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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:metabolic disease pathway
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Accession:PW:0001472 term browser browse the term
Definition:Those diseases and disorders that are caused by deregulation of a metabolic pathway. It can be due to an inherited defect in an enzyme function and thus congenital, or acquired, when resulting from the failure or malfunctioning of an important metabolic organ.
Synonyms:related_synonym: Diseases of metabolism


show annotations for term's descendants           Sort by:
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
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 Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00138 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: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 		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 (quinone) 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 		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 steroid dehydrogenase-like 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 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, 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 		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 		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 steroid dehydrogenase-like 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
diabetes mellitus pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 IDA RGD PMID:18025464 RGD:2301904 NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Sod3 superoxide dismutase 3 ISO RGD PMID:12830380 RGD:1581299 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990 		JBrowse link
diabetic nephropathy 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 ISS RGD PMID:9215310 RGD:734542 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Spp1 secreted phosphoprotein 1 IDA RGD PMID:16528250 RGD:1581322 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162 		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 (quinone) 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