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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:inborn genetic disease pathway
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Accession:PW:0001477 term browser browse the term
Definition:Those diseases that are caused by genetic mutations present during fetal development and that may be inherited from a parent or acquired in utero. The mutations can disrupt one or several pathways that give rise to a broad spectrum of conditions affecting many types of organs and/or tissues.


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11-beta-hydroxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00575 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326 		JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00575 NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO SMPDB SMP:00575 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO SMPDB SMP:00575 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004 		JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO SMPDB SMP:00575 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO SMPDB SMP:00575 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00575 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00575 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899 		JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO SMPDB SMP:00575 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999 		JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00575 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852 		JBrowse link
17-alpha-hydroxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00372 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326 		JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00372 NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO SMPDB SMP:00372 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO SMPDB SMP:00372 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004 		JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO SMPDB SMP:00372 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO SMPDB SMP:00372 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00372 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00372 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899 		JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO SMPDB SMP:00372 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999 		JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00372 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852 		JBrowse link
2-aminoadipic 2-oxoadipic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadat aminoadipate aminotransferase ISO SMPDB SMP:00719 NCBI chr16:29,509,392...29,544,332
Ensembl chr16:29,509,394...29,544,332 		JBrowse link
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00719 NCBI chr 4:51,606,461...51,663,136
Ensembl chr 4:51,606,462...51,663,136 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00719 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO SMPDB SMP:00719 NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193 		JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00719 NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00719 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00719 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00719 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353 		JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00719 NCBI chr10:62,769,874...62,783,484
Ensembl chr10:62,769,900...62,782,370 		JBrowse link
G Slc25a2 solute carrier family 25 member 2 ISO SMPDB SMP:00719 NCBI chr18:29,452,943...29,456,324
Ensembl chr18:29,453,582...29,460,383 		JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00719 NCBI chr16:51,417,478...51,470,784
Ensembl chr16:51,417,493...51,470,784 		JBrowse link
2-hydroxyglutaric aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00136 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00136 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO SMPDB SMP:00136 NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00136 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00136 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00136 NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00136 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00136 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO SMPDB SMP:00136 NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535 		JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00136 NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471 		JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00136 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00136 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Glul glutamate-ammonia ligase ISO SMPDB SMP:00136 NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108 		JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00136 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875 		JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00136 NCBI chr15:18,596,180...18,608,854
Ensembl chr15:18,596,442...18,608,739 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00136 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00136 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00136 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00136 NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198 		JBrowse link
G Nadsyn1 NAD synthetase 1 ISO SMPDB SMP:00136 NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869 		JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00136 NCBI chr 4:116,281,179...116,293,870
Ensembl chr 4:116,281,328...116,313,137 		JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00136 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00136 NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739 		JBrowse link
21-alpha-hydroxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00373 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326 		JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00373 NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO SMPDB SMP:00373 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO SMPDB SMP:00373 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004 		JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO SMPDB SMP:00373 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO SMPDB SMP:00373 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00373 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00373 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899 		JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO SMPDB SMP:00373 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999 		JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00373 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852 		JBrowse link
3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00138 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00138 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00138 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00138 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00138 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00138 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00138 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00138 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00138 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00138 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00138 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00138 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00138 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00138 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00138 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00138 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00138 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00138 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00138 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00138 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00138 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00138 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00138 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00138 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00138 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00138 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00138 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00138 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00138 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		JBrowse link
3-hydroxyacyl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00568 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00568 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00568 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00568 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acss3 acyl-CoA synthetase short-chain family member 3 ISO SMPDB SMP:00568 NCBI chr 7:42,241,261...42,450,209
Ensembl chr 7:42,242,652...42,450,230 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00568 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00568 NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00568 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
3-hydroxyisobutyric aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00521 SMP:00522 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00521 SMP:00522 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00521 SMP:00522 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00521 SMP:00522 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00521 SMP:00522 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00521 SMP:00522 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00521 SMP:00522 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		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 chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00237 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00237 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00237 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00237 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00237 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00237 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00237 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00237 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00237 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00237 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00237 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00237 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00237 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00237 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00237 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00237 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00237 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00237 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00237 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00237 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00237 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00237 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00237 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00237 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00237 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00237 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00237 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00237 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00237 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		JBrowse link
3-methylglutaconic aciduria type 1 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00139 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00139 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00139 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00139 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00139 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00139 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00139 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00139 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00139 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00139 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00139 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00139 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00139 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00139 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00139 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00139 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00139 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00139 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00139 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00139 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00139 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00139 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00139 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00139 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00139 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00139 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00139 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00139 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00139 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00139 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		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 chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00140 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00140 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00140 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00140 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00140 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00140 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00140 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00140 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00140 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00140 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00140 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00140 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00140 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00140 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00140 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00140 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00140 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00140 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00140 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00140 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00140 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00140 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00140 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00140 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00140 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00140 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00140 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00140 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00140 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		JBrowse link
acute intermittent porphyria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO SMPDB SMP:00344 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474 		JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00344 NCBI chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917 		JBrowse link
G Blvra biliverdin reductase A ISO SMPDB SMP:00344 NCBI chr 3:114,340,778...114,366,048
Ensembl chr 3:114,340,838...114,366,033 		JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO SMPDB SMP:00344 NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667 		JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO SMPDB SMP:00344 NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261 		JBrowse link
G Cpox coproporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746 		JBrowse link
G Fech ferrochelatase ISO SMPDB SMP:00344 NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348 		JBrowse link
G Ftmt ferritin mitochondrial ISO SMPDB SMP:00344 NCBI chr18:45,758,874...45,760,123
Ensembl chr18:45,758,874...45,760,123 		JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00344 NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO SMPDB SMP:00344 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957 		JBrowse link
G Hmox1 heme oxygenase 1 ISO SMPDB SMP:00344 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Ppox protoporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805 		JBrowse link
G Urod uroporphyrinogen decarboxylase ISO SMPDB SMP:00344 NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808 		JBrowse link
G Uros uroporphyrinogen III synthase ISO SMPDB SMP:00344 NCBI chr 1:188,490,832...188,513,659
Ensembl chr 1:188,490,323...188,512,249 		JBrowse link
adenine phoshoribosyltransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00535 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00535 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951 		JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00535 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760 		JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00535 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604 		JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00535 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00535 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00535 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431 		JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00535 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00535 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00535 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733 		JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00535 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00535 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00535 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125 		JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00535 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416 		JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00535 NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621 		JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00535 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875 		JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00535 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203 		JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00535 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916 		JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00535 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00535 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00535 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076 		JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00535 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00535 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00535 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00535 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00535 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001 		JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00535 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635 		JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00535 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563 		JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00535 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00535 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420 		JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00535 NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986 		JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00535 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144 		JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00535 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291 		JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00535 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261 		JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00535 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773 		JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00535 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629 		JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00535 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
adenosine monophosphate deaminase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00537 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00537 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951 		JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00537 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760 		JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00537 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604 		JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00537 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00537 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00537 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431 		JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00537 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00537 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00537 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733 		JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00537 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00537 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00537 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125 		JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00537 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416 		JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00537 NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621 		JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00537 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875 		JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00537 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203 		JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00537 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916 		JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00537 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00537 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00537 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076 		JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00537 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00537 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00537 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00537 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00537 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001 		JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00537 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635 		JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00537 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563 		JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00537 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00537 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420 		JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00537 NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986 		JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00537 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144 		JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00537 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291 		JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00537 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261 		JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00537 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773 		JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00537 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629 		JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00537 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
adenylosuccinate lyase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00167 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00167 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951 		JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00167 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760 		JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00167 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604 		JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00167 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00167 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00167 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431 		JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00167 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00167 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00167 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733 		JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00167 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00167 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00167 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125 		JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00167 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416 		JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00167 NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621 		JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00167 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875 		JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00167 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203 		JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00167 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916 		JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00167 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00167 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00167 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076 		JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00167 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00167 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00167 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00167 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00167 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001 		JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00167 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635 		JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00167 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563 		JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00167 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00167 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420 		JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00167 NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986 		JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00167 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144 		JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00167 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291 		JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00167 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261 		JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00167 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773 		JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00167 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629 		JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00167 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		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 chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00516 NCBI chr 7:122,263,034...122,311,642
Ensembl chr 7:122,263,032...122,311,642 		JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00516 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00516 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095 		JBrowse link
G Crat carnitine O-acetyltransferase ISO SMPDB SMP:00516 NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255 		JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00516 NCBI chr 4:25,068,270...25,133,111
Ensembl chr 4:25,080,587...25,133,109 		JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00516 NCBI chr12:1,502,606...1,532,347
Ensembl chr12:1,503,646...1,512,585 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00516 NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262 		JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00516 NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272 		JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO SMPDB SMP:00516 NCBI chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512 		JBrowse link
AGAT deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00362 SMP:00507 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Dao D-amino-acid oxidase ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:42,592,342...42,613,046
Ensembl chr12:42,592,343...42,612,741 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00362 SMP:00507 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775 		JBrowse link
G Prodh proline dehydrogenase ISO SMPDB SMP:00362 SMP:00507 NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305 		JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00362 SMP:00507 NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184 		JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00362 SMP:00507 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00362 SMP:00507 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		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 chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00168 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951 		JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00168 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760 		JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00168 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604 		JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00168 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00168 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00168 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431 		JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00168 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00168 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00168 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733 		JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00168 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00168 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00168 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125 		JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00168 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416 		JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00168 NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621 		JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00168 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875 		JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00168 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203 		JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00168 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916 		JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00168 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00168 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00168 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076 		JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00168 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00168 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00168 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00168 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00168 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001 		JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00168 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635 		JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00168 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563 		JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00168 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00168 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420 		JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00168 NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986 		JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00168 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144 		JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00168 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291 		JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00168 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261 		JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00168 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773 		JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00168 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629 		JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00168 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
alkaptonuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00169 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681 		JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO SMPDB SMP:00169 NCBI chr 4:77,812,260...77,831,846
Ensembl chr 4:77,812,260...77,831,840 		JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00169 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00169 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00169 NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836 		JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00169 NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208 		JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00169 NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00169 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00169 NCBI chr 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284 		JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00169 NCBI chr 6:10,845,235...10,864,863
Ensembl chr 6:10,845,771...10,864,877 		JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00169 NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323 		JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00169 NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766 		JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00169 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Mif macrophage migration inhibitory factor ISO SMPDB SMP:00169 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504 		JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO SMPDB SMP:00169 NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556 		JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00169 NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031 		JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00169 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
apparent mineralocorticoid excess syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00717 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326 		JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00717 NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO SMPDB SMP:00717 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO SMPDB SMP:00717 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004 		JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO SMPDB SMP:00717 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO SMPDB SMP:00717 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00717 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00717 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899 		JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO SMPDB SMP:00717 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999 		JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00717 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852 		JBrowse link
argininosuccinic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00003 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00003 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00003 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00003 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00003 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00003 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00003 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00003 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00003 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00003 NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00003 NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00003 NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00003 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
aromatic L-amino acid decarboxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00170 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00170 NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208 		JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO SMPDB SMP:00170 NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556 		JBrowse link
G Th tyrosine hydroxylase ISO SMPDB SMP:00170 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		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 chr 1:226,737,472...226,764,647
Ensembl chr 1:226,739,318...226,764,625 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00172 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00172 NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
G Cda cytidine deaminase ISO SMPDB SMP:00172 NCBI chr 5:150,556,615...150,583,231
Ensembl chr 5:150,556,615...150,583,231 		JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00172 NCBI chr 6:43,073,706...43,085,183
Ensembl chr 6:43,073,796...43,085,183 		JBrowse link
G Ctps1 CTP synthase 1 ISO SMPDB SMP:00172 NCBI chr 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180 		JBrowse link
G Dctd dCMP deaminase ISO SMPDB SMP:00172 NCBI chr16:44,066,952...44,098,654
Ensembl chr16:44,055,128...44,098,446 		JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO SMPDB SMP:00172 NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00172 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00172 NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231 		JBrowse link
G Dut deoxyuridine triphosphatase ISO SMPDB SMP:00172 NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771 		JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00172 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416 		JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00172 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00172 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00172 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00172 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00172 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
G Tk1 thymidine kinase 1 ISO SMPDB SMP:00172 NCBI chr10:103,034,755...103,046,125
Ensembl chr10:103,031,521...103,046,920 		JBrowse link
G Tymp thymidine phosphorylase ISO SMPDB SMP:00172 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
G Tyms thymidylate synthetase ISO SMPDB SMP:00172 NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536 		JBrowse link
G Uckl1 uridine-cytidine kinase 1-like 1 ISO SMPDB SMP:00172 NCBI chr 3:168,674,849...168,687,513
Ensembl chr 3:168,674,849...168,698,091 		JBrowse link
G Umps uridine monophosphate synthetase ISO SMPDB SMP:00172 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903 		JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00172 NCBI chr20:13,217,252...13,243,590
Ensembl chr20:13,217,258...13,243,590 		JBrowse link
G Upp2 uridine phosphorylase 2 ISO SMPDB SMP:00172 NCBI chr 3:43,273,048...43,317,417
Ensembl chr 3:43,273,048...43,317,417 		JBrowse link
biotinidase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btd biotinidase ISO SMPDB SMP:00174 NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945 		JBrowse link
G Hlcs holocarboxylase synthetase ISO SMPDB SMP:00174 NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222 		JBrowse link
G Spcs1 signal peptidase complex subunit 1 ISO SMPDB SMP:00174 NCBI chr16:6,190,208...6,191,776
Ensembl chr16:6,190,262...6,192,000 		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 chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00175 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760 		JBrowse link
G Adss1 adenylosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00175 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO SMPDB SMP:00175 NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423 		JBrowse link
G Aspa aspartoacylase ISO SMPDB SMP:00175 NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272 		JBrowse link
G Asrgl1 asparaginase and isoaspartyl peptidase 1 ISO SMPDB SMP:00175 NCBI chr 1:206,006,103...206,027,115
Ensembl chr 1:206,006,109...206,027,108 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00175 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Dars1 aspartyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chr13:39,857,936...39,913,055
Ensembl chr13:39,857,936...39,913,116 		JBrowse link
G Ddo D-aspartate oxidase ISO SMPDB SMP:00175 NCBI chr20:44,090,823...44,109,962
Ensembl chr20:44,090,914...44,133,095 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00175 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333 		JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00175 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562 		JBrowse link
G Nars1 asparaginyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chr18:57,989,308...58,005,584
Ensembl chr18:57,989,308...58,005,622 		JBrowse link
carbamoyl phosphate synthetase I deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00002 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00002 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00002 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
carnitine palmitoyltransferase I deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00538 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00538 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00538 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00538 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00538 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO SMPDB SMP:00538 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00538 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00538 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00538 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00538 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00538 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00538 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00538 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00538 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869 		JBrowse link
carnitine-acylcarnitine translocase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO SMPDB SMP:00517 NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00517 NCBI chr 7:122,263,034...122,311,642
Ensembl chr 7:122,263,032...122,311,642 		JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00517 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095 		JBrowse link
G Crat carnitine O-acetyltransferase ISO SMPDB SMP:00517 NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255 		JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chr 4:25,068,270...25,133,111
Ensembl chr 4:25,080,587...25,133,109 		JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chr12:1,502,606...1,532,347
Ensembl chr12:1,503,646...1,512,585 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262 		JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00517 NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272 		JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO SMPDB SMP:00517 NCBI chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512 		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 chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00493 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00493 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO SMPDB SMP:00493 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO SMPDB SMP:00493 NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00493 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00493 NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00493 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333 		JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00493 NCBI chr20:13,217,252...13,243,590
Ensembl chr20:13,217,258...13,243,590 		JBrowse link
cerebrotendinous xanthomatosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO SMPDB SMP:00315 NCBI chr15:16,660,584...16,692,160
Ensembl chr15:16,660,272...16,692,160 		JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00315 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326 		JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00315 NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372 		JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00315 NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255 		JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO SMPDB SMP:00315 NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685 		JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00315 NCBI chr 1:232,014,877...232,016,195
Ensembl chr 1:232,014,880...232,016,195 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551 		JBrowse link
G Cyp39a1 cytochrome P450, family 39, subfamily a, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 9:17,230,455...17,306,775
Ensembl chr 9:17,230,455...17,306,775 		JBrowse link
G Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 6:127,247,543...127,274,765
Ensembl chr 6:127,243,315...127,274,760 		JBrowse link
G Cyp7a1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688 		JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00315 NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698 		JBrowse link
G Cyp8b1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00315 NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO SMPDB SMP:00315 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952 		JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00315 NCBI chr 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442 		JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00315 NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633 		JBrowse link
G Scp2 sterol carrier protein 2 ISO SMPDB SMP:00315 NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287 		JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00315 NCBI chr 1:73,616,556...73,627,149
Ensembl chr 1:73,616,564...73,627,172 		JBrowse link
cholesterol ester storage disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00508 NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821 		JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00508 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
Ensembl chr 6:30,036,865...30,055,410 		JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00508 NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00508 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00508 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00508 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00508 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00508 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00508 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100 		JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00508 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017 		JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00508 NCBI chr17:61,629,592...61,637,357
Ensembl chr17:61,629,594...61,637,357 		JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00508 NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633 		JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00508 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00508 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00508 NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971 		JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00508 NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO SMPDB SMP:00508 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00508 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364 		JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00508 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273 		JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00508 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494 		JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00508 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618 		JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00508 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270 		JBrowse link
citrullinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00001 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00001 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00001 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00001 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00001 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00001 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00001 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00001 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00001 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00001 NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00001 NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00001 NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00001 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
congenital bile acid synthesis defect pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO SMPDB SMP:00314 SMP:00318 NCBI chr15:16,660,584...16,692,160
Ensembl chr15:16,660,272...16,692,160 		JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326 		JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372 		JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00314 SMP:00318 NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255 		JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO SMPDB SMP:00314 SMP:00318 NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685 		JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00314 SMP:00318 NCBI chr 1:232,014,877...232,016,195
Ensembl chr 1:232,014,880...232,016,195 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551 		JBrowse link
G Cyp39a1 cytochrome P450, family 39, subfamily a, polypeptide 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 9:17,230,455...17,306,775
Ensembl chr 9:17,230,455...17,306,775 		JBrowse link
G Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 6:127,247,543...127,274,765
Ensembl chr 6:127,243,315...127,274,760 		JBrowse link
G Cyp7a1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688 		JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698 		JBrowse link
G Cyp8b1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO SMPDB SMP:00314 SMP:00318 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952 		JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442 		JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00314 SMP:00318 NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633 		JBrowse link
G Scp2 sterol carrier protein 2 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287 		JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 1:73,616,556...73,627,149
Ensembl chr 1:73,616,564...73,627,172 		JBrowse link
congenital hemidysplasia with ichthyosiform erythroderma and limb defects pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00387 NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821 		JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00387 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
Ensembl chr 6:30,036,865...30,055,410 		JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00387 NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00387 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00387 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00387 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00387 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00387 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00387 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100 		JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00387 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017 		JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00387 NCBI chr17:61,629,592...61,637,357
Ensembl chr17:61,629,594...61,637,357 		JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00387 NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633 		JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00387 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00387 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00387 NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971 		JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00387 NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO SMPDB SMP:00387 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00387 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364 		JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00387 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273 		JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00387 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494 		JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00387 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618 		JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00387 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270 		JBrowse link
congenital sucrase-isomaltase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase ISO SMPDB SMP:00557 NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00557 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
G Gck glucokinase ISO SMPDB SMP:00557 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00557 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00557 NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00557 NCBI chr 4:175,365,054...175,406,228
Ensembl chr 4:175,365,054...175,406,228 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00557 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Mgam maltase-glucoamylase ISO SMPDB SMP:00557 NCBI chr 4:69,441,626...69,602,068
Ensembl chr 4:69,446,150...69,692,715 		JBrowse link
G Mgam2 maltase-glucoamylase 2 ISO SMPDB SMP:00557 NCBI chr 4:69,624,024...69,715,782
Ensembl chr 4:69,637,799...69,683,742 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00557 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO SMPDB SMP:00557 NCBI chr 1:154,571,410...154,620,901
Ensembl chr 1:154,571,766...154,620,902 		JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00557 NCBI chr 6:88,697,598...88,740,260
Ensembl chr 6:88,697,593...88,740,310 		JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00557 NCBI chr 2:157,505,893...157,586,228
Ensembl chr 2:157,506,342...157,585,260 		JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00557 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00557 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830 		JBrowse link
cystathioninuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO SMPDB SMP:00514 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00514 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
cystinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO SMPDB SMP:00723 NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690 		JBrowse link
G Aqp2 aquaporin 2 ISO SMPDB SMP:00723 NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO SMPDB SMP:00723 NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720 		JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00723 NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837 		JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO SMPDB SMP:00723 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00723 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
G Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 ISO SMPDB SMP:00723 NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687 		JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00723 NCBI chr13:76,786,580...76,807,096
Ensembl chr13:76,786,578...76,807,459 		JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00723 NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933 		JBrowse link
G Atp1b3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00723 NCBI chr 8:96,910,265...96,941,592
Ensembl chr 8:96,910,309...96,941,598
Ensembl chr 8:96,910,309...96,941,598 		JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00723 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020 		JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO SMPDB SMP:00723 NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148 		JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO SMPDB SMP:00723 NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO SMPDB SMP:00723 NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00723 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00723 NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00723 NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO SMPDB SMP:00723 NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO SMPDB SMP:00723 NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091 		JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO SMPDB SMP:00723 NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258 		JBrowse link
G Slc14a2 solute carrier family 14 member 2 ISO SMPDB SMP:00723 NCBI chr18:71,612,460...72,039,462
Ensembl chr18:71,612,460...71,792,968 		JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO SMPDB SMP:00723 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402 		JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO SMPDB SMP:00723 NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268 		JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO SMPDB SMP:00723 NCBI chr 1:205,522,579...205,531,179
Ensembl chr 1:205,522,729...205,531,173 		JBrowse link
G Slc38a4 solute carrier family 38, member 4 ISO SMPDB SMP:00723 NCBI chr 7:128,142,866...128,203,000
Ensembl chr 7:128,144,807...128,202,995 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO SMPDB SMP:00723 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907 		JBrowse link
G Slc3a2 solute carrier family 3 member 2 ISO SMPDB SMP:00723 NCBI chr 1:205,604,468...205,618,931
Ensembl chr 1:205,604,468...205,618,931 		JBrowse link
G Slc6a20a solute carrier family 6 member 20a ISO SMPDB SMP:00723 NCBI chr 8:123,282,325...123,322,609
Ensembl chr 8:123,281,472...123,322,573 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO SMPDB SMP:00723 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823 		JBrowse link
G Slc7a6 solute carrier family 7 member 6 ISO SMPDB SMP:00723 NCBI chr19:34,073,472...34,100,268
Ensembl chr19:34,074,286...34,100,268 		JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO SMPDB SMP:00723 NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648 		JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO SMPDB SMP:00723 NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717 		JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO SMPDB SMP:00723 NCBI chr 1:88,109,517...88,132,653
Ensembl chr 1:88,110,644...88,132,641 		JBrowse link
D-glycericacidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO SMPDB SMP:00529 NCBI chr20:4,135,955...4,144,880
Ensembl chr20:4,135,957...4,145,278 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00529 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00529 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681 		JBrowse link
G Dgka diacylglycerol kinase, alpha ISO SMPDB SMP:00529 NCBI chr 7:1,148,734...1,175,324
Ensembl chr 7:1,148,735...1,175,110 		JBrowse link
G Gk glycerol kinase ISO SMPDB SMP:00529 NCBI chr  X:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631 		JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00529 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397 		JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00529 NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639 		JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00529 NCBI chr 7:130,842,526...130,851,530
Ensembl chr 7:130,844,138...130,851,529 		JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00529 NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901 		JBrowse link
G Lipc lipase C, hepatic type ISO SMPDB SMP:00529 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00529 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00529 NCBI chr 2:44,439,002...44,500,430
Ensembl chr 2:44,438,994...44,501,268 		JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00529 NCBI chr 7:10,175,918...10,184,032
Ensembl chr 7:10,175,948...10,184,071 		JBrowse link
desmosterolosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00386 NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821 		JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00386 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
Ensembl chr 6:30,036,865...30,055,410 		JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00386 NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00386 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00386 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00386 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00386 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00386 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00386 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100 		JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00386 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017 		JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00386 NCBI chr17:61,629,592...61,637,357
Ensembl chr17:61,629,594...61,637,357 		JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00386 NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633 		JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00386 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00386 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00386 NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971 		JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00386 NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO SMPDB SMP:00386 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00386 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364 		JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00386 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273 		JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00386 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494 		JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00386 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618 		JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00386 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270 		JBrowse link
dihydropyrimidinase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak3 adenylate kinase 3 ISO SMPDB SMP:00178 NCBI chr 1:226,737,472...226,764,647
Ensembl chr 1:226,739,318...226,764,625 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00178 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00178 NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
G Cda cytidine deaminase ISO SMPDB SMP:00178 NCBI chr 5:150,556,615...150,583,231
Ensembl chr 5:150,556,615...150,583,231 		JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00178 NCBI chr 6:43,073,706...43,085,183
Ensembl chr 6:43,073,796...43,085,183 		JBrowse link
G Ctps1 CTP synthase 1 ISO SMPDB SMP:00178 NCBI chr 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180 		JBrowse link
G Dctd dCMP deaminase ISO SMPDB SMP:00178 NCBI chr16:44,066,952...44,098,654
Ensembl chr16:44,055,128...44,098,446 		JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO SMPDB SMP:00178 NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00178 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00178 NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231 		JBrowse link
G Dut deoxyuridine triphosphatase ISO SMPDB SMP:00178 NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771 		JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00178 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416 		JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00178 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00178 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00178 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00178 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00178 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
G Tk1 thymidine kinase 1 ISO SMPDB SMP:00178 NCBI chr10:103,034,755...103,046,125
Ensembl chr10:103,031,521...103,046,920 		JBrowse link
G Tymp thymidine phosphorylase ISO SMPDB SMP:00178 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
G Tyms thymidylate synthetase ISO SMPDB SMP:00178 NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536 		JBrowse link
G Uckl1 uridine-cytidine kinase 1-like 1 ISO SMPDB SMP:00178 NCBI chr 3:168,674,849...168,687,513
Ensembl chr 3:168,674,849...168,698,091 		JBrowse link
G Umps uridine monophosphate synthetase ISO SMPDB SMP:00178 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903 		JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00178 NCBI chr20:13,217,252...13,243,590
Ensembl chr20:13,217,258...13,243,590 		JBrowse link
G Upp2 uridine phosphorylase 2 ISO SMPDB SMP:00178 NCBI chr 3:43,273,048...43,317,417
Ensembl chr 3:43,273,048...43,317,417 		JBrowse link
dihydropyrimidine dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate aminotransferase ISO SMPDB SMP:00179 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00179 NCBI chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00179 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00179 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126 		JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00179 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00179 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00179 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00179 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00179 NCBI chr 2:24,912,600...24,987,533
Ensembl chr 2:24,912,578...24,987,528 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00179 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00179 NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00179 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Gcat glycine C-acetyltransferase ISO SMPDB SMP:00179 NCBI chr 7:110,595,126...110,601,474
Ensembl chr 7:110,595,091...110,601,473 		JBrowse link
G Gldc glycine decarboxylase ISO SMPDB SMP:00179 NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097 		JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00179 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397 		JBrowse link
G Gnmt glycine N-methyltransferase ISO SMPDB SMP:00179 NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434 		JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00179 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO SMPDB SMP:00179 NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00179 NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682 		JBrowse link
G Psph phosphoserine phosphatase ISO SMPDB SMP:00179 NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074 		JBrowse link
G Sardh sarcosine dehydrogenase ISO SMPDB SMP:00179 NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874 		JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00179 NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277 		JBrowse link
G Sds serine dehydratase ISO SMPDB SMP:00179 NCBI chr12:36,083,226...36,090,540
Ensembl chr12:36,083,229...36,088,203 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00179 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00179 NCBI chr 7:63,358,961...63,364,293
Ensembl chr 7:63,358,961...63,364,236 		JBrowse link
G Srr serine racemase ISO SMPDB SMP:00179 NCBI chr10:59,769,563...59,786,688
Ensembl chr10:59,769,571...59,787,011 		JBrowse link
dimethylglycine dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate aminotransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00242 SMP:00484 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126 		JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00242 SMP:00484 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 2:24,912,600...24,987,533
Ensembl chr 2:24,912,578...24,987,528 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Gcat glycine C-acetyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 7:110,595,126...110,601,474
Ensembl chr 7:110,595,091...110,601,473 		JBrowse link
G Gldc glycine decarboxylase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097 		JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397 		JBrowse link
G Gnmt glycine N-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434 		JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00242 SMP:00484 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682 		JBrowse link
G Psph phosphoserine phosphatase ISO SMPDB SMP:00242 SMP:00484 NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074 		JBrowse link
G Sardh sarcosine dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874 		JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277 		JBrowse link
G Sds serine dehydratase ISO SMPDB SMP:00242 SMP:00484 NCBI chr12:36,083,226...36,090,540
Ensembl chr12:36,083,229...36,088,203 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 7:63,358,961...63,364,293
Ensembl chr 7:63,358,961...63,364,236 		JBrowse link
G Srr serine racemase ISO SMPDB SMP:00242 SMP:00484 NCBI chr10:59,769,563...59,786,688
Ensembl chr10:59,769,571...59,787,011 		JBrowse link
erythropoietic porphyria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO SMPDB SMP:00345 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474 		JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00345 NCBI chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917 		JBrowse link
G Blvra biliverdin reductase A ISO SMPDB SMP:00345 NCBI chr 3:114,340,778...114,366,048
Ensembl chr 3:114,340,838...114,366,033 		JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO SMPDB SMP:00345 NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667 		JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO SMPDB SMP:00345 NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261 		JBrowse link
G Cpox coproporphyrinogen oxidase ISO SMPDB SMP:00345 NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746 		JBrowse link
G Fech ferrochelatase ISO SMPDB SMP:00345 NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348 		JBrowse link
G Ftmt ferritin mitochondrial ISO SMPDB SMP:00345 NCBI chr18:45,758,874...45,760,123
Ensembl chr18:45,758,874...45,760,123 		JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00345 NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO SMPDB SMP:00345 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957 		JBrowse link
G Hmox1 heme oxygenase 1 ISO SMPDB SMP:00345 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Ppox protoporphyrinogen oxidase ISO SMPDB SMP:00345 NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805 		JBrowse link
G Urod uroporphyrinogen decarboxylase ISO SMPDB SMP:00345 NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808 		JBrowse link
G Uros uroporphyrinogen III synthase ISO SMPDB SMP:00345 NCBI chr 1:188,490,832...188,513,659
Ensembl chr 1:188,490,323...188,512,249 		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 chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00181 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00181 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00181 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00181 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO SMPDB SMP:00181 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00181 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00181 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00181 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00181 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00181 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00181 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00181 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00181 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869 		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 chr 9:1,794,340...1,824,432
Ensembl chr 9:1,793,139...1,824,434 		JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00525 NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:152,504,186...152,606,591 		JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00525 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783 		JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00525 NCBI chr18:11,958,382...12,015,247
Ensembl chr18:11,958,390...12,015,247 		JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00525 NCBI chr 7:117,225,855...117,269,436
Ensembl chr 7:117,225,855...117,268,759 		JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00525 NCBI chr 6:127,596,063...127,613,293
Ensembl chr 6:127,596,071...127,613,293 		JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00525 NCBI chr10:104,242,169...104,247,185
Ensembl chr10:104,242,223...104,246,589 		JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00525 NCBI chr14:78,868,049...78,886,402
Ensembl chr14:78,870,793...78,886,388 		JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00525 NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00525 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00525 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00525 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00525 NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108 		JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00525 NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813 		JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00525 NCBI chr 2:44,439,002...44,500,430
Ensembl chr 2:44,438,994...44,501,268 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00525 NCBI chr 1:229,996,673...230,259,591
Ensembl chr 1:229,998,119...230,259,603 		JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00525 NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084 		JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00525 NCBI chr 9:79,762,658...79,884,665
Ensembl chr 9:79,763,284...79,880,457 		JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00525 NCBI chr 1:96,180,872...96,188,592
Ensembl chr 1:96,180,887...96,188,391 		JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00525 NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295 		JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00525 NCBI chr 6:106,948,682...107,031,532
Ensembl chr 6:106,950,949...107,031,542 		JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00525 NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393 		JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00525 NCBI chr 2:214,264,483...214,332,769
Ensembl chr 2:214,264,483...214,332,660 		JBrowse link
familial hypercholanemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO SMPDB SMP:00317 NCBI chr15:16,660,584...16,692,160
Ensembl chr15:16,660,272...16,692,160 		JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00317 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326 		JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00317 NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372 		JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00317 NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255 		JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO SMPDB SMP:00317 NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685 		JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00317 NCBI chr 1:232,014,877...232,016,195
Ensembl chr 1:232,014,880...232,016,195 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO SMPDB SMP:00317 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551 		JBrowse link
G Cyp39a1 cytochrome P450, family 39, subfamily a, polypeptide 1 ISO SMPDB SMP:00317 NCBI chr 9:17,230,455...17,306,775
Ensembl chr 9:17,230,455...17,306,775 		JBrowse link
G Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 ISO SMPDB SMP:00317 NCBI chr 6:127,247,543...127,274,765
Ensembl chr 6:127,243,315...127,274,760 		JBrowse link
G Cyp7a1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00317 NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688 		JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00317 NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698 		JBrowse link
G Cyp8b1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00317 NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO SMPDB SMP:00317 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952 		JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00317 NCBI chr 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442 		JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00317 NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633 		JBrowse link
G Scp2 sterol carrier protein 2 ISO SMPDB SMP:00317 NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287 		JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00317 NCBI chr 1:73,616,556...73,627,149
Ensembl chr 1:73,616,564...73,627,172 		JBrowse link
familial lipoprotein lipase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO SMPDB SMP:00530 NCBI chr20:4,135,955...4,144,880
Ensembl chr20:4,135,957...4,145,278 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00530 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00530 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681 		JBrowse link
G Dgka diacylglycerol kinase, alpha ISO SMPDB SMP:00530 NCBI chr 7:1,148,734...1,175,324
Ensembl chr 7:1,148,735...1,175,110 		JBrowse link
G Gk glycerol kinase ISO SMPDB SMP:00530 NCBI chr  X:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631 		JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00530 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397 		JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00530 NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639 		JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00530 NCBI chr 7:130,842,526...130,851,530
Ensembl chr 7:130,844,138...130,851,529 		JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00530 NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901 		JBrowse link
G Lipc lipase C, hepatic type ISO SMPDB SMP:00530 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00530 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00530 NCBI chr 2:44,439,002...44,500,430
Ensembl chr 2:44,438,994...44,501,268 		JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00530 NCBI chr 7:10,175,918...10,184,032
Ensembl chr 7:10,175,948...10,184,071 		JBrowse link
Fanconi syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00572 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00572 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00572 NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581 		JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00572 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
Ensembl chr 3:160,719,951...160,731,336 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00572 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00572 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00572 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00572 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00572 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00572 NCBI chr 1:232,324,718...232,395,445
Ensembl chr 1:232,328,430...232,396,829 		JBrowse link
G Pfkm phosphofructokinase, muscle ISO SMPDB SMP:00572 NCBI chr 7:129,221,679...129,259,192
Ensembl chr 7:129,221,653...129,259,192 		JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00572 NCBI chr 1:240,723,832...240,731,443
Ensembl chr 1:240,723,920...240,738,452 		JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00572 NCBI chr14:80,681,796...80,683,907
Ensembl chr14:80,681,776...80,683,940 		JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00572 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00572 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00572 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
french type sialuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amdhd2 amidohydrolase domain containing 2 ISO SMPDB SMP:00216 SMP:00217 NCBI chr10:13,187,579...13,196,148
Ensembl chr10:13,187,578...13,196,095 		JBrowse link
G Chit1 chitinase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr13:45,565,841...45,613,593
Ensembl chr13:45,593,845...45,613,592 		JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 4:175,718,808...175,737,128
Ensembl chr 4:175,718,808...175,737,125 		JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr18:30,165,435...30,177,462
Ensembl chr18:30,165,427...30,177,486 		JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr15:18,596,180...18,608,854
Ensembl chr15:18,596,442...18,608,739 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00216 SMP:00217 NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013 		JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 4:116,281,179...116,293,870
Ensembl chr 4:116,281,328...116,313,137 		JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 3:139,826,549...139,841,655
Ensembl chr 3:139,826,549...139,841,648 		JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950 		JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00216 SMP:00217 NCBI chr13:65,655,099...65,697,464
Ensembl chr13:65,655,118...65,697,372 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00216 SMP:00217 NCBI chr 8:87,518,317...87,536,021
Ensembl chr 8:87,517,701...87,536,022 		JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00216 SMP:00217 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO SMPDB SMP:00216 SMP:00217 NCBI chr 8:79,394,416...79,429,387 JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr13:82,342,946...82,377,558
Ensembl chr13:82,342,946...82,377,469
Ensembl chr 6:82,342,946...82,377,469 		JBrowse link
fructose-1,6-bisphosphatase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00562 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00562 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00562 NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581 		JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00562 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
Ensembl chr 3:160,719,951...160,731,336 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00562 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00562 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00562 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00562 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00562 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00562 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00562 NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00562 NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00562 NCBI chr 1:232,324,718...232,395,445
Ensembl chr 1:232,328,430...232,396,829 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00562 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00562 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00562 NCBI chr 1:240,723,832...240,731,443
Ensembl chr 1:240,723,920...240,738,452 		JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00562 NCBI chr14:80,681,796...80,683,907
Ensembl chr14:80,681,776...80,683,940 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00562 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00562 NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00562 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00562 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00562 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
fructosuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00561 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00561 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00561 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Aldob aldolase, fructose-bisphosphate B ISO SMPDB SMP:00561 NCBI chr 5:63,889,045...63,902,086
Ensembl chr 5:63,889,046...63,902,116 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00561 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G Fcsk fucose kinase ISO SMPDB SMP:00561 NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418 		JBrowse link
G Fpgt fucose-1-phosphate guanylyltransferase ISO SMPDB SMP:00561 NCBI chr 2:244,099,031...244,119,967
Ensembl chr 2:244,099,076...244,119,899 		JBrowse link
G Gfus GDP-L-fucose synthase ISO SMPDB SMP:00561 NCBI chr 7:107,612,087...107,617,005
Ensembl chr 7:107,612,094...107,616,948 		JBrowse link
G Gmds GDP-mannose 4, 6-dehydratase ISO SMPDB SMP:00561 NCBI chr17:32,095,315...32,621,975
Ensembl chr17:32,095,386...32,621,961 		JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO SMPDB SMP:00561 NCBI chr 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286 		JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00561 NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Khk ketohexokinase ISO SMPDB SMP:00561 NCBI chr 6:25,445,298...25,455,834
Ensembl chr 6:25,445,300...25,455,717 		JBrowse link
G Mpi mannose phosphate isomerase ISO SMPDB SMP:00561 NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150 		JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO SMPDB SMP:00561 NCBI chr  X:19,508,522...19,562,165
Ensembl chr  X:19,508,546...19,562,182 		JBrowse link
G Pfkl phosphofructokinase, liver type ISO SMPDB SMP:00561 NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO SMPDB SMP:00561 NCBI chr 3:8,392,926...8,394,325 JBrowse link
G Pmm1 phosphomannomutase 1 ISO SMPDB SMP:00561 NCBI chr 7:113,466,632...113,477,004
Ensembl chr 7:113,466,632...113,477,022 		JBrowse link
G Sord sorbitol dehydrogenase ISO SMPDB SMP:00561 NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00561 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		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 chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261 		JBrowse link
G Cs citrate synthase ISO SMPDB SMP:00547 NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00547 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
Ensembl chr 1:50,978,051...51,004,479 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00547 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00547 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296 		JBrowse link
G Fh fumarate hydratase ISO SMPDB SMP:00547 NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO SMPDB SMP:00547 NCBI chr 8:54,971,694...54,991,085
Ensembl chr 8:54,971,740...54,991,084 		JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO SMPDB SMP:00547 NCBI chr 3:117,481,845...117,486,909
Ensembl chr 3:117,481,845...117,486,982 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO SMPDB SMP:00547 NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00547 NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00547 NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
G Ogdh oxoglutarate dehydrogenase ISO SMPDB SMP:00547 NCBI chr14:81,150,021...81,217,479
Ensembl chr14:81,150,091...81,217,479 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00547 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00547 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00547 NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO SMPDB SMP:00547 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO SMPDB SMP:00547 NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO SMPDB SMP:00547 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO SMPDB SMP:00547 NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238 		JBrowse link
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO SMPDB SMP:00547 NCBI chr 4:105,308,236...105,337,595
Ensembl chr 4:105,308,039...105,337,600 		JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO SMPDB SMP:00547 NCBI chr 4:128,067,031...128,337,146
Ensembl chr 4:128,067,033...128,337,170 		JBrowse link
GABA aminotransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00351 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00351 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00351 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO SMPDB SMP:00351 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO SMPDB SMP:00351 NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00351 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00351 NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00351 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333 		JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00351 NCBI chr20:13,217,252...13,243,590
Ensembl chr20:13,217,258...13,243,590 		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 chr 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388 		JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00495 NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00495 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gck glucokinase ISO SMPDB SMP:00495 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00495 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00495 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00495 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830 		JBrowse link
G Uxs1 UDP-glucuronate decarboxylase 1 ISO SMPDB SMP:00495 NCBI chr 9:653,740...731,121
Ensembl chr 9:653,659...756,334 		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 B1 ISO SMPDB SMP:00182 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO SMPDB SMP:00182 NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00182 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Gaa alpha glucosidase ISO SMPDB SMP:00182 NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
G Gale UDP-galactose-4-epimerase ISO SMPDB SMP:00182 NCBI chr 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388 		JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00182 NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00182 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gck glucokinase ISO SMPDB SMP:00182 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00182 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00182 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00182 NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Lct lactase ISO SMPDB SMP:00182 NCBI chr13:39,781,929...39,824,456
Ensembl chr13:39,781,929...39,824,456 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00182 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00182 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830 		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 chr 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388 		JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00496 NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00496 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gck glucokinase ISO SMPDB SMP:00496 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00496 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00496 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00496 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830 		JBrowse link
G Uxs1 UDP-glucuronate decarboxylase 1 ISO SMPDB SMP:00496 NCBI chr 9:653,740...731,121
Ensembl chr 9:653,659...756,334 		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 chr 9:1,794,340...1,824,432
Ensembl chr 9:1,793,139...1,824,434 		JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00349 NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:152,504,186...152,606,591 		JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00349 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783 		JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00349 NCBI chr18:11,958,382...12,015,247
Ensembl chr18:11,958,390...12,015,247 		JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00349 NCBI chr 7:117,225,855...117,269,436
Ensembl chr 7:117,225,855...117,268,759 		JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00349 NCBI chr 6:127,596,063...127,613,293
Ensembl chr 6:127,596,071...127,613,293 		JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00349 NCBI chr10:104,242,169...104,247,185
Ensembl chr10:104,242,223...104,246,589 		JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00349 NCBI chr14:78,868,049...78,886,402
Ensembl chr14:78,870,793...78,886,388 		JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00349 NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00349 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00349 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00349 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00349 NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108 		JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00349 NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813 		JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00349 NCBI chr 2:44,439,002...44,500,430
Ensembl chr 2:44,438,994...44,501,268 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00349 NCBI chr 1:229,996,673...230,259,591
Ensembl chr 1:229,998,119...230,259,603 		JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00349 NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084 		JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00349 NCBI chr 9:79,762,658...79,884,665
Ensembl chr 9:79,763,284...79,880,457 		JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00349 NCBI chr 1:96,180,872...96,188,592
Ensembl chr 1:96,180,887...96,188,391 		JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00349 NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295 		JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00349 NCBI chr 6:106,948,682...107,031,532
Ensembl chr 6:106,950,949...107,031,542 		JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00349 NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393 		JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00349 NCBI chr 2:214,264,483...214,332,769
Ensembl chr 2:214,264,483...214,332,660 		JBrowse link
Glut1 deficiency syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galt1 beta-1,4-galactosyltransferase 1 ISO SMPDB SMP:00580 NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461 		JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00580 NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
G Cmpk1 cytidine/uridine monophosphate kinase 1 ISO SMPDB SMP:00580 NCBI chr 5:128,480,301...128,507,830
Ensembl chr 5:128,480,301...128,507,830 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00580 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00580 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Lalba lactalbumin, alpha ISO SMPDB SMP:00580 NCBI chr 7:129,625,531...129,628,034
Ensembl chr 7:129,625,535...129,628,061 		JBrowse link
G Nme2 NME/NM23 nucleoside diphosphate kinase 2 ISO SMPDB SMP:00580 NCBI chr10:78,898,097...78,903,514
Ensembl chr10:78,897,770...78,903,538
Ensembl chr20:78,897,770...78,903,538 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO SMPDB SMP:00580 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00580 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830 		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 chr16:29,509,392...29,544,332
Ensembl chr16:29,509,394...29,544,332 		JBrowse link
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00186 NCBI chr 4:51,606,461...51,663,136
Ensembl chr 4:51,606,462...51,663,136 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00185 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00185 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00185 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00185 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00185 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO SMPDB SMP:00185 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00185 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541 		JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO SMPDB SMP:00186 NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00185 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00185 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095 		JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00186 NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00186 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00186 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00185 SMP:00186 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00186 NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00185 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00185 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869 		JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00186 NCBI chr10:62,769,874...62,783,484
Ensembl chr10:62,769,900...62,782,370 		JBrowse link
G Slc25a2 solute carrier family 25 member 2 ISO SMPDB SMP:00186 NCBI chr18:29,452,943...29,456,324
Ensembl chr18:29,453,582...29,460,383 		JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00186 NCBI chr16:51,417,478...51,470,784
Ensembl chr16:51,417,493...51,470,784 		JBrowse link
glutathione synthase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anpep alanyl aminopeptidase, membrane ISO SMPDB SMP:00143 SMP:00337 NCBI chr 1:133,767,332...133,810,137
Ensembl chr 1:133,767,332...133,785,789 		JBrowse link
G Casp7 caspase 7 ISO SMPDB SMP:00143 SMP:00337 NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00143 SMP:00337 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO SMPDB SMP:00143 SMP:00337 NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535 		JBrowse link
G Ggct gamma-glutamyl cyclotransferase ISO SMPDB SMP:00143 SMP:00337 NCBI chr 4:84,122,921...84,129,327
Ensembl chr 4:84,123,118...84,129,277 		JBrowse link
G Ggt6 gamma-glutamyl transferase 6 ISO SMPDB SMP:00143 SMP:00337 NCBI chr10:57,051,977...57,054,900
Ensembl chr10:57,051,825...57,067,260 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO SMPDB SMP:00143 SMP:00337 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00143 SMP:00337 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00143 SMP:00337 NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198 		JBrowse link
G Gsto2 glutathione S-transferase omega 2 ISO SMPDB SMP:00143 SMP:00337 NCBI chr 1:246,731,314...246,757,592
Ensembl chr 1:246,732,089...246,753,866 		JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO SMPDB SMP:00143 SMP:00337 NCBI chr 7:108,011,472...108,051,751
Ensembl chr 7:108,011,475...108,035,297 		JBrowse link
glutathionuria disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anpep alanyl aminopeptidase, membrane ISO SMPDB SMP:00501 NCBI chr 1:133,767,332...133,810,137
Ensembl chr 1:133,767,332...133,785,789 		JBrowse link
G Casp7 caspase 7 ISO SMPDB SMP:00501 NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00501 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO SMPDB SMP:00501 NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535 		JBrowse link
G Ggct gamma-glutamyl cyclotransferase ISO SMPDB SMP:00501 NCBI chr 4:84,122,921...84,129,327
Ensembl chr 4:84,123,118...84,129,277 		JBrowse link
G Ggt6 gamma-glutamyl transferase 6 ISO SMPDB SMP:00501 NCBI chr10:57,051,977...57,054,900
Ensembl chr10:57,051,825...57,067,260 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO SMPDB SMP:00501 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00501 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00501 NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198 		JBrowse link
G Gsto2 glutathione S-transferase omega 2 ISO SMPDB SMP:00501 NCBI chr 1:246,731,314...246,757,592
Ensembl chr 1:246,732,089...246,753,866 		JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO SMPDB SMP:00501 NCBI chr 7:108,011,472...108,051,751
Ensembl chr 7:108,011,475...108,035,297 		JBrowse link
glycerol kinase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO SMPDB SMP:00187 NCBI chr20:4,135,955...4,144,880
Ensembl chr20:4,135,957...4,145,278 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00187 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00187 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681 		JBrowse link
G Dgka diacylglycerol kinase, alpha ISO SMPDB SMP:00187 NCBI chr 7:1,148,734...1,175,324
Ensembl chr 7:1,148,735...1,175,110 		JBrowse link
G Gk glycerol kinase ISO SMPDB SMP:00187 NCBI chr  X:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631 		JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00187 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397 		JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00187 NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639 		JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00187 NCBI chr 7:130,842,526...130,851,530
Ensembl chr 7:130,844,138...130,851,529 		JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00187 NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901 		JBrowse link
G Lipc lipase C, hepatic type ISO SMPDB SMP:00187 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00187 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00187 NCBI chr 2:44,439,002...44,500,430
Ensembl chr 2:44,438,994...44,501,268 		JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00187 NCBI chr 7:10,175,918...10,184,032
Ensembl chr 7:10,175,948...10,184,071 		JBrowse link
glycine N-methyltransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO SMPDB SMP:00222 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00222 NCBI chr20:43,695,783...43,711,476
Ensembl chr20:43,697,237...43,711,476 		JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00222 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00222 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00222 NCBI chr16:5,194,269...5,225,541
Ensembl chr16:5,194,269...5,225,537 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00222 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00222 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00222 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00222 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00222 NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493 		JBrowse link
G Mat2b methionine adenosyltransferase 2 non-catalytic beta subunit ISO SMPDB SMP:00222 NCBI chr10:25,106,928...25,122,982
Ensembl chr10:25,106,930...25,122,777 		JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00222 NCBI chr17:81,974,378...82,000,044
Ensembl chr17:81,974,196...82,000,043 		JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00222 NCBI chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496 		JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00222 NCBI chr 5:103,874,460...103,920,684
Ensembl chr 5:103,873,020...103,939,406 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00222 NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00222 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00222 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00222 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00222 NCBI chr 5:159,025,875...159,029,076
Ensembl chr 5:159,025,873...159,029,405 		JBrowse link
glycogen storage disease type Ia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00374 SMP:00581 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00374 SMP:00581 NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581 		JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
Ensembl chr 3:160,719,951...160,731,336 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00374 SMP:00581 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00374 SMP:00581 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00374 SMP:00581 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 1:232,324,718...232,395,445
Ensembl chr 1:232,328,430...232,396,829 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00374 SMP:00581 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 1:240,723,832...240,731,443
Ensembl chr 1:240,723,920...240,738,452 		JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chr14:80,681,796...80,683,907
Ensembl chr14:80,681,776...80,683,940 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00374 SMP:00581 NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
glycogen storage disease type Ib pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00573 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00573 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00573 NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581 		JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00573 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
Ensembl chr 3:160,719,951...160,731,336 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00573 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00573 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00573 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00573 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00573 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00573 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00573 NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00573 NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00573 NCBI chr 1:232,324,718...232,395,445
Ensembl chr 1:232,328,430...232,396,829 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00573 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00573 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00573 NCBI chr 1:240,723,832...240,731,443
Ensembl chr 1:240,723,920...240,738,452 		JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00573 NCBI chr14:80,681,796...80,683,907
Ensembl chr14:80,681,776...80,683,940 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00573 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00573 NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00573 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00573 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00573 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
glycogen storage disease type III pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase ISO SMPDB SMP:00553 NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00553 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
G Gck glucokinase ISO SMPDB SMP:00553 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00553 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00553 NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00553 NCBI chr 4:175,365,054...175,406,228
Ensembl chr 4:175,365,054...175,406,228 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00553 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Mgam maltase-glucoamylase ISO SMPDB SMP:00553 NCBI chr 4:69,441,626...69,602,068
Ensembl chr 4:69,446,150...69,692,715 		JBrowse link
G Mgam2 maltase-glucoamylase 2 ISO SMPDB SMP:00553 NCBI chr 4:69,624,024...69,715,782
Ensembl chr 4:69,637,799...69,683,742 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00553 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO SMPDB SMP:00553 NCBI chr 1:154,571,410...154,620,901
Ensembl chr 1:154,571,766...154,620,902 		JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00553 NCBI chr 6:88,697,598...88,740,260
Ensembl chr 6:88,697,593...88,740,310 		JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00553 NCBI chr 2:157,505,893...157,586,228
Ensembl chr 2:157,506,342...157,585,260 		JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00553 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00553 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830 		JBrowse link
glycogen storage disease type IV pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase ISO SMPDB SMP:00554 NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00554 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
G Gck glucokinase ISO SMPDB SMP:00554 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00554 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00554 NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00554 NCBI chr 4:175,365,054...175,406,228
Ensembl chr 4:175,365,054...175,406,228 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00554 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Mgam maltase-glucoamylase ISO SMPDB SMP:00554 NCBI chr 4:69,441,626...69,602,068
Ensembl chr 4:69,446,150...69,692,715 		JBrowse link
G Mgam2 maltase-glucoamylase 2 ISO SMPDB SMP:00554 NCBI chr 4:69,624,024...69,715,782
Ensembl chr 4:69,637,799...69,683,742 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00554 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO SMPDB SMP:00554 NCBI chr 1:154,571,410...154,620,901
Ensembl chr 1:154,571,766...154,620,902 		JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00554 NCBI chr 6:88,697,598...88,740,260
Ensembl chr 6:88,697,593...88,740,310 		JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00554 NCBI chr 2:157,505,893...157,586,228
Ensembl chr 2:157,506,342...157,585,260 		JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00554 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00554 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830 		JBrowse link
glycogen storage disease type VI pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase ISO SMPDB SMP:00555 NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00555 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
G Gck glucokinase ISO SMPDB SMP:00555 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00555 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00555 NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00555 NCBI chr 4:175,365,054...175,406,228
Ensembl chr 4:175,365,054...175,406,228 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00555 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Mgam maltase-glucoamylase ISO SMPDB SMP:00555 NCBI chr 4:69,441,626...69,602,068
Ensembl chr 4:69,446,150...69,692,715 		JBrowse link
G Mgam2 maltase-glucoamylase 2 ISO SMPDB SMP:00555 NCBI chr 4:69,624,024...69,715,782
Ensembl chr 4:69,637,799...69,683,742 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00555 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO SMPDB SMP:00555 NCBI chr 1:154,571,410...154,620,901
Ensembl chr 1:154,571,766...154,620,902 		JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00555 NCBI chr 6:88,697,598...88,740,260
Ensembl chr 6:88,697,593...88,740,310 		JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00555 NCBI chr 2:157,505,893...157,586,228
Ensembl chr 2:157,506,342...157,585,260 		JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00555 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00555 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830 		JBrowse link
glycogen storage disease type VII pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00531 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00531 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00531 NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581 		JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00531 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
Ensembl chr 3:160,719,951...160,731,336 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00531 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00531 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00531 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00531 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00531 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00531 NCBI chr 1:232,324,718...232,395,445
Ensembl chr 1:232,328,430...232,396,829 		JBrowse link
G Pfkm phosphofructokinase, muscle ISO SMPDB SMP:00531 NCBI chr 7:129,221,679...129,259,192
Ensembl chr 7:129,221,653...129,259,192 		JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00531 NCBI chr 1:240,723,832...240,731,443
Ensembl chr 1:240,723,920...240,738,452 		JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00531 NCBI chr14:80,681,796...80,683,907
Ensembl chr14:80,681,776...80,683,940 		JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00531 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00531 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00531 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
Hartnup disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO SMPDB SMP:00189 NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690 		JBrowse link
G Aqp2 aquaporin 2 ISO SMPDB SMP:00189 NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO SMPDB SMP:00189 NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720 		JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00189 NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837 		JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO SMPDB SMP:00189 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00189 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
G Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 ISO SMPDB SMP:00189 NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687 		JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00189 NCBI chr13:76,786,580...76,807,096
Ensembl chr13:76,786,578...76,807,459 		JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00189 NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933 		JBrowse link
G Atp1b3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00189 NCBI chr 8:96,910,265...96,941,592
Ensembl chr 8:96,910,309...96,941,598
Ensembl chr 8:96,910,309...96,941,598 		JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00189 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020 		JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO SMPDB SMP:00189 NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148 		JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO SMPDB SMP:00189 NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO SMPDB SMP:00189 NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00189 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00189 NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00189 NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO SMPDB SMP:00189 NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO SMPDB SMP:00189 NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091 		JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO SMPDB SMP:00189 NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258 		JBrowse link
G Slc14a2 solute carrier family 14 member 2 ISO SMPDB SMP:00189 NCBI chr18:71,612,460...72,039,462
Ensembl chr18:71,612,460...71,792,968 		JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO SMPDB SMP:00189 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402 		JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO SMPDB SMP:00189 NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268 		JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO SMPDB SMP:00189 NCBI chr 1:205,522,579...205,531,179
Ensembl chr 1:205,522,729...205,531,173 		JBrowse link
G Slc38a4 solute carrier family 38, member 4 ISO SMPDB SMP:00189 NCBI chr 7:128,142,866...128,203,000
Ensembl chr 7:128,144,807...128,202,995 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO SMPDB SMP:00189 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907 		JBrowse link
G Slc3a2 solute carrier family 3 member 2 ISO SMPDB SMP:00189 NCBI chr 1:205,604,468...205,618,931
Ensembl chr 1:205,604,468...205,618,931 		JBrowse link
G Slc6a20a solute carrier family 6 member 20a ISO SMPDB SMP:00189 NCBI chr 8:123,282,325...123,322,609
Ensembl chr 8:123,281,472...123,322,573 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO SMPDB SMP:00189 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823 		JBrowse link
G Slc7a6 solute carrier family 7 member 6 ISO SMPDB SMP:00189 NCBI chr19:34,073,472...34,100,268
Ensembl chr19:34,074,286...34,100,268 		JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO SMPDB SMP:00189 NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648 		JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO SMPDB SMP:00189 NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717 		JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO SMPDB SMP:00189 NCBI chr 1:88,109,517...88,132,653
Ensembl chr 1:88,110,644...88,132,641 		JBrowse link
hawkinsinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00190 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681 		JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO SMPDB SMP:00190 NCBI chr 4:77,812,260...77,831,846
Ensembl chr 4:77,812,260...77,831,840 		JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00190 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00190 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00190 NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836 		JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00190 NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208 		JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00190 NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00190 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00190 NCBI chr 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284 		JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00190 NCBI chr 6:10,845,235...10,864,863
Ensembl chr 6:10,845,771...10,864,877 		JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00190 NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323 		JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00190 NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766 		JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00190 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Mif macrophage migration inhibitory factor ISO SMPDB SMP:00190 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504 		JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO SMPDB SMP:00190 NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556 		JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00190 NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031 		JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00190 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
hereditary coproporphyria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO SMPDB SMP:00342 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474 		JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00342 NCBI chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917 		JBrowse link
G Blvra biliverdin reductase A ISO SMPDB SMP:00342 NCBI chr 3:114,340,778...114,366,048
Ensembl chr 3:114,340,838...114,366,033 		JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO SMPDB SMP:00342 NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667 		JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO SMPDB SMP:00342 NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261 		JBrowse link
G Cpox coproporphyrinogen oxidase ISO SMPDB SMP:00342 NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746 		JBrowse link
G Fech ferrochelatase ISO SMPDB SMP:00342 NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348 		JBrowse link
G Ftmt ferritin mitochondrial ISO SMPDB SMP:00342 NCBI chr18:45,758,874...45,760,123
Ensembl chr18:45,758,874...45,760,123 		JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00342 NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO SMPDB SMP:00342 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957 		JBrowse link
G Hmox1 heme oxygenase 1 ISO SMPDB SMP:00342 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Ppox protoporphyrinogen oxidase ISO SMPDB SMP:00342 NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805 		JBrowse link
G Urod uroporphyrinogen decarboxylase ISO SMPDB SMP:00342 NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808 		JBrowse link
G Uros uroporphyrinogen III synthase ISO SMPDB SMP:00342 NCBI chr 1:188,490,832...188,513,659
Ensembl chr 1:188,490,323...188,512,249 		JBrowse link
hereditary fructose intolerance 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 B1 ISO SMPDB SMP:00725 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00725 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00725 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Aldob aldolase, fructose-bisphosphate B ISO SMPDB SMP:00725 NCBI chr 5:63,889,045...63,902,086
Ensembl chr 5:63,889,046...63,902,116 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00725 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G Fcsk fucose kinase ISO SMPDB SMP:00725 NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418 		JBrowse link
G Fpgt fucose-1-phosphate guanylyltransferase ISO SMPDB SMP:00725 NCBI chr 2:244,099,031...244,119,967
Ensembl chr 2:244,099,076...244,119,899 		JBrowse link
G Gfus GDP-L-fucose synthase ISO SMPDB SMP:00725 NCBI chr 7:107,612,087...107,617,005
Ensembl chr 7:107,612,094...107,616,948 		JBrowse link
G Gmds GDP-mannose 4, 6-dehydratase ISO SMPDB SMP:00725 NCBI chr17:32,095,315...32,621,975
Ensembl chr17:32,095,386...32,621,961 		JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO SMPDB SMP:00725 NCBI chr 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286 		JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00725 NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Khk ketohexokinase ISO SMPDB SMP:00725 NCBI chr 6:25,445,298...25,455,834
Ensembl chr 6:25,445,300...25,455,717 		JBrowse link
G Mpi mannose phosphate isomerase ISO SMPDB SMP:00725 NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150 		JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO SMPDB SMP:00725 NCBI chr  X:19,508,522...19,562,165
Ensembl chr  X:19,508,546...19,562,182 		JBrowse link
G Pfkl phosphofructokinase, liver type ISO SMPDB SMP:00725 NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO SMPDB SMP:00725 NCBI chr 3:8,392,926...8,394,325 JBrowse link
G Pmm1 phosphomannomutase 1 ISO SMPDB SMP:00725 NCBI chr 7:113,466,632...113,477,004
Ensembl chr 7:113,466,632...113,477,022 		JBrowse link
G Sord sorbitol dehydrogenase ISO SMPDB SMP:00725 NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00725 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
histidinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00191 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00191 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681 		JBrowse link
G Amdhd1 amidohydrolase domain containing 1 ISO SMPDB SMP:00191 NCBI chr 7:28,043,923...28,059,156
Ensembl chr 7:28,043,716...28,059,156 		JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO SMPDB SMP:00191 NCBI chr 4:77,812,260...77,831,846
Ensembl chr 4:77,812,260...77,831,840 		JBrowse link
G Carnmt1 carnosine N-methyltransferase 1 ISO SMPDB SMP:00191 NCBI chr 1:216,093,720...216,123,360
Ensembl chr 1:216,093,695...216,121,006 		JBrowse link
G Carns1 carnosine synthase 1 ISO SMPDB SMP:00191 NCBI chr 1:201,459,061...201,470,019
Ensembl chr 1:201,459,076...201,469,845 		JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO SMPDB SMP:00191 NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765 		JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO SMPDB SMP:00191 NCBI chr18:78,039,924...78,057,030
Ensembl chr18:78,039,932...78,056,922 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO SMPDB SMP:00191 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
G Hal histidine ammonia lyase ISO SMPDB SMP:00191 NCBI chr 7:28,007,449...28,037,701
Ensembl chr 7:28,006,972...28,037,701 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO SMPDB SMP:00191 NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00191 NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747 		JBrowse link
G Hdc histidine decarboxylase ISO SMPDB SMP:00191 NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341 		JBrowse link
G Hnmt histamine N-methyltransferase ISO SMPDB SMP:00191 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00191 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Prmt3 protein arginine methyltransferase 3 ISO SMPDB SMP:00191 NCBI chr 1:99,492,712...99,581,774
Ensembl chr 1:99,492,724...99,579,435 		JBrowse link
G Uroc1 urocanate hydratase 1 ISO SMPDB SMP:00191 NCBI chr 4:122,844,933...122,876,584
Ensembl chr 4:122,844,926...122,876,591 		JBrowse link
holocarboxylase synthetase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btd biotinidase ISO SMPDB SMP:00564 NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945 		JBrowse link
G Hlcs holocarboxylase synthetase ISO SMPDB SMP:00564 NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222 		JBrowse link
G Spcs1 signal peptidase complex subunit 1 ISO SMPDB SMP:00564 NCBI chr16:6,190,208...6,191,776
Ensembl chr16:6,190,262...6,192,000 		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 chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00385 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO SMPDB SMP:00385 NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00385 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00385 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00385 NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00385 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00385 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO SMPDB SMP:00385 NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535 		JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00385 NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471 		JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00385 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00385 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Glul glutamate-ammonia ligase ISO SMPDB SMP:00385 NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108 		JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00385 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875 		JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00385 NCBI chr15:18,596,180...18,608,854
Ensembl chr15:18,596,442...18,608,739 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00385 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00385 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00385 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00385 NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198 		JBrowse link
G Nadsyn1 NAD synthetase 1 ISO SMPDB SMP:00385 NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869 		JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00385 NCBI chr 4:116,281,179...116,293,870
Ensembl chr 4:116,281,328...116,313,137 		JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00385 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00385 NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739 		JBrowse link
homocystinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO SMPDB SMP:00177 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00177 NCBI chr20:43,695,783...43,711,476
Ensembl chr20:43,697,237...43,711,476 		JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00177 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00177 SMP:00515 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00177 NCBI chr16:5,194,269...5,225,541
Ensembl chr16:5,194,269...5,225,537 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00177 SMP:00515 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00177 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00177 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00177 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00177 NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493 		JBrowse link
G Mat2b methionine adenosyltransferase 2 non-catalytic beta subunit ISO SMPDB SMP:00177 NCBI chr10:25,106,928...25,122,982
Ensembl chr10:25,106,930...25,122,777 		JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00177 NCBI chr17:81,974,378...82,000,044
Ensembl chr17:81,974,196...82,000,043 		JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00177 NCBI chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496 		JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00177 NCBI chr 5:103,874,460...103,920,684
Ensembl chr 5:103,873,020...103,939,406 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00177 NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00177 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00177 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00177 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00177 NCBI chr 5:159,025,875...159,029,076
Ensembl chr 5:159,025,873...159,029,405 		JBrowse link
hyperargininemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00357 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00357 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00357 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00357 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00357 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00357 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00357 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00357 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00357 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00357 NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00357 NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00357 NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00357 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		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 chr16:29,509,392...29,544,332
Ensembl chr16:29,509,394...29,544,332 		JBrowse link
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00527 NCBI chr 4:51,606,461...51,663,136
Ensembl chr 4:51,606,462...51,663,136 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00527 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO SMPDB SMP:00527 NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193 		JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00527 NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00527 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00527 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00527 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353 		JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00527 NCBI chr10:62,769,874...62,783,484
Ensembl chr10:62,769,900...62,782,370 		JBrowse link
G Slc25a2 solute carrier family 25 member 2 ISO SMPDB SMP:00527 NCBI chr18:29,452,943...29,456,324
Ensembl chr18:29,453,582...29,460,383 		JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00527 NCBI chr16:51,417,478...51,470,784
Ensembl chr16:51,417,493...51,470,784 		JBrowse link
hypermethioninemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO SMPDB SMP:00341 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00341 NCBI chr20:43,695,783...43,711,476
Ensembl chr20:43,697,237...43,711,476 		JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00341 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00341 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00341 NCBI chr16:5,194,269...5,225,541
Ensembl chr16:5,194,269...5,225,537 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00341 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00341 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00341 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00341 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00341 NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493 		JBrowse link
G Mat2b methionine adenosyltransferase 2 non-catalytic beta subunit ISO SMPDB SMP:00341 NCBI chr10:25,106,928...25,122,982
Ensembl chr10:25,106,930...25,122,777 		JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00341 NCBI chr17:81,974,378...82,000,044
Ensembl chr17:81,974,196...82,000,043 		JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00341 NCBI chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496 		JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00341 NCBI chr 5:103,874,460...103,920,684
Ensembl chr 5:103,873,020...103,939,406 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00341 NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00341 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00341 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00341 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00341 NCBI chr 5:159,025,875...159,029,076
Ensembl chr 5:159,025,873...159,029,405 		JBrowse link
hyperprolinemia type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00361 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00361 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00361 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00361 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00361 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00361 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Dao D-amino-acid oxidase ISO SMPDB SMP:00361 NCBI chr12:42,592,342...42,613,046
Ensembl chr12:42,592,343...42,612,741 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00361 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00361 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00361 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00361 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00361 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00361 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00361 NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00361 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00361 NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775 		JBrowse link
G Prodh proline dehydrogenase ISO SMPDB SMP:00361 NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305 		JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00361 NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184 		JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00361 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00361 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
hyperprolinemia type II pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00360 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00360 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00360 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00360 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00360 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00360 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Dao D-amino-acid oxidase ISO SMPDB SMP:00360 NCBI chr12:42,592,342...42,613,046
Ensembl chr12:42,592,343...42,612,741 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00360 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00360 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00360 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00360 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00360 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00360 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00360 NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00360 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00360 NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775 		JBrowse link
G Prodh proline dehydrogenase ISO SMPDB SMP:00360 NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305 		JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00360 NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184 		JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00360 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00360 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
hypophosphatasia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO SMPDB SMP:00503 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00503 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Pdxk pyridoxal kinase ISO SMPDB SMP:00503 NCBI chr20:10,210,276...10,232,314
Ensembl chr20:10,210,289...10,232,110 		JBrowse link
G Pdxp pyridoxal phosphatase ISO SMPDB SMP:00503 NCBI chr 7:110,472,515...110,477,963
Ensembl chr 7:110,472,515...110,477,963 		JBrowse link
G Pnpo pyridoxamine 5'-phosphate oxidase ISO SMPDB SMP:00503 NCBI chr10:81,924,584...81,930,844
Ensembl chr10:81,924,569...81,930,871 		JBrowse link
isobutyryl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00523 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00523 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00523 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00523 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00523 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00523 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00523 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00523 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00523 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00523 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00523 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00523 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00523 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00523 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00523 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00523 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00523 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00523 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00523 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00523 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00523 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00523 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00523 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00523 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00523 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00523 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00523 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00523 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00523 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00523 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		JBrowse link
isovaleric acidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00238 SMP:00524 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00238 SMP:00524 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00238 SMP:00524 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00238 SMP:00524 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00238 SMP:00524 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00238 SMP:00524 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00238 SMP:00524 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		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 chr 9:1,794,340...1,824,432
Ensembl chr 9:1,793,139...1,824,434 		JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00348 NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:152,504,186...152,606,591 		JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00348 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783 		JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00348 NCBI chr18:11,958,382...12,015,247
Ensembl chr18:11,958,390...12,015,247 		JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00348 NCBI chr 7:117,225,855...117,269,436
Ensembl chr 7:117,225,855...117,268,759 		JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00348 NCBI chr 6:127,596,063...127,613,293
Ensembl chr 6:127,596,071...127,613,293 		JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00348 NCBI chr10:104,242,169...104,247,185
Ensembl chr10:104,242,223...104,246,589 		JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00348 NCBI chr14:78,868,049...78,886,402
Ensembl chr14:78,870,793...78,886,388 		JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00348 NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00348 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00348 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00348 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00348 NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108 		JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00348 NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813 		JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00348 NCBI chr 2:44,439,002...44,500,430
Ensembl chr 2:44,438,994...44,501,268 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00348 NCBI chr 1:229,996,673...230,259,591
Ensembl chr 1:229,998,119...230,259,603 		JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00348 NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084 		JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00348 NCBI chr 9:79,762,658...79,884,665
Ensembl chr 9:79,763,284...79,880,457 		JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00348 NCBI chr 1:96,180,872...96,188,592
Ensembl chr 1:96,180,887...96,188,391 		JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00348 NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295 		JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00348 NCBI chr 6:106,948,682...107,031,532
Ensembl chr 6:106,950,949...107,031,542 		JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00348 NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393 		JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00348 NCBI chr 2:214,264,483...214,332,769
Ensembl chr 2:214,264,483...214,332,660 		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 chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00196 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00196 NCBI chr 2:22,986,867...23,027,538
Ensembl chr 2:22,986,626...23,027,536 		JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO SMPDB SMP:00196 NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675 		JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00196 NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00196 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00196 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00196 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
Ensembl chr 1:50,978,051...51,004,479 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00196 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Glo1 glyoxalase 1 ISO SMPDB SMP:00196 NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00196 NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO SMPDB SMP:00196 NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504 		JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00196 NCBI chr19:39,583,529...39,588,397
Ensembl chr19:39,573,621...39,595,575 		JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00196 NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925 		JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00196 NCBI chr 8:87,549,043...87,660,251
Ensembl chr 8:87,549,043...87,660,304 		JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00196 NCBI chr18:67,350,833...67,400,987
Ensembl chr18:67,355,795...67,400,987 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00196 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00196 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00196 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00196 NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500 		JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00196 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		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 chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00364 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951 		JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00364 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760 		JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00364 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604 		JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00364 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00364 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00364 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431 		JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00364 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00364 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00364 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733 		JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00364 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00364 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00364 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125 		JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00364 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416 		JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00364 NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621 		JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00364 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875 		JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00364 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203 		JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00364 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916 		JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00364 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00364 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00364 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076 		JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00364 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00364 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00364 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00364 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00364 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001 		JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00364 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635 		JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00364 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563 		JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00364 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00364 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420 		JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00364 NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986 		JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00364 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144 		JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00364 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291 		JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00364 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261 		JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00364 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773 		JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00364 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629 		JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00364 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
leukotriene C4 synthase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c3 aldo-keto reductase family 1, member C3 ISO SMPDB SMP:00353 NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873 		JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO SMPDB SMP:00353 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542 		JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO SMPDB SMP:00353 NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938 		JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO SMPDB SMP:00353 NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874 		JBrowse link
G Alox15b arachidonate 15-lipoxygenase, type B ISO SMPDB SMP:00353 NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO SMPDB SMP:00353 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743 		JBrowse link
G Cbr1 carbonyl reductase 1 ISO SMPDB SMP:00353 NCBI chr11:32,860,571...32,862,981
Ensembl chr11:32,908,950...32,911,393
Ensembl chr11:32,908,950...32,911,393
Ensembl chr11:32,908,950...32,911,393 		JBrowse link
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 ISO SMPDB SMP:00353 NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143 		JBrowse link
G Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 ISO SMPDB SMP:00353
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO SMPDB SMP:00353 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023 		JBrowse link
G Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 ISO SMPDB SMP:00353 NCBI chr 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794 		JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO SMPDB SMP:00353 NCBI chr 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882 		JBrowse link
G Cyp4f18 cytochrome P450, family 4, subfamily f, polypeptide 18 ISO SMPDB SMP:00353 NCBI chr16:17,763,543...17,804,944
Ensembl chr16:17,707,317...17,804,940 		JBrowse link
G Cyp4f6 cytochrome P450, family 4, subfamily f, polypeptide 6 ISO SMPDB SMP:00353 NCBI chr 7:12,030,276...12,058,020
Ensembl chr 7:12,030,301...12,057,782 		JBrowse link
G Ephx2 epoxide hydrolase 2 ISO SMPDB SMP:00353 NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615 		JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO SMPDB SMP:00353 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO SMPDB SMP:00353 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Lta4h leukotriene A4 hydrolase ISO SMPDB SMP:00353 NCBI chr 7:27,969,796...28,001,600
Ensembl chr 7:27,969,789...28,001,600 		JBrowse link
G Ltc4s leukotriene C4 synthase ISO SMPDB SMP:00353 NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651 		JBrowse link
G Pla2g4b phospholipase A2 group IVB ISO SMPDB SMP:00353 NCBI chr 3:107,004,238...107,013,853
Ensembl chr 3:107,005,489...107,013,853 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO SMPDB SMP:00353 NCBI chr 5:165,462,610...165,465,213 JBrowse link
G Ptgds prostaglandin D2 synthase ISO SMPDB SMP:00353 NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833 		JBrowse link
G Ptges prostaglandin E synthase ISO SMPDB SMP:00353 NCBI chr 3:14,177,892...14,189,236 JBrowse link
G Ptgis prostaglandin I2 synthase ISO SMPDB SMP:00353 NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO SMPDB SMP:00353 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO SMPDB SMP:00353 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Tbxas1 thromboxane A synthase 1 ISO SMPDB SMP:00353 NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096 		JBrowse link
lipoid congenital adrenal hyperplasia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00371 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326 		JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00371 NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO SMPDB SMP:00371 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO SMPDB SMP:00371 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004 		JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO SMPDB SMP:00371 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO SMPDB SMP:00371 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00371 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00371 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899 		JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO SMPDB SMP:00371 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999 		JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00371 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852 		JBrowse link
lysinuric protein intolerance pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690 		JBrowse link
G Aqp2 aquaporin 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO SMPDB SMP:00197 SMP:00585 NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720 		JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837 		JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
G Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687 		JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr13:76,786,580...76,807,096
Ensembl chr13:76,786,578...76,807,459 		JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933 		JBrowse link
G Atp1b3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 8:96,910,265...96,941,592
Ensembl chr 8:96,910,309...96,941,598
Ensembl chr 8:96,910,309...96,941,598 		JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020 		JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO SMPDB SMP:00197 SMP:00585 NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148 		JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00197 SMP:00585 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091 		JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258 		JBrowse link
G Slc14a2 solute carrier family 14 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr18:71,612,460...72,039,462
Ensembl chr18:71,612,460...71,792,968 		JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402 		JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268 		JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:205,522,579...205,531,179
Ensembl chr 1:205,522,729...205,531,173 		JBrowse link
G Slc38a4 solute carrier family 38, member 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 7:128,142,866...128,203,000
Ensembl chr 7:128,144,807...128,202,995 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907 		JBrowse link
G Slc3a2 solute carrier family 3 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:205,604,468...205,618,931
Ensembl chr 1:205,604,468...205,618,931 		JBrowse link
G Slc6a20a solute carrier family 6 member 20a ISO SMPDB SMP:00197 SMP:00585 NCBI chr 8:123,282,325...123,322,609
Ensembl chr 8:123,281,472...123,322,573 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO SMPDB SMP:00197 SMP:00585 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823 		JBrowse link
G Slc7a6 solute carrier family 7 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr19:34,073,472...34,100,268
Ensembl chr19:34,074,286...34,100,268 		JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO SMPDB SMP:00197 SMP:00585 NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648 		JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO SMPDB SMP:00197 SMP:00585 NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717 		JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:88,109,517...88,132,653
Ensembl chr 1:88,110,644...88,132,641 		JBrowse link
malonic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00198 SMP:00502 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO SMPDB SMP:00198 SMP:00502 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00198 SMP:00502 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00198 SMP:00502 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acss1 acyl-CoA synthetase short-chain family member 1 ISO SMPDB SMP:00198 SMP:00502 NCBI chr 3:139,450,383...139,500,325
Ensembl chr 3:139,450,383...139,500,325 		JBrowse link
G Acss3 acyl-CoA synthetase short-chain family member 3 ISO SMPDB SMP:00198 SMP:00502 NCBI chr 7:42,241,261...42,450,209
Ensembl chr 7:42,242,652...42,450,230 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00198 SMP:00502 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00198 SMP:00502 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00198 SMP:00502 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00198 SMP:00502 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00198 SMP:00502 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00198 SMP:00502 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00198 SMP:00502 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Ldhal6b lactate dehydrogenase A-like 6B ISO SMPDB SMP:00198 SMP:00502 NCBI chr 1:45,997,845...45,999,268
Ensembl chr 1:45,991,991...45,999,272 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00198 SMP:00502 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mlycd malonyl-CoA decarboxylase ISO SMPDB SMP:00198 SMP:00502 NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00198 SMP:00502 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00198 SMP:00502 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00198 SMP:00502 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		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 chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00199 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00199 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00199 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00199 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00199 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00199 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00199 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00199 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00199 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00199 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00199 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00199 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00199 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00199 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00199 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00199 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00199 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00199 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00199 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00199 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00199 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00199 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00199 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00199 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00199 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00199 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00199 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00199 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00199 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		JBrowse link
medium chain acyl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00542 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00542 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00542 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00542 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00542 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO SMPDB SMP:00542 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00542 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00542 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00542 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00542 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00542 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00542 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00542 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00542 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869 		JBrowse link
mercaptolactate-cysteine disulfiduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cars1 cysteinyl-tRNA synthetase 1 ISO SMPDB SMP:00499 NCBI chr 1:198,753,689...198,796,016
Ensembl chr 1:198,753,691...198,795,941 		JBrowse link
G Cdo1 cysteine dioxygenase type 1 ISO SMPDB SMP:00499 NCBI chr18:39,432,473...39,447,253
Ensembl chr18:39,432,474...39,447,296 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00499 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO SMPDB SMP:00499 NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00499 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO SMPDB SMP:00499 NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00499 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Mpst mercaptopyruvate sulfurtransferase ISO SMPDB SMP:00499 NCBI chr 7:109,955,581...109,963,155
Ensembl chr 7:109,955,675...109,963,141 		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 chr 9:1,794,340...1,824,432
Ensembl chr 9:1,793,139...1,824,434 		JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00347 NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:152,504,186...152,606,591 		JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00347 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783 		JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00347 NCBI chr18:11,958,382...12,015,247
Ensembl chr18:11,958,390...12,015,247 		JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00347 NCBI chr 7:117,225,855...117,269,436
Ensembl chr 7:117,225,855...117,268,759 		JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00347 NCBI chr 6:127,596,063...127,613,293
Ensembl chr 6:127,596,071...127,613,293 		JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00347 NCBI chr10:104,242,169...104,247,185
Ensembl chr10:104,242,223...104,246,589 		JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00347 NCBI chr14:78,868,049...78,886,402
Ensembl chr14:78,870,793...78,886,388 		JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00347 NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00347 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00347 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00347 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00347 NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108 		JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00347 NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813 		JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00347 NCBI chr 2:44,439,002...44,500,430
Ensembl chr 2:44,438,994...44,501,268 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00347 NCBI chr 1:229,996,673...230,259,591
Ensembl chr 1:229,998,119...230,259,603 		JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00347 NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084 		JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00347 NCBI chr 9:79,762,658...79,884,665
Ensembl chr 9:79,763,284...79,880,457 		JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00347 NCBI chr 1:96,180,872...96,188,592
Ensembl chr 1:96,180,887...96,188,391 		JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00347 NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295 		JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00347 NCBI chr 6:106,948,682...107,031,532
Ensembl chr 6:106,950,949...107,031,542 		JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00347 NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393 		JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00347 NCBI chr 2:214,264,483...214,332,769
Ensembl chr 2:214,264,483...214,332,660 		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 chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00340 NCBI chr20:43,695,783...43,711,476
Ensembl chr20:43,697,237...43,711,476 		JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00340 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00340 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00340 NCBI chr16:5,194,269...5,225,541
Ensembl chr16:5,194,269...5,225,537 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00340 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00340 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00340 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00340 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00340 NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493 		JBrowse link
G Mat2b methionine adenosyltransferase 2 non-catalytic beta subunit ISO SMPDB SMP:00340 NCBI chr10:25,106,928...25,122,982
Ensembl chr10:25,106,930...25,122,777 		JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00340 NCBI chr17:81,974,378...82,000,044
Ensembl chr17:81,974,196...82,000,043 		JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00340 NCBI chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496 		JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00340 NCBI chr 5:103,874,460...103,920,684
Ensembl chr 5:103,873,020...103,939,406 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00340 NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00340 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00340 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00340 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00340 NCBI chr 5:159,025,875...159,029,076
Ensembl chr 5:159,025,873...159,029,405 		JBrowse link
methylmalonate semialdehyde dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00384 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00384 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00384 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00384 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00384 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00384 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00384 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00384 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00384 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00384 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00384 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00384 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00384 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00384 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00384 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00384 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00384 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00384 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00384 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00384 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00384 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00384 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00384 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00384 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00384 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00384 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00384 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00384 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00384 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00384 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		JBrowse link
methylmalonic acidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00200 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00200 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00200 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00200 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00200 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00200 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00200 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00200 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00200 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00200 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00200 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00200 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00200 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00200 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00200 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00200 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00200 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00200 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00200 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00200 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00200 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00200 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00200 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00200 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00200 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00200 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00200 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00200 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00200 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00200 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		JBrowse link
methylmalonic aciduria, cobalamin-related pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00201 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO SMPDB SMP:00201 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00201 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00201 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acss1 acyl-CoA synthetase short-chain family member 1 ISO SMPDB SMP:00201 NCBI chr 3:139,450,383...139,500,325
Ensembl chr 3:139,450,383...139,500,325 		JBrowse link
G Acss3 acyl-CoA synthetase short-chain family member 3 ISO SMPDB SMP:00201 NCBI chr 7:42,241,261...42,450,209
Ensembl chr 7:42,242,652...42,450,230 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00201 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00201 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00201 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00201 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00201 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00201 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00201 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Ldhal6b lactate dehydrogenase A-like 6B ISO SMPDB SMP:00201 NCBI chr 1:45,997,845...45,999,268
Ensembl chr 1:45,991,991...45,999,272 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00201 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mlycd malonyl-CoA decarboxylase ISO SMPDB SMP:00201 NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00201 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00201 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00201 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		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 chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821 		JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00509 SMP:00510 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
Ensembl chr 6:30,036,865...30,055,410 		JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00509 SMP:00510 NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00509 SMP:00510 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00509 SMP:00510 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00509 SMP:00510 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100 		JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00509 SMP:00510 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017 		JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chr17:61,629,592...61,637,357
Ensembl chr17:61,629,594...61,637,357 		JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00509 SMP:00510 NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633 		JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00509 SMP:00510 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00509 SMP:00510 NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971 		JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00509 SMP:00510 NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO SMPDB SMP:00509 SMP:00510 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00509 SMP:00510 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364 		JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00509 SMP:00510 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273 		JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494 		JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00509 SMP:00510 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618 		JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00509 SMP:00510 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270 		JBrowse link
molybdenum cofactor deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00203 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00203 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951 		JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00203 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760 		JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00203 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604 		JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00203 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00203 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00203 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431 		JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00203 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00203 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00203 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733 		JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00203 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00203 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00203 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125 		JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00203 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416 		JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00203 NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621 		JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00203 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875 		JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00203 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203 		JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00203 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916 		JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00203 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00203 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00203 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076 		JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00203 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00203 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00203 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00203 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00203 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001 		JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00203 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635 		JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00203 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563 		JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00203 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00203 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420 		JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00203 NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986 		JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00203 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144 		JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00203 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291 		JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00203 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261 		JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00203 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773 		JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00203 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629 		JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00203 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
nonketotic hyperglycinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate aminotransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00223 SMP:00485 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126 		JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00223 SMP:00485 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:24,912,600...24,987,533
Ensembl chr 2:24,912,578...24,987,528 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Gcat glycine C-acetyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 7:110,595,126...110,601,474
Ensembl chr 7:110,595,091...110,601,473 		JBrowse link
G Gldc glycine decarboxylase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097 		JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397 		JBrowse link
G Gnmt glycine N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434 		JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00223 SMP:00485 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682 		JBrowse link
G Psph phosphoserine phosphatase ISO SMPDB SMP:00223 SMP:00485 NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074 		JBrowse link
G Sardh sarcosine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874 		JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277 		JBrowse link
G Sds serine dehydratase ISO SMPDB SMP:00223 SMP:00485 NCBI chr12:36,083,226...36,090,540
Ensembl chr12:36,083,229...36,088,203 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 7:63,358,961...63,364,293
Ensembl chr 7:63,358,961...63,364,236 		JBrowse link
G Srr serine racemase ISO SMPDB SMP:00223 SMP:00485 NCBI chr10:59,769,563...59,786,688
Ensembl chr10:59,769,571...59,787,011 		JBrowse link
ocular nonnephropathic cystinosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cars1 cysteinyl-tRNA synthetase 1 ISO SMPDB SMP:00722 NCBI chr 1:198,753,689...198,796,016
Ensembl chr 1:198,753,691...198,795,941 		JBrowse link
G Cdo1 cysteine dioxygenase type 1 ISO SMPDB SMP:00722 NCBI chr18:39,432,473...39,447,253
Ensembl chr18:39,432,474...39,447,296 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00722 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO SMPDB SMP:00722 NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00722 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO SMPDB SMP:00722 NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00722 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Mpst mercaptopyruvate sulfurtransferase ISO SMPDB SMP:00722 NCBI chr 7:109,955,581...109,963,155
Ensembl chr 7:109,955,675...109,963,141 		JBrowse link
ornithine carbamoyltransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00205 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00205 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00205 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00205 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00205 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00205 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00205 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00205 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00205 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00205 NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00205 NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00205 NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00205 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		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 chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00506 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00506 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00506 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00506 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00506 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Dao D-amino-acid oxidase ISO SMPDB SMP:00506 NCBI chr12:42,592,342...42,613,046
Ensembl chr12:42,592,343...42,612,741 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00506 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00506 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00506 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00506 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00506 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00506 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00506 NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00506 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00506 NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775 		JBrowse link
G Prodh proline dehydrogenase ISO SMPDB SMP:00506 NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305 		JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00506 NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184 		JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00506 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00506 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
orotic aciduria 1 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak3 adenylate kinase 3 ISO SMPDB SMP:00219 NCBI chr 1:226,737,472...226,764,647
Ensembl chr 1:226,739,318...226,764,625 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00219 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00219 NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
G Cda cytidine deaminase ISO SMPDB SMP:00219 NCBI chr 5:150,556,615...150,583,231
Ensembl chr 5:150,556,615...150,583,231 		JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00219 NCBI chr 6:43,073,706...43,085,183
Ensembl chr 6:43,073,796...43,085,183 		JBrowse link
G Ctps1 CTP synthase 1 ISO SMPDB SMP:00219 NCBI chr 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180 		JBrowse link
G Dctd dCMP deaminase ISO SMPDB SMP:00219 NCBI chr16:44,066,952...44,098,654
Ensembl chr16:44,055,128...44,098,446 		JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO SMPDB SMP:00219 NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00219 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00219 NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231 		JBrowse link
G Dut deoxyuridine triphosphatase ISO SMPDB SMP:00219 NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771 		JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00219 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416 		JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00219 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00219 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00219 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00219 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00219 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
G Tk1 thymidine kinase 1 ISO SMPDB SMP:00219 NCBI chr10:103,034,755...103,046,125
Ensembl chr10:103,031,521...103,046,920 		JBrowse link
G Tymp thymidine phosphorylase ISO SMPDB SMP:00219 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
G Tyms thymidylate synthetase ISO SMPDB SMP:00219 NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536 		JBrowse link
G Uckl1 uridine-cytidine kinase 1-like 1 ISO SMPDB SMP:00219 NCBI chr 3:168,674,849...168,687,513
Ensembl chr 3:168,674,849...168,698,091 		JBrowse link
G Umps uridine monophosphate synthetase ISO SMPDB SMP:00219 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903 		JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00219 NCBI chr20:13,217,252...13,243,590
Ensembl chr20:13,217,258...13,243,590 		JBrowse link
G Upp2 uridine phosphorylase 2 ISO SMPDB SMP:00219 NCBI chr 3:43,273,048...43,317,417
Ensembl chr 3:43,273,048...43,317,417 		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 chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505 		JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00206 NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980 		JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00206 NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00206 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00206 NCBI chr 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284 		JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00206 NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323 		JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00206 NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766 		JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00206 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562 		JBrowse link
G Pah phenylalanine hydroxylase ISO SMPDB SMP:00206 NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00206 NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031 		JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00206 NCBI chr 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833 		JBrowse link
phosphoenolpyruvate carboxykinase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00560 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00560 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00560 NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581 		JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00560 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
Ensembl chr 3:160,719,951...160,731,336 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00560 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00560 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00560 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00560 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00560 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00560 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00560 NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00560 NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00560 NCBI chr 1:232,324,718...232,395,445
Ensembl chr 1:232,328,430...232,396,829 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00560 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00560 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00560 NCBI chr 1:240,723,832...240,731,443
Ensembl chr 1:240,723,920...240,738,452 		JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00560 NCBI chr14:80,681,796...80,683,907
Ensembl chr14:80,681,776...80,683,940 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00560 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00560 NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00560 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00560 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00560 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
primary hyperoxaluria type 1 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO SMPDB SMP:00352 NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147 		JBrowse link
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00352 NCBI chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090 		JBrowse link
G Agxt alanine--glyoxylate aminotransferase ISO SMPDB SMP:00352 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00352 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00352 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
primary hyperoxaluria type 2 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaca acetyl-CoA carboxylase alpha ISO SMPDB SMP:00558 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00558 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00558 NCBI chr 2:22,986,867...23,027,538
Ensembl chr 2:22,986,626...23,027,536 		JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO SMPDB SMP:00558 NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675 		JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00558 NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00558 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00558 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00558 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
Ensembl chr 1:50,978,051...51,004,479 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00558 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Glo1 glyoxalase 1 ISO SMPDB SMP:00558 NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00558 NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO SMPDB SMP:00558 NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504 		JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00558 NCBI chr19:39,583,529...39,588,397
Ensembl chr19:39,573,621...39,595,575 		JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00558 NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925 		JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00558 NCBI chr 8:87,549,043...87,660,251
Ensembl chr 8:87,549,043...87,660,304 		JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00558 NCBI chr18:67,350,833...67,400,987
Ensembl chr18:67,355,795...67,400,987 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00558 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00558 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00558 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00558 NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500 		JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00558 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
prolidase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00207 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00207 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00207 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00207 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00207 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00207 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Dao D-amino-acid oxidase ISO SMPDB SMP:00207 NCBI chr12:42,592,342...42,613,046
Ensembl chr12:42,592,343...42,612,741 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00207 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00207 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00207 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00207 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00207 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00207 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00207 NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00207 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00207 NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775 		JBrowse link
G Prodh proline dehydrogenase ISO SMPDB SMP:00207 NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305 		JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00207 NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184 		JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00207 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00207 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
propionic acidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00236 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00236 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00236 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00236 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00236 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00236 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00236 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00236 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00236 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00236 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00236 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00236 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00236 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00236 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00236 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00236 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00236 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00236 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00236 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00236 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00236 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00236 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00236 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00236 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00236 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00236 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00236 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00236 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00236 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00236 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		JBrowse link
purine nucleoside phosphorylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00210 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00210 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951 		JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00210 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760 		JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00210 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604 		JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00210 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00210 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00210 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431 		JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00210 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00210 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00210 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733 		JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00210 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00210 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00210 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125 		JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00210 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416 		JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00210 NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621 		JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00210 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875 		JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00210 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203 		JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00210 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916 		JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00210 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00210 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00210 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076 		JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00210 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00210 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00210 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00210 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00210 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001 		JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00210 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635 		JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00210 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563 		JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00210 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00210 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420 		JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00210 NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986 		JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00210 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144 		JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00210 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291 		JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00210 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261 		JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00210 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773 		JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00210 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629 		JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00210 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
pyruvate carboxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO SMPDB SMP:00350 NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147 		JBrowse link
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00350 NCBI chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090 		JBrowse link
G Agxt alanine--glyoxylate aminotransferase ISO SMPDB SMP:00350 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00350 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00350 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
pyruvate decarboxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaca acetyl-CoA carboxylase alpha ISO SMPDB SMP:00212 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00212 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00212 NCBI chr 2:22,986,867...23,027,538
Ensembl chr 2:22,986,626...23,027,536 		JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO SMPDB SMP:00212 NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675 		JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00212 NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00212 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00212 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00212 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
Ensembl chr 1:50,978,051...51,004,479 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00212 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Glo1 glyoxalase 1 ISO SMPDB SMP:00212 NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00212 NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO SMPDB SMP:00212 NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504 		JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00212 NCBI chr19:39,583,529...39,588,397
Ensembl chr19:39,573,621...39,595,575 		JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00212 NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925 		JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00212 NCBI chr 8:87,549,043...87,660,251
Ensembl chr 8:87,549,043...87,660,304 		JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00212 NCBI chr18:67,350,833...67,400,987
Ensembl chr18:67,355,795...67,400,987 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00212 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00212 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00212 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00212 NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500 		JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00212 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
pyruvate dehydrogenase E1 deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaca acetyl-CoA carboxylase alpha ISO SMPDB SMP:00334 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00334 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00334 NCBI chr 2:22,986,867...23,027,538
Ensembl chr 2:22,986,626...23,027,536 		JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO SMPDB SMP:00334 NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675 		JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00334 NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00334 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00334 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00334 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
Ensembl chr 1:50,978,051...51,004,479 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00334 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Glo1 glyoxalase 1 ISO SMPDB SMP:00334 NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00334 NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO SMPDB SMP:00334 NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504 		JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00334 NCBI chr19:39,583,529...39,588,397
Ensembl chr19:39,573,621...39,595,575 		JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00334 NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925 		JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00334 NCBI chr 8:87,549,043...87,660,251
Ensembl chr 8:87,549,043...87,660,304 		JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00334 NCBI chr18:67,350,833...67,400,987
Ensembl chr18:67,355,795...67,400,987 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00334 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00334 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00334 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00334 NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500 		JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00334 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
pyruvate dehydrogenase E2 deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO SMPDB SMP:00551 NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261 		JBrowse link
G Cs citrate synthase ISO SMPDB SMP:00551 NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00551 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
Ensembl chr 1:50,978,051...51,004,479 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00551 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00551 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296 		JBrowse link
G Fh fumarate hydratase ISO SMPDB SMP:00551 NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO SMPDB SMP:00551 NCBI chr 8:54,971,694...54,991,085
Ensembl chr 8:54,971,740...54,991,084 		JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO SMPDB SMP:00551 NCBI chr 3:117,481,845...117,486,909
Ensembl chr 3:117,481,845...117,486,982 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO SMPDB SMP:00551 NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00551 NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00551 NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
G Ogdh oxoglutarate dehydrogenase ISO SMPDB SMP:00551 NCBI chr14:81,150,021...81,217,479
Ensembl chr14:81,150,091...81,217,479 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00551 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00551 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00551 NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO SMPDB SMP:00551 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO SMPDB SMP:00551 NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO SMPDB SMP:00551 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO SMPDB SMP:00551 NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238 		JBrowse link
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO SMPDB SMP:00551 NCBI chr 4:105,308,236...105,337,595
Ensembl chr 4:105,308,039...105,337,600 		JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO SMPDB SMP:00551 NCBI chr 4:128,067,031...128,337,146
Ensembl chr 4:128,067,033...128,337,170 		JBrowse link
pyruvate dehydrogenase E3 deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO SMPDB SMP:00550 NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261 		JBrowse link
G Cs citrate synthase ISO SMPDB SMP:00550 NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00550 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
Ensembl chr 1:50,978,051...51,004,479 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00550 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00550 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296 		JBrowse link
G Fh fumarate hydratase ISO SMPDB SMP:00550 NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO SMPDB SMP:00550 NCBI chr 8:54,971,694...54,991,085
Ensembl chr 8:54,971,740...54,991,084 		JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO SMPDB SMP:00550 NCBI chr 3:117,481,845...117,486,909
Ensembl chr 3:117,481,845...117,486,982 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO SMPDB SMP:00550 NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00550 NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00550 NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
G Ogdh oxoglutarate dehydrogenase ISO SMPDB SMP:00550 NCBI chr14:81,150,021...81,217,479
Ensembl chr14:81,150,091...81,217,479 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00550 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00550 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00550 NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO SMPDB SMP:00550 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO SMPDB SMP:00550 NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO SMPDB SMP:00550 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO SMPDB SMP:00550 NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238 		JBrowse link
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO SMPDB SMP:00550 NCBI chr 4:105,308,236...105,337,595
Ensembl chr 4:105,308,039...105,337,600 		JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO SMPDB SMP:00550 NCBI chr 4:128,067,031...128,337,146
Ensembl chr 4:128,067,033...128,337,170 		JBrowse link
pyruvate kinase deficiency of red cells pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaca acetyl-CoA carboxylase alpha ISO SMPDB SMP:00559 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00559 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00559 NCBI chr 2:22,986,867...23,027,538
Ensembl chr 2:22,986,626...23,027,536 		JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO SMPDB SMP:00559 NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675 		JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00559 NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00559 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00559 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00559 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
Ensembl chr 1:50,978,051...51,004,479 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00559 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Glo1 glyoxalase 1 ISO SMPDB SMP:00559 NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00559 NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO SMPDB SMP:00559 NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504 		JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00559 NCBI chr19:39,583,529...39,588,397
Ensembl chr19:39,573,621...39,595,575 		JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00559 NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925 		JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00559 NCBI chr 8:87,549,043...87,660,251
Ensembl chr 8:87,549,043...87,660,304 		JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00559 NCBI chr18:67,350,833...67,400,987
Ensembl chr18:67,355,795...67,400,987 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00559 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00559 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00559 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00559 NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500 		JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00559 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		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 chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00451 NCBI chr 7:122,263,034...122,311,642
Ensembl chr 7:122,263,032...122,311,642 		JBrowse link
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 ISO SMPDB SMP:00451 NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281 		JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO SMPDB SMP:00451 NCBI chr16:6,826,881...6,863,027
Ensembl chr16:6,824,906...6,863,027 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO SMPDB SMP:00451 NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
G Slc27a2 solute carrier family 27 member 2 ISO SMPDB SMP:00451 NCBI chr 3:113,804,728...113,842,208
Ensembl chr 3:113,804,728...113,842,208 		JBrowse link
ribose 5-phosphate isomerase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00519 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00519 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Dera deoxyribose-phosphate aldolase ISO SMPDB SMP:00519 NCBI chr 4:170,663,689...170,742,469
Ensembl chr 4:170,663,665...170,758,865 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00519 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO SMPDB SMP:00519 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00519 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Pfkl phosphofructokinase, liver type ISO SMPDB SMP:00519 NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315 		JBrowse link
G Pgd phosphogluconate dehydrogenase ISO SMPDB SMP:00519 NCBI chr 5:159,582,746...159,598,945
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Pgls 6-phosphogluconolactonase ISO SMPDB SMP:00519 NCBI chr16:18,300,317...18,305,803
Ensembl chr16:18,300,317...18,305,803 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00519 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00519 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291 		JBrowse link
G Rbks ribokinase ISO SMPDB SMP:00519 NCBI chr 6:24,747,651...24,824,290
Ensembl chr 6:24,747,293...24,824,290 		JBrowse link
G Rpe ribulose-5-phosphate-3-epimerase ISO SMPDB SMP:00519 NCBI chr 9:68,191,027...68,211,295
Ensembl chr 9:68,191,292...68,211,591 		JBrowse link
G Rpia ribose 5-phosphate isomerase A ISO SMPDB SMP:00519 NCBI chr 4:102,723,712...102,749,374
Ensembl chr 4:102,723,712...102,749,355 		JBrowse link
G Taldo1 transaldolase 1 ISO SMPDB SMP:00519 NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974 		JBrowse link
G Tkt transketolase ISO SMPDB SMP:00519 NCBI chr16:5,723,764...5,748,702
Ensembl chr16:5,723,762...5,748,698 		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 chr16:29,509,392...29,544,332
Ensembl chr16:29,509,394...29,544,332 		JBrowse link
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00239 SMP:00528 NCBI chr 4:51,606,461...51,663,136
Ensembl chr 4:51,606,462...51,663,136 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO SMPDB SMP:00239 SMP:00528 NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193 		JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00239 SMP:00528 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353 		JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00239 SMP:00528 NCBI chr10:62,769,874...62,783,484
Ensembl chr10:62,769,900...62,782,370 		JBrowse link
G Slc25a2 solute carrier family 25 member 2 ISO SMPDB SMP:00239 SMP:00528 NCBI chr18:29,452,943...29,456,324
Ensembl chr18:29,453,582...29,460,383 		JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00239 SMP:00528 NCBI chr16:51,417,478...51,470,784
Ensembl chr16:51,417,493...51,470,784 		JBrowse link
sarcosinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate aminotransferase ISO SMPDB SMP:00244 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00244 NCBI chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00244 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00244 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126 		JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00244 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00244 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00244 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00244 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00244 NCBI chr 2:24,912,600...24,987,533
Ensembl chr 2:24,912,578...24,987,528 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00244 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00244 NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00244 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Gcat glycine C-acetyltransferase ISO SMPDB SMP:00244 NCBI chr 7:110,595,126...110,601,474
Ensembl chr 7:110,595,091...110,601,473 		JBrowse link
G Gldc glycine decarboxylase ISO SMPDB SMP:00244 NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097 		JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00244 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397 		JBrowse link
G Gnmt glycine N-methyltransferase ISO SMPDB SMP:00244 NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434 		JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00244 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO SMPDB SMP:00244 NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00244 NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682 		JBrowse link
G Psph phosphoserine phosphatase ISO SMPDB SMP:00244 NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074 		JBrowse link
G Sardh sarcosine dehydrogenase ISO SMPDB SMP:00244 NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874 		JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00244 NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277 		JBrowse link
G Sds serine dehydratase ISO SMPDB SMP:00244 NCBI chr12:36,083,226...36,090,540
Ensembl chr12:36,083,229...36,088,203 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00244 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00244 NCBI chr 7:63,358,961...63,364,293
Ensembl chr 7:63,358,961...63,364,236 		JBrowse link
G Srr serine racemase ISO SMPDB SMP:00244 NCBI chr10:59,769,563...59,786,688
Ensembl chr10:59,769,571...59,787,011 		JBrowse link
short-chain acyl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00235 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00235 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00235 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00235 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00235 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO SMPDB SMP:00235 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00235 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00235 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00235 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00235 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00235 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00235 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00235 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00235 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869 		JBrowse link
sialic acid storage disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amdhd2 amidohydrolase domain containing 2 ISO SMPDB SMP:00240 NCBI chr10:13,187,579...13,196,148
Ensembl chr10:13,187,578...13,196,095 		JBrowse link
G Chit1 chitinase 1 ISO SMPDB SMP:00240 NCBI chr13:45,565,841...45,613,593
Ensembl chr13:45,593,845...45,613,592 		JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00240 NCBI chr 4:175,718,808...175,737,128
Ensembl chr 4:175,718,808...175,737,125 		JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00240 NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00240 NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00240 NCBI chr18:30,165,435...30,177,462
Ensembl chr18:30,165,427...30,177,486 		JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00240 NCBI chr15:18,596,180...18,608,854
Ensembl chr15:18,596,442...18,608,739 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00240 NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013 		JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00240 NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00240 NCBI chr 4:116,281,179...116,293,870
Ensembl chr 4:116,281,328...116,313,137 		JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00240 NCBI chr 3:139,826,549...139,841,655
Ensembl chr 3:139,826,549...139,841,648 		JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00240 NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950 		JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00240 NCBI chr13:65,655,099...65,697,464
Ensembl chr13:65,655,118...65,697,372 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00240 NCBI chr 8:87,518,317...87,536,021
Ensembl chr 8:87,517,701...87,536,022 		JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00240 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO SMPDB SMP:00240 NCBI chr 8:79,394,416...79,429,387 JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00240 NCBI chr13:82,342,946...82,377,558
Ensembl chr13:82,342,946...82,377,469
Ensembl chr 6:82,342,946...82,377,469 		JBrowse link
Smith-Lemli-Opitz Syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00389 NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821 		JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00389 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
Ensembl chr 6:30,036,865...30,055,410 		JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00389 NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00389 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00389 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00389 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00389 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00389 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00389 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100 		JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00389 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017 		JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00389 NCBI chr17:61,629,592...61,637,357
Ensembl chr17:61,629,594...61,637,357 		JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00389 NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633 		JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00389 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00389 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00389 NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971 		JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00389 NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO SMPDB SMP:00389 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00389 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364 		JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00389 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273 		JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00389 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494 		JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00389 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618 		JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00389 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270 		JBrowse link
succinic semialdehyde dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00243 SMP:00567 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00243 SMP:00567 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00243 SMP:00567 NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00243 SMP:00567 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO SMPDB SMP:00243 SMP:00567 NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535 		JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471 		JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00243 SMP:00567 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Glul glutamate-ammonia ligase ISO SMPDB SMP:00243 SMP:00567 NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108 		JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00243 SMP:00567 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875 		JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr15:18,596,180...18,608,854
Ensembl chr15:18,596,442...18,608,739 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00243 SMP:00567 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00243 SMP:00567 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00243 SMP:00567 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00243 SMP:00567 NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198 		JBrowse link
G Nadsyn1 NAD synthetase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869 		JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00243 SMP:00567 NCBI chr 4:116,281,179...116,293,870
Ensembl chr 4:116,281,328...116,313,137 		JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00243 SMP:00567 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739 		JBrowse link
sulfite oxidase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO SMPDB SMP:00532 NCBI chr13:96,865,634...96,893,506
Ensembl chr13:96,868,580...96,893,503 		JBrowse link
G Chst11 carbohydrate sulfotransferase 11 ISO SMPDB SMP:00532 NCBI chr 7:20,524,535...20,743,008
Ensembl chr 7:20,528,100...20,743,111 		JBrowse link
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO SMPDB SMP:00532 NCBI chr 1:230,454,314...230,539,332
Ensembl chr 1:230,454,426...230,539,331 		JBrowse link
G Sult1a1 sulfotransferase family 1A member 1 ISO SMPDB SMP:00532 NCBI chr 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562 		JBrowse link
G Sult1e1 sulfotransferase family 1E member 1 ISO SMPDB SMP:00532 NCBI chr14:20,422,324...20,439,562
Ensembl chr14:20,422,324...20,439,275 		JBrowse link
G Sult2b1 sulfotransferase family 2B member 1 ISO SMPDB SMP:00532 NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295 		JBrowse link
G Suox sulfite oxidase ISO SMPDB SMP:00532 NCBI chr 7:1,103,149...1,107,156
Ensembl chr 7:1,103,151...1,107,038 		JBrowse link
Tay-Sachs disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amdhd2 amidohydrolase domain containing 2 ISO SMPDB SMP:00390 NCBI chr10:13,187,579...13,196,148
Ensembl chr10:13,187,578...13,196,095 		JBrowse link
G Chit1 chitinase 1 ISO SMPDB SMP:00390 NCBI chr13:45,565,841...45,613,593
Ensembl chr13:45,593,845...45,613,592 		JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00390 NCBI chr 4:175,718,808...175,737,128
Ensembl chr 4:175,718,808...175,737,125 		JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00390 NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00390 NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00390 NCBI chr18:30,165,435...30,177,462
Ensembl chr18:30,165,427...30,177,486 		JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00390 NCBI chr15:18,596,180...18,608,854
Ensembl chr15:18,596,442...18,608,739 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00390 NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013 		JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00390 NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00390 NCBI chr 4:116,281,179...116,293,870
Ensembl chr 4:116,281,328...116,313,137 		JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00390 NCBI chr 3:139,826,549...139,841,655
Ensembl chr 3:139,826,549...139,841,648 		JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00390 NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950 		JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00390 NCBI chr13:65,655,099...65,697,464
Ensembl chr13:65,655,118...65,697,372 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00390 NCBI chr 8:87,518,317...87,536,021
Ensembl chr 8:87,517,701...87,536,022 		JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00390 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO SMPDB SMP:00390 NCBI chr 8:79,394,416...79,429,387 JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00390 NCBI chr13:82,342,946...82,377,558
Ensembl chr13:82,342,946...82,377,469
Ensembl chr 6:82,342,946...82,377,469 		JBrowse link
transaldolase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00520 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00520 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Dera deoxyribose-phosphate aldolase ISO SMPDB SMP:00520 NCBI chr 4:170,663,689...170,742,469
Ensembl chr 4:170,663,665...170,758,865 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00520 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO SMPDB SMP:00520 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00520 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Pfkl phosphofructokinase, liver type ISO SMPDB SMP:00520 NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315 		JBrowse link
G Pgd phosphogluconate dehydrogenase ISO SMPDB SMP:00520 NCBI chr 5:159,582,746...159,598,945
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Pgls 6-phosphogluconolactonase ISO SMPDB SMP:00520 NCBI chr16:18,300,317...18,305,803
Ensembl chr16:18,300,317...18,305,803 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00520 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00520 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291 		JBrowse link
G Rbks ribokinase ISO SMPDB SMP:00520 NCBI chr 6:24,747,651...24,824,290
Ensembl chr 6:24,747,293...24,824,290 		JBrowse link
G Rpe ribulose-5-phosphate-3-epimerase ISO SMPDB SMP:00520 NCBI chr 9:68,191,027...68,211,295
Ensembl chr 9:68,191,292...68,211,591 		JBrowse link
G Rpia ribose 5-phosphate isomerase A ISO SMPDB SMP:00520 NCBI chr 4:102,723,712...102,749,374
Ensembl chr 4:102,723,712...102,749,355 		JBrowse link
G Taldo1 transaldolase 1 ISO SMPDB SMP:00520 NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974 		JBrowse link
G Tkt transketolase ISO SMPDB SMP:00520 NCBI chr16:5,723,764...5,748,702
Ensembl chr16:5,723,762...5,748,698 		JBrowse link
trifunctional protein deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00545 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00545 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00545 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00545 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00545 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO SMPDB SMP:00545 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00545 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00545 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00545 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00545 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00545 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00545 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00545 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00545 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869 		JBrowse link
triosephosphate isomerase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00563 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00563 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00563 NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581 		JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00563 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
Ensembl chr 3:160,719,951...160,731,336 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00563 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00563 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00563 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00563 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00563 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00563 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00563 NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00563 NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00563 NCBI chr 1:232,324,718...232,395,445
Ensembl chr 1:232,328,430...232,396,829 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00563 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00563 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00563 NCBI chr 1:240,723,832...240,731,443
Ensembl chr 1:240,723,920...240,738,452 		JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00563 NCBI chr14:80,681,796...80,683,907
Ensembl chr14:80,681,776...80,683,940 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00563 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00563 NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00563 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00563 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00563 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		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 chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681 		JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO SMPDB SMP:00218 NCBI chr 4:77,812,260...77,831,846
Ensembl chr 4:77,812,260...77,831,840 		JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00218 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00218 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00218 NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836 		JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00218 NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208 		JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00218 NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00218 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00218 NCBI chr 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284 		JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00218 NCBI chr 6:10,845,235...10,864,863
Ensembl chr 6:10,845,771...10,864,877 		JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00218 NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323 		JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00218 NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766 		JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00218 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Mif macrophage migration inhibitory factor ISO SMPDB SMP:00218 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504 		JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO SMPDB SMP:00218 NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556 		JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00218 NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031 		JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00218 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		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 chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505 		JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00369 NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980 		JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00369 NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00369 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00369 NCBI chr 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284 		JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00369 NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323 		JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00369 NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766 		JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00369 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562 		JBrowse link
G Pah phenylalanine hydroxylase ISO SMPDB SMP:00369 NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00369 NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031 		JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00369 NCBI chr 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833 		JBrowse link
tyrosinemia type III pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO SMPDB SMP:00434 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Abcc1 ATP binding cassette subfamily C member 1 ISO SMPDB SMP:00434 NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114 		JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO SMPDB SMP:00434 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238 		JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISO SMPDB SMP:00434 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00370 NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505 		JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00370 NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980 		JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00370 NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00370 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00370 NCBI chr 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284 		JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00370 NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323 		JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00370 NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766 		JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00370 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562 		JBrowse link
G Pah phenylalanine hydroxylase ISO SMPDB SMP:00370 NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Slco1b2 solute carrier organic anion transporter family member 1B2 ISO SMPDB SMP:00434 NCBI chr 4:174,551,463...174,619,988
Ensembl chr 4:174,551,480...174,619,981 		JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00370 NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031 		JBrowse link
G Tuba1b tubulin, alpha 1B ISO SMPDB SMP:00434 NCBI chr 7:130,090,663...130,093,644
Ensembl chr 7:130,081,032...130,196,186 		JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO SMPDB SMP:00434 NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063 		JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00370 NCBI chr 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833 		JBrowse link
variegate porphyria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO SMPDB SMP:00346 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474 		JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00346 NCBI chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917 		JBrowse link
G Blvra biliverdin reductase A ISO SMPDB SMP:00346 NCBI chr 3:114,340,778...114,366,048
Ensembl chr 3:114,340,838...114,366,033 		JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO SMPDB SMP:00346 NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667 		JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO SMPDB SMP:00346 NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261 		JBrowse link
G Cpox coproporphyrinogen oxidase ISO SMPDB SMP:00346 NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746 		JBrowse link
G Fech ferrochelatase ISO SMPDB SMP:00346 NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348 		JBrowse link
G Ftmt ferritin mitochondrial ISO SMPDB SMP:00346 NCBI chr18:45,758,874...45,760,123
Ensembl chr18:45,758,874...45,760,123 		JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00346 NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO SMPDB SMP:00346 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957 		JBrowse link
G Hmox1 heme oxygenase 1 ISO SMPDB SMP:00346 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Ppox protoporphyrinogen oxidase ISO SMPDB SMP:00346 NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805 		JBrowse link
G Urod uroporphyrinogen decarboxylase ISO SMPDB SMP:00346 NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808 		JBrowse link
G Uros uroporphyrinogen III synthase ISO SMPDB SMP:00346 NCBI chr 1:188,490,832...188,513,659
Ensembl chr 1:188,490,323...188,512,249 		JBrowse link
very long-chain acyl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00540 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00540 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00540 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00540 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00540 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO SMPDB SMP:00540 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00540 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00540 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00540 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00540 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00540 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00540 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00540 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00540 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869 		JBrowse link
Wolman disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821 		JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
Ensembl chr 6:30,036,865...30,055,410 		JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00319 SMP:00511 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100 		JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00319 SMP:00511 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017 		JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr17:61,629,592...61,637,357
Ensembl chr17:61,629,594...61,637,357 		JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00319 SMP:00511 NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633 		JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00319 SMP:00511 NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971 		JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO SMPDB SMP:00319 SMP:00511 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364 		JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273 		JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494 		JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618 		JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270 		JBrowse link
X-linked dominant chondrodysplasia punctata 2 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00388 NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821 		JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00388 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
Ensembl chr 6:30,036,865...30,055,410 		JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00388 NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00388 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00388 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00388 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00388 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00388 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00388 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100 		JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00388 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017 		JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00388 NCBI chr17:61,629,592...61,637,357
Ensembl chr17:61,629,594...61,637,357 		JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00388 NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633 		JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00388 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00388 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00388 NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971 		JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00388 NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO SMPDB SMP:00388 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00388 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364 		JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00388 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273 		JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00388 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494 		JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00388 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618 		JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00388 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270 		JBrowse link
xanthinuria type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00512 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00512 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951 		JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00512 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760 		JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00512 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604 		JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00512 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00512 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00512 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431 		JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00512 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00512 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00512 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733 		JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00512 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00512 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00512 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125 		JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00512 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416 		JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00512 NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621 		JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00512 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875 		JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00512 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203 		JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00512 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916 		JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00512 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00512 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00512 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076 		JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00512 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00512 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00512 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00512 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00512 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001 		JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00512 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635 		JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00512 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563 		JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00512 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00512 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420 		JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00512 NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986 		JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00512 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144 		JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00512 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291 		JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00512 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261 		JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00512 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773 		JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00512 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629 		JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00512 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
xanthinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00220 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00220 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951 		JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00220 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760 		JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00220 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604 		JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00220 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00220 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00220 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431 		JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00220 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00220 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00220 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733 		JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00220 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00220 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00220 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125 		JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00220 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416 		JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00220 NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621 		JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00220 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875 		JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00220 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203 		JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00220 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916 		JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00220 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00220 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00220 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076 		JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00220 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00220 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00220 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00220 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00220 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001 		JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00220 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635 		JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00220 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563 		JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00220 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00220 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420 		JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00220 NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986 		JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00220 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144 		JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00220 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291 		JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00220 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261 		JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00220 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773 		JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00220 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629 		JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00220 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
xanthinuria type II pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00513 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00513 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951 		JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00513 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760 		JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00513 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604 		JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00513 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00513 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00513 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431 		JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00513 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00513 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00513 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733 		JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00513 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00513 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00513 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125 		JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00513 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416 		JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00513 NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621 		JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00513 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875 		JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00513 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203 		JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00513 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916 		JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00513 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00513 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00513 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076 		JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00513 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00513 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00513 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00513 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00513 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001 		JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00513 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635 		JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00513 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563 		JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00513 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00513 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420 		JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00513 NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986 		JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00513 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144 		JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00513 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291 		JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00513 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261 		JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00513 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773 		JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00513 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629 		JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00513 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  pathway 6092
    disease pathway 1954
      congenital disease pathway 530
        inborn genetic disease pathway 530
          X-linked genetic disease pathway + 92
          Y-linked genetic disease pathway 0
          congenital adrenal hyperplasia pathway + 10
          inborn error of metabolism pathway + 530
          osteochondrodysplasia pathway + 22
paths to the root