
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00172 NCBI chrNW_004936600:2,828,277...2,892,795 JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00172 NCBI chrNW_004936532:6,348,041...6,390,144 JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00172 NCBI chrNW_004936470:41,354,387...41,401,308
Ensembl chrNW_004936470:41,354,287...41,401,317
JBrowse link
G Tk1 thymidine kinase 1 ISO SMPDB SMP:00172 NCBI chrNW_004936594:2,784,891...2,794,693
Ensembl chrNW_004936594:2,784,226...2,794,830
JBrowse link
G Tymp thymidine phosphorylase ISO SMPDB SMP:00172 NCBI chrNW_004936629:315,609...320,356
Ensembl chrNW_004936629:315,610...319,076
JBrowse link
G Tyms thymidylate synthetase ISO SMPDB SMP:00172 NCBI chrNW_004936550:33,797...42,233
Ensembl chrNW_004936550:34,048...41,840
JBrowse link
G Uckl1 uridine-cytidine kinase 1 like 1 ISO SMPDB SMP:00172 NCBI chrNW_004936514:11,144,641...11,156,470
Ensembl chrNW_004936514:11,144,026...11,156,455
JBrowse link
G Umps uridine monophosphate synthetase ISO SMPDB SMP:00172 NCBI chrNW_004936725:553,278...564,846
Ensembl chrNW_004936725:549,804...565,141
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00172 NCBI chrNW_004936619:668,380...713,720
Ensembl chrNW_004936619:668,351...696,306
JBrowse link
G Upp2 uridine phosphorylase 2 ISO SMPDB SMP:00172 NCBI chrNW_004936469:20,465,767...20,513,084
Ensembl chrNW_004936469:20,465,767...20,513,075
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_004936596:5,265,984...5,301,430
Ensembl chrNW_004936596:5,265,999...5,300,429
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_004936530:7,543,743...7,621,392
Ensembl chrNW_004936530:7,543,682...7,622,667
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00175 NCBI chrNW_004936492:1,423,780...1,440,825 JBrowse link
G Adss1 adenylosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chrNW_004936621:655,004...667,608
Ensembl chrNW_004936621:655,008...664,762
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00175 NCBI chrNW_004936543:7,688,788...7,699,842
Ensembl chrNW_004936543:7,688,741...7,699,851
JBrowse link
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO SMPDB SMP:00175 NCBI chrNW_004936585:2,834,202...2,854,740
Ensembl chrNW_004936585:2,834,008...2,855,387
JBrowse link
G Aspa aspartoacylase ISO SMPDB SMP:00175 NCBI chrNW_004936677:219,459...232,545 JBrowse link
G Asrgl1 asparaginase and isoaspartyl peptidase 1 ISO SMPDB SMP:00175 NCBI chrNW_004936581:823,665...847,579
Ensembl chrNW_004936581:821,771...847,704
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chrNW_004936487:17,482,307...17,527,407
Ensembl chrNW_004936487:17,486,826...17,527,435
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00175 NCBI chrNW_004936493:5,308,268...5,332,934
Ensembl chrNW_004936493:5,310,228...5,332,918
JBrowse link
G Dars1 aspartyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chrNW_004936469:39,921,182...39,979,297
Ensembl chrNW_004936469:39,921,120...39,979,323
JBrowse link
G Ddo D-aspartate oxidase ISO SMPDB SMP:00175 NCBI chrNW_004936564:6,280,890...6,299,838
Ensembl chrNW_004936564:6,280,014...6,299,856
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00175 NCBI chrNW_004936509:1,160,559...1,201,037
Ensembl chrNW_004936509:1,161,094...1,201,576
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00175 NCBI chrNW_004936664:3,674,612...3,715,036
Ensembl chrNW_004936664:3,675,805...3,686,262
JBrowse link
G Nars1 asparaginyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chrNW_004936497:6,727,676...6,745,187
Ensembl chrNW_004936497:6,727,676...6,745,417
JBrowse link
carbamoyl phosphate synthetase I deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asl argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chrNW_004936543:7,688,788...7,699,842
Ensembl chrNW_004936543:7,688,741...7,699,851
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chrNW_004936487:17,482,307...17,527,407
Ensembl chrNW_004936487:17,486,826...17,527,435
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chrNW_004936586:5,739,038...5,850,317
Ensembl chrNW_004936586:5,739,337...5,850,312
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chrNW_004936646:825,957...842,184
Ensembl chrNW_004936646:823,682...842,199
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00002 NCBI chrNW_004936470:7,765,810...7,770,837
Ensembl chrNW_004936470:7,765,703...7,768,465
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00002 NCBI chrNW_004936502:5,234,253...5,291,891
Ensembl chrNW_004936502:5,234,253...5,291,891
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chrNW_004936491:9,761,002...9,790,535
Ensembl chrNW_004936491:9,760,952...9,790,536
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chrNW_004936664:599,012...610,689
Ensembl chrNW_004936664:598,468...610,698
JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chrNW_004936509:1,994,082...2,077,731
Ensembl chrNW_004936509:1,990,116...2,077,938
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chrNW_004936565:5,113,625...5,133,318
Ensembl chrNW_004936565:5,115,600...5,133,345
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_004936530:7,543,743...7,621,392
Ensembl chrNW_004936530:7,543,682...7,622,667
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00493 NCBI chrNW_004936558:4,362,693...4,387,705
Ensembl chrNW_004936558:4,362,654...4,390,414
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00493 NCBI chrNW_004936488:3,320,357...3,340,463
Ensembl chrNW_004936488:3,318,422...3,340,626
JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO SMPDB SMP:00493 NCBI chrNW_004936616:3,955,847...3,984,021 JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00493 NCBI chrNW_004936537:1,660,461...2,439,305
Ensembl chrNW_004936537:1,660,477...2,439,273
JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00493 NCBI chrNW_004936470:39,564,431...39,637,394
Ensembl chrNW_004936470:39,564,335...39,637,544
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00493 NCBI chrNW_004936509:1,160,559...1,201,037
Ensembl chrNW_004936509:1,161,094...1,201,576
JBrowse link
G LOC101973421 amine oxidase copper containing 3 ISO SMPDB SMP:00493 NCBI chrNW_004936490:17,549,836...17,564,867 JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00493 NCBI chrNW_004936619:668,380...713,720
Ensembl chrNW_004936619:668,351...696,306
JBrowse link
citrullinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asl argininosuccinate lyase ISO SMPDB SMP:00001 NCBI chrNW_004936543:7,688,788...7,699,842
Ensembl chrNW_004936543:7,688,741...7,699,851
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00001 NCBI chrNW_004936487:17,482,307...17,527,407
Ensembl chrNW_004936487:17,486,826...17,527,435
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00001 NCBI chrNW_004936586:5,739,038...5,850,317
Ensembl chrNW_004936586:5,739,337...5,850,312
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00001 NCBI chrNW_004936646:825,957...842,184
Ensembl chrNW_004936646:823,682...842,199
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00001 NCBI chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00001 NCBI chrNW_004936470:7,765,810...7,770,837
Ensembl chrNW_004936470:7,765,703...7,768,465
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00001 NCBI chrNW_004936502:5,234,253...5,291,891
Ensembl chrNW_004936502:5,234,253...5,291,891
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00001 NCBI chrNW_004936491:9,761,002...9,790,535
Ensembl chrNW_004936491:9,760,952...9,790,536
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00001 NCBI chrNW_004936664:599,012...610,689
Ensembl chrNW_004936664:598,468...610,698
JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00001 NCBI chrNW_004936509:1,994,082...2,077,731
Ensembl chrNW_004936509:1,990,116...2,077,938
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00001 NCBI chrNW_004936565:5,113,625...5,133,318
Ensembl chrNW_004936565:5,115,600...5,133,345
JBrowse link
dopa responsive dystonia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1b1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00486 NCBI chrNW_004936579:1,312,175...1,328,397 JBrowse link
G Cbr1 carbonyl reductase 1 ISO SMPDB SMP:00486 NCBI chrNW_004936500:6,569,708...6,591,266
Ensembl chrNW_004936500:6,458,721...6,591,928
JBrowse link
G Dhfr dihydrofolate reductase ISO SMPDB SMP:00486 NCBI chrNW_004936469:67,962...83,116 JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO SMPDB SMP:00486 NCBI chrNW_004936697:232,048...275,420 JBrowse link
G Gchfr GTP cyclohydrolase I feedback regulator ISO SMPDB SMP:00486 NCBI chrNW_004936471:4,166,923...4,171,676
Ensembl chrNW_004936471:4,166,506...4,171,713
JBrowse link
G Pts 6-pyruvoyltetrahydropterin synthase ISO SMPDB SMP:00486 NCBI chrNW_004936612:2,247,825...2,255,277
Ensembl chrNW_004936612:2,246,878...2,253,675
JBrowse link
G Qdpr quinoid dihydropteridine reductase ISO SMPDB SMP:00486 NCBI chrNW_004936477:10,687,328...10,708,015
Ensembl chrNW_004936477:10,687,276...10,708,031
JBrowse link
G Spr sepiapterin reductase ISO SMPDB SMP:00486 NCBI chrNW_004936491:16,693,940...16,699,040 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_004936881:71,047...77,543
Ensembl chrNW_004936881:70,951...77,839
JBrowse link
G Aoc1 amine oxidase copper containing 1 ISO SMPDB SMP:00498 NCBI chrNW_004936527:6,309,210...6,312,869
Ensembl chrNW_004936527:6,308,682...6,312,815
JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00498 NCBI chrNW_004936619:3,847,059...3,883,866
Ensembl chrNW_004936619:3,876,299...3,882,747
JBrowse link
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00498 NCBI chrNW_004936669:3,302,014...3,326,233
Ensembl chrNW_004936669:3,301,802...3,320,643
JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00498 NCBI chrNW_004936472:15,074,947...15,110,427
Ensembl chrNW_004936472:15,074,633...15,110,534
JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00498 NCBI chrNW_004936686:1,322,153...1,405,434
Ensembl chrNW_004936686:1,301,207...1,405,384
JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00498 NCBI chrNW_004936471:38,140,324...38,174,472
Ensembl chrNW_004936471:38,140,273...38,174,702
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00498 NCBI chrNW_004936636:617,376...640,424
Ensembl chrNW_004936636:617,356...640,932
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00498 NCBI chrNW_004936488:6,141,913...6,153,591
Ensembl chrNW_004936488:6,141,317...6,154,075
JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00498 NCBI chrNW_004936508:8,971,516...8,987,235
Ensembl chrNW_004936508:8,971,477...8,986,404
JBrowse link
G Hgd homogentisate 1,2-dioxygenase ISO SMPDB SMP:00498 NCBI chrNW_004936536:7,314,548...7,359,426
Ensembl chrNW_004936536:7,314,754...7,352,222
JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00498 NCBI chrNW_004936502:9,816,443...9,888,002
Ensembl chrNW_004936502:9,815,319...9,888,026
JBrowse link
G Mif macrophage migration inhibitory factor ISO SMPDB SMP:00498 NCBI chrNW_004936619:1,207,058...1,208,010
Ensembl chrNW_004936619:1,203,746...1,208,442
JBrowse link
G Pnmt phenylethanolamine N-methyltransferase ISO SMPDB SMP:00498 NCBI chrNW_004936490:14,858,682...14,861,614
Ensembl chrNW_004936490:14,858,603...14,865,321
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00498 NCBI chrNW_004936475:22,190,282...22,199,398
Ensembl chrNW_004936475:22,189,728...22,199,672
JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00498 NCBI chrNW_004936736:421,623...519,085
Ensembl chrNW_004936736:421,598...519,253
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_004936497:13,242,644...13,269,007
Ensembl chrNW_004936497:13,242,644...13,269,532
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00181 NCBI chrNW_004936845:66,674...96,248
Ensembl chrNW_004936845:66,241...96,249
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00181 NCBI chrNW_004936571:2,761,254...2,797,045 JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00181 NCBI chrNW_004936668:257,214...272,089
Ensembl chrNW_004936668:254,595...272,118
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00181 NCBI chrNW_004936486:11,668,099...11,707,946
Ensembl chrNW_004936486:11,668,099...11,711,786
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00181 NCBI chrNW_004936595:514,883...520,223
Ensembl chrNW_004936595:514,534...520,223
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00181 NCBI chrNW_004936551:594,647...626,016
Ensembl chrNW_004936551:591,695...626,056
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00181 NCBI chrNW_004936554:4,425,518...4,484,853
Ensembl chrNW_004936554:4,425,495...4,484,887
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00181 NCBI chrNW_004936599:1,491,934...1,535,101
Ensembl chrNW_004936599:1,482,172...1,535,119
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00181 NCBI chrNW_004936522:7,858,172...7,875,679
Ensembl chrNW_004936522:7,856,087...7,875,685
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00181 NCBI chrNW_004936486:19,488,619...19,496,583
Ensembl chrNW_004936486:19,488,554...19,496,575
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00181 NCBI chrNW_004936659:1,955,601...1,961,925
Ensembl chrNW_004936659:1,955,559...1,962,758
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00181 NCBI chrNW_004936493:6,182,786...6,224,601
Ensembl chrNW_004936493:6,182,261...6,224,693
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00181 NCBI chrNW_004936493:6,139,717...6,182,792
Ensembl chrNW_004936493:6,137,970...6,182,792
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_004936588:3,688,244...3,705,831
Ensembl chrNW_004936588:3,688,244...3,705,831
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00525 NCBI chrNW_004936498:5,496,991...5,653,206
Ensembl chrNW_004936498:5,496,991...5,653,206
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00525 NCBI chrNW_004936629:187,281...205,493
Ensembl chrNW_004936629:187,275...191,008
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00525 NCBI chrNW_004936682:1,535,617...1,590,723
Ensembl chrNW_004936682:1,535,586...1,593,827
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00525 NCBI chrNW_004936629:3,304,236...3,346,264
Ensembl chrNW_004936629:3,304,236...3,344,136
JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00525 NCBI chrNW_004936604:3,821,672...3,839,975
Ensembl chrNW_004936604:3,817,886...3,839,986
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00525 NCBI chrNW_004936594:3,855,071...3,864,034
Ensembl chrNW_004936594:3,855,150...3,858,317
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00525 NCBI chrNW_004936904:142,576...158,606
Ensembl chrNW_004936904:142,387...159,633
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00525 NCBI chrNW_004936488:15,444,184...15,519,395
Ensembl chrNW_004936488:15,444,801...15,518,856
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00525 NCBI chrNW_004936580:4,715,869...4,720,752
Ensembl chrNW_004936580:4,715,408...4,720,798
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00525 NCBI chrNW_004936813:474,938...484,753
Ensembl chrNW_004936813:474,949...484,760
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00525 NCBI chrNW_004936473:23,348,431...23,440,271
Ensembl chrNW_004936473:23,348,416...23,440,196
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00525 NCBI chrNW_004936497:2,169,982...2,199,600
Ensembl chrNW_004936497:2,169,712...2,203,150
JBrowse link
G LOC101967158 serine palmitoyltransferase 2 ISO SMPDB SMP:00525 NCBI chrNW_004936488:6,313,189...6,404,425
Ensembl chrNW_004936488:6,289,833...6,296,849
Ensembl chrNW_004936488:6,289,833...6,296,849
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00525 NCBI chrNW_004936498:3,897,511...3,915,013
Ensembl chrNW_004936498:3,897,485...3,910,115
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00525 NCBI chrNW_004936480:12,265,304...12,357,747
Ensembl chrNW_004936480:12,265,246...12,359,450
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00525 NCBI chrNW_004936735:1,702,754...1,984,141
Ensembl chrNW_004936735:1,943,352...1,984,141
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00525 NCBI chrNW_004936521:7,850,370...7,899,998
Ensembl chrNW_004936521:7,848,972...7,900,041
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00525 NCBI chrNW_004936569:4,405,804...4,518,637
Ensembl chrNW_004936569:4,406,253...4,518,655
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00525 NCBI chrNW_004936664:2,668,708...2,676,608
Ensembl chrNW_004936664:2,669,920...2,676,587
JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00525 NCBI chrNW_004936796:886,946...948,254
Ensembl chrNW_004936796:886,922...948,254
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00525 NCBI chrNW_004936559:1,475,684...1,513,273
Ensembl chrNW_004936559:1,475,592...1,513,273
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00525 NCBI chrNW_004936563:5,251,451...5,305,683
Ensembl chrNW_004936563:5,224,173...5,306,120
JBrowse link
french type sialuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chit1 chitinase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004936567:1,373,727...1,385,694
Ensembl chrNW_004936567:1,376,768...1,385,616
JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004936548:4,877,753...4,895,768
Ensembl chrNW_004936548:4,877,530...4,895,822
JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004936491:13,603,256...13,665,298
Ensembl chrNW_004936491:13,603,256...13,665,275
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004936524:4,184,831...4,234,257
Ensembl chrNW_004936524:4,196,830...4,252,163
JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004936504:12,181,544...12,192,596 JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004936697:2,079,396...2,087,602
Ensembl chrNW_004936697:2,079,470...2,086,877
JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004936471:31,712,485...31,738,273
Ensembl chrNW_004936471:31,709,491...31,738,245
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004936521:9,067,062...9,139,112
Ensembl chrNW_004936521:9,066,999...9,159,793
JBrowse link
G LOC101977071 sialin ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004936859:668,900...684,207 JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004936491:15,183,493...15,193,069
Ensembl chrNW_004936491:15,183,804...15,192,950
JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004936620:235,013...245,138
Ensembl chrNW_004936620:234,964...246,803
JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004936524:6,772,831...6,791,854
Ensembl chrNW_004936524:6,772,796...6,791,902
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004936481:6,942,128...6,977,042
Ensembl chrNW_004936481:6,942,282...6,972,775
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004936510:7,586,817...7,622,586
Ensembl chrNW_004936510:7,586,837...7,609,267
JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004936809:817,392...823,926
Ensembl chrNW_004936809:817,355...823,941
JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004936831:733,072...770,495
Ensembl chrNW_004936831:732,967...771,478
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_004936492:407,482...452,538
Ensembl chrNW_004936492:407,482...452,537
JBrowse link
G Cs citrate synthase ISO SMPDB SMP:00547 NCBI chrNW_004936646:676,926...704,988
Ensembl chrNW_004936646:678,307...692,777
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00547 NCBI chrNW_004936612:2,395,452...2,437,592
Ensembl chrNW_004936612:2,393,071...2,437,522
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00547 NCBI chrNW_004936479:16,247,230...16,271,597
Ensembl chrNW_004936479:16,243,829...16,271,616
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00547 NCBI chrNW_004936488:4,038,985...4,061,071
Ensembl chrNW_004936488:4,038,985...4,061,087
JBrowse link
G Fh fumarate hydratase ISO SMPDB SMP:00547 NCBI chrNW_004936526:8,936,096...8,965,155
Ensembl chrNW_004936526:8,935,991...8,965,367
JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO SMPDB SMP:00547 NCBI chrNW_004936471:36,823,003...36,842,576
Ensembl chrNW_004936471:36,822,971...36,842,610
JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO SMPDB SMP:00547 NCBI chrNW_004936485:16,033,287...16,038,097
Ensembl chrNW_004936485:16,033,128...16,042,821
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO SMPDB SMP:00547 NCBI chrNW_004936809:666,231...675,279
Ensembl chrNW_004936809:666,337...675,214
JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00547 NCBI chrNW_004936543:2,194,074...2,208,626
Ensembl chrNW_004936543:2,194,032...2,208,651
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00547 NCBI chrNW_004936489:16,179,321...16,181,991
Ensembl chrNW_004936489:16,179,810...16,184,020
JBrowse link
G Ogdh oxoglutarate dehydrogenase ISO SMPDB SMP:00547 NCBI chrNW_004936478:19,506,845...19,584,411
Ensembl chrNW_004936478:19,506,154...19,583,364
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00547 NCBI chrNW_004936599:2,677,770...2,793,033
Ensembl chrNW_004936599:2,677,583...2,793,197
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00547 NCBI chrNW_004936844:889,720...906,631
Ensembl chrNW_004936844:889,635...909,586
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00547 NCBI chrNW_004936473:2,580,642...2,586,266
Ensembl chrNW_004936473:2,580,618...2,586,266
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO SMPDB SMP:00547 NCBI chrNW_004936815:1,148,963...1,167,585
Ensembl chrNW_004936815:1,148,963...1,167,568
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO SMPDB SMP:00547 NCBI chrNW_004936474:3,993,224...4,021,359
Ensembl chrNW_004936474:3,990,778...4,021,423
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO SMPDB SMP:00547 NCBI chrNW_004936903:592,641...636,845
Ensembl chrNW_004936903:601,355...636,092
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO SMPDB SMP:00547 NCBI chrNW_004936612:2,357,336...2,369,204 JBrowse link
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO SMPDB SMP:00547 NCBI chrNW_004936650:3,278,769...3,313,537
Ensembl chrNW_004936650:3,275,019...3,313,599
JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO SMPDB SMP:00547 NCBI chrNW_004936603:243,113...378,526
Ensembl chrNW_004936603:243,113...378,528
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_004936474:8,949,814...8,954,269
Ensembl chrNW_004936474:8,949,798...8,954,315
JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00495 NCBI chrNW_004936594:944,936...950,537
Ensembl chrNW_004936594:944,944...949,838
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00495 NCBI chrNW_004936524:2,726,795...2,730,049
Ensembl chrNW_004936524:2,726,749...2,730,564
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00495 NCBI chrNW_004936478:19,104,477...19,118,915
Ensembl chrNW_004936478:19,105,361...19,158,733
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00495 NCBI chrNW_004936692:1,160,836...1,221,270
Ensembl chrNW_004936692:1,160,623...1,221,746
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00495 NCBI chrNW_004936482:7,090,241...7,118,315
Ensembl chrNW_004936482:7,089,621...7,118,284
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00495 NCBI chrNW_004936491:8,773,910...8,834,984
Ensembl chrNW_004936491:8,773,892...8,837,661
JBrowse link
G Uxs1 UDP-glucuronate decarboxylase 1 ISO SMPDB SMP:00495 NCBI chrNW_004936729:5,056...99,755
Ensembl chrNW_004936729:4,916...99,818
JBrowse link
galactosemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1b1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00182 NCBI chrNW_004936579:1,312,175...1,328,397 JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO SMPDB SMP:00182 NCBI chrNW_004936524:1,659,791...1,713,971
Ensembl chrNW_004936524:1,659,608...1,714,102
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00182 NCBI chrNW_004936490:17,605,865...17,614,754
Ensembl chrNW_004936490:17,605,865...17,615,145
JBrowse link
G Gaa alpha glucosidase ISO SMPDB SMP:00182 NCBI chrNW_004936594:4,125,595...4,142,261 JBrowse link
G Gale UDP-galactose-4-epimerase ISO SMPDB SMP:00182 NCBI chrNW_004936474:8,949,814...8,954,269
Ensembl chrNW_004936474:8,949,798...8,954,315
JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00182 NCBI chrNW_004936594:944,936...950,537
Ensembl chrNW_004936594:944,944...949,838
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00182 NCBI chrNW_004936524:2,726,795...2,730,049
Ensembl chrNW_004936524:2,726,749...2,730,564
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00182 NCBI chrNW_004936478:19,104,477...19,118,915
Ensembl chrNW_004936478:19,105,361...19,158,733
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00182 NCBI chrNW_004936813:474,938...484,753
Ensembl chrNW_004936813:474,949...484,760
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00182 NCBI chrNW_004936473:23,348,431...23,440,271
Ensembl chrNW_004936473:23,348,416...23,440,196
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00182 NCBI chrNW_004936521:9,067,062...9,139,112
Ensembl chrNW_004936521:9,066,999...9,159,793
JBrowse link
G Lct lactase ISO SMPDB SMP:00182 NCBI chrNW_004936469:40,064,822...40,108,423
Ensembl chrNW_004936469:40,064,822...40,107,447
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00182 NCBI chrNW_004936692:1,160,836...1,221,270
Ensembl chrNW_004936692:1,160,623...1,221,746
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00182 NCBI chrNW_004936491:8,773,910...8,834,984
Ensembl chrNW_004936491:8,773,892...8,837,661
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_004936474:8,949,814...8,954,269
Ensembl chrNW_004936474:8,949,798...8,954,315
JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00496 NCBI chrNW_004936594:944,936...950,537
Ensembl chrNW_004936594:944,944...949,838
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00496 NCBI chrNW_004936524:2,726,795...2,730,049
Ensembl chrNW_004936524:2,726,749...2,730,564
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00496 NCBI chrNW_004936478:19,104,477...19,118,915
Ensembl chrNW_004936478:19,105,361...19,158,733
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00496 NCBI chrNW_004936692:1,160,836...1,221,270
Ensembl chrNW_004936692:1,160,623...1,221,746
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00496 NCBI chrNW_004936482:7,090,241...7,118,315
Ensembl chrNW_004936482:7,089,621...7,118,284
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00496 NCBI chrNW_004936491:8,773,910...8,834,984
Ensembl chrNW_004936491:8,773,892...8,837,661
JBrowse link
G Uxs1 UDP-glucuronate decarboxylase 1 ISO SMPDB SMP:00496 NCBI chrNW_004936729:5,056...99,755
Ensembl chrNW_004936729:4,916...99,818
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_004936588:3,688,244...3,705,831
Ensembl chrNW_004936588:3,688,244...3,705,831
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00349 NCBI chrNW_004936498:5,496,991...5,653,206
Ensembl chrNW_004936498:5,496,991...5,653,206
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00349 NCBI chrNW_004936629:187,281...205,493
Ensembl chrNW_004936629:187,275...191,008
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00349 NCBI chrNW_004936682:1,535,617...1,590,723
Ensembl chrNW_004936682:1,535,586...1,593,827
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00349 NCBI chrNW_004936629:3,304,236...3,346,264
Ensembl chrNW_004936629:3,304,236...3,344,136
JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00349 NCBI chrNW_004936604:3,821,672...3,839,975
Ensembl chrNW_004936604:3,817,886...3,839,986
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00349 NCBI chrNW_004936594:3,855,071...3,864,034
Ensembl chrNW_004936594:3,855,150...3,858,317
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00349 NCBI chrNW_004936904:142,576...158,606
Ensembl chrNW_004936904:142,387...159,633
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00349 NCBI chrNW_004936488:15,444,184...15,519,395
Ensembl chrNW_004936488:15,444,801...15,518,856
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00349 NCBI chrNW_004936580:4,715,869...4,720,752
Ensembl chrNW_004936580:4,715,408...4,720,798
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00349 NCBI chrNW_004936813:474,938...484,753
Ensembl chrNW_004936813:474,949...484,760
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00349 NCBI chrNW_004936473:23,348,431...23,440,271
Ensembl chrNW_004936473:23,348,416...23,440,196
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00349 NCBI chrNW_004936497:2,169,982...2,199,600
Ensembl chrNW_004936497:2,169,712...2,203,150
JBrowse link
G LOC101967158 serine palmitoyltransferase 2 ISO SMPDB SMP:00349 NCBI chrNW_004936488:6,313,189...6,404,425
Ensembl chrNW_004936488:6,289,833...6,296,849
Ensembl chrNW_004936488:6,289,833...6,296,849
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00349 NCBI chrNW_004936498:3,897,511...3,915,013
Ensembl chrNW_004936498:3,897,485...3,910,115
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00349 NCBI chrNW_004936480:12,265,304...12,357,747
Ensembl chrNW_004936480:12,265,246...12,359,450
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00349 NCBI chrNW_004936735:1,702,754...1,984,141
Ensembl chrNW_004936735:1,943,352...1,984,141
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00349 NCBI chrNW_004936521:7,850,370...7,899,998
Ensembl chrNW_004936521:7,848,972...7,900,041
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00349 NCBI chrNW_004936569:4,405,804...4,518,637
Ensembl chrNW_004936569:4,406,253...4,518,655
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00349 NCBI chrNW_004936664:2,668,708...2,676,608
Ensembl chrNW_004936664:2,669,920...2,676,587
JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00349 NCBI chrNW_004936796:886,946...948,254
Ensembl chrNW_004936796:886,922...948,254
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00349 NCBI chrNW_004936559:1,475,684...1,513,273
Ensembl chrNW_004936559:1,475,592...1,513,273
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00349 NCBI chrNW_004936563:5,251,451...5,305,683
Ensembl chrNW_004936563:5,224,173...5,306,120
JBrowse link
glutaric aciduria type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadat aminoadipate aminotransferase ISO SMPDB SMP:00186 NCBI chrNW_004936516:2,030,032...2,052,025
Ensembl chrNW_004936516:2,029,715...2,052,041
JBrowse link
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00186 NCBI chrNW_004936605:3,135,977...3,190,956
Ensembl chrNW_004936605:3,136,018...3,190,948
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00185 NCBI chrNW_004936497:13,242,644...13,269,007
Ensembl chrNW_004936497:13,242,644...13,269,532
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00185 NCBI chrNW_004936845:66,674...96,248
Ensembl chrNW_004936845:66,241...96,249
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00185 NCBI chrNW_004936571:2,761,254...2,797,045 JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00185 NCBI chrNW_004936668:257,214...272,089
Ensembl chrNW_004936668:254,595...272,118
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00185 NCBI chrNW_004936486:11,668,099...11,707,946
Ensembl chrNW_004936486:11,668,099...11,711,786
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00185 NCBI chrNW_004936595:514,883...520,223
Ensembl chrNW_004936595:514,534...520,223
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chrNW_004936551:594,647...626,016
Ensembl chrNW_004936551:591,695...626,056
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00185 NCBI chrNW_004936554:4,425,518...4,484,853
Ensembl chrNW_004936554:4,425,495...4,484,887
JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00186 NCBI chrNW_004936575:6,467,224...6,506,052
Ensembl chrNW_004936575:6,467,340...6,506,006
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00185 NCBI chrNW_004936599:1,491,934...1,535,101
Ensembl chrNW_004936599:1,482,172...1,535,119
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00185 NCBI chrNW_004936522:7,858,172...7,875,679
Ensembl chrNW_004936522:7,856,087...7,875,685
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00186 NCBI chrNW_004936484:3,207,650...3,251,661
Ensembl chrNW_004936484:3,208,198...3,251,896
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00186 NCBI chrNW_004936479:16,247,230...16,271,597
Ensembl chrNW_004936479:16,243,829...16,271,616
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00186 NCBI chrNW_004936488:4,038,985...4,061,071
Ensembl chrNW_004936488:4,038,985...4,061,087
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chrNW_004936486:19,488,619...19,496,583
Ensembl chrNW_004936486:19,488,554...19,496,575
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00185 SMP:00186 NCBI chrNW_004936659:1,955,601...1,961,925
Ensembl chrNW_004936659:1,955,559...1,962,758
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00186 NCBI chrNW_004936818:575,272...623,496
Ensembl chrNW_004936818:575,023...623,568
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00185 NCBI chrNW_004936493:6,182,786...6,224,601
Ensembl chrNW_004936493:6,182,261...6,224,693
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00185 NCBI chrNW_004936493:6,139,717...6,182,792
Ensembl chrNW_004936493:6,137,970...6,182,792
JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00186 NCBI chrNW_004936538:5,218,097...5,252,579
Ensembl chrNW_004936538:5,228,418...5,242,668
JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00186 NCBI chrNW_004936614:111,625...184,571
Ensembl chrNW_004936614:157,828...184,583
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_004936474:5,217,601...5,246,718
Ensembl chrNW_004936474:5,218,686...5,246,664
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004936543:7,688,788...7,699,842
Ensembl chrNW_004936543:7,688,741...7,699,851
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004936487:17,482,307...17,527,407
Ensembl chrNW_004936487:17,486,826...17,527,435
JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004936621:1,612,398...1,615,821
Ensembl chrNW_004936621:1,612,393...1,615,822
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004936586:5,739,038...5,850,317
Ensembl chrNW_004936586:5,739,337...5,850,312
JBrowse link
G Dao D-amino acid oxidase ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004936769:744,862...758,086
Ensembl chrNW_004936769:744,864...758,452
JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004936650:2,145,614...2,219,812
Ensembl chrNW_004936650:2,145,607...2,220,019
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004936588:721,436...724,475
Ensembl chrNW_004936588:721,313...724,524
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004936471:8,017,611...8,032,703
Ensembl chrNW_004936471:8,017,603...8,032,703
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004936636:617,376...640,424
Ensembl chrNW_004936636:617,356...640,932
JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004936558:5,162,471...5,302,488
Ensembl chrNW_004936558:5,233,459...5,301,414
JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004936486:12,723,363...12,743,367
Ensembl chrNW_004936486:12,723,305...12,743,422
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004936502:5,234,253...5,291,891
Ensembl chrNW_004936502:5,234,253...5,291,891
JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004936498:3,313,572...3,346,888
Ensembl chrNW_004936498:3,313,586...3,346,888
JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004936526:2,721,579...2,726,699
Ensembl chrNW_004936526:2,720,521...2,726,762
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004936510:4,281,847...4,343,271
Ensembl chrNW_004936510:4,281,626...4,343,276
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00188 SMP:00504 NCBI chrNW_004936565:5,113,625...5,133,318
Ensembl chrNW_004936565:5,115,600...5,133,345
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_004936474:5,217,601...5,246,718
Ensembl chrNW_004936474:5,218,686...5,246,664
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00363 NCBI chrNW_004936543:7,688,788...7,699,842
Ensembl chrNW_004936543:7,688,741...7,699,851
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00363 NCBI chrNW_004936487:17,482,307...17,527,407
Ensembl chrNW_004936487:17,486,826...17,527,435
JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00363 NCBI chrNW_004936621:1,612,398...1,615,821
Ensembl chrNW_004936621:1,612,393...1,615,822
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00363 NCBI chrNW_004936586:5,739,038...5,850,317
Ensembl chrNW_004936586:5,739,337...5,850,312
JBrowse link
G Dao D-amino acid oxidase ISO SMPDB SMP:00363 NCBI chrNW_004936769:744,862...758,086
Ensembl chrNW_004936769:744,864...758,452
JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00363 NCBI chrNW_004936650:2,145,614...2,219,812
Ensembl chrNW_004936650:2,145,607...2,220,019
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00363 NCBI chrNW_004936588:721,436...724,475
Ensembl chrNW_004936588:721,313...724,524
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00363 NCBI chrNW_004936471:8,017,611...8,032,703
Ensembl chrNW_004936471:8,017,603...8,032,703
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00363 NCBI chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00363 NCBI chrNW_004936636:617,376...640,424
Ensembl chrNW_004936636:617,356...640,932
JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00363 NCBI chrNW_004936558:5,162,471...5,302,488
Ensembl chrNW_004936558:5,233,459...5,301,414
JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00363 NCBI chrNW_004936486:12,723,363...12,743,367
Ensembl chrNW_004936486:12,723,305...12,743,422
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00363 NCBI chrNW_004936502:5,234,253...5,291,891
Ensembl chrNW_004936502:5,234,253...5,291,891
JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00363 NCBI chrNW_004936498:3,313,572...3,346,888
Ensembl chrNW_004936498:3,313,586...3,346,888
JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00363 NCBI chrNW_004936526:2,721,579...2,726,699
Ensembl chrNW_004936526:2,720,521...2,726,762
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00363 NCBI chrNW_004936510:4,281,847...4,343,271
Ensembl chrNW_004936510:4,281,626...4,343,276
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00363 NCBI chrNW_004936565:5,113,625...5,133,318
Ensembl chrNW_004936565:5,115,600...5,133,345
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_004936478:7,146,997...7,160,369
Ensembl chrNW_004936478:7,147,027...7,160,401
JBrowse link
G Aqp2 aquaporin 2 ISO SMPDB SMP:00189 NCBI chrNW_004936512:7,628,677...7,633,344
Ensembl chrNW_004936512:7,628,495...7,634,107
JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO SMPDB SMP:00189 NCBI chrNW_004936524:1,963,427...1,969,977
Ensembl chrNW_004936524:1,963,247...1,969,998
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00189 NCBI chrNW_004936627:1,555,151...1,584,370
Ensembl chrNW_004936627:1,554,873...1,584,638
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO SMPDB SMP:00189 NCBI chrNW_004936740:489,357...514,235
Ensembl chrNW_004936740:488,154...514,308
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00189 NCBI chrNW_004936706:476,473...494,659
Ensembl chrNW_004936706:477,107...495,525
JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00189 NCBI chrNW_004936481:17,438,146...17,460,329
Ensembl chrNW_004936481:17,436,270...17,460,348
JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00189 NCBI chrNW_004936595:908,019...914,426
Ensembl chrNW_004936595:907,919...915,053
JBrowse link
G Atp1b3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00189 NCBI chrNW_004936540:3,621,656...3,640,885 JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00189 NCBI chrNW_004936479:9,648,315...9,666,782
Ensembl chrNW_004936479:9,650,598...9,666,782
JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO SMPDB SMP:00189 NCBI chrNW_004936474:3,591,134...3,601,562 JBrowse link
G Fxyd2 FXYD domain containing ion transport regulator 2 ISO SMPDB SMP:00189 NCBI chrNW_004936542:2,956,784...2,961,076
Ensembl chrNW_004936542:2,956,785...2,963,506
JBrowse link
G LOC101965929 urea transporter 2 ISO SMPDB SMP:00189 NCBI chrNW_004936517:1,060,311...1,104,775
Ensembl chrNW_004936517:1,061,119...1,104,768
JBrowse link
G LOC101966280 sodium/potassium-transporting ATPase subunit alpha-4 ISO SMPDB SMP:00189 NCBI chrNW_004936740:445,952...478,580
Ensembl chrNW_004936740:445,952...478,532
JBrowse link
G Nr3c2 nuclear receptor subfamily 3 group C member 2 ISO SMPDB SMP:00189 NCBI chrNW_004936535:1,139,687...1,467,469
Ensembl chrNW_004936535:1,140,178...1,467,471
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00189 NCBI chrNW_004936709:1,377,852...1,403,398
Ensembl chrNW_004936709:1,377,831...1,403,833
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00189 NCBI chrNW_004936501:8,021,090...8,065,245
Ensembl chrNW_004936501:8,020,316...8,065,332
JBrowse link
G Scnn1d sodium channel epithelial 1 subunit delta ISO SMPDB SMP:00189 NCBI chrNW_004936737:1,851,185...1,854,923 JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00189 NCBI chrNW_004936501:7,932,729...7,958,146
Ensembl chrNW_004936501:7,932,703...7,958,204
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO SMPDB SMP:00189 NCBI chrNW_004936471:10,564,530...10,648,124
Ensembl chrNW_004936471:10,564,535...10,646,977
JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO SMPDB SMP:00189 NCBI chrNW_004936475:9,044,099...9,076,301
Ensembl chrNW_004936475:9,044,106...9,076,307
JBrowse link
G Slc12a6 solute carrier family 12 member 6 ISO SMPDB SMP:00189 NCBI chrNW_004936673:2,731,454...2,825,179
Ensembl chrNW_004936673:2,727,884...2,824,977
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO SMPDB SMP:00189 NCBI chrNW_004936503:613,250...690,555
Ensembl chrNW_004936503:613,223...690,721
JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO SMPDB SMP:00189 NCBI chrNW_004936489:11,605,403...11,627,786
Ensembl chrNW_004936489:11,594,480...11,627,786
JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO SMPDB SMP:00189 NCBI chrNW_004936581:348,719...356,246
Ensembl chrNW_004936581:349,057...356,059
JBrowse link
G Slc38a4 solute carrier family 38 member 4 ISO SMPDB SMP:00189 NCBI chrNW_004936512:4,867,276...4,929,175
Ensembl chrNW_004936512:4,865,769...4,929,166
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO SMPDB SMP:00189 NCBI chrNW_004936508:7,672,274...7,703,962
Ensembl chrNW_004936508:7,672,223...7,703,961
JBrowse link
G Slc3a2 solute carrier family 3 member 2 ISO SMPDB SMP:00189 NCBI chrNW_004936581:424,801...441,592 JBrowse link
G Slc6a20 solute carrier family 6 member 20 ISO SMPDB SMP:00189 NCBI chrNW_004936695:146,571...193,428
Ensembl chrNW_004936695:146,421...195,121
JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO SMPDB SMP:00189 NCBI chrNW_004936641:1,513,110...1,538,955 JBrowse link
G Slc7a6 solute carrier family 7 member 6 ISO SMPDB SMP:00189 NCBI chrNW_004936475:18,587,058...18,624,757
Ensembl chrNW_004936475:18,586,931...18,625,137
JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO SMPDB SMP:00189 NCBI chrNW_004936722:1,464,252...1,523,786
Ensembl chrNW_004936722:1,478,240...1,527,121
JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO SMPDB SMP:00189 NCBI chrNW_004936722:1,143,405...1,202,407
Ensembl chrNW_004936722:1,143,309...1,202,514
JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO SMPDB SMP:00189 NCBI chrNW_004936570:2,917,389...2,944,452
Ensembl chrNW_004936570:2,917,709...2,944,158
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_004936530:7,543,743...7,621,392
Ensembl chrNW_004936530:7,543,682...7,622,667
JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00385 NCBI chrNW_004936474:5,217,601...5,246,718
Ensembl chrNW_004936474:5,218,686...5,246,664
JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family member A1 ISO SMPDB SMP:00385 NCBI chrNW_004936671:843,577...865,798
Ensembl chrNW_004936671:843,577...865,881
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00385 NCBI chrNW_004936493:5,308,268...5,332,934
Ensembl chrNW_004936493:5,310,228...5,332,918
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00385 NCBI chrNW_004936586:5,739,038...5,850,317
Ensembl chrNW_004936586:5,739,337...5,850,312
JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00385 NCBI chrNW_004936501:8,190,466...8,209,320
Ensembl chrNW_004936501:8,188,071...8,209,386
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00385 NCBI chrNW_004936509:1,160,559...1,201,037
Ensembl chrNW_004936509:1,161,094...1,201,576
JBrowse link
G Gclc glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00385 NCBI chrNW_004936476:7,371,270...7,418,756
Ensembl chrNW_004936476:7,371,149...7,418,958
JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00385 NCBI chrNW_004936491:13,603,256...13,665,298
Ensembl chrNW_004936491:13,603,256...13,665,275
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00385 NCBI chrNW_004936646:825,957...842,184
Ensembl chrNW_004936646:823,682...842,199
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00385 NCBI chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Glul glutamate-ammonia ligase ISO SMPDB SMP:00385 NCBI chrNW_004936481:7,293,301...7,301,416
Ensembl chrNW_004936481:7,293,091...7,306,202
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00385 NCBI chrNW_004936519:3,094,763...3,143,322
Ensembl chrNW_004936519:3,104,701...3,141,549
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00385 NCBI chrNW_004936697:2,079,396...2,087,602
Ensembl chrNW_004936697:2,079,470...2,086,877
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00385 NCBI chrNW_004936470:7,765,810...7,770,837
Ensembl chrNW_004936470:7,765,703...7,768,465
JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00385 NCBI chrNW_004936792:531,076...579,083
Ensembl chrNW_004936792:531,756...579,166
JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00385 NCBI chrNW_004936561:5,765,637...5,793,951
Ensembl chrNW_004936561:5,765,610...5,793,567
JBrowse link
G LOC101977655 glutamate--cysteine ligase regulatory subunit ISO SMPDB SMP:00385 NCBI chrNW_004936537:5,356,914...5,378,998 JBrowse link
G Nadsyn1 NAD synthetase 1 ISO SMPDB SMP:00385 NCBI chrNW_004936794:1,394,975...1,423,807
Ensembl chrNW_004936794:1,396,703...1,423,709
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00385 NCBI chrNW_004936491:15,183,493...15,193,069
Ensembl chrNW_004936491:15,183,804...15,192,950
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00385 NCBI chrNW_004936482:18,606,124...18,648,989
Ensembl chrNW_004936482:18,606,124...18,648,681
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00385 NCBI chrNW_004936529:802,753...810,270
Ensembl chrNW_004936529:802,759...810,265
JBrowse link
Huntington's disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101966195 huntingtin ISO RGD PMID:21163446 PMID:26938440 RGD:11062152 RGD:11062153 NCBI chrNW_004936477:20,443,101...20,577,167
Ensembl chrNW_004936477:20,443,113...20,577,071
Ensembl chrNW_004936477:20,443,113...20,577,071
JBrowse link
G Syne3 spectrin repeat containing nuclear envelope family member 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chrNW_004936846:791,852...835,791
Ensembl chrNW_004936846:795,486...835,797
JBrowse link
hyperargininemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asl argininosuccinate lyase ISO SMPDB SMP:00357 NCBI chrNW_004936543:7,688,788...7,699,842
Ensembl chrNW_004936543:7,688,741...7,699,851
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00357 NCBI chrNW_004936487:17,482,307...17,527,407
Ensembl chrNW_004936487:17,486,826...17,527,435
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00357 NCBI chrNW_004936586:5,739,038...5,850,317
Ensembl chrNW_004936586:5,739,337...5,850,312
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00357 NCBI chrNW_004936646:825,957...842,184
Ensembl chrNW_004936646:823,682...842,199
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00357 NCBI chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00357 NCBI chrNW_004936470:7,765,810...7,770,837
Ensembl chrNW_004936470:7,765,703...7,768,465
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00357 NCBI chrNW_004936502:5,234,253...5,291,891
Ensembl chrNW_004936502:5,234,253...5,291,891
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00357 NCBI chrNW_004936491:9,761,002...9,790,535
Ensembl chrNW_004936491:9,760,952...9,790,536
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00357 NCBI chrNW_004936664:599,012...610,689
Ensembl chrNW_004936664:598,468...610,698
JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00357 NCBI chrNW_004936509:1,994,082...2,077,731
Ensembl chrNW_004936509:1,990,116...2,077,938
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00357 NCBI chrNW_004936565:5,113,625...5,133,318
Ensembl chrNW_004936565:5,115,600...5,133,345
JBrowse link
hyperlysinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadat aminoadipate aminotransferase ISO SMPDB SMP:00527 NCBI chrNW_004936516:2,030,032...2,052,025
Ensembl chrNW_004936516:2,029,715...2,052,041
JBrowse link
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00527 NCBI chrNW_004936605:3,135,977...3,190,956
Ensembl chrNW_004936605:3,136,018...3,190,948
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00527 NCBI chrNW_004936551:594,647...626,016
Ensembl chrNW_004936551:591,695...626,056
JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00527 NCBI chrNW_004936575:6,467,224...6,506,052
Ensembl chrNW_004936575:6,467,340...6,506,006
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00527 NCBI chrNW_004936484:3,207,650...3,251,661
Ensembl chrNW_004936484:3,208,198...3,251,896
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00527 NCBI chrNW_004936479:16,247,230...16,271,597
Ensembl chrNW_004936479:16,243,829...16,271,616
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00527 NCBI chrNW_004936488:4,038,985...4,061,071
Ensembl chrNW_004936488:4,038,985...4,061,087
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00527 NCBI chrNW_004936486:19,488,619...19,496,583
Ensembl chrNW_004936486:19,488,554...19,496,575
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chrNW_004936659:1,955,601...1,961,925
Ensembl chrNW_004936659:1,955,559...1,962,758
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chrNW_004936818:575,272...623,496
Ensembl chrNW_004936818:575,023...623,568
JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00527 NCBI chrNW_004936538:5,218,097...5,252,579
Ensembl chrNW_004936538:5,228,418...5,242,668
JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00527 NCBI chrNW_004936614:111,625...184,571
Ensembl chrNW_004936614:157,828...184,583
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_004936635:485,903...647,820
Ensembl chrNW_004936635:485,903...647,932
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_004936588:3,688,244...3,705,831
Ensembl chrNW_004936588:3,688,244...3,705,831
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00348 NCBI chrNW_004936498:5,496,991...5,653,206
Ensembl chrNW_004936498:5,496,991...5,653,206
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00348 NCBI chrNW_004936629:187,281...205,493
Ensembl chrNW_004936629:187,275...191,008
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00348 NCBI chrNW_004936682:1,535,617...1,590,723
Ensembl chrNW_004936682:1,535,586...1,593,827
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00348 NCBI chrNW_004936629:3,304,236...3,346,264
Ensembl chrNW_004936629:3,304,236...3,344,136
JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00348 NCBI chrNW_004936604:3,821,672...3,839,975
Ensembl chrNW_004936604:3,817,886...3,839,986
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00348 NCBI chrNW_004936594:3,855,071...3,864,034
Ensembl chrNW_004936594:3,855,150...3,858,317
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00348 NCBI chrNW_004936904:142,576...158,606
Ensembl chrNW_004936904:142,387...159,633
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00348 NCBI chrNW_004936488:15,444,184...15,519,395
Ensembl chrNW_004936488:15,444,801...15,518,856
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00348 NCBI chrNW_004936580:4,715,869...4,720,752
Ensembl chrNW_004936580:4,715,408...4,720,798
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00348 NCBI chrNW_004936813:474,938...484,753
Ensembl chrNW_004936813:474,949...484,760
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00348 NCBI chrNW_004936473:23,348,431...23,440,271
Ensembl chrNW_004936473:23,348,416...23,440,196
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00348 NCBI chrNW_004936497:2,169,982...2,199,600
Ensembl chrNW_004936497:2,169,712...2,203,150
JBrowse link
G LOC101967158 serine palmitoyltransferase 2 ISO SMPDB SMP:00348 NCBI chrNW_004936488:6,313,189...6,404,425
Ensembl chrNW_004936488:6,289,833...6,296,849
Ensembl chrNW_004936488:6,289,833...6,296,849
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00348 NCBI chrNW_004936498:3,897,511...3,915,013
Ensembl chrNW_004936498:3,897,485...3,910,115
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00348 NCBI chrNW_004936480:12,265,304...12,357,747
Ensembl chrNW_004936480:12,265,246...12,359,450
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00348 NCBI chrNW_004936735:1,702,754...1,984,141
Ensembl chrNW_004936735:1,943,352...1,984,141
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00348 NCBI chrNW_004936521:7,850,370...7,899,998
Ensembl chrNW_004936521:7,848,972...7,900,041
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00348 NCBI chrNW_004936569:4,405,804...4,518,637
Ensembl chrNW_004936569:4,406,253...4,518,655
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00348 NCBI chrNW_004936664:2,668,708...2,676,608
Ensembl chrNW_004936664:2,669,920...2,676,587
JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00348 NCBI chrNW_004936796:886,946...948,254
Ensembl chrNW_004936796:886,922...948,254
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00348 NCBI chrNW_004936559:1,475,684...1,513,273
Ensembl chrNW_004936559:1,475,592...1,513,273
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00348 NCBI chrNW_004936563:5,251,451...5,305,683
Ensembl chrNW_004936563:5,224,173...5,306,120
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_004936490:927,769...1,191,483
Ensembl chrNW_004936490:927,769...1,191,481
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00196 NCBI chrNW_004936551:594,647...626,016
Ensembl chrNW_004936551:591,695...626,056
JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00196 NCBI chrNW_004936469:635,663...681,373
Ensembl chrNW_004936469:636,315...681,376
JBrowse link
G Acss2 acyl-CoA synthetase short chain family member 2 ISO SMPDB SMP:00196 NCBI chrNW_004936561:5,794,685...5,842,619
Ensembl chrNW_004936561:5,795,077...5,842,676
JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00196 NCBI chrNW_004936488:4,196,977...4,211,552 JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00196 NCBI chrNW_004936579:1,312,175...1,328,397 JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00196 NCBI chrNW_004936558:4,362,693...4,387,705
Ensembl chrNW_004936558:4,362,654...4,390,414
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00196 NCBI chrNW_004936612:2,395,452...2,437,592
Ensembl chrNW_004936612:2,393,071...2,437,522
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00196 NCBI chrNW_004936479:16,247,230...16,271,597
Ensembl chrNW_004936479:16,243,829...16,271,616
JBrowse link
G Glo1 glyoxalase I ISO SMPDB SMP:00196 NCBI chrNW_004936476:20,910,696...20,928,583
Ensembl chrNW_004936476:20,910,629...20,930,295
JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00196 NCBI chrNW_004936524:5,208,793...5,219,555
Ensembl chrNW_004936524:5,208,492...5,219,970
JBrowse link
G Hagh hydroxyacylglutathione hydrolase ISO SMPDB SMP:00196 NCBI chrNW_004936694:2,181,475...2,200,469
Ensembl chrNW_004936694:2,181,501...2,194,007
JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00196 NCBI chrNW_004936475:23,920,204...23,923,846
Ensembl chrNW_004936475:23,916,584...23,923,886
JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00196 NCBI chrNW_004936491:8,570,472...8,586,914
Ensembl chrNW_004936491:8,570,472...8,587,686
JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00196 NCBI chrNW_004936510:7,425,983...7,571,090
Ensembl chrNW_004936510:7,426,347...7,571,553
JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00196 NCBI chrNW_004936497:12,352,406...12,414,014
Ensembl chrNW_004936497:12,353,053...12,401,125
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00196 NCBI chrNW_004936599:2,677,770...2,793,033
Ensembl chrNW_004936599:2,677,583...2,793,197
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00196 NCBI chrNW_004936530:361,872...367,005
Ensembl chrNW_004936530:361,872...367,005
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00196 NCBI chrNW_004936844:889,720...906,631
Ensembl chrNW_004936844:889,635...909,586
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00196 NCBI chrNW_004936473:2,580,642...2,586,266
Ensembl chrNW_004936473:2,580,618...2,586,266
JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00196 NCBI chrNW_004936580:4,770,977...4,799,316
Ensembl chrNW_004936580:4,767,109...4,779,916
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_004936530:2,217,713...2,224,070 JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00364 NCBI chrNW_004936481:18,274,158...18,330,136
Ensembl chrNW_004936481:18,274,154...18,330,173
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00364 NCBI chrNW_004936492:1,423,780...1,440,825 JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00364 NCBI chrNW_004936526:6,342,233...6,380,736
Ensembl chrNW_004936526:6,342,221...6,380,840
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00364 NCBI chrNW_004936487:15,507,663...15,517,401
Ensembl chrNW_004936487:15,507,498...15,517,469
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00364 NCBI chrNW_004936627:33,350...57,231
Ensembl chrNW_004936627:33,350...57,166
JBrowse link
G Aprt adenine phosphoribosyltransferase ISO SMPDB SMP:00364 NCBI chrNW_004936641:913,674...916,312
Ensembl chrNW_004936641:913,475...918,748
JBrowse link
G Atad1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00364 NCBI chrNW_004936735:1,377,168...1,423,696
Ensembl chrNW_004936735:1,376,526...1,422,126
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00364 NCBI chrNW_004936586:1,782,581...1,809,458
Ensembl chrNW_004936586:1,782,528...1,810,010
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00364 NCBI chrNW_004936556:226,643...263,517
Ensembl chrNW_004936556:226,627...264,905
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00364 NCBI chrNW_004936488:3,241,004...3,280,360
Ensembl chrNW_004936488:3,237,772...3,279,947
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00364 NCBI chrNW_004936669:629,400...632,898
Ensembl chrNW_004936669:615,375...634,309
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00364 NCBI chrNW_004936500:8,750,928...8,782,303
Ensembl chrNW_004936500:8,753,463...8,786,236
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00364 NCBI chrNW_004936503:8,191,925...8,279,806
Ensembl chrNW_004936503:8,192,049...8,278,790
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00364 NCBI chrNW_004936552:2,458,728...2,496,145
Ensembl chrNW_004936552:2,458,698...2,497,191
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00364 NCBI chrNW_004936519:3,094,763...3,143,322
Ensembl chrNW_004936519:3,104,701...3,141,549
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00364 NCBI chrNW_004936551:1,573,930...1,814,685
Ensembl chrNW_004936551:1,575,356...1,814,697
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00364 NCBI chrNW_004936576:2,427,451...2,469,946
Ensembl chrNW_004936576:2,427,416...2,470,072
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00364 NCBI chrNW_004936864:76,707...86,479
Ensembl chrNW_004936864:76,128...79,520
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00364 NCBI chrNW_004936691:650,753...694,362
Ensembl chrNW_004936691:652,769...694,463
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00364 NCBI chrNW_004936479:15,523,342...15,540,229
Ensembl chrNW_004936479:15,523,037...15,540,173
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00364 NCBI chrNW_004936485:15,499,688...15,511,992
Ensembl chrNW_004936485:15,497,822...15,511,992
JBrowse link
G LOC101961407 phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00364 NCBI chrNW_004936482:18,649,093...18,664,629
Ensembl chrNW_004936482:18,626,015...18,667,164
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00364 NCBI chrNW_004936529:88,929...96,207
Ensembl chrNW_004936529:88,949...96,236
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00364 NCBI chrNW_004936600:2,828,277...2,892,795 JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00364 NCBI chrNW_004936524:2,438,947...2,452,647
Ensembl chrNW_004936524:2,441,860...2,454,174
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00364 NCBI chrNW_004936484:3,148,955...3,169,527
Ensembl chrNW_004936484:3,156,586...3,169,146
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00364 NCBI chrNW_004936489:15,401,248...15,671,594
Ensembl chrNW_004936489:15,400,629...15,671,600
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00364 NCBI chrNW_004936480:8,123,437...9,235,586
Ensembl chrNW_004936480:8,204,701...9,234,865
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00364 NCBI chrNW_004936595:1,483,688...1,499,716
Ensembl chrNW_004936595:1,483,689...1,501,364
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00364 NCBI chrNW_004936877:686,539...692,832 JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00364 NCBI chrNW_004936482:18,606,124...18,648,989
Ensembl chrNW_004936482:18,606,124...18,648,681
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00364 NCBI chrNW_004936546:4,332,773...4,333,738 JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00364 NCBI chrNW_004936498:815,401...848,749
Ensembl chrNW_004936498:815,399...848,793
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00364 NCBI chrNW_004936532:6,348,041...6,390,144 JBrowse link
G Txn thioredoxin ISO SMPDB SMP:00364 NCBI chrNW_004936559:2,811,786...2,822,528
Ensembl chrNW_004936559:2,811,782...2,822,528
JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00364 NCBI chrNW_004936493:1,762,814...1,824,501
Ensembl chrNW_004936493:1,762,869...1,823,238
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_004936530:7,543,743...7,621,392
Ensembl chrNW_004936530:7,543,682...7,622,667
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00199 NCBI chrNW_004936497:13,242,644...13,269,007
Ensembl chrNW_004936497:13,242,644...13,269,532
JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00199 NCBI chrNW_004936684:1,572,386...1,591,231
Ensembl chrNW_004936684:1,575,955...1,591,212
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00199 NCBI chrNW_004936571:2,761,254...2,797,045 JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00199 NCBI chrNW_004936668:257,214...272,089
Ensembl chrNW_004936668:254,595...272,118
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00199 NCBI chrNW_004936486:11,668,099...11,707,946
Ensembl chrNW_004936486:11,668,099...11,711,786
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00199 NCBI chrNW_004936551:594,647...626,016
Ensembl chrNW_004936551:591,695...626,056
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00199 NCBI chrNW_004936558:4,362,693...4,387,705
Ensembl chrNW_004936558:4,362,654...4,390,414
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00199 NCBI chrNW_004936488:3,320,357...3,340,463
Ensembl chrNW_004936488:3,318,422...3,340,626
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00199 NCBI chrNW_004936825:263,725...332,424
Ensembl chrNW_004936825:263,081...332,622
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00199 NCBI chrNW_004936796:160,335...302,458
Ensembl chrNW_004936796:161,003...303,250
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00199 NCBI chrNW_004936548:2,385,756...2,454,423 JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00199 NCBI chrNW_004936661:3,799,998...3,817,560
Ensembl chrNW_004936661:3,799,955...3,819,851
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00199 NCBI chrNW_004936510:9,904,703...10,081,532
Ensembl chrNW_004936510:9,902,670...10,081,587
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00199 NCBI chrNW_004936748:342,655...386,017
Ensembl chrNW_004936748:342,394...386,000
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00199 NCBI chrNW_004936479:16,247,230...16,271,597
Ensembl chrNW_004936479:16,243,829...16,271,616
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00199 NCBI chrNW_004936486:19,488,619...19,496,583
Ensembl chrNW_004936486:19,488,554...19,496,575
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00199 NCBI chrNW_004936478:4,118,752...4,219,908 JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00199 NCBI chrNW_004936506:7,811,624...7,882,861
Ensembl chrNW_004936506:7,811,600...7,882,642
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00199 NCBI chrNW_004936474:8,955,216...8,971,078
Ensembl chrNW_004936474:8,954,379...8,971,132
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00199 NCBI chrNW_004936627:4,451,847...4,473,163
Ensembl chrNW_004936627:4,451,823...4,473,223
JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00199 NCBI chrNW_004936751:399,743...402,200
Ensembl chrNW_004936751:399,701...402,344
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00199 NCBI chrNW_004936471:3,871,152...3,883,521
Ensembl chrNW_004936471:3,871,148...3,885,241
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00199 NCBI chrNW_004936566:409,558...468,898
Ensembl chrNW_004936566:409,462...469,225
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00199 NCBI chrNW_004936549:4,760,073...4,830,190
Ensembl chrNW_004936549:4,755,546...4,830,242
JBrowse link
G Mcee methylmalonyl-CoA epimerase ISO SMPDB SMP:00199 NCBI chrNW_004936483:971,148...990,634
Ensembl chrNW_004936483:970,452...990,638
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00199 NCBI chrNW_004936476:11,208,251...11,241,648
Ensembl chrNW_004936476:11,208,267...11,241,648
JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00199 NCBI chrNW_004936518:924,840...1,057,201 JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00199 NCBI chrNW_004936472:10,167,387...10,501,824
Ensembl chrNW_004936472:10,164,642...10,501,878
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00199 NCBI chrNW_004936529:9,106,525...9,166,311
Ensembl chrNW_004936529:9,106,496...9,176,394
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_004936588:3,688,244...3,705,831
Ensembl chrNW_004936588:3,688,244...3,705,831
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00347 NCBI chrNW_004936498:5,496,991...5,653,206
Ensembl chrNW_004936498:5,496,991...5,653,206
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00347 NCBI chrNW_004936629:187,281...205,493
Ensembl chrNW_004936629:187,275...191,008
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00347 NCBI chrNW_004936682:1,535,617...1,590,723
Ensembl chrNW_004936682:1,535,586...1,593,827
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00347 NCBI chrNW_004936629:3,304,236...3,346,264
Ensembl chrNW_004936629:3,304,236...3,344,136
JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00347 NCBI chrNW_004936604:3,821,672...3,839,975
Ensembl chrNW_004936604:3,817,886...3,839,986
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00347 NCBI chrNW_004936594:3,855,071...3,864,034
Ensembl chrNW_004936594:3,855,150...3,858,317
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00347 NCBI chrNW_004936904:142,576...158,606
Ensembl chrNW_004936904:142,387...159,633
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00347 NCBI chrNW_004936488:15,444,184...15,519,395
Ensembl chrNW_004936488:15,444,801...15,518,856
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00347 NCBI chrNW_004936580:4,715,869...4,720,752
Ensembl chrNW_004936580:4,715,408...4,720,798
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00347 NCBI chrNW_004936813:474,938...484,753
Ensembl chrNW_004936813:474,949...484,760
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00347 NCBI chrNW_004936473:23,348,431...23,440,271
Ensembl chrNW_004936473:23,348,416...23,440,196
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00347 NCBI chrNW_004936497:2,169,982...2,199,600
Ensembl chrNW_004936497:2,169,712...2,203,150
JBrowse link
G LOC101967158 serine palmitoyltransferase 2 ISO SMPDB SMP:00347 NCBI chrNW_004936488:6,313,189...6,404,425
Ensembl chrNW_004936488:6,289,833...6,296,849
Ensembl chrNW_004936488:6,289,833...6,296,849
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00347 NCBI chrNW_004936498:3,897,511...3,915,013
Ensembl chrNW_004936498:3,897,485...3,910,115
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00347 NCBI chrNW_004936480:12,265,304...12,357,747
Ensembl chrNW_004936480:12,265,246...12,359,450
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00347 NCBI chrNW_004936735:1,702,754...1,984,141
Ensembl chrNW_004936735:1,943,352...1,984,141
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00347 NCBI chrNW_004936521:7,850,370...7,899,998
Ensembl chrNW_004936521:7,848,972...7,900,041
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00347 NCBI chrNW_004936569:4,405,804...4,518,637
Ensembl chrNW_004936569:4,406,253...4,518,655
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00347 NCBI chrNW_004936664:2,668,708...2,676,608
Ensembl chrNW_004936664:2,669,920...2,676,587
JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00347 NCBI chrNW_004936796:886,946...948,254
Ensembl chrNW_004936796:886,922...948,254
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00347 NCBI chrNW_004936559:1,475,684...1,513,273
Ensembl chrNW_004936559:1,475,592...1,513,273
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00347 NCBI chrNW_004936563:5,251,451...5,305,683
Ensembl chrNW_004936563:5,224,173...5,306,120
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_004936561:6,314,797...6,333,961
Ensembl chrNW_004936561:6,314,705...6,334,439
JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00340 NCBI chrNW_004936564:6,656,789...6,675,564
Ensembl chrNW_004936564:6,656,746...6,673,462
JBrowse link
G Cbs cystathionine beta-synthase ISO SMPDB SMP:00340 NCBI chrNW_004936500:976,043...1,003,559
Ensembl chrNW_004936500:987,128...1,003,388
JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00340 NCBI chrNW_004936473:4,479,942...4,512,369
Ensembl chrNW_004936473:4,482,170...4,506,763
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00340 NCBI chrNW_004936591:1,619,446...1,643,667
Ensembl chrNW_004936591:1,619,446...1,643,665
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00340 NCBI chrNW_004936659:520,181...565,496
Ensembl chrNW_004936659:520,493...565,416
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00340 NCBI chrNW_004936664:3,674,612...3,715,036
Ensembl chrNW_004936664:3,675,805...3,686,262
JBrowse link
G LOC101972215 betaine--homocysteine S-methyltransferase 1 ISO SMPDB SMP:00340 NCBI chrNW_004936549:6,938,100...6,956,380
Ensembl chrNW_004936549:6,938,092...6,957,363
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00340 NCBI chrNW_004936646:1,644,457...1,665,081
Ensembl chrNW_004936646:1,644,457...1,665,086
JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00340 NCBI chrNW_004936712:1,710,513...1,717,339
Ensembl chrNW_004936712:1,709,716...1,717,499
JBrowse link
G Mat2b methionine adenosyltransferase 2 non-catalytic beta subunit ISO SMPDB SMP:00340 NCBI chrNW_004936515:544,218...561,014
Ensembl chrNW_004936515:544,037...561,182
JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00340 NCBI chrNW_004936520:5,035,442...5,052,736 JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00340 NCBI chrNW_004936545:3,480,995...3,637,913
Ensembl chrNW_004936545:3,480,853...3,640,924
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00340 NCBI chrNW_004936652:3,431,588...3,468,770
Ensembl chrNW_004936652:3,431,171...3,472,071
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00340 NCBI chrNW_004936471:25,334,544...25,352,520
Ensembl chrNW_004936471:25,335,068...25,352,480
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00340 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00340 NCBI chrNW_004936484:16,087,924...16,180,089
Ensembl chrNW_004936484:16,087,923...16,180,148
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00340 NCBI chrNW_004936741:1,849,239...1,877,724
Ensembl chrNW_004936741:1,849,609...1,877,727
JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00340 NCBI chrNW_004936474:121,135...124,894
Ensembl chrNW_004936474:118,000...124,963
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_004936489:11,255,871...11,273,848
Ensembl chrNW_004936489:11,255,871...11,283,216
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004936522:6,423,561...6,447,363
Ensembl chrNW_004936522:6,423,561...6,444,814
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004936721:508,716...515,968
Ensembl chrNW_004936721:509,374...515,918
JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004936628:3,599,435...3,600,061 JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004936580:4,799,354...4,808,406 JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004936484:17,104,437...17,115,897
Ensembl chrNW_004936484:17,104,750...17,110,059
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004936549:1,378,536...1,400,501
Ensembl chrNW_004936549:1,378,736...1,400,532
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004936480:18,862,288...18,882,614
Ensembl chrNW_004936480:18,862,238...18,882,616
JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004936831:951,603...976,159
Ensembl chrNW_004936831:951,562...977,208
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004936484:13,054,155...13,061,935 JBrowse link
G LOC101955024 lanosterol 14-alpha demethylase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004936621:2,209,255...2,232,404
Ensembl chrNW_004936621:2,209,199...2,232,531
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004936778:323,120...351,100
Ensembl chrNW_004936778:323,014...351,102
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004936555:664,171...678,082
Ensembl chrNW_004936555:664,158...678,208
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004936641:1,030,465...1,035,967
Ensembl chrNW_004936641:1,030,595...1,035,954
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004936769:1,274,595...1,295,186
Ensembl chrNW_004936769:1,274,540...1,298,178
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004936714:246,574...273,930
Ensembl chrNW_004936714:246,551...273,912
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004936580:4,473,554...4,482,396
Ensembl chrNW_004936580:4,473,359...4,482,631
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004936542:6,046,425...6,062,825
Ensembl chrNW_004936542:6,046,390...6,059,074
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004936481:9,614,605...9,669,705
Ensembl chrNW_004936481:9,616,850...9,669,705
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004936470:22,726,793...22,752,429
Ensembl chrNW_004936470:22,725,888...22,752,500
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00509 SMP:00510 NCBI chrNW_004936599:4,253,725...4,258,198
Ensembl chrNW_004936599:4,253,735...4,258,071
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_004936745:856,915...867,477
Ensembl chrNW_004936745:857,102...867,477
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936529:3,518,337...3,531,842
Ensembl chrNW_004936529:3,518,322...3,531,845
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936558:4,362,693...4,387,705
Ensembl chrNW_004936558:4,362,654...4,390,414
JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936529:1,049,364...1,054,458 JBrowse link
G Cbs cystathionine beta-synthase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936500:976,043...1,003,559
Ensembl chrNW_004936500:987,128...1,003,388
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936591:1,619,446...1,643,667
Ensembl chrNW_004936591:1,619,446...1,643,665
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936479:16,247,230...16,271,597
Ensembl chrNW_004936479:16,243,829...16,271,616
JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936549:6,838,773...6,899,961
Ensembl chrNW_004936549:6,839,295...6,899,911
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936588:721,436...724,475
Ensembl chrNW_004936588:721,313...724,524
JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936478:6,848,448...6,889,103
Ensembl chrNW_004936478:6,848,322...6,889,045
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936471:8,017,611...8,032,703
Ensembl chrNW_004936471:8,017,603...8,032,703
JBrowse link
G Gcat glycine C-acetyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936492:3,307,015...3,313,441
Ensembl chrNW_004936492:3,304,031...3,313,475
JBrowse link
G Gldc glycine decarboxylase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936539:1,008,340...1,095,044
Ensembl chrNW_004936539:1,007,820...1,095,054
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936529:3,627,194...3,635,568
Ensembl chrNW_004936529:3,628,822...3,635,236
JBrowse link
G Gnmt glycine N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936476:16,961,734...16,965,487
Ensembl chrNW_004936476:16,957,270...16,965,346
JBrowse link
G LOC101972215 betaine--homocysteine S-methyltransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936549:6,938,100...6,956,380
Ensembl chrNW_004936549:6,938,092...6,957,363
JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936502:9,816,443...9,888,002
Ensembl chrNW_004936502:9,815,319...9,888,026
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936627:4,414,122...4,448,347
Ensembl chrNW_004936627:4,414,122...4,448,623
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936632:4,392,165...4,422,670
Ensembl chrNW_004936632:4,391,459...4,423,264
JBrowse link
G Psph phosphoserine phosphatase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936543:7,900,319...7,922,529
Ensembl chrNW_004936543:7,900,283...7,922,541
JBrowse link
G Sardh sarcosine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936669:3,244,302...3,297,906
Ensembl chrNW_004936669:3,243,762...3,297,905
JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936704:747,109...766,981
Ensembl chrNW_004936704:746,775...771,305
JBrowse link
G Sds serine dehydratase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936668:3,208,810...3,213,465
Ensembl chrNW_004936668:3,206,458...3,215,617
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936741:1,849,239...1,877,724
Ensembl chrNW_004936741:1,849,609...1,877,727
JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936646:1,422,844...1,427,929
Ensembl chrNW_004936646:1,422,817...1,429,037
JBrowse link
G Srr serine racemase ISO SMPDB SMP:00223 SMP:00485 NCBI chrNW_004936538:8,362,033...8,383,820 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_004936474:5,217,601...5,246,718
Ensembl chrNW_004936474:5,218,686...5,246,664
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00506 NCBI chrNW_004936543:7,688,788...7,699,842
Ensembl chrNW_004936543:7,688,741...7,699,851
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00506 NCBI chrNW_004936487:17,482,307...17,527,407
Ensembl chrNW_004936487:17,486,826...17,527,435
JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00506 NCBI chrNW_004936621:1,612,398...1,615,821
Ensembl chrNW_004936621:1,612,393...1,615,822
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00506 NCBI chrNW_004936586:5,739,038...5,850,317
Ensembl chrNW_004936586:5,739,337...5,850,312
JBrowse link
G Dao D-amino acid oxidase ISO SMPDB SMP:00506 NCBI chrNW_004936769:744,862...758,086
Ensembl chrNW_004936769:744,864...758,452
JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00506 NCBI chrNW_004936650:2,145,614...2,219,812
Ensembl chrNW_004936650:2,145,607...2,220,019
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00506 NCBI chrNW_004936588:721,436...724,475
Ensembl chrNW_004936588:721,313...724,524
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00506 NCBI chrNW_004936471:8,017,611...8,032,703
Ensembl chrNW_004936471:8,017,603...8,032,703
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00506 NCBI chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00506 NCBI chrNW_004936636:617,376...640,424
Ensembl chrNW_004936636:617,356...640,932
JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00506 NCBI chrNW_004936558:5,162,471...5,302,488
Ensembl chrNW_004936558:5,233,459...5,301,414
JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00506 NCBI chrNW_004936486:12,723,363...12,743,367
Ensembl chrNW_004936486:12,723,305...12,743,422
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00506 NCBI chrNW_004936502:5,234,253...5,291,891
Ensembl chrNW_004936502:5,234,253...5,291,891
JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00506 NCBI chrNW_004936498:3,313,572...3,346,888
Ensembl chrNW_004936498:3,313,586...3,346,888
JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00506 NCBI chrNW_004936526:2,721,579...2,726,699
Ensembl chrNW_004936526:2,720,521...2,726,762
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00506 NCBI chrNW_004936510:4,281,847...4,343,271
Ensembl chrNW_004936510:4,281,626...4,343,276
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00506 NCBI chrNW_004936565:5,113,625...5,133,318
Ensembl chrNW_004936565:5,115,600...5,133,345
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_004936474:3,968,216...3,980,821
Ensembl chrNW_004936474:3,968,506...3,980,815
JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO RGD PMID:25701813 RGD:10450845 NCBI chrNW_004936529:5,768,229...5,883,841
Ensembl chrNW_004936529:5,785,538...5,883,097
JBrowse link
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO RGD PMID:25302295 PMID:25639775 RGD:10450521 RGD:10450553 NCBI chrNW_004936692:2,788,477...2,836,094
Ensembl chrNW_004936692:2,741,632...2,834,078
JBrowse link
G Fbxo7 F-box protein 7 ISO RGD PMID:26223426 RGD:10450518 NCBI chrNW_004936492:7,261,442...7,276,779
Ensembl chrNW_004936492:7,261,009...7,276,943
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO RGD PMID:25639775 PMID:26223426 RGD:10450518 RGD:10450521 NCBI chrNW_004936580:4,715,869...4,720,752
Ensembl chrNW_004936580:4,715,408...4,720,798
JBrowse link
G Lrrk2 leucine rich repeat kinase 2 ISO RGD PMID:25639775 PMID:26223426 RGD:10450518 RGD:10450521 NCBI chrNW_004936607:628,469...761,117
Ensembl chrNW_004936607:626,991...761,123
JBrowse link
G Maob monoamine oxidase B ISO RGD PMID:9129714 RGD:1358484 NCBI chrNW_004936502:9,907,181...10,014,756
Ensembl chrNW_004936502:9,907,180...10,014,773
JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:11809160 RGD:1358519 NCBI chrNW_004936558:5,162,471...5,302,488
Ensembl chrNW_004936558:5,233,459...5,301,414
JBrowse link
G Nr4a2 nuclear receptor subfamily 4 group A member 2 ISO RGD PMID:11914402 RGD:1358553 NCBI chrNW_004936469:21,912,118...21,920,486
Ensembl chrNW_004936469:21,912,047...21,920,486
JBrowse link
G Park7 Parkinsonism associated deglycase ISO RGD PMID:23766857 RGD:10450523 NCBI chrNW_004936623:2,422,780...2,436,817
Ensembl chrNW_004936623:2,422,833...2,436,817
JBrowse link
G Pink1 PTEN induced kinase 1 ISO RGD PMID:24735649 PMID:25639775 PMID:26223426 RGD:10450518 RGD:10450521 RGD:10450527 NCBI chrNW_004936474:6,574,471...6,589,478
Ensembl chrNW_004936474:6,573,623...6,589,478
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_004936489:12,118,538...12,913,664
Ensembl chrNW_004936489:12,120,678...13,327,872
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_004936685:2,077,017...2,175,298
Ensembl chrNW_004936685:2,076,651...2,175,338
JBrowse link
G Synj1 synaptojanin 1 ISO RGD PMID:25302295 PMID:25639775 RGD:10450521 RGD:10450553 NCBI chrNW_004936500:9,484,571...9,565,980
Ensembl chrNW_004936500:9,484,586...9,566,100
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_004936475:50,476...77,797
Ensembl chrNW_004936475:50,321...78,097
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_004936471:38,140,324...38,174,472
Ensembl chrNW_004936471:38,140,273...38,174,702
JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00206 NCBI chrNW_004936659:1,982,343...1,990,277
Ensembl chrNW_004936659:1,981,723...1,990,322
JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00206 NCBI chrNW_004936569:4,524,525...4,604,539
Ensembl chrNW_004936569:4,523,046...4,604,560
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00206 NCBI chrNW_004936636:617,376...640,424
Ensembl chrNW_004936636:617,356...640,932
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00206 NCBI chrNW_004936488:6,141,913...6,153,591
Ensembl chrNW_004936488:6,141,317...6,154,075
JBrowse link
G Hgd homogentisate 1,2-dioxygenase ISO SMPDB SMP:00206 NCBI chrNW_004936536:7,314,548...7,359,426
Ensembl chrNW_004936536:7,314,754...7,352,222
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00206 NCBI chrNW_004936664:3,674,612...3,715,036
Ensembl chrNW_004936664:3,675,805...3,686,262
JBrowse link
G Pah phenylalanine hydroxylase ISO SMPDB SMP:00206 NCBI chrNW_004936492:11,342,566...11,412,323
Ensembl chrNW_004936492:11,342,518...11,412,209
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00206 NCBI chrNW_004936475:22,190,282...22,199,398
Ensembl chrNW_004936475:22,189,728...22,199,672
JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00206 NCBI chrNW_004936474:15,691,838...15,721,308
Ensembl chrNW_004936474:15,691,842...15,721,953
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_004936809:615,133...634,618
Ensembl chrNW_004936809:615,139...635,990
JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00451 NCBI chrNW_004936607:1,292,964...1,345,671
Ensembl chrNW_004936607:1,292,888...1,343,334
JBrowse link
G Aldh3a2 aldehyde dehydrogenase 3 family member A2 ISO SMPDB SMP:00451 NCBI chrNW_004936881:127,090...150,269
Ensembl chrNW_004936881:127,023...150,292
JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO SMPDB SMP:00451 NCBI chrNW_004936473:2,823,183...2,856,077
Ensembl chrNW_004936473:2,823,123...2,856,077
JBrowse link
G Slc27a2 solute carrier family 27 member 2 ISO SMPDB SMP:00451 NCBI chrNW_004936471:12,259,779...12,298,760
Ensembl chrNW_004936471:12,259,734...12,298,760
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_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527
JBrowse link
G Best1 bestrophin 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936581:1,120,681...1,132,226
Ensembl chrNW_004936581:1,120,474...1,132,230
JBrowse link
G Clrn1 clarin 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936758:1,250,831...1,286,016
Ensembl chrNW_004936758:1,250,769...1,285,376
JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936482:14,091,343...14,107,793
Ensembl chrNW_004936482:14,091,913...14,107,787
JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936475:9,844,438...9,908,009 JBrowse link
G Guca1b guanylate cyclase activator 1B ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936476:17,679,505...17,688,970
Ensembl chrNW_004936476:17,679,500...17,691,037
JBrowse link
G LOC101960714 cone-rod homeobox protein ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936664:1,408,618...1,419,096
Ensembl chrNW_004936664:1,409,229...1,419,234
JBrowse link
G LOC101963575 eyes shut homolog ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936476:158,391...1,289,639 JBrowse link
G LOC101969963 cadherin-23 ISO RGD PMID:20212494 RGD:8547536 NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842
JBrowse link
G Lrat lecithin retinol acyltransferase ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936576:1,491,480...1,498,568
Ensembl chrNW_004936576:1,492,297...1,501,917
JBrowse link
G Myo7a myosin VIIA ISO RGD PMID:20212494 RGD:8547536 NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378
JBrowse link
G Nr2e3 nuclear receptor subfamily 2 group E member 3 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936471:31,229,322...31,236,093
Ensembl chrNW_004936471:31,229,564...31,235,654
JBrowse link
G Pcdh15 protocadherin related 15 ISO RGD PMID:20212494 RGD:8547536 NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089
JBrowse link
G Pde6a phosphodiesterase 6A ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936504:5,018,171...5,088,333
Ensembl chrNW_004936504:5,018,064...5,092,024
JBrowse link
G Pde6b phosphodiesterase 6B ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936477:22,418,037...22,472,251
Ensembl chrNW_004936477:22,417,453...22,472,185
JBrowse link
G Pde6g phosphodiesterase 6G ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936594:5,263,345...5,267,240
Ensembl chrNW_004936594:5,263,333...5,267,476
JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936994:239,688...252,269
Ensembl chrNW_004936994:239,682...252,317
JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936538:7,780,022...7,814,575
Ensembl chrNW_004936538:7,780,022...7,814,575
JBrowse link
G Prph2 peripherin 2 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981
JBrowse link
G Rbp3 retinol binding protein 3 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936554:7,329,155...7,340,434
Ensembl chrNW_004936554:7,329,028...7,338,074
JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936495:11,111,247...11,121,976
Ensembl chrNW_004936495:11,111,105...11,121,341
JBrowse link
G Rho rhodopsin ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936602:896,730...901,480
Ensembl chrNW_004936602:894,617...901,664
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936483:15,086,485...15,097,980
Ensembl chrNW_004936483:15,084,756...15,096,072
JBrowse link
G Rp1 RP1 axonemal microtubule associated ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936496:1,524,123...1,583,114 JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936591:3,347,346...3,368,062
Ensembl chrNW_004936591:3,347,272...3,368,015
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936502:5,163,164...5,212,940 JBrowse link
G Sag S-antigen visual arrestin ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936525:3,932,118...3,965,651
Ensembl chrNW_004936525:3,931,933...3,964,834
JBrowse link
G Tulp1 TUB like protein 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936476:23,744,707...23,757,002
Ensembl chrNW_004936476:23,744,757...23,756,565
JBrowse link
G Ush1c USH1 protein network component harmonin ISO RGD PMID:20212494 RGD:8547536 NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801
JBrowse link
G Ush1g USH1 protein network component sans ISO RGD PMID:20212494 RGD:8547536 NCBI chrNW_004936594:258,115...262,739
Ensembl chrNW_004936594:259,030...262,778
JBrowse link
G Ush2a usherin ISO RGD PMID:23701314 RGD:8547535 NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872
JBrowse link
saccharopinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadat aminoadipate aminotransferase ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004936516:2,030,032...2,052,025
Ensembl chrNW_004936516:2,029,715...2,052,041
JBrowse link
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004936605:3,135,977...3,190,956
Ensembl chrNW_004936605:3,136,018...3,190,948
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004936551:594,647...626,016
Ensembl chrNW_004936551:591,695...626,056
JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004936575:6,467,224...6,506,052
Ensembl chrNW_004936575:6,467,340...6,506,006
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004936484:3,207,650...3,251,661
Ensembl chrNW_004936484:3,208,198...3,251,896
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004936479:16,247,230...16,271,597
Ensembl chrNW_004936479:16,243,829...16,271,616
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004936488:4,038,985...4,061,071
Ensembl chrNW_004936488:4,038,985...4,061,087
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004936486:19,488,619...19,496,583
Ensembl chrNW_004936486:19,488,554...19,496,575
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004936659:1,955,601...1,961,925
Ensembl chrNW_004936659:1,955,559...1,962,758
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004936818:575,272...623,496
Ensembl chrNW_004936818:575,023...623,568
JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004936538:5,218,097...5,252,579
Ensembl chrNW_004936538:5,228,418...5,242,668
JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00239 SMP:00528 NCBI chrNW_004936614:111,625...184,571
Ensembl chrNW_004936614:157,828...184,583
JBrowse link
Segawa syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1b1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00490 NCBI chrNW_004936579:1,312,175...1,328,397 JBrowse link
G Cbr1 carbonyl reductase 1 ISO SMPDB SMP:00490 NCBI chrNW_004936500:6,569,708...6,591,266
Ensembl chrNW_004936500:6,458,721...6,591,928
JBrowse link
G Dhfr dihydrofolate reductase ISO SMPDB SMP:00490 NCBI chrNW_004936469:67,962...83,116 JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO SMPDB SMP:00490 NCBI chrNW_004936697:232,048...275,420 JBrowse link
G Gchfr GTP cyclohydrolase I feedback regulator ISO SMPDB SMP:00490 NCBI chrNW_004936471:4,166,923...4,171,676
Ensembl chrNW_004936471:4,166,506...4,171,713
JBrowse link
G Pts 6-pyruvoyltetrahydropterin synthase ISO SMPDB SMP:00490 NCBI chrNW_004936612:2,247,825...2,255,277
Ensembl chrNW_004936612:2,246,878...2,253,675
JBrowse link
G Qdpr quinoid dihydropteridine reductase ISO SMPDB SMP:00490 NCBI chrNW_004936477:10,687,328...10,708,015
Ensembl chrNW_004936477:10,687,276...10,708,031
JBrowse link
G Spr sepiapterin reductase ISO SMPDB SMP:00490 NCBI chrNW_004936491:16,693,940...16,699,040 JBrowse link
sialic acid storage disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chit1 chitinase 1 ISO SMPDB SMP:00240 NCBI chrNW_004936567:1,373,727...1,385,694
Ensembl chrNW_004936567:1,376,768...1,385,616
JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00240 NCBI chrNW_004936548:4,877,753...4,895,768
Ensembl chrNW_004936548:4,877,530...4,895,822
JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00240 NCBI chrNW_004936491:13,603,256...13,665,298
Ensembl chrNW_004936491:13,603,256...13,665,275
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00240 NCBI chrNW_004936524:4,184,831...4,234,257
Ensembl chrNW_004936524:4,196,830...4,252,163
JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00240 NCBI chrNW_004936504:12,181,544...12,192,596 JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00240 NCBI chrNW_004936697:2,079,396...2,087,602
Ensembl chrNW_004936697:2,079,470...2,086,877
JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00240 NCBI chrNW_004936471:31,712,485...31,738,273
Ensembl chrNW_004936471:31,709,491...31,738,245
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00240 NCBI chrNW_004936521:9,067,062...9,139,112
Ensembl chrNW_004936521:9,066,999...9,159,793
JBrowse link
G LOC101977071 sialin ISO SMPDB SMP:00240 NCBI chrNW_004936859:668,900...684,207 JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00240 NCBI chrNW_004936491:15,183,493...15,193,069
Ensembl chrNW_004936491:15,183,804...15,192,950
JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00240 NCBI chrNW_004936620:235,013...245,138
Ensembl chrNW_004936620:234,964...246,803
JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00240 NCBI chrNW_004936524:6,772,831...6,791,854
Ensembl chrNW_004936524:6,772,796...6,791,902
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00240 NCBI chrNW_004936481:6,942,128...6,977,042
Ensembl chrNW_004936481:6,942,282...6,972,775
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00240 NCBI chrNW_004936510:7,586,817...7,622,586
Ensembl chrNW_004936510:7,586,837...7,609,267
JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00240 NCBI chrNW_004936809:817,392...823,926
Ensembl chrNW_004936809:817,355...823,941
JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00240 NCBI chrNW_004936831:733,072...770,495
Ensembl chrNW_004936831:732,967...771,478
JBrowse link
Tay-Sachs disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chit1 chitinase 1 ISO SMPDB SMP:00390 NCBI chrNW_004936567:1,373,727...1,385,694
Ensembl chrNW_004936567:1,376,768...1,385,616
JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00390 NCBI chrNW_004936548:4,877,753...4,895,768
Ensembl chrNW_004936548:4,877,530...4,895,822
JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00390 NCBI chrNW_004936491:13,603,256...13,665,298
Ensembl chrNW_004936491:13,603,256...13,665,275
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00390 NCBI chrNW_004936524:4,184,831...4,234,257
Ensembl chrNW_004936524:4,196,830...4,252,163
JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00390 NCBI chrNW_004936504:12,181,544...12,192,596 JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00390 NCBI chrNW_004936697:2,079,396...2,087,602
Ensembl chrNW_004936697:2,079,470...2,086,877
JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00390 NCBI chrNW_004936471:31,712,485...31,738,273
Ensembl chrNW_004936471:31,709,491...31,738,245
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00390 NCBI chrNW_004936521:9,067,062...9,139,112
Ensembl chrNW_004936521:9,066,999...9,159,793
JBrowse link
G LOC101977071 sialin ISO SMPDB SMP:00390 NCBI chrNW_004936859:668,900...684,207 JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00390 NCBI chrNW_004936491:15,183,493...15,193,069
Ensembl chrNW_004936491:15,183,804...15,192,950
JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00390 NCBI chrNW_004936620:235,013...245,138
Ensembl chrNW_004936620:234,964...246,803
JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00390 NCBI chrNW_004936524:6,772,831...6,791,854
Ensembl chrNW_004936524:6,772,796...6,791,902
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00390 NCBI chrNW_004936481:6,942,128...6,977,042
Ensembl chrNW_004936481:6,942,282...6,972,775
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00390 NCBI chrNW_004936510:7,586,817...7,622,586
Ensembl chrNW_004936510:7,586,837...7,609,267
JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00390 NCBI chrNW_004936809:817,392...823,926
Ensembl chrNW_004936809:817,355...823,941
JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00390 NCBI chrNW_004936831:733,072...770,495
Ensembl chrNW_004936831:732,967...771,478
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_004936881:71,047...77,543
Ensembl chrNW_004936881:70,951...77,839
JBrowse link
G Aoc1 amine oxidase copper containing 1 ISO SMPDB SMP:00218 NCBI chrNW_004936527:6,309,210...6,312,869
Ensembl chrNW_004936527:6,308,682...6,312,815
JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00218 NCBI chrNW_004936619:3,847,059...3,883,866
Ensembl chrNW_004936619:3,876,299...3,882,747
JBrowse link
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00218 NCBI chrNW_004936669:3,302,014...3,326,233
Ensembl chrNW_004936669:3,301,802...3,320,643
JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00218 NCBI chrNW_004936472:15,074,947...15,110,427
Ensembl chrNW_004936472:15,074,633...15,110,534
JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00218 NCBI chrNW_004936686:1,322,153...1,405,434
Ensembl chrNW_004936686:1,301,207...1,405,384
JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00218 NCBI chrNW_004936471:38,140,324...38,174,472
Ensembl chrNW_004936471:38,140,273...38,174,702
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00218 NCBI chrNW_004936636:617,376...640,424
Ensembl chrNW_004936636:617,356...640,932
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00218 NCBI chrNW_004936488:6,141,913...6,153,591
Ensembl chrNW_004936488:6,141,317...6,154,075
JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00218 NCBI chrNW_004936508:8,971,516...8,987,235
Ensembl chrNW_004936508:8,971,477...8,986,404
JBrowse link
G Hgd homogentisate 1,2-dioxygenase ISO SMPDB SMP:00218 NCBI chrNW_004936536:7,314,548...7,359,426
Ensembl chrNW_004936536:7,314,754...7,352,222
JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00218 NCBI chrNW_004936502:9,816,443...9,888,002
Ensembl chrNW_004936502:9,815,319...9,888,026
JBrowse link
G Mif macrophage migration inhibitory factor ISO SMPDB SMP:00218 NCBI chrNW_004936619:1,207,058...1,208,010
Ensembl chrNW_004936619:1,203,746...1,208,442
JBrowse link
G Pnmt phenylethanolamine N-methyltransferase ISO SMPDB SMP:00218 NCBI chrNW_004936490:14,858,682...14,861,614
Ensembl chrNW_004936490:14,858,603...14,865,321
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00218 NCBI chrNW_004936475:22,190,282...22,199,398
Ensembl chrNW_004936475:22,189,728...22,199,672
JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00218 NCBI chrNW_004936736:421,623...519,085
Ensembl chrNW_004936736:421,598...519,253
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_004936471:38,140,324...38,174,472
Ensembl chrNW_004936471:38,140,273...38,174,702
JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00369 NCBI chrNW_004936659:1,982,343...1,990,277
Ensembl chrNW_004936659:1,981,723...1,990,322
JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00369 NCBI chrNW_004936569:4,524,525...4,604,539
Ensembl chrNW_004936569:4,523,046...4,604,560
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00369 NCBI chrNW_004936636:617,376...640,424
Ensembl chrNW_004936636:617,356...640,932
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00369 NCBI chrNW_004936488:6,141,913...6,153,591
Ensembl chrNW_004936488:6,141,317...6,154,075
JBrowse link
G Hgd homogentisate 1,2-dioxygenase ISO SMPDB SMP:00369 NCBI chrNW_004936536:7,314,548...7,359,426
Ensembl chrNW_004936536:7,314,754...7,352,222
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00369 NCBI chrNW_004936664:3,674,612...3,715,036
Ensembl chrNW_004936664:3,675,805...3,686,262
JBrowse link
G Pah phenylalanine hydroxylase ISO SMPDB SMP:00369 NCBI chrNW_004936492:11,342,566...11,412,323
Ensembl chrNW_004936492:11,342,518...11,412,209
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00369 NCBI chrNW_004936475:22,190,282...22,199,398
Ensembl chrNW_004936475:22,189,728...22,199,672
JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00369 NCBI chrNW_004936474:15,691,838...15,721,308
Ensembl chrNW_004936474:15,691,842...15,721,953
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_004936763:1,225,355...1,308,257
Ensembl chrNW_004936763:1,226,482...1,297,427
JBrowse link
G Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) ISO SMPDB SMP:00434 NCBI chrNW_004936501:3,400,971...3,467,061
Ensembl chrNW_004936501:3,401,285...3,470,460
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO SMPDB SMP:00434 NCBI chrNW_004936636:292,631...341,999
Ensembl chrNW_004936636:292,709...340,393
JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00370 NCBI chrNW_004936471:38,140,324...38,174,472
Ensembl chrNW_004936471:38,140,273...38,174,702
JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00370 NCBI chrNW_004936659:1,982,343...1,990,277
Ensembl chrNW_004936659:1,981,723...1,990,322
JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00370 NCBI chrNW_004936569:4,524,525...4,604,539
Ensembl chrNW_004936569:4,523,046...4,604,560
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00370 NCBI chrNW_004936636:617,376...640,424
Ensembl chrNW_004936636:617,356...640,932
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00370 NCBI chrNW_004936488:6,141,913...6,153,591
Ensembl chrNW_004936488:6,141,317...6,154,075
JBrowse link
G Hgd homogentisate 1,2-dioxygenase ISO SMPDB SMP:00370 NCBI chrNW_004936536:7,314,548...7,359,426
Ensembl chrNW_004936536:7,314,754...7,352,222
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00370 NCBI chrNW_004936664:3,674,612...3,715,036
Ensembl chrNW_004936664:3,675,805...3,686,262
JBrowse link
G LOC101973055 tubulin alpha-1B chain ISO SMPDB SMP:00434 NCBI chrNW_004936512:6,926,634...6,930,481
Ensembl chrNW_004936512:6,926,820...6,930,307
JBrowse link
G Pah phenylalanine hydroxylase ISO SMPDB SMP:00370 NCBI chrNW_004936492:11,342,566...11,412,323
Ensembl chrNW_004936492:11,342,518...11,412,209
JBrowse link
G Slco1b3 solute carrier organic anion transporter family member 1B3 ISO SMPDB SMP:00434 NCBI chrNW_004936548:5,593,908...5,682,187 JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00370 NCBI chrNW_004936475:22,190,282...22,199,398
Ensembl chrNW_004936475:22,189,728...22,199,672
JBrowse link
G Tubb1 tubulin beta 1 class VI ISO SMPDB SMP:00434 NCBI chrNW_004936530:1,500,415...1,506,187
Ensembl chrNW_004936530:1,500,437...1,506,071
JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00370 NCBI chrNW_004936474:15,691,838...15,721,308
Ensembl chrNW_004936474:15,691,842...15,721,953
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_004936473:2,494,568...2,525,956
Ensembl chrNW_004936473:2,494,554...2,526,787
JBrowse link
G Akr1d1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00316 NCBI chrNW_004936592:2,486,219...2,522,796
Ensembl chrNW_004936592:2,491,681...2,522,796
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00316 NCBI chrNW_004936518:7,072,436...7,088,927
Ensembl chrNW_004936518:7,072,403...7,088,929
JBrowse link
G Baat bile acid-CoA:amino acid N-acyltransferase ISO SMPDB SMP:00316 NCBI chrNW_004936524:9,536,032...9,544,901
Ensembl chrNW_004936524:9,536,010...9,545,076
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00316 NCBI chrNW_004936601:5,015,922...5,016,942
Ensembl chrNW_004936601:5,015,219...5,160,908
JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00316 NCBI chrNW_004936715:2,357,215...2,446,601
Ensembl chrNW_004936715:2,357,274...2,446,271
JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00316 NCBI chrNW_004936501:13,363,630...13,367,553
Ensembl chrNW_004936501:13,363,576...13,367,553
JBrowse link
G LOC101955077 cytochrome P450 7B1 ISO SMPDB SMP:00316 NCBI chrNW_004936496:8,900,320...9,072,109
Ensembl chrNW_004936496:8,899,965...9,072,089
JBrowse link
G LOC101961079 cholesterol 24-hydroxylase ISO SMPDB SMP:00316 NCBI chrNW_004936604:3,451,853...3,490,688
Ensembl chrNW_004936604:3,451,842...3,491,159
JBrowse link
G LOC101963150 sterol 26-hydroxylase, mitochondrial ISO SMPDB SMP:00316 NCBI chrNW_004936569:1,213,700...1,250,181
Ensembl chrNW_004936569:1,213,573...1,250,589
JBrowse link
G LOC101970910 cytochrome P450 7A1 ISO SMPDB SMP:00316 NCBI chrNW_004936496:4,599,138...4,605,653
Ensembl chrNW_004936496:4,599,138...4,605,653
JBrowse link
G LOC101972335 24-hydroxycholesterol 7-alpha-hydroxylase ISO SMPDB SMP:00316 NCBI chrNW_004936476:13,697,598...13,819,362
Ensembl chrNW_004936476:13,697,583...13,819,109
JBrowse link
G LOC101977223 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase ISO SMPDB SMP:00316 NCBI chrNW_004936695:2,263,868...2,265,373
Ensembl chrNW_004936695:2,263,868...2,265,373
JBrowse link
G Scp2 sterol carrier protein 2 ISO SMPDB SMP:00316 NCBI chrNW_004936522:8,004,503...8,110,995
Ensembl chrNW_004936522:8,005,442...8,110,889
JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00316 NCBI chrNW_004937062:90,217...98,562
Ensembl chrNW_004937062:89,664...98,113
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 3951
    disease pathway 688
      nervous system disease pathway 434
        autonomic nervous system disease pathway + 16
        brain disease pathway + 341
        cerebrovascular disease pathway + 1
        movement disorder pathway + 80
        neurodegenerative pathway + 41
        neurological disorder pathway + 69
        sensory system disease pathway + 86
paths to the root