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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 (https://rgd.mcw.edu/rgdweb/contact/contactus.html).
Term:congenital disease pathway
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Accession:PW:0001476 term browser browse the term
Definition:Those diseases present at birth and also before birth, or those that develop during the first month of life. Alteration(s) in one or several pathways can contribute to the development of the condition usually manifested in structural deformities.
Synonyms:related_synonym: congenital disorder pathway


show annotations for term's descendants           Sort by:
11-beta-hydroxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00575 NCBI chr16:1,499,251...1,583,965 JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO SMPDB SMP:00575 NCBI chr30:37,474,997...37,487,028
Ensembl chr30:37,473,901...37,487,507 		JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO SMPDB SMP:00575 NCBI chr13:36,866,476...36,880,625 JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO SMPDB SMP:00575 NCBI chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852 		JBrowse link
G CYP21A2 cytochrome P450c21 ISO SMPDB SMP:00575 NCBI chr12:1,450,677...1,453,700
Ensembl chr12:1,450,677...1,453,734 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00575 NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897 		JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00575 NCBI chr 5:81,966,397...81,970,301
Ensembl chr 5:81,966,937...81,968,991 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00575 NCBI chr17:56,552,945...56,561,062
Ensembl chr17:56,552,945...56,561,062 		JBrowse link
17-alpha-hydroxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00372 NCBI chr16:1,499,251...1,583,965 JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO SMPDB SMP:00372 NCBI chr30:37,474,997...37,487,028
Ensembl chr30:37,473,901...37,487,507 		JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO SMPDB SMP:00372 NCBI chr13:36,866,476...36,880,625 JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO SMPDB SMP:00372 NCBI chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852 		JBrowse link
G CYP21A2 cytochrome P450c21 ISO SMPDB SMP:00372 NCBI chr12:1,450,677...1,453,700
Ensembl chr12:1,450,677...1,453,734 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00372 NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897 		JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00372 NCBI chr 5:81,966,397...81,970,301
Ensembl chr 5:81,966,937...81,968,991 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00372 NCBI chr17:56,552,945...56,561,062
Ensembl chr17:56,552,945...56,561,062 		JBrowse link
2-aminoadipic 2-oxoadipic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AADAT aminoadipate aminotransferase ISO SMPDB SMP:00719 NCBI chr25:20,920,118...20,944,251
Ensembl chr25:20,920,139...20,945,387 		JBrowse link
G AASS aminoadipate-semialdehyde synthase ISO SMPDB SMP:00719 NCBI chr14:59,950,123...59,993,457
Ensembl chr14:59,951,216...60,000,212 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00719 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00719 NCBI chr11:15,828,581...15,878,556
Ensembl chr11:15,815,936...15,878,516 		JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00719 NCBI chr 2:24,298,323...24,349,848
Ensembl chr 2:24,299,789...24,349,899 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00719 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00719 NCBI chr 8:48,003,730...48,025,001
Ensembl chr 8:48,002,211...48,024,999 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00719 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849 		JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr32:28,460,445...28,506,141
Ensembl chr32:28,460,193...28,531,280 		JBrowse link
G PIPOX pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00719 NCBI chr 9:43,200,343...43,212,288
Ensembl chr 9:43,200,371...43,212,288 		JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO SMPDB SMP:00719 NCBI chr 2:36,286,080...36,287,619
Ensembl chr 2:36,286,584...36,287,489 		JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO SMPDB SMP:00719 NCBI chr16:40,855,270...40,879,956
Ensembl chr16:40,745,458...40,875,106 		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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00136 NCBI chr 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540 		JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 ISO SMPDB SMP:00136 NCBI chr35:22,560,005...22,590,996
Ensembl chr35:22,560,008...22,587,875 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00136 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00136 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697 		JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00136 NCBI chr 6:22,276,189...22,299,865
Ensembl chr 6:22,276,230...22,297,428 		JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00136 NCBI chr36:15,351,289...15,391,701
Ensembl chr36:15,349,683...15,391,824 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00136 NCBI chr12:20,999,815...21,047,779
Ensembl chr12:21,000,792...21,047,779 		JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00136 NCBI chr 6:55,204,602...55,244,217 JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00136 NCBI chr10:68,067,817...68,125,001
Ensembl chr10:68,073,062...68,125,007 		JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00136 NCBI chr10:722,105...737,857
Ensembl chr10:722,202...737,753 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00136 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GLUL glutamate-ammonia ligase ISO SMPDB SMP:00136 NCBI chr 7:15,730,898...15,740,241
Ensembl chr 7:15,730,898...15,740,241 		JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00136 NCBI chr23:49,569,571...49,645,999
Ensembl chr23:49,569,531...49,699,199 		JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00136 NCBI chr 8:28,992,173...29,005,511
Ensembl chr 8:28,993,227...29,005,435 		JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00136 NCBI chr 2:57,968,833...57,994,219
Ensembl chr 2:57,968,833...57,994,218 		JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00136 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156 		JBrowse link
G GSR glutathione-disulfide reductase ISO SMPDB SMP:00136 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752 		JBrowse link
G GSS glutathione synthetase ISO SMPDB SMP:00136 NCBI chr24:23,973,807...24,000,281
Ensembl chr24:23,901,045...23,997,286 		JBrowse link
G NADSYN1 NAD synthetase 1 ISO SMPDB SMP:00136 NCBI chr18:47,216,547...47,254,582
Ensembl chr18:47,216,577...47,254,514 		JBrowse link
G NAGK N-acetylglucosamine kinase ISO SMPDB SMP:00136 NCBI chr17:51,367,477...51,376,461 JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00136 NCBI chr13:48,618,460...48,656,164
Ensembl chr13:48,620,714...48,655,780 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00136 NCBI chr20:40,077,856...40,085,100
Ensembl chr20:40,078,163...40,085,099 		JBrowse link
21-alpha-hydroxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00373 NCBI chr16:1,499,251...1,583,965 JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO SMPDB SMP:00373 NCBI chr30:37,474,997...37,487,028
Ensembl chr30:37,473,901...37,487,507 		JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO SMPDB SMP:00373 NCBI chr13:36,866,476...36,880,625 JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO SMPDB SMP:00373 NCBI chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852 		JBrowse link
G CYP21A2 cytochrome P450c21 ISO SMPDB SMP:00373 NCBI chr12:1,450,677...1,453,700
Ensembl chr12:1,450,677...1,453,734 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00373 NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897 		JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00373 NCBI chr 5:81,966,397...81,970,301
Ensembl chr 5:81,966,937...81,968,991 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00373 NCBI chr17:56,552,945...56,561,062
Ensembl chr17:56,552,945...56,561,062 		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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00138 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00138 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00138 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00138 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00138 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00138 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00138 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00138 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283 		JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00138 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00138 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471 		JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00138 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00138 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00138 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802 		JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00138 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00138 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00138 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00138 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00138 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00138 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00138 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00138 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00138 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00138 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00138 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273 		JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00138 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830 		JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00138 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897 		JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00138 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00138 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00138 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366 		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 chr 7:79,028,636...79,057,720 JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00568 NCBI chr37:18,028,244...18,073,975
Ensembl chr37:18,017,087...18,073,862 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00568 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00568 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ACSS3 acyl-CoA synthetase short chain family member 3 ISO SMPDB SMP:00568 NCBI chr15:23,337,386...23,480,766
Ensembl chr15:23,338,432...23,478,593 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00568 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00568 NCBI chr32:28,460,445...28,506,141
Ensembl chr32:28,460,193...28,531,280 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00568 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574 		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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00521 SMP:00522 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283 		JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471 		JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00521 SMP:00522 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802 		JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00521 SMP:00522 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00521 SMP:00522 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273 		JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830 		JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00521 SMP:00522 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897 		JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00521 SMP:00522 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00521 SMP:00522 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366 		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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00237 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00237 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00237 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00237 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00237 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00237 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00237 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00237 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283 		JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00237 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00237 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471 		JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00237 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00237 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00237 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802 		JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00237 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00237 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00237 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00237 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00237 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00237 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00237 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00237 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00237 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00237 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00237 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273 		JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00237 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830 		JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00237 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897 		JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00237 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00237 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00237 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366 		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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00139 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00139 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00139 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00139 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00139 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00139 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00139 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00139 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283 		JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00139 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00139 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471 		JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00139 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00139 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00139 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802 		JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00139 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00139 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00139 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00139 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00139 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00139 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00139 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00139 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00139 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00139 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00139 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273 		JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00139 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830 		JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00139 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897 		JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00139 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00139 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00139 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366 		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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00140 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00140 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00140 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00140 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00140 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00140 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00140 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00140 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283 		JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00140 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00140 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471 		JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00140 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00140 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00140 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802 		JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00140 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00140 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00140 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00140 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00140 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00140 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00140 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00140 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00140 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00140 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00140 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273 		JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00140 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830 		JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00140 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897 		JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00140 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00140 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00140 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366 		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 chr11:67,736,643...67,752,399
Ensembl chr11:67,741,390...67,752,321 		JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00344 NCBI chr20:37,552,813...37,566,417
Ensembl chr20:37,552,814...37,566,638 		JBrowse link
G BLVRA biliverdin reductase A ISO SMPDB SMP:00344 NCBI chr18:6,424,833...6,506,399
Ensembl chr18:6,426,255...6,495,647 		JBrowse link
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO SMPDB SMP:00344 NCBI chr 5:37,853,495...37,982,228
Ensembl chr 5:37,852,875...37,982,243 		JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 ISO SMPDB SMP:00344 NCBI chr28:12,609,690...12,625,467
Ensembl chr28:12,610,401...12,624,087 		JBrowse link
G CPOX coproporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chr33:5,446,022...5,459,152
Ensembl chr33:5,447,414...5,459,461 		JBrowse link
G FECH ferrochelatase ISO SMPDB SMP:00344 NCBI chr 1:18,352,184...18,384,251
Ensembl chr 1:18,345,811...18,383,092 		JBrowse link
G GUSB glucuronidase beta ISO SMPDB SMP:00344 NCBI chr 6:730,345...743,916
Ensembl chr 6:730,358...779,424 		JBrowse link
G HMBS hydroxymethylbilane synthase ISO SMPDB SMP:00344 NCBI chr 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082 		JBrowse link
G HMOX1 heme oxygenase 1 ISO SMPDB SMP:00344 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
G LOC608550 ferritin heavy chain-like ISO SMPDB SMP:00344 NCBI chr11:11,512,268...11,513,672 JBrowse link
G PPOX protoporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chr38:21,306,973...21,310,892
Ensembl chr38:21,306,974...21,311,012 		JBrowse link
G UROD uroporphyrinogen decarboxylase ISO SMPDB SMP:00344 NCBI chr15:15,313,808...15,317,130
Ensembl chr15:15,312,674...15,320,010 		JBrowse link
G UROS uroporphyrinogen III synthase ISO SMPDB SMP:00344 NCBI chr28:34,952,074...34,983,532
Ensembl chr28:34,948,003...34,983,532 		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 chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160 		JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00535 NCBI chr 7:30,576,445...30,660,926
Ensembl chr 7:30,577,591...30,660,926 		JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00535 NCBI chr10:24,813,854...24,832,115 JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00535 NCBI chr 7:35,440,250...35,477,470
Ensembl chr 7:35,440,676...35,476,795 		JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00535 NCBI chr 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132 		JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00535 NCBI chr17:52,377,411...52,399,525
Ensembl chr17:52,377,402...52,399,520 		JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00535 NCBI chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00535 NCBI chr26:37,749,799...37,811,490
Ensembl chr26:37,750,649...37,794,149 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00535 NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697 		JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00535 NCBI chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782 		JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00535 NCBI chr 8:47,193,463...47,245,865
Ensembl chr 8:47,196,439...47,229,964 		JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00535 NCBI chr 9:48,301,499...48,306,210
Ensembl chr 9:48,303,206...48,305,992 		JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00535 NCBI chr 1:85,506,598...85,586,212
Ensembl chr 1:85,444,917...85,586,163 		JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00535 NCBI chr35:15,400,937...15,449,157
Ensembl chr35:15,401,003...15,448,022 		JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00535 NCBI chr23:49,569,571...49,645,999
Ensembl chr23:49,569,531...49,699,199 		JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00535 NCBI chr 5:25,291,019...25,718,918
Ensembl chr 5:25,291,583...25,686,947 		JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00535 NCBI chr15:53,266,243...53,312,109
Ensembl chr15:53,265,350...53,312,111 		JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00535 NCBI chr14:820,048...826,694
Ensembl chr14:820,093...827,250 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00535 NCBI chr  X:105,115,732...105,153,702
Ensembl chr  X:105,115,732...105,153,702 		JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00535 NCBI chr14:8,001,575...8,013,181
Ensembl chr14:7,996,717...8,012,467 		JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00535 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163 		JBrowse link
G LOC100687127 thioredoxin-like ISO SMPDB SMP:00535 NCBI chr  X:82,986,288...82,986,753 JBrowse link
G LOC487740 trifunctional purine biosynthetic protein adenosine-3 ISO SMPDB SMP:00535 NCBI chr31:29,032,399...29,063,706 JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00535 NCBI chr20:40,769,394...40,778,802
Ensembl chr20:40,769,501...40,776,496 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00535 NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235 		JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00535 NCBI chr11:51,049,992...51,064,317
Ensembl chr11:51,050,053...51,064,178 		JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00535 NCBI chr 2:24,239,632...24,266,763
Ensembl chr 2:24,239,627...24,264,469 		JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00535 NCBI chr13:48,296,232...48,682,650 JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00535 NCBI chr 1:53,457,781...54,049,735
Ensembl chr 1:53,462,979...53,801,966 		JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00535 NCBI chr 2:45,843,767...47,245,263
Ensembl chr 2:45,846,294...46,949,912 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00535 NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287 		JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00535 NCBI chr15:17,808,454...17,815,987
Ensembl chr15:17,808,461...17,815,676 		JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00535 NCBI chr13:48,618,460...48,656,164
Ensembl chr13:48,620,714...48,655,780 		JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00535 NCBI chr21:26,595,838...26,631,476
Ensembl chr21:26,595,914...26,631,135 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00535 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939 		JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00535 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935 		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 chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160 		JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00537 NCBI chr 7:30,576,445...30,660,926
Ensembl chr 7:30,577,591...30,660,926 		JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00537 NCBI chr10:24,813,854...24,832,115 JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00537 NCBI chr 7:35,440,250...35,477,470
Ensembl chr 7:35,440,676...35,476,795 		JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00537 NCBI chr 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132 		JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00537 NCBI chr17:52,377,411...52,399,525
Ensembl chr17:52,377,402...52,399,520 		JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00537 NCBI chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00537 NCBI chr26:37,749,799...37,811,490
Ensembl chr26:37,750,649...37,794,149 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00537 NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697 		JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00537 NCBI chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782 		JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00537 NCBI chr 8:47,193,463...47,245,865
Ensembl chr 8:47,196,439...47,229,964 		JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00537 NCBI chr 9:48,301,499...48,306,210
Ensembl chr 9:48,303,206...48,305,992 		JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00537 NCBI chr 1:85,506,598...85,586,212
Ensembl chr 1:85,444,917...85,586,163 		JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00537 NCBI chr35:15,400,937...15,449,157
Ensembl chr35:15,401,003...15,448,022 		JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00537 NCBI chr23:49,569,571...49,645,999
Ensembl chr23:49,569,531...49,699,199 		JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00537 NCBI chr 5:25,291,019...25,718,918
Ensembl chr 5:25,291,583...25,686,947 		JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00537 NCBI chr15:53,266,243...53,312,109
Ensembl chr15:53,265,350...53,312,111 		JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00537 NCBI chr14:820,048...826,694
Ensembl chr14:820,093...827,250 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00537 NCBI chr  X:105,115,732...105,153,702
Ensembl chr  X:105,115,732...105,153,702 		JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00537 NCBI chr14:8,001,575...8,013,181
Ensembl chr14:7,996,717...8,012,467 		JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00537 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163 		JBrowse link
G LOC100687127 thioredoxin-like ISO SMPDB SMP:00537 NCBI chr  X:82,986,288...82,986,753 JBrowse link
G LOC487740 trifunctional purine biosynthetic protein adenosine-3 ISO SMPDB SMP:00537 NCBI chr31:29,032,399...29,063,706 JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00537 NCBI chr20:40,769,394...40,778,802
Ensembl chr20:40,769,501...40,776,496 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00537 NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235 		JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00537 NCBI chr11:51,049,992...51,064,317
Ensembl chr11:51,050,053...51,064,178 		JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00537 NCBI chr 2:24,239,632...24,266,763
Ensembl chr 2:24,239,627...24,264,469 		JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00537 NCBI chr13:48,296,232...48,682,650 JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00537 NCBI chr 1:53,457,781...54,049,735
Ensembl chr 1:53,462,979...53,801,966 		JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00537 NCBI chr 2:45,843,767...47,245,263
Ensembl chr 2:45,846,294...46,949,912 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00537 NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287 		JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00537 NCBI chr15:17,808,454...17,815,987
Ensembl chr15:17,808,461...17,815,676 		JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00537 NCBI chr13:48,618,460...48,656,164
Ensembl chr13:48,620,714...48,655,780 		JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00537 NCBI chr21:26,595,838...26,631,476
Ensembl chr21:26,595,914...26,631,135 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00537 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939 		JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00537 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935 		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 chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160 		JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00167 NCBI chr 7:30,576,445...30,660,926
Ensembl chr 7:30,577,591...30,660,926 		JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00167 NCBI chr10:24,813,854...24,832,115 JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00167 NCBI chr 7:35,440,250...35,477,470
Ensembl chr 7:35,440,676...35,476,795 		JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00167 NCBI chr 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132 		JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00167 NCBI chr17:52,377,411...52,399,525
Ensembl chr17:52,377,402...52,399,520 		JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00167 NCBI chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00167 NCBI chr26:37,749,799...37,811,490
Ensembl chr26:37,750,649...37,794,149 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00167 NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697 		JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00167 NCBI chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782 		JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00167 NCBI chr 8:47,193,463...47,245,865
Ensembl chr 8:47,196,439...47,229,964 		JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00167 NCBI chr 9:48,301,499...48,306,210
Ensembl chr 9:48,303,206...48,305,992 		JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00167 NCBI chr 1:85,506,598...85,586,212
Ensembl chr 1:85,444,917...85,586,163 		JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00167 NCBI chr35:15,400,937...15,449,157
Ensembl chr35:15,401,003...15,448,022 		JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00167 NCBI chr23:49,569,571...49,645,999
Ensembl chr23:49,569,531...49,699,199 		JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00167 NCBI chr 5:25,291,019...25,718,918
Ensembl chr 5:25,291,583...25,686,947 		JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00167 NCBI chr15:53,266,243...53,312,109
Ensembl chr15:53,265,350...53,312,111 		JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00167 NCBI chr14:820,048...826,694
Ensembl chr14:820,093...827,250 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00167 NCBI chr  X:105,115,732...105,153,702
Ensembl chr  X:105,115,732...105,153,702 		JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00167 NCBI chr14:8,001,575...8,013,181
Ensembl chr14:7,996,717...8,012,467 		JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00167 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163 		JBrowse link
G LOC100687127 thioredoxin-like ISO SMPDB SMP:00167 NCBI chr  X:82,986,288...82,986,753 JBrowse link
G LOC487740 trifunctional purine biosynthetic protein adenosine-3 ISO SMPDB SMP:00167 NCBI chr31:29,032,399...29,063,706 JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00167 NCBI chr20:40,769,394...40,778,802
Ensembl chr20:40,769,501...40,776,496 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00167 NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235 		JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00167 NCBI chr11:51,049,992...51,064,317
Ensembl chr11:51,050,053...51,064,178 		JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00167 NCBI chr 2:24,239,632...24,266,763
Ensembl chr 2:24,239,627...24,264,469 		JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00167 NCBI chr13:48,296,232...48,682,650 JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00167 NCBI chr 1:53,457,781...54,049,735
Ensembl chr 1:53,462,979...53,801,966 		JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00167 NCBI chr 2:45,843,767...47,245,263
Ensembl chr 2:45,846,294...46,949,912 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00167 NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287 		JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00167 NCBI chr15:17,808,454...17,815,987
Ensembl chr15:17,808,461...17,815,676 		JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00167 NCBI chr13:48,618,460...48,656,164
Ensembl chr13:48,620,714...48,655,780 		JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00167 NCBI chr21:26,595,838...26,631,476
Ensembl chr21:26,595,914...26,631,135 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00167 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939 		JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00167 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935 		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:121,545,690...121,564,117
Ensembl chr  X:121,545,586...121,563,186 		JBrowse link
G ABCD2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00516 NCBI chr27:14,015,093...14,084,362
Ensembl chr27:14,015,091...14,163,312 		JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00516 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00516 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809 		JBrowse link
G CRAT carnitine O-acetyltransferase ISO SMPDB SMP:00516 NCBI chr 9:54,566,708...54,580,301
Ensembl chr 9:54,566,407...54,580,025 		JBrowse link
G CROT carnitine O-octanoyltransferase ISO SMPDB SMP:00516 NCBI chr14:13,475,130...13,532,536
Ensembl chr14:13,475,235...13,532,536 		JBrowse link
G PEX11G peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00516 NCBI chr20:52,284,674...52,292,922
Ensembl chr20:52,282,762...52,292,888 		JBrowse link
G PEX13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00516 NCBI chr10:61,113,213...61,130,157
Ensembl chr10:61,123,655...61,193,241 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00516 NCBI chr 2:85,224,376...85,362,684
Ensembl chr 2:85,224,365...85,389,069 		JBrowse link
G SLC25A20 solute carrier family 25 member 20 ISO SMPDB SMP:00516 NCBI chr20:40,244,222...40,271,100
Ensembl chr20:40,244,229...40,270,433 		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 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540 		JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305 		JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697 		JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00362 SMP:00507 NCBI chr26:18,032,663...18,057,277
Ensembl chr26:18,033,392...18,057,238 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr38:14,754,628...14,823,626
Ensembl chr38:14,754,632...14,823,621 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr20:57,440,698...57,442,588 JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579 		JBrowse link
G LOC100855552 creatine kinase B-type ISO SMPDB SMP:00362 SMP:00507 NCBI chr 8:71,284,104...71,287,379 JBrowse link
G LOC477562 proline dehydrogenase 1, mitochondrial ISO SMPDB SMP:00362 SMP:00507 NCBI chr26:29,039,007...29,059,722 JBrowse link
G NOS1 nitric oxide synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332 		JBrowse link
G OAT ornithine aminotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr28:33,763,661...33,788,817
Ensembl chr28:33,758,473...33,788,759 		JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00362 SMP:00507 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595 		JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00362 SMP:00507 NCBI chr21:23,991,474...24,033,086
Ensembl chr21:23,991,469...24,032,642 		JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 7:38,902,705...38,905,924 JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:46,993,787...47,047,295
Ensembl chr12:46,992,959...47,047,240 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00362 SMP:00507 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054 		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 chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160 		JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00168 NCBI chr 7:30,576,445...30,660,926
Ensembl chr 7:30,577,591...30,660,926 		JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00168 NCBI chr10:24,813,854...24,832,115 JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00168 NCBI chr 7:35,440,250...35,477,470
Ensembl chr 7:35,440,676...35,476,795 		JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00168 NCBI chr 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132 		JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00168 NCBI chr17:52,377,411...52,399,525
Ensembl chr17:52,377,402...52,399,520 		JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00168 NCBI chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00168 NCBI chr26:37,749,799...37,811,490
Ensembl chr26:37,750,649...37,794,149 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00168 NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697 		JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00168 NCBI chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782 		JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00168 NCBI chr 8:47,193,463...47,245,865
Ensembl chr 8:47,196,439...47,229,964 		JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00168 NCBI chr 9:48,301,499...48,306,210
Ensembl chr 9:48,303,206...48,305,992 		JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00168 NCBI chr 1:85,506,598...85,586,212
Ensembl chr 1:85,444,917...85,586,163 		JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00168 NCBI chr35:15,400,937...15,449,157
Ensembl chr35:15,401,003...15,448,022 		JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00168 NCBI chr23:49,569,571...49,645,999
Ensembl chr23:49,569,531...49,699,199 		JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00168 NCBI chr 5:25,291,019...25,718,918
Ensembl chr 5:25,291,583...25,686,947 		JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00168 NCBI chr15:53,266,243...53,312,109
Ensembl chr15:53,265,350...53,312,111 		JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00168 NCBI chr14:820,048...826,694
Ensembl chr14:820,093...827,250 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00168 NCBI chr  X:105,115,732...105,153,702
Ensembl chr  X:105,115,732...105,153,702 		JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00168 NCBI chr14:8,001,575...8,013,181
Ensembl chr14:7,996,717...8,012,467 		JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00168 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163 		JBrowse link
G LOC100687127 thioredoxin-like ISO SMPDB SMP:00168 NCBI chr  X:82,986,288...82,986,753 JBrowse link
G LOC487740 trifunctional purine biosynthetic protein adenosine-3 ISO SMPDB SMP:00168 NCBI chr31:29,032,399...29,063,706 JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00168 NCBI chr20:40,769,394...40,778,802
Ensembl chr20:40,769,501...40,776,496 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00168 NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235 		JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00168 NCBI chr11:51,049,992...51,064,317
Ensembl chr11:51,050,053...51,064,178 		JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00168 NCBI chr 2:24,239,632...24,266,763
Ensembl chr 2:24,239,627...24,264,469 		JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00168 NCBI chr13:48,296,232...48,682,650 JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00168 NCBI chr 1:53,457,781...54,049,735
Ensembl chr 1:53,462,979...53,801,966 		JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00168 NCBI chr 2:45,843,767...47,245,263
Ensembl chr 2:45,846,294...46,949,912 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00168 NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287 		JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00168 NCBI chr15:17,808,454...17,815,987
Ensembl chr15:17,808,461...17,815,676 		JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00168 NCBI chr13:48,618,460...48,656,164
Ensembl chr13:48,620,714...48,655,780 		JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00168 NCBI chr21:26,595,838...26,631,476
Ensembl chr21:26,595,914...26,631,135 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00168 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939 		JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00168 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935 		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 chr 5:40,466,237...40,474,272
Ensembl chr 5:40,466,237...40,474,457 		JBrowse link
G AOC1 amine oxidase copper containing 1 ISO SMPDB SMP:00169 NCBI chr16:14,955,528...14,963,283
Ensembl chr16:14,958,658...15,036,651 		JBrowse link
G COMT catechol-O-methyltransferase ISO SMPDB SMP:00169 NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008 		JBrowse link
G DBH dopamine beta-hydroxylase ISO SMPDB SMP:00169 NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130 		JBrowse link
G DCT dopachrome tautomerase ISO SMPDB SMP:00169 NCBI chr22:45,271,709...45,305,272
Ensembl chr22:45,271,709...45,305,346 		JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00169 NCBI chr18:1,802,239...1,876,714
Ensembl chr18:1,803,273...1,867,616 		JBrowse link
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00169 NCBI chr 3:57,300,422...57,326,546
Ensembl chr 3:57,300,441...57,326,486 		JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00169 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579 		JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00169 NCBI chr 8:50,133,496...50,143,487
Ensembl chr 8:50,133,714...50,143,439 		JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00169 NCBI chr10:45,368,157...45,379,521
Ensembl chr10:45,368,178...45,379,160 		JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00169 NCBI chr33:24,066,099...24,107,827
Ensembl chr33:24,066,306...24,151,354 		JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00169 NCBI chr26:7,430,891...7,440,643
Ensembl chr26:7,430,933...7,440,611 		JBrowse link
G LOC100856533 alcohol dehydrogenase E chain ISO SMPDB SMP:00169 NCBI chr32:21,422,428...21,437,058 JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00169 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757 		JBrowse link
G MIF macrophage migration inhibitory factor ISO SMPDB SMP:00169
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00169 NCBI chr 9:22,808,505...22,810,587
Ensembl chr 9:22,808,601...22,810,551 		JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00169 NCBI chr 5:77,365,589...77,378,474
Ensembl chr 5:77,366,138...77,378,419 		JBrowse link
G TYR tyrosinase ISO SMPDB SMP:00169 NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
apparent mineralocorticoid excess syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00717 NCBI chr16:1,499,251...1,583,965 JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO SMPDB SMP:00717 NCBI chr30:37,474,997...37,487,028
Ensembl chr30:37,473,901...37,487,507 		JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO SMPDB SMP:00717 NCBI chr13:36,866,476...36,880,625 JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO SMPDB SMP:00717 NCBI chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852 		JBrowse link
G CYP21A2 cytochrome P450c21 ISO SMPDB SMP:00717 NCBI chr12:1,450,677...1,453,700
Ensembl chr12:1,450,677...1,453,734 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00717 NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897 		JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00717 NCBI chr 5:81,966,397...81,970,301
Ensembl chr 5:81,966,937...81,968,991 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00717 NCBI chr17:56,552,945...56,561,062
Ensembl chr17:56,552,945...56,561,062 		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 chr12:242,717...255,736
Ensembl chr12:242,714...255,305 		JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00003 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00003 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00003 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697 		JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00003 NCBI chr10:722,105...737,857
Ensembl chr10:722,202...737,753 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00003 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00003 NCBI chr 2:57,968,833...57,994,219
Ensembl chr 2:57,968,833...57,994,218 		JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00003 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156 		JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00003 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00003 NCBI chr10:64,482,840...64,508,288
Ensembl chr10:64,483,060...64,505,747 		JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00003 NCBI chr 1:109,150,205...109,161,375
Ensembl chr 1:109,150,205...109,161,141 		JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00003 NCBI chr36:16,185,011...16,391,080
Ensembl chr36:16,185,649...16,483,016 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00003 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054 		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 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130 		JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00170 NCBI chr18:1,802,239...1,876,714
Ensembl chr18:1,803,273...1,867,616 		JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00170 NCBI chr 9:22,808,505...22,810,587
Ensembl chr 9:22,808,601...22,810,551 		JBrowse link
G TH tyrosine hydroxylase ISO SMPDB SMP:00170 NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602 		JBrowse link
beta-ureidopropionase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00172 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635 		JBrowse link
G CANT1 calcium activated nucleotidase 1 ISO SMPDB SMP:00172 NCBI chr 9:2,428,107...2,460,097 JBrowse link
G CDA cytidine deaminase ISO SMPDB SMP:00172 NCBI chr 2:78,305,328...78,327,229
Ensembl chr 2:78,304,726...78,327,247 		JBrowse link
G CMPK2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00172 NCBI chr17:4,466,615...4,478,546 JBrowse link
G CTPS1 CTP synthase 1 ISO SMPDB SMP:00172 NCBI chr15:2,067,767...2,093,014
Ensembl chr15:2,067,763...2,093,014 		JBrowse link
G DCTD dCMP deaminase ISO SMPDB SMP:00172 NCBI chr16:47,350,493...47,376,184
Ensembl chr16:47,350,357...47,375,127
Ensembl chr16:47,350,357...47,375,127 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00172 NCBI chr 5:77,756,411...77,766,207
Ensembl chr 5:77,756,407...77,774,090 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO SMPDB SMP:00172 NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923 		JBrowse link
G DPYS dihydropyrimidinase ISO SMPDB SMP:00172 NCBI chr13:5,583,795...5,659,355
Ensembl chr13:5,583,801...5,659,463 		JBrowse link
G DUT deoxyuridine triphosphatase ISO SMPDB SMP:00172 NCBI chr30:14,572,766...14,585,621
Ensembl chr30:14,572,602...14,585,530 		JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00172 NCBI chr 1:85,506,598...85,586,212
Ensembl chr 1:85,444,917...85,586,163 		JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00172 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163 		JBrowse link
G LOC480491 GTP:AMP phosphotransferase AK3, mitochondrial ISO SMPDB SMP:00172 NCBI chr 9:10,282,452...10,283,479 JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00172 NCBI chr20:40,769,394...40,778,802
Ensembl chr20:40,769,501...40,776,496 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00172 NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00172 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00172 NCBI chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934 		JBrowse link
G TK1 thymidine kinase 1 ISO SMPDB SMP:00172 NCBI chr 9:2,959,450...2,970,908
Ensembl chr 9:2,959,488...2,971,064 		JBrowse link
G TYMS thymidylate synthetase ISO SMPDB SMP:00172 NCBI chr 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747 		JBrowse link
G UCKL1 uridine-cytidine kinase 1 like 1 ISO SMPDB SMP:00172 NCBI chr24:47,412,520...47,423,222
Ensembl chr24:47,412,521...47,432,860 		JBrowse link
G UMPS uridine monophosphate synthetase ISO SMPDB SMP:00172 NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514 		JBrowse link
G UPB1 beta-ureidopropionase 1 ISO SMPDB SMP:00172 NCBI chr26:28,194,968...28,225,977
Ensembl chr26:28,195,081...28,225,567 		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 chr23:27,037,640...27,069,544
Ensembl chr23:27,037,921...27,069,456 		JBrowse link
G HLCS holocarboxylase synthetase ISO SMPDB SMP:00174 NCBI chr31:31,934,796...32,159,866
Ensembl chr31:31,937,087...32,150,861 		JBrowse link
G SPCS1 signal peptidase complex subunit 1 ISO SMPDB SMP:00174 NCBI chr20:37,091,420...37,092,972
Ensembl chr20:37,091,792...37,263,577 		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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00175 NCBI chr10:24,813,854...24,832,115 JBrowse link
G ADSS1 adenylosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chr 8:72,288,246...72,305,479
Ensembl chr 8:72,288,323...72,305,479 		JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00175 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424 		JBrowse link
G ASNS asparagine synthetase (glutamine-hydrolyzing) ISO SMPDB SMP:00175 NCBI chr14:22,718,020...22,734,109
Ensembl chr14:22,718,042...22,734,054 		JBrowse link
G ASPA aspartoacylase ISO SMPDB SMP:00175 NCBI chr 9:47,338,435...47,361,974
Ensembl chr 9:47,343,120...47,360,914 		JBrowse link
G ASRGL1 asparaginase and isoaspartyl peptidase 1 ISO SMPDB SMP:00175 NCBI chr18:54,215,920...54,238,094
Ensembl chr18:54,216,926...54,238,059 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00175 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635 		JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chr19:38,690,170...38,751,360
Ensembl chr19:38,668,527...38,751,310 		JBrowse link
G DDO D-aspartate oxidase ISO SMPDB SMP:00175 NCBI chr12:67,080,646...67,104,429
Ensembl chr12:67,081,329...67,104,397
Ensembl chr12:67,081,329...67,104,397 		JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00175 NCBI chr36:15,351,289...15,391,701
Ensembl chr36:15,349,683...15,391,824 		JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00175 NCBI chr 1:106,636,282...106,673,438
Ensembl chr 1:106,657,477...106,673,422 		JBrowse link
G NARS1 asparaginyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chr 1:18,320,941...18,338,185
Ensembl chr 1:18,321,021...18,337,430 		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 chr12:242,717...255,736
Ensembl chr12:242,714...255,305 		JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697 		JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chr10:722,105...737,857
Ensembl chr10:722,202...737,753 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chr 2:57,968,833...57,994,219
Ensembl chr 2:57,968,833...57,994,218 		JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00002 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156 		JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00002 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chr10:64,482,840...64,508,288
Ensembl chr10:64,483,060...64,505,747 		JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chr 1:109,150,205...109,161,375
Ensembl chr 1:109,150,205...109,161,141 		JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chr36:16,185,011...16,391,080
Ensembl chr36:16,185,649...16,483,016 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054 		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 chr 7:79,028,636...79,057,720 JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00538 NCBI chr37:18,028,244...18,073,975
Ensembl chr37:18,017,087...18,073,862 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00538 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00538 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00538 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00538 NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00538 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00538 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00538 NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00538 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00538 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00538 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00538 NCBI chr17:20,307,207...20,355,659
Ensembl chr17:20,307,226...20,355,508 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00538 NCBI chr17:20,355,778...20,399,869 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:121,545,690...121,564,117
Ensembl chr  X:121,545,586...121,563,186 		JBrowse link
G ABCD2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00517 NCBI chr27:14,015,093...14,084,362
Ensembl chr27:14,015,091...14,163,312 		JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00517 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809 		JBrowse link
G CRAT carnitine O-acetyltransferase ISO SMPDB SMP:00517 NCBI chr 9:54,566,708...54,580,301
Ensembl chr 9:54,566,407...54,580,025 		JBrowse link
G CROT carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chr14:13,475,130...13,532,536
Ensembl chr14:13,475,235...13,532,536 		JBrowse link
G PEX11G peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chr20:52,284,674...52,292,922
Ensembl chr20:52,282,762...52,292,888 		JBrowse link
G PEX13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chr10:61,113,213...61,130,157
Ensembl chr10:61,123,655...61,193,241 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00517 NCBI chr 2:85,224,376...85,362,684
Ensembl chr 2:85,224,365...85,389,069 		JBrowse link
G SLC25A20 solute carrier family 25 member 20 ISO SMPDB SMP:00517 NCBI chr20:40,244,222...40,271,100
Ensembl chr20:40,244,229...40,270,433 		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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00493 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00493 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283 		JBrowse link
G AOC3 amine oxidase copper containing 3 ISO SMPDB SMP:00493 NCBI chr 9:20,158,581...20,179,773
Ensembl chr 9:20,157,410...20,241,376 		JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO SMPDB SMP:00493 NCBI chr 1:4,875,790...4,912,148
Ensembl chr 1:4,876,794...4,911,976 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO SMPDB SMP:00493 NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923 		JBrowse link
G DPYS dihydropyrimidinase ISO SMPDB SMP:00493 NCBI chr13:5,583,795...5,659,355
Ensembl chr13:5,583,801...5,659,463 		JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00493 NCBI chr36:15,351,289...15,391,701
Ensembl chr36:15,349,683...15,391,824 		JBrowse link
G UPB1 beta-ureidopropionase 1 ISO SMPDB SMP:00493 NCBI chr26:28,194,968...28,225,977
Ensembl chr26:28,195,081...28,225,567 		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 chr20:32,110,788...32,141,751
Ensembl chr20:32,113,217...32,141,734 		JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00315 NCBI chr16:1,499,251...1,583,965 JBrowse link
G AMACR alpha-methylacyl-CoA racemase ISO SMPDB SMP:00315 NCBI chr 4:73,815,438...73,836,016
Ensembl chr 4:73,815,291...73,867,437 		JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase ISO SMPDB SMP:00315 NCBI chr11:58,102,057...58,116,750
Ensembl chr11:58,102,592...58,109,389 		JBrowse link
G CH25H cholesterol 25-hydroxylase ISO SMPDB SMP:00315 NCBI chr26:38,884,356...38,885,728 JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509 		JBrowse link
G CYP39A1 cytochrome P450 family 39 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr12:14,728,289...14,818,264
Ensembl chr12:14,729,063...14,867,888 		JBrowse link
G CYP46A1 cytochrome P450 family 46 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr 8:68,064,898...68,095,537
Ensembl chr 8:68,041,344...68,095,212 		JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr29:9,285,315...9,295,895
Ensembl chr29:9,286,181...9,332,310 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00315 NCBI chr29:14,443,036...14,613,839
Ensembl chr29:14,444,853...14,613,755 		JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00315 NCBI chr23:11,965,685...11,968,994
Ensembl chr23:11,967,341...11,968,846 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00315 NCBI chr11:8,717,182...8,810,716
Ensembl chr11:8,717,349...8,824,594 		JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00315 NCBI chr 6:17,220,006...17,223,985
Ensembl chr 6:17,219,574...17,223,114 		JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00315 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436 		JBrowse link
G SCP2 sterol carrier protein 2 ISO SMPDB SMP:00315 NCBI chr 5:55,860,053...55,971,657
Ensembl chr 5:55,860,549...55,964,014 		JBrowse link
G SLC27A5 solute carrier family 27 member 5 ISO SMPDB SMP:00315 NCBI chr 1:99,435,140...99,438,388 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 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327 		JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00508 NCBI chr14:17,746,654...17,767,019
Ensembl chr14:17,746,656...17,766,658 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00508 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921 		JBrowse link
G EBP cholestenol delta-isomerase ISO SMPDB SMP:00508 NCBI chr  X:41,774,857...41,779,474
Ensembl chr  X:41,762,692...41,779,476 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00508 NCBI chr25:26,060,031...26,093,515
Ensembl chr25:26,060,386...26,093,582 		JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00508 NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225 		JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00508 NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00508 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294 		JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00508 NCBI chr 4:66,633,706...66,654,005
Ensembl chr 4:66,633,572...66,652,196 		JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00508 NCBI chr38:19,975,935...19,999,077
Ensembl chr38:19,977,086...19,999,010 		JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00508 NCBI chr 2:33,927,759...33,930,651 JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00508 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436 		JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00508 NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042 		JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00508 NCBI chr15:61,293,769...61,307,285
Ensembl chr  X:8,144,335...8,145,216
Ensembl chr15:8,144,335...8,145,216 		JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00508 NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073 		JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00508 NCBI chr26:17,497,516...17,519,015
Ensembl chr26:17,497,513...17,519,385 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO SMPDB SMP:00508 NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143 		JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00508 NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625 		JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00508 NCBI chr 5:12,760,591...12,774,484
Ensembl chr 5:12,763,286...12,775,393 		JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00508 NCBI chr 7:20,481,386...20,556,706
Ensembl chr 7:20,486,069...20,546,055 		JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00508 NCBI chr13:22,994,010...23,018,134
Ensembl chr13:22,993,862...23,017,978 		JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00508 NCBI chr18:52,079,367...52,083,762
Ensembl chr18:52,079,425...52,085,390 		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 chr12:242,717...255,736
Ensembl chr12:242,714...255,305 		JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00001 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00001 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00001 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697 		JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00001 NCBI chr10:722,105...737,857
Ensembl chr10:722,202...737,753 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00001 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00001 NCBI chr 2:57,968,833...57,994,219
Ensembl chr 2:57,968,833...57,994,218 		JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00001 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156 		JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00001 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00001 NCBI chr10:64,482,840...64,508,288
Ensembl chr10:64,483,060...64,505,747 		JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00001 NCBI chr 1:109,150,205...109,161,375
Ensembl chr 1:109,150,205...109,161,141 		JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00001 NCBI chr36:16,185,011...16,391,080
Ensembl chr36:16,185,649...16,483,016 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00001 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054 		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 chr20:32,110,788...32,141,751
Ensembl chr20:32,113,217...32,141,734 		JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr16:1,499,251...1,583,965 JBrowse link
G AMACR alpha-methylacyl-CoA racemase ISO SMPDB SMP:00314 SMP:00318 NCBI chr 4:73,815,438...73,836,016
Ensembl chr 4:73,815,291...73,867,437 		JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase ISO SMPDB SMP:00314 SMP:00318 NCBI chr11:58,102,057...58,116,750
Ensembl chr11:58,102,592...58,109,389 		JBrowse link
G CH25H cholesterol 25-hydroxylase ISO SMPDB SMP:00314 SMP:00318 NCBI chr26:38,884,356...38,885,728 JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509 		JBrowse link
G CYP39A1 cytochrome P450 family 39 subfamily A member 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr12:14,728,289...14,818,264
Ensembl chr12:14,729,063...14,867,888 		JBrowse link
G CYP46A1 cytochrome P450 family 46 subfamily A member 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 8:68,064,898...68,095,537
Ensembl chr 8:68,041,344...68,095,212 		JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr29:9,285,315...9,295,895
Ensembl chr29:9,286,181...9,332,310 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr29:14,443,036...14,613,839
Ensembl chr29:14,444,853...14,613,755 		JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr23:11,965,685...11,968,994
Ensembl chr23:11,967,341...11,968,846 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00314 SMP:00318 NCBI chr11:8,717,182...8,810,716
Ensembl chr11:8,717,349...8,824,594 		JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 6:17,220,006...17,223,985
Ensembl chr 6:17,219,574...17,223,114 		JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00314 SMP:00318 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436 		JBrowse link
G SCP2 sterol carrier protein 2 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 5:55,860,053...55,971,657
Ensembl chr 5:55,860,549...55,964,014 		JBrowse link
G SLC27A5 solute carrier family 27 member 5 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 1:99,435,140...99,438,388 JBrowse link
congenital hemidysplasia with ichthyosiform erythroderma and limb defects pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00387 NCBI chr 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327 		JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00387 NCBI chr14:17,746,654...17,767,019
Ensembl chr14:17,746,656...17,766,658 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00387 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921 		JBrowse link
G EBP cholestenol delta-isomerase ISO SMPDB SMP:00387 NCBI chr  X:41,774,857...41,779,474
Ensembl chr  X:41,762,692...41,779,476 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00387 NCBI chr25:26,060,031...26,093,515
Ensembl chr25:26,060,386...26,093,582 		JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00387 NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225 		JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00387 NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00387 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294 		JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00387 NCBI chr 4:66,633,706...66,654,005
Ensembl chr 4:66,633,572...66,652,196 		JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00387 NCBI chr38:19,975,935...19,999,077
Ensembl chr38:19,977,086...19,999,010 		JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00387 NCBI chr 2:33,927,759...33,930,651 JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00387 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436 		JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00387 NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042 		JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00387 NCBI chr15:61,293,769...61,307,285
Ensembl chr  X:8,144,335...8,145,216
Ensembl chr15:8,144,335...8,145,216 		JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00387 NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073 		JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00387 NCBI chr26:17,497,516...17,519,015
Ensembl chr26:17,497,513...17,519,385 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO SMPDB SMP:00387 NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143 		JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00387 NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625 		JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00387 NCBI chr 5:12,760,591...12,774,484
Ensembl chr 5:12,763,286...12,775,393 		JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00387 NCBI chr 7:20,481,386...20,556,706
Ensembl chr 7:20,486,069...20,546,055 		JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00387 NCBI chr13:22,994,010...23,018,134
Ensembl chr13:22,993,862...23,017,978 		JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00387 NCBI chr18:52,079,367...52,083,762
Ensembl chr18:52,079,425...52,085,390 		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 6:50,039,661...50,112,543
Ensembl chr 6:50,041,947...50,112,279 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00557 NCBI chr31:5,742,744...6,010,881
Ensembl chr31:5,742,744...6,093,612 		JBrowse link
G GCK glucokinase ISO SMPDB SMP:00557
G GPI glucose-6-phosphate isomerase ISO SMPDB SMP:00557 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316 		JBrowse link
G GUSB glucuronidase beta ISO SMPDB SMP:00557 NCBI chr 6:730,345...743,916
Ensembl chr 6:730,358...779,424 		JBrowse link
G GYS2 glycogen synthase 2 ISO SMPDB SMP:00557 NCBI chr27:25,509,833...25,558,874
Ensembl chr27:25,509,655...25,558,844 		JBrowse link
G HK2 hexokinase 2 ISO SMPDB SMP:00557 NCBI chr17:48,287,367...48,329,470
Ensembl chr17:48,289,272...48,348,663 		JBrowse link
G MGAM maltase-glucoamylase ISO SMPDB SMP:00557 NCBI chr16:7,124,343...7,218,035
Ensembl chr16:7,125,114...7,260,241 		JBrowse link
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00557 NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622 		JBrowse link
G PGM2L1 phosphoglucomutase 2 like 1 ISO SMPDB SMP:00557 NCBI chr21:23,918,588...23,973,607
Ensembl chr21:23,918,918...23,968,306 		JBrowse link
G PYGL glycogen phosphorylase L ISO SMPDB SMP:00557 NCBI chr 8:27,264,778...27,307,977
Ensembl chr 8:27,223,273...27,307,977 		JBrowse link
G SI sucrase-isomaltase ISO SMPDB SMP:00557 NCBI chr34:30,284,869...30,373,749
Ensembl chr34:30,284,858...30,373,780 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00557 NCBI chr 3:72,935,532...72,964,151
Ensembl chr 3:72,839,920...72,963,208 		JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00557 NCBI chr10:63,532,366...63,598,362
Ensembl chr10:63,533,171...63,597,452 		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 chr31:37,230,900...37,247,170 JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00514 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451 		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 chr14:43,592,266...43,603,903
Ensembl chr14:43,578,721...43,605,720 		JBrowse link
G AQP2 aquaporin 2 ISO SMPDB SMP:00723 NCBI chr27:4,743,127...4,750,907
Ensembl chr27:4,743,127...4,750,907 		JBrowse link
G AQP3 aquaporin 3 ISO SMPDB SMP:00723 NCBI chr11:50,517,509...50,524,565 JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00723 NCBI chr17:53,828,482...53,847,043
Ensembl chr17:53,813,976...53,847,167 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00723 NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916 		JBrowse link
G ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 ISO SMPDB SMP:00723 NCBI chr38:22,023,176...22,080,656
Ensembl chr38:22,023,221...22,080,604 		JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00723 NCBI chr 7:29,464,132...29,487,124
Ensembl chr 7:29,464,132...29,487,947 		JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00723 NCBI chr 5:32,548,591...32,553,911
Ensembl chr 5:32,549,167...32,553,504 		JBrowse link
G ATP1B3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00723 NCBI chr23:37,684,507...37,727,535
Ensembl chr23:37,684,506...37,726,746 		JBrowse link
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00723 NCBI chr  X:92,347,443...92,368,206
Ensembl chr  X:92,347,684...92,365,341 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 ISO SMPDB SMP:00723 NCBI chr 5:15,812,335...15,824,552
Ensembl chr 5:15,815,969...15,823,057 		JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 ISO SMPDB SMP:00723 NCBI chr15:46,390,030...46,718,000
Ensembl chr15:46,390,023...46,710,131 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00723 NCBI chr27:38,612,206...38,638,212
Ensembl chr27:38,612,194...38,638,980 		JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00723 NCBI chr 6:22,439,643...22,481,349
Ensembl chr 6:22,439,643...22,481,349 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO SMPDB SMP:00723 NCBI chr 5:56,455,677...56,466,035
Ensembl chr 5:56,461,939...56,465,595 		JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00723 NCBI chr 6:22,566,568...22,593,479
Ensembl chr 6:22,567,711...22,593,503 		JBrowse link
G SLC12A1 solute carrier family 12 member 1 ISO SMPDB SMP:00723 NCBI chr30:14,458,373...14,548,870
Ensembl chr30:14,459,606...14,547,694 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 ISO SMPDB SMP:00723 NCBI chr 2:59,413,737...59,449,129
Ensembl chr 2:59,413,828...59,449,081 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO SMPDB SMP:00723 NCBI chr30:773,021...860,936
Ensembl chr30:773,933...858,487 		JBrowse link
G SLC14A2 solute carrier family 14 member 2 ISO SMPDB SMP:00723 NCBI chr 7:45,435,387...45,868,977
Ensembl chr 7:45,431,450...45,490,430 		JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO SMPDB SMP:00723 NCBI chr 1:92,898,274...92,978,260
Ensembl chr 1:92,898,274...92,978,260 		JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO SMPDB SMP:00723 NCBI chr 1:49,327,621...49,348,435
Ensembl chr 1:49,327,296...49,348,435 		JBrowse link
G SLC22A6 solute carrier family 22 member 6 ISO SMPDB SMP:00723 NCBI chr18:53,736,669...53,745,001
Ensembl chr18:53,736,959...53,744,396 		JBrowse link
G SLC38A4 solute carrier family 38 member 4 ISO SMPDB SMP:00723 NCBI chr27:7,685,955...7,756,222
Ensembl chr27:7,685,660...7,770,363 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO SMPDB SMP:00723 NCBI chr10:46,690,555...46,737,417
Ensembl chr10:46,685,137...46,737,147 		JBrowse link
G SLC3A2 solute carrier family 3 member 2 ISO SMPDB SMP:00723 NCBI chr18:53,810,468...53,819,021
Ensembl chr18:53,810,398...53,819,021 		JBrowse link
G SLC6A20 solute carrier family 6 member 20 ISO SMPDB SMP:00723 NCBI chr20:42,702,368...42,725,804
Ensembl chr20:42,702,379...42,724,658 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO SMPDB SMP:00723 NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858 		JBrowse link
G SLC7A6 solute carrier family 7 member 6 ISO SMPDB SMP:00723 NCBI chr 5:81,229,251...81,267,325
Ensembl chr 5:81,231,680...81,252,295 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO SMPDB SMP:00723 NCBI chr 8:3,132,735...3,209,259
Ensembl chr 8:3,133,139...3,165,832 		JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO SMPDB SMP:00723 NCBI chr 8:3,430,208...3,479,985
Ensembl chr 8:3,430,208...3,479,985 		JBrowse link
G SLC7A9 solute carrier family 7 member 9 ISO SMPDB SMP:00723 NCBI chr 1:119,205,833...119,229,054
Ensembl chr 1:119,205,833...119,229,054 		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 chr12:1,561,494...1,570,754
Ensembl chr12:1,558,684...1,568,962 		JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00529 NCBI chr14:2,991,888...3,006,941
Ensembl chr14:2,991,888...3,006,940 		JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00529 NCBI chr 5:40,466,237...40,474,272
Ensembl chr 5:40,466,237...40,474,457 		JBrowse link
G DGKA diacylglycerol kinase alpha ISO SMPDB SMP:00529 NCBI chr10:269,819...292,533
Ensembl chr10:270,998...292,352 		JBrowse link
G GK glycerol kinase ISO SMPDB SMP:00529 NCBI chr  X:25,748,060...25,834,462 JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00529 NCBI chr20:37,462,651...37,495,581
Ensembl chr20:37,462,659...37,465,807 		JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00529 NCBI chr28:23,261,673...23,323,985
Ensembl chr28:23,258,428...23,298,017 		JBrowse link
G GPD1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00529 NCBI chr27:4,614,878...4,622,013
Ensembl chr27:4,614,864...4,621,922 		JBrowse link
G GPD2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00529 NCBI chr36:2,678,749...2,780,173
Ensembl chr36:2,681,188...2,777,535 		JBrowse link
G LIPC lipase C, hepatic type ISO SMPDB SMP:00529 NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037 		JBrowse link
G LPL lipoprotein lipase ISO SMPDB SMP:00529 NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700 		JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00529 NCBI chr 2:42,761,712...42,854,515
Ensembl chr 2:42,763,026...42,854,802 		JBrowse link
G PLPP2 phospholipid phosphatase 2 ISO SMPDB SMP:00529 NCBI chr20:58,083,902...58,095,621
Ensembl chr20:58,087,289...58,095,421 		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 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327 		JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00386 NCBI chr14:17,746,654...17,767,019
Ensembl chr14:17,746,656...17,766,658 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00386 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921 		JBrowse link
G EBP cholestenol delta-isomerase ISO SMPDB SMP:00386 NCBI chr  X:41,774,857...41,779,474
Ensembl chr  X:41,762,692...41,779,476 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00386 NCBI chr25:26,060,031...26,093,515
Ensembl chr25:26,060,386...26,093,582 		JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00386 NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225 		JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00386 NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00386 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294 		JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00386 NCBI chr 4:66,633,706...66,654,005
Ensembl chr 4:66,633,572...66,652,196 		JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00386 NCBI chr38:19,975,935...19,999,077
Ensembl chr38:19,977,086...19,999,010 		JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00386 NCBI chr 2:33,927,759...33,930,651 JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00386 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436 		JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00386 NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042 		JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00386 NCBI chr15:61,293,769...61,307,285
Ensembl chr  X:8,144,335...8,145,216
Ensembl chr15:8,144,335...8,145,216 		JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00386 NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073 		JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00386 NCBI chr26:17,497,516...17,519,015
Ensembl chr26:17,497,513...17,519,385 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO SMPDB SMP:00386 NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143 		JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00386 NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625 		JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00386 NCBI chr 5:12,760,591...12,774,484
Ensembl chr 5:12,763,286...12,775,393 		JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00386 NCBI chr 7:20,481,386...20,556,706
Ensembl chr 7:20,486,069...20,546,055 		JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00386 NCBI chr13:22,994,010...23,018,134
Ensembl chr13:22,993,862...23,017,978 		JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00386 NCBI chr18:52,079,367...52,083,762
Ensembl chr18:52,079,425...52,085,390 		JBrowse link
dihydropyrimidinase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00178 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635 		JBrowse link
G CANT1 calcium activated nucleotidase 1 ISO SMPDB SMP:00178 NCBI chr 9:2,428,107...2,460,097 JBrowse link
G CDA cytidine deaminase ISO SMPDB SMP:00178 NCBI chr 2:78,305,328...78,327,229
Ensembl chr 2:78,304,726...78,327,247 		JBrowse link
G CMPK2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00178 NCBI chr17:4,466,615...4,478,546 JBrowse link
G CTPS1 CTP synthase 1 ISO SMPDB SMP:00178 NCBI chr15:2,067,767...2,093,014
Ensembl chr15:2,067,763...2,093,014 		JBrowse link
G DCTD dCMP deaminase ISO SMPDB SMP:00178 NCBI chr16:47,350,493...47,376,184
Ensembl chr16:47,350,357...47,375,127
Ensembl chr16:47,350,357...47,375,127 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00178 NCBI chr 5:77,756,411...77,766,207
Ensembl chr 5:77,756,407...77,774,090 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO SMPDB SMP:00178 NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923 		JBrowse link
G DPYS dihydropyrimidinase ISO SMPDB SMP:00178 NCBI chr13:5,583,795...5,659,355
Ensembl chr13:5,583,801...5,659,463 		JBrowse link
G DUT deoxyuridine triphosphatase ISO SMPDB SMP:00178 NCBI chr30:14,572,766...14,585,621
Ensembl chr30:14,572,602...14,585,530 		JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00178 NCBI chr 1:85,506,598...85,586,212
Ensembl chr 1:85,444,917...85,586,163 		JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00178 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163 		JBrowse link
G LOC480491 GTP:AMP phosphotransferase AK3, mitochondrial ISO SMPDB SMP:00178 NCBI chr 9:10,282,452...10,283,479 JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00178 NCBI chr20:40,769,394...40,778,802
Ensembl chr20:40,769,501...40,776,496 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00178 NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00178 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00178 NCBI chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934 		JBrowse link
G TK1 thymidine kinase 1 ISO SMPDB SMP:00178 NCBI chr 9:2,959,450...2,970,908
Ensembl chr 9:2,959,488...2,971,064 		JBrowse link
G TYMS thymidylate synthetase ISO SMPDB SMP:00178 NCBI chr 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747 		JBrowse link
G UCKL1 uridine-cytidine kinase 1 like 1 ISO SMPDB SMP:00178 NCBI chr24:47,412,520...47,423,222
Ensembl chr24:47,412,521...47,432,860 		JBrowse link
G UMPS uridine monophosphate synthetase ISO SMPDB SMP:00178 NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514 		JBrowse link
G UPB1 beta-ureidopropionase 1 ISO SMPDB SMP:00178 NCBI chr26:28,194,968...28,225,977
Ensembl chr26:28,195,081...28,225,567 		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 and serine--pyruvate aminotransferase ISO SMPDB SMP:00179 NCBI chr25:50,968,291...50,976,089 JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00179 NCBI chr20:37,552,813...37,566,417
Ensembl chr20:37,552,814...37,566,638 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00179 NCBI chr26:9,319,109...9,361,021 JBrowse link
G AMT aminomethyltransferase ISO SMPDB SMP:00179 NCBI chr20:39,815,449...39,820,907
Ensembl chr20:39,815,814...39,820,506 		JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00179 NCBI chr 3:27,732,381...27,752,168
Ensembl chr 3:27,734,108...27,752,046 		JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00179 NCBI chr31:37,230,900...37,247,170 JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00179 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00179 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G DMGDH dimethylglycine dehydrogenase ISO SMPDB SMP:00179 NCBI chr 3:27,789,089...27,857,348
Ensembl chr 3:27,790,324...27,856,601 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00179 NCBI chr20:57,440,698...57,442,588 JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00179 NCBI chr14:43,308,274...43,351,999
Ensembl chr14:43,308,152...43,396,487 		JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00179 NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214 		JBrowse link
G GCAT glycine C-acetyltransferase ISO SMPDB SMP:00179 NCBI chr10:26,821,121...26,827,496
Ensembl chr10:26,821,027...26,827,707 		JBrowse link
G GLDC glycine decarboxylase ISO SMPDB SMP:00179 NCBI chr11:27,491,639...27,584,450
Ensembl chr11:27,414,834...27,584,450 		JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00179 NCBI chr20:37,462,651...37,495,581
Ensembl chr20:37,462,659...37,465,807 		JBrowse link
G GNMT glycine N-methyltransferase ISO SMPDB SMP:00179 NCBI chr12:11,500,363...11,503,075
Ensembl chr12:11,500,392...11,503,481 		JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00179 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO SMPDB SMP:00179 NCBI chr17:56,806,912...56,833,765 JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00179 NCBI chr 1:80,376,469...80,408,177
Ensembl chr 1:80,377,115...80,408,162 		JBrowse link
G PSPH phosphoserine phosphatase ISO SMPDB SMP:00179 NCBI chr 6:493,152...546,176
Ensembl chr 6:493,176...512,089 		JBrowse link
G SARDH sarcosine dehydrogenase ISO SMPDB SMP:00179 NCBI chr 9:50,030,397...50,093,556
Ensembl chr 9:50,030,707...50,091,553 		JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00179 NCBI chr 6:42,584,792...42,605,201
Ensembl chr 6:42,584,798...42,605,136 		JBrowse link
G SDS serine dehydratase ISO SMPDB SMP:00179 NCBI chr26:10,725,123...10,728,087 JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00179 NCBI chr 5:41,221,531...41,248,653
Ensembl chr 5:41,221,562...41,253,166 		JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00179 NCBI chr10:1,357,347...1,362,511
Ensembl chr10:1,356,706...1,362,305 		JBrowse link
G SRR serine racemase ISO SMPDB SMP:00179
dimethylglycine dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate and serine--pyruvate aminotransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr25:50,968,291...50,976,089 JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr20:37,552,813...37,566,417
Ensembl chr20:37,552,814...37,566,638 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00242 SMP:00484 NCBI chr26:9,319,109...9,361,021 JBrowse link
G AMT aminomethyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr20:39,815,449...39,820,907
Ensembl chr20:39,815,814...39,820,506 		JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 3:27,732,381...27,752,168
Ensembl chr 3:27,734,108...27,752,046 		JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00242 SMP:00484 NCBI chr31:37,230,900...37,247,170 JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G DMGDH dimethylglycine dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 3:27,789,089...27,857,348
Ensembl chr 3:27,790,324...27,856,601 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr20:57,440,698...57,442,588 JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr14:43,308,274...43,351,999
Ensembl chr14:43,308,152...43,396,487 		JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214 		JBrowse link
G GCAT glycine C-acetyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr10:26,821,121...26,827,496
Ensembl chr10:26,821,027...26,827,707 		JBrowse link
G GLDC glycine decarboxylase ISO SMPDB SMP:00242 SMP:00484 NCBI chr11:27,491,639...27,584,450
Ensembl chr11:27,414,834...27,584,450 		JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00242 SMP:00484 NCBI chr20:37,462,651...37,495,581
Ensembl chr20:37,462,659...37,465,807 		JBrowse link
G GNMT glycine N-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr12:11,500,363...11,503,075
Ensembl chr12:11,500,392...11,503,481 		JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00242 SMP:00484 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr17:56,806,912...56,833,765 JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 1:80,376,469...80,408,177
Ensembl chr 1:80,377,115...80,408,162 		JBrowse link
G PSPH phosphoserine phosphatase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 6:493,152...546,176
Ensembl chr 6:493,176...512,089 		JBrowse link
G SARDH sarcosine dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 9:50,030,397...50,093,556
Ensembl chr 9:50,030,707...50,091,553 		JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 6:42,584,792...42,605,201
Ensembl chr 6:42,584,798...42,605,136 		JBrowse link
G SDS serine dehydratase ISO SMPDB SMP:00242 SMP:00484 NCBI chr26:10,725,123...10,728,087 JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 5:41,221,531...41,248,653
Ensembl chr 5:41,221,562...41,253,166 		JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00242 SMP:00484 NCBI chr10:1,357,347...1,362,511
Ensembl chr10:1,356,706...1,362,305 		JBrowse link
G SRR serine racemase ISO SMPDB SMP:00242 SMP:00484
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 chr11:67,736,643...67,752,399
Ensembl chr11:67,741,390...67,752,321 		JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00345 NCBI chr20:37,552,813...37,566,417
Ensembl chr20:37,552,814...37,566,638 		JBrowse link
G BLVRA biliverdin reductase A ISO SMPDB SMP:00345 NCBI chr18:6,424,833...6,506,399
Ensembl chr18:6,426,255...6,495,647 		JBrowse link
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO SMPDB SMP:00345 NCBI chr 5:37,853,495...37,982,228
Ensembl chr 5:37,852,875...37,982,243 		JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 ISO SMPDB SMP:00345 NCBI chr28:12,609,690...12,625,467
Ensembl chr28:12,610,401...12,624,087 		JBrowse link
G CPOX coproporphyrinogen oxidase ISO SMPDB SMP:00345 NCBI chr33:5,446,022...5,459,152
Ensembl chr33:5,447,414...5,459,461 		JBrowse link
G FECH ferrochelatase ISO SMPDB SMP:00345 NCBI chr 1:18,352,184...18,384,251
Ensembl chr 1:18,345,811...18,383,092 		JBrowse link
G GUSB glucuronidase beta ISO SMPDB SMP:00345 NCBI chr 6:730,345...743,916
Ensembl chr 6:730,358...779,424 		JBrowse link
G HMBS hydroxymethylbilane synthase ISO SMPDB SMP:00345 NCBI chr 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082 		JBrowse link
G HMOX1 heme oxygenase 1 ISO SMPDB SMP:00345 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
G LOC608550 ferritin heavy chain-like ISO SMPDB SMP:00345 NCBI chr11:11,512,268...11,513,672 JBrowse link
G PPOX protoporphyrinogen oxidase ISO SMPDB SMP:00345 NCBI chr38:21,306,973...21,310,892
Ensembl chr38:21,306,974...21,311,012 		JBrowse link
G UROD uroporphyrinogen decarboxylase ISO SMPDB SMP:00345 NCBI chr15:15,313,808...15,317,130
Ensembl chr15:15,312,674...15,320,010 		JBrowse link
G UROS uroporphyrinogen III synthase ISO SMPDB SMP:00345 NCBI chr28:34,952,074...34,983,532
Ensembl chr28:34,948,003...34,983,532 		JBrowse link
ethylmalonic encephalopathy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00181 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00181 NCBI chr37:18,028,244...18,073,975
Ensembl chr37:18,017,087...18,073,862 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00181 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00181 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00181 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00181 NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00181 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00181 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00181 NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00181 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00181 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00181 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00181 NCBI chr17:20,307,207...20,355,659
Ensembl chr17:20,307,226...20,355,508 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00181 NCBI chr17:20,355,778...20,399,869 JBrowse link
Fabry disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACER1 alkaline ceramidase 1 ISO SMPDB SMP:00525 NCBI chr20:53,819,224...53,838,183
Ensembl chr20:53,819,074...53,838,438 		JBrowse link
G ACER3 alkaline ceramidase 3 ISO SMPDB SMP:00525 NCBI chr21:21,711,315...21,863,409
Ensembl chr21:21,714,156...21,863,320 		JBrowse link
G ARSA arylsulfatase A ISO SMPDB SMP:00525 NCBI chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398 		JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00525 NCBI chr 7:57,849,872...57,917,289
Ensembl chr 7:57,849,884...57,914,360 		JBrowse link
G CERK ceramide kinase ISO SMPDB SMP:00525 NCBI chr10:19,560,125...19,601,223
Ensembl chr10:19,556,087...19,598,954 		JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00525 NCBI chr 8:68,461,461...68,483,685
Ensembl chr 8:68,462,555...68,533,062 		JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00525 NCBI chr 9:1,887,093...1,894,728
Ensembl chr 9:1,887,201...1,897,473 		JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00525 NCBI chr26:23,634,884...23,654,205
Ensembl chr26:23,637,844...23,646,219 		JBrowse link
G GALC galactosylceramidase ISO SMPDB SMP:00525 NCBI chr 8:59,266,693...59,324,825
Ensembl chr 8:59,267,818...59,324,967 		JBrowse link
G GBA1 glucosylceramidase beta 1 ISO SMPDB SMP:00525 NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864 		JBrowse link
G GLA galactosidase alpha ISO SMPDB SMP:00525 NCBI chr  X:75,311,536...75,320,391
Ensembl chr  X:75,311,536...75,320,249 		JBrowse link
G GLB1 galactosidase beta 1 ISO SMPDB SMP:00525 NCBI chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00525 NCBI chr 1:13,682,838...13,726,872
Ensembl chr 1:13,689,246...13,723,528 		JBrowse link
G NEU3 neuraminidase 3 ISO SMPDB SMP:00525 NCBI chr21:23,456,424...23,484,872 JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00525 NCBI chr 2:42,761,712...42,854,515
Ensembl chr 2:42,763,026...42,854,802 		JBrowse link
G SGMS1 sphingomyelin synthase 1 ISO SMPDB SMP:00525 NCBI chr26:37,243,388...37,472,806
Ensembl chr26:37,244,900...37,348,802 		JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00525 NCBI chr 4:21,666,264...21,717,476
Ensembl chr 4:21,660,939...21,715,155 		JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00525 NCBI chr37:28,536,815...28,639,380 JBrowse link
G SPHK2 sphingosine kinase 2 ISO SMPDB SMP:00525 NCBI chr 1:107,681,425...107,689,790
Ensembl chr 1:107,680,599...107,689,707 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00525 NCBI chr 1:94,997,240...95,062,424
Ensembl chr 1:94,997,290...95,064,468 		JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00525 NCBI chr 8:50,291,797...50,401,202
Ensembl chr 8:50,271,010...50,401,313 		JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00525 NCBI chr11:66,439,346...66,472,897
Ensembl chr11:66,439,346...66,472,897 		JBrowse link
G UGT8 UDP glycosyltransferase 8 ISO SMPDB SMP:00525 NCBI chr32:34,148,874...34,250,891
Ensembl chr32:34,179,247...34,233,116 		JBrowse link
familial hypercholanemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOX2 acyl-CoA oxidase 2 ISO SMPDB SMP:00317 NCBI chr20:32,110,788...32,141,751
Ensembl chr20:32,113,217...32,141,734 		JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00317 NCBI chr16:1,499,251...1,583,965 JBrowse link
G AMACR alpha-methylacyl-CoA racemase ISO SMPDB SMP:00317 NCBI chr 4:73,815,438...73,836,016
Ensembl chr 4:73,815,291...73,867,437 		JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase ISO SMPDB SMP:00317 NCBI chr11:58,102,057...58,116,750
Ensembl chr11:58,102,592...58,109,389 		JBrowse link
G CH25H cholesterol 25-hydroxylase ISO SMPDB SMP:00317 NCBI chr26:38,884,356...38,885,728 JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO SMPDB SMP:00317 NCBI chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509 		JBrowse link
G CYP39A1 cytochrome P450 family 39 subfamily A member 1 ISO SMPDB SMP:00317 NCBI chr12:14,728,289...14,818,264
Ensembl chr12:14,729,063...14,867,888 		JBrowse link
G CYP46A1 cytochrome P450 family 46 subfamily A member 1 ISO SMPDB SMP:00317 NCBI chr 8:68,064,898...68,095,537
Ensembl chr 8:68,041,344...68,095,212 		JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00317 NCBI chr29:9,285,315...9,295,895
Ensembl chr29:9,286,181...9,332,310 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00317 NCBI chr29:14,443,036...14,613,839
Ensembl chr29:14,444,853...14,613,755 		JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00317 NCBI chr23:11,965,685...11,968,994
Ensembl chr23:11,967,341...11,968,846 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00317 NCBI chr11:8,717,182...8,810,716
Ensembl chr11:8,717,349...8,824,594 		JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00317 NCBI chr 6:17,220,006...17,223,985
Ensembl chr 6:17,219,574...17,223,114 		JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00317 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436 		JBrowse link
G SCP2 sterol carrier protein 2 ISO SMPDB SMP:00317 NCBI chr 5:55,860,053...55,971,657
Ensembl chr 5:55,860,549...55,964,014 		JBrowse link
G SLC27A5 solute carrier family 27 member 5 ISO SMPDB SMP:00317 NCBI chr 1:99,435,140...99,438,388 JBrowse link
familial lipoprotein lipase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO SMPDB SMP:00530 NCBI chr12:1,561,494...1,570,754
Ensembl chr12:1,558,684...1,568,962 		JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00530 NCBI chr14:2,991,888...3,006,941
Ensembl chr14:2,991,888...3,006,940 		JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00530 NCBI chr 5:40,466,237...40,474,272
Ensembl chr 5:40,466,237...40,474,457 		JBrowse link
G DGKA diacylglycerol kinase alpha ISO SMPDB SMP:00530 NCBI chr10:269,819...292,533
Ensembl chr10:270,998...292,352 		JBrowse link
G GK glycerol kinase ISO SMPDB SMP:00530 NCBI chr  X:25,748,060...25,834,462 JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00530 NCBI chr20:37,462,651...37,495,581
Ensembl chr20:37,462,659...37,465,807 		JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00530 NCBI chr28:23,261,673...23,323,985
Ensembl chr28:23,258,428...23,298,017 		JBrowse link
G GPD1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00530 NCBI chr27:4,614,878...4,622,013
Ensembl chr27:4,614,864...4,621,922 		JBrowse link
G GPD2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00530 NCBI chr36:2,678,749...2,780,173
Ensembl chr36:2,681,188...2,777,535 		JBrowse link
G LIPC lipase C, hepatic type ISO SMPDB SMP:00530 NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037 		JBrowse link
G LPL lipoprotein lipase ISO SMPDB SMP:00530 NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700 		JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00530 NCBI chr 2:42,761,712...42,854,515
Ensembl chr 2:42,763,026...42,854,802 		JBrowse link
G PLPP2 phospholipid phosphatase 2 ISO SMPDB SMP:00530 NCBI chr20:58,083,902...58,095,621
Ensembl chr20:58,087,289...58,095,421 		JBrowse link
Fanconi syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BPGM bisphosphoglycerate mutase ISO SMPDB SMP:00572 NCBI chr16:13,386,021...13,418,248
Ensembl chr16:13,365,566...13,418,432 		JBrowse link
G ENO1 enolase 1 ISO SMPDB SMP:00572 NCBI chr 5:62,300,805...62,314,508
Ensembl chr 5:62,300,808...62,304,093 		JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00572 NCBI chr 9:20,132,973...20,143,642
Ensembl chr 9:20,132,978...20,143,642 		JBrowse link
G GALM galactose mutarotase ISO SMPDB SMP:00572 NCBI chr17:30,741,990...30,793,456
Ensembl chr17:30,742,127...30,792,465 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00572 NCBI chr27:38,468,889...38,472,653
Ensembl chr27:38,468,889...38,472,385 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO SMPDB SMP:00572 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316 		JBrowse link
G HK2 hexokinase 2 ISO SMPDB SMP:00572 NCBI chr17:48,287,367...48,329,470
Ensembl chr17:48,289,272...48,348,663 		JBrowse link
G LOC102157295 atherin ISO SMPDB SMP:00572 NCBI chr 6:18,069,839...18,077,265 JBrowse link
G PANK1 pantothenate kinase 1 ISO SMPDB SMP:00572 NCBI chr28:4,476,920...4,534,501 JBrowse link
G PFKM phosphofructokinase, muscle ISO SMPDB SMP:00572 NCBI chr27:6,620,300...6,640,649
Ensembl chr27:6,620,300...6,663,670 		JBrowse link
G PGAM1 phosphoglycerate mutase 1 ISO SMPDB SMP:00572 NCBI chr28:10,720,235...10,727,709
Ensembl chr28:10,720,094...10,930,286 		JBrowse link
G PGAM2 phosphoglycerate mutase 2 ISO SMPDB SMP:00572
G PKLR pyruvate kinase L/R ISO SMPDB SMP:00572 NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 ISO SMPDB SMP:00572 NCBI chr34:35,368,583...35,398,197
Ensembl chr34:35,370,192...35,400,409 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO SMPDB SMP:00572 NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137 		JBrowse link
french type sialuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMDHD2 amidohydrolase domain containing 2 ISO SMPDB SMP:00216 SMP:00217 NCBI chr 6:38,509,793...38,519,711 JBrowse link
G CMAS cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00216 SMP:00217 NCBI chr27:25,097,907...25,117,003
Ensembl chr27:25,098,091...25,116,965 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr10:68,067,817...68,125,001
Ensembl chr10:68,073,062...68,125,007 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00216 SMP:00217 NCBI chr11:52,688,295...52,731,160
Ensembl chr11:52,689,343...52,731,231 		JBrowse link
G GNPDA1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr 2:36,938,682...36,949,657
Ensembl chr 2:36,939,750...36,948,966 		JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr 8:28,992,173...29,005,511
Ensembl chr 8:28,993,227...29,005,435 		JBrowse link
G HEXA hexosaminidase subunit alpha ISO SMPDB SMP:00216 SMP:00217 NCBI chr30:35,836,788...35,862,525 JBrowse link
G HK1 hexokinase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr 4:20,396,761...20,516,889
Ensembl chr 4:20,421,526...20,518,211 		JBrowse link
G NAGK N-acetylglucosamine kinase ISO SMPDB SMP:00216 SMP:00217 NCBI chr17:51,367,477...51,376,461 JBrowse link
G NANP N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00216 SMP:00217 NCBI chr23:1,757,963...1,776,758 JBrowse link
G NANS N-acetylneuraminate synthase ISO SMPDB SMP:00216 SMP:00217 NCBI chr11:55,286,290...55,310,904
Ensembl chr11:55,243,854...55,350,194 		JBrowse link
G NPL N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 7:16,186,693...16,226,658
Ensembl chr 7:16,192,005...16,224,033 		JBrowse link
G PGM3 phosphoglucomutase 3 ISO SMPDB SMP:00216 SMP:00217 NCBI chr12:43,582,472...43,611,583
Ensembl chr12:43,584,940...43,611,777 		JBrowse link
G RENBP renin binding protein ISO SMPDB SMP:00216 SMP:00217 NCBI chr  X:121,782,411...121,788,928
Ensembl chr  X:121,727,573...121,788,860 		JBrowse link
G SLC17A5 solute carrier family 17 member 5 ISO SMPDB SMP:00216 SMP:00217 NCBI chr12:35,648,349...35,683,115
Ensembl chr12:35,649,376...35,683,534 		JBrowse link
G UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr38:20,190,026...20,228,353
Ensembl chr38:20,190,375...20,277,923 		JBrowse link
fructose-1,6-bisphosphatase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BPGM bisphosphoglycerate mutase ISO SMPDB SMP:00562 NCBI chr16:13,386,021...13,418,248
Ensembl chr16:13,365,566...13,418,432 		JBrowse link
G ENO1 enolase 1 ISO SMPDB SMP:00562 NCBI chr 5:62,300,805...62,314,508
Ensembl chr 5:62,300,808...62,304,093 		JBrowse link
G FBP1 fructose-bisphosphatase 1 ISO SMPDB SMP:00562 NCBI chr 1:72,099,886...72,125,266
Ensembl chr 1:72,099,881...72,125,224 		JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00562 NCBI chr 9:20,132,973...20,143,642
Ensembl chr 9:20,132,978...20,143,642 		JBrowse link
G GALM galactose mutarotase ISO SMPDB SMP:00562 NCBI chr17:30,741,990...30,793,456
Ensembl chr17:30,742,127...30,792,465 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00562 NCBI chr27:38,468,889...38,472,653
Ensembl chr27:38,468,889...38,472,385 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO SMPDB SMP:00562 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316 		JBrowse link
G HK2 hexokinase 2 ISO SMPDB SMP:00562 NCBI chr17:48,287,367...48,329,470
Ensembl chr17:48,289,272...48,348,663 		JBrowse link
G LOC102157295 atherin ISO SMPDB SMP:00562 NCBI chr 6:18,069,839...18,077,265 JBrowse link
G MDH2 malate dehydrogenase 2 ISO SMPDB SMP:00562 NCBI chr 6:7,389,266...7,405,311 JBrowse link
G MPC1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00562 NCBI chr 1:54,379,195...54,395,697 JBrowse link
G PANK1 pantothenate kinase 1 ISO SMPDB SMP:00562 NCBI chr28:4,476,920...4,534,501 JBrowse link
G PC pyruvate carboxylase ISO SMPDB SMP:00562 NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00562 NCBI chr24:42,538,858...42,544,200
Ensembl chr24:42,538,882...42,544,198 		JBrowse link
G PGAM1 phosphoglycerate mutase 1 ISO SMPDB SMP:00562 NCBI chr28:10,720,235...10,727,709
Ensembl chr28:10,720,094...10,930,286 		JBrowse link
G PGAM2 phosphoglycerate mutase 2 ISO SMPDB SMP:00562
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00562 NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622 		JBrowse link
G SLC25A11 solute carrier family 25 member 11 ISO SMPDB SMP:00562 NCBI chr 5:31,676,826...31,680,138
Ensembl chr 5:31,675,740...31,679,933 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 ISO SMPDB SMP:00562 NCBI chr34:35,368,583...35,398,197
Ensembl chr34:35,370,192...35,400,409 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO SMPDB SMP:00562 NCBI chr 5:14,823,485...14,830,007
Ensembl chr 5:14,823,499...14,830,004 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO SMPDB SMP:00562 NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137 		JBrowse link
fructosuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1B1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00561 NCBI chr14:2,991,888...3,006,941
Ensembl chr14:2,991,888...3,006,940 		JBrowse link
G ALDOB aldolase, fructose-bisphosphate B ISO SMPDB SMP:00561 NCBI chr11:58,150,621...58,166,266
Ensembl chr11:58,150,967...58,176,319 		JBrowse link
G FBP1 fructose-bisphosphatase 1 ISO SMPDB SMP:00561 NCBI chr 1:72,099,886...72,125,266
Ensembl chr 1:72,099,881...72,125,224 		JBrowse link
G FCSK fucose kinase ISO SMPDB SMP:00561 NCBI chr 5:76,442,597...76,463,165
Ensembl chr 5:76,443,411...76,462,771 		JBrowse link
G FPGT fucose-1-phosphate guanylyltransferase ISO SMPDB SMP:00561 NCBI chr 6:72,107,789...72,138,834
Ensembl chr 6:72,124,609...72,138,778 		JBrowse link
G GFUS GDP-L-fucose synthase ISO SMPDB SMP:00561 NCBI chr13:37,267,119...37,272,101
Ensembl chr13:37,267,122...37,271,967 		JBrowse link
G GMDS GDP-mannose 4,6-dehydratase ISO SMPDB SMP:00561 NCBI chr35:2,108,459...2,519,902
Ensembl chr35:2,151,528...2,519,513 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO SMPDB SMP:00561 NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045 		JBrowse link
G HK1 hexokinase 1 ISO SMPDB SMP:00561 NCBI chr 4:20,396,761...20,516,889
Ensembl chr 4:20,421,526...20,518,211 		JBrowse link
G KHK ketohexokinase ISO SMPDB SMP:00561 NCBI chr17:21,079,907...21,092,510
Ensembl chr17:21,079,907...21,092,510 		JBrowse link
G LOC102157295 atherin ISO SMPDB SMP:00561 NCBI chr 6:18,069,839...18,077,265 JBrowse link
G MPI mannose phosphate isomerase ISO SMPDB SMP:00561 NCBI chr30:37,933,091...37,940,945
Ensembl chr30:37,932,186...37,940,971 		JBrowse link
G PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO SMPDB SMP:00561 NCBI chr  X:46,617,522...46,691,375
Ensembl chr  X:46,613,847...46,691,038 		JBrowse link
G PFKL phosphofructokinase, liver type ISO SMPDB SMP:00561 NCBI chr31:38,153,638...38,178,741
Ensembl chr31:38,156,451...38,178,507 		JBrowse link
G PHPT1 phosphohistidine phosphatase 1 ISO SMPDB SMP:00561 NCBI chr 9:48,736,310...48,737,771
Ensembl chr 9:48,736,333...48,737,725 		JBrowse link
G PMM1 phosphomannomutase 1 ISO SMPDB SMP:00561 NCBI chr10:23,699,476...23,706,716
Ensembl chr10:23,700,387...23,706,547 		JBrowse link
G SORD sorbitol dehydrogenase ISO SMPDB SMP:00561 NCBI chr30:11,467,259...11,501,166
Ensembl chr30:11,467,253...11,500,641 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO SMPDB SMP:00561 NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137 		JBrowse link
fumaric aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACO2 aconitase 2 ISO SMPDB SMP:00547 NCBI chr10:23,742,284...23,798,580
Ensembl chr10:23,742,333...23,798,498 		JBrowse link
G CS citrate synthase ISO SMPDB SMP:00547 NCBI chr10:584,000...611,351
Ensembl chr10:584,904...611,436 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00547 NCBI chr 5:21,062,833...21,094,235
Ensembl chr 5:21,064,026...21,094,153 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00547 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00547 NCBI chr 8:48,003,730...48,025,001
Ensembl chr 8:48,002,211...48,024,999 		JBrowse link
G FH fumarate hydratase ISO SMPDB SMP:00547 NCBI chr 7:32,900,250...32,927,436
Ensembl chr 7:32,901,586...32,927,412 		JBrowse link
G IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO SMPDB SMP:00547 NCBI chr 3:58,301,982...58,318,925
Ensembl chr 3:58,302,001...58,318,248 		JBrowse link
G IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO SMPDB SMP:00547 NCBI chr24:18,556,437...18,561,399
Ensembl chr24:18,556,508...18,561,391 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO SMPDB SMP:00547 NCBI chr  X:121,599,368...121,608,707
Ensembl chr  X:121,599,368...121,608,643 		JBrowse link
G MDH2 malate dehydrogenase 2 ISO SMPDB SMP:00547 NCBI chr 6:7,389,266...7,405,311 JBrowse link
G MPC1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00547 NCBI chr 1:54,379,195...54,395,697 JBrowse link
G OGDH oxoglutarate dehydrogenase ISO SMPDB SMP:00547
G PC pyruvate carboxylase ISO SMPDB SMP:00547 NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00547 NCBI chr  X:15,338,364...15,354,011
Ensembl chr  X:15,338,202...15,387,458 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00547 NCBI chr20:32,185,420...32,191,592 JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO SMPDB SMP:00547 NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO SMPDB SMP:00547 NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO SMPDB SMP:00547 NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO SMPDB SMP:00547 NCBI chr 5:21,030,295...21,041,125 JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO SMPDB SMP:00547 NCBI chr17:40,392,969...40,424,875
Ensembl chr17:40,393,178...40,424,711 		JBrowse link
G SUCLG2 succinate-CoA ligase GDP-forming subunit beta ISO SMPDB SMP:00547 NCBI chr20:23,915,149...24,167,740
Ensembl chr20:23,895,802...24,182,869 		JBrowse link
GABA aminotransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00351 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00351 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00351 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283 		JBrowse link
G AOC3 amine oxidase copper containing 3 ISO SMPDB SMP:00351 NCBI chr 9:20,158,581...20,179,773
Ensembl chr 9:20,157,410...20,241,376 		JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO SMPDB SMP:00351 NCBI chr 1:4,875,790...4,912,148
Ensembl chr 1:4,876,794...4,911,976 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO SMPDB SMP:00351 NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923 		JBrowse link
G DPYS dihydropyrimidinase ISO SMPDB SMP:00351 NCBI chr13:5,583,795...5,659,355
Ensembl chr13:5,583,801...5,659,463 		JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00351 NCBI chr36:15,351,289...15,391,701
Ensembl chr36:15,349,683...15,391,824 		JBrowse link
G UPB1 beta-ureidopropionase 1 ISO SMPDB SMP:00351 NCBI chr26:28,194,968...28,225,977
Ensembl chr26:28,195,081...28,225,567 		JBrowse link
galactokinase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALE UDP-galactose-4-epimerase ISO SMPDB SMP:00495 NCBI chr 2:75,704,012...75,708,206
Ensembl chr 2:75,704,558...75,708,169 		JBrowse link
G GALK1 galactokinase 1 ISO SMPDB SMP:00495 NCBI chr 9:4,818,558...4,824,845
Ensembl chr 9:4,805,650...4,833,503 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00495 NCBI chr11:51,319,812...51,323,337
Ensembl chr11:51,319,347...51,334,802 		JBrowse link
G GCK glucokinase ISO SMPDB SMP:00495
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00495 NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00495 NCBI chr 3:72,935,532...72,964,151
Ensembl chr 3:72,839,920...72,963,208 		JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00495 NCBI chr10:63,532,366...63,598,362
Ensembl chr10:63,533,171...63,597,452 		JBrowse link
G UXS1 UDP-glucuronate decarboxylase 1 ISO SMPDB SMP:00495 NCBI chr10:37,342,675...37,407,725
Ensembl chr10:37,342,746...37,407,252 		JBrowse link
galactosemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1B1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00182 NCBI chr14:2,991,888...3,006,941
Ensembl chr14:2,991,888...3,006,940 		JBrowse link
G B4GALT1 beta-1,4-galactosyltransferase 1 ISO SMPDB SMP:00182 NCBI chr11:50,223,880...50,276,745
Ensembl chr11:50,226,242...50,276,730 		JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00182 NCBI chr 9:20,132,973...20,143,642
Ensembl chr 9:20,132,978...20,143,642 		JBrowse link
G GAA alpha glucosidase ISO SMPDB SMP:00182 NCBI chr 9:1,601,092...1,615,582
Ensembl chr 9:1,601,121...1,656,597 		JBrowse link
G GALE UDP-galactose-4-epimerase ISO SMPDB SMP:00182 NCBI chr 2:75,704,012...75,708,206
Ensembl chr 2:75,704,558...75,708,169 		JBrowse link
G GALK1 galactokinase 1 ISO SMPDB SMP:00182 NCBI chr 9:4,818,558...4,824,845
Ensembl chr 9:4,805,650...4,833,503 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00182 NCBI chr11:51,319,812...51,323,337
Ensembl chr11:51,319,347...51,334,802 		JBrowse link
G GCK glucokinase ISO SMPDB SMP:00182
G GLA galactosidase alpha ISO SMPDB SMP:00182 NCBI chr  X:75,311,536...75,320,391
Ensembl chr  X:75,311,536...75,320,249 		JBrowse link
G GLB1 galactosidase beta 1 ISO SMPDB SMP:00182 NCBI chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191 		JBrowse link
G HK1 hexokinase 1 ISO SMPDB SMP:00182 NCBI chr 4:20,396,761...20,516,889
Ensembl chr 4:20,421,526...20,518,211 		JBrowse link
G LCT lactase ISO SMPDB SMP:00182 NCBI chr19:38,571,539...38,620,567
Ensembl chr19:38,572,058...38,620,567 		JBrowse link
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00182 NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622 		JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00182 NCBI chr10:63,532,366...63,598,362
Ensembl chr10:63,533,171...63,597,452 		JBrowse link
GALE deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALE UDP-galactose-4-epimerase ISO SMPDB SMP:00496 NCBI chr 2:75,704,012...75,708,206
Ensembl chr 2:75,704,558...75,708,169 		JBrowse link
G GALK1 galactokinase 1 ISO SMPDB SMP:00496 NCBI chr 9:4,818,558...4,824,845
Ensembl chr 9:4,805,650...4,833,503 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00496 NCBI chr11:51,319,812...51,323,337
Ensembl chr11:51,319,347...51,334,802 		JBrowse link
G GCK glucokinase ISO SMPDB SMP:00496
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00496 NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00496 NCBI chr 3:72,935,532...72,964,151
Ensembl chr 3:72,839,920...72,963,208 		JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00496 NCBI chr10:63,532,366...63,598,362
Ensembl chr10:63,533,171...63,597,452 		JBrowse link
G UXS1 UDP-glucuronate decarboxylase 1 ISO SMPDB SMP:00496 NCBI chr10:37,342,675...37,407,725
Ensembl chr10:37,342,746...37,407,252 		JBrowse link
Gaucher's disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACER1 alkaline ceramidase 1 ISO SMPDB SMP:00349 NCBI chr20:53,819,224...53,838,183
Ensembl chr20:53,819,074...53,838,438 		JBrowse link
G ACER3 alkaline ceramidase 3 ISO SMPDB SMP:00349 NCBI chr21:21,711,315...21,863,409
Ensembl chr21:21,714,156...21,863,320 		JBrowse link
G ARSA arylsulfatase A ISO SMPDB SMP:00349 NCBI chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398 		JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00349 NCBI chr 7:57,849,872...57,917,289
Ensembl chr 7:57,849,884...57,914,360 		JBrowse link
G CERK ceramide kinase ISO SMPDB SMP:00349 NCBI chr10:19,560,125...19,601,223
Ensembl chr10:19,556,087...19,598,954 		JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00349 NCBI chr 8:68,461,461...68,483,685
Ensembl chr 8:68,462,555...68,533,062 		JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00349 NCBI chr 9:1,887,093...1,894,728
Ensembl chr 9:1,887,201...1,897,473 		JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00349 NCBI chr26:23,634,884...23,654,205
Ensembl chr26:23,637,844...23,646,219 		JBrowse link
G GALC galactosylceramidase ISO SMPDB SMP:00349 NCBI chr 8:59,266,693...59,324,825
Ensembl chr 8:59,267,818...59,324,967 		JBrowse link
G GBA1 glucosylceramidase beta 1 ISO SMPDB SMP:00349 NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864 		JBrowse link
G GLA galactosidase alpha ISO SMPDB SMP:00349 NCBI chr  X:75,311,536...75,320,391
Ensembl chr  X:75,311,536...75,320,249 		JBrowse link
G GLB1 galactosidase beta 1 ISO SMPDB SMP:00349 NCBI chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00349 NCBI chr 1:13,682,838...13,726,872
Ensembl chr 1:13,689,246...13,723,528 		JBrowse link
G NEU3 neuraminidase 3 ISO SMPDB SMP:00349 NCBI chr21:23,456,424...23,484,872 JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00349 NCBI chr 2:42,761,712...42,854,515
Ensembl chr 2:42,763,026...42,854,802 		JBrowse link
G SGMS1 sphingomyelin synthase 1 ISO SMPDB SMP:00349 NCBI chr26:37,243,388...37,472,806
Ensembl chr26:37,244,900...37,348,802 		JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00349 NCBI chr 4:21,666,264...21,717,476
Ensembl chr 4:21,660,939...21,715,155 		JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00349 NCBI chr37:28,536,815...28,639,380 JBrowse link
G SPHK2 sphingosine kinase 2 ISO SMPDB SMP:00349 NCBI chr 1:107,681,425...107,689,790
Ensembl chr 1:107,680,599...107,689,707 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00349 NCBI chr 1:94,997,240...95,062,424
Ensembl chr 1:94,997,290...95,064,468 		JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00349 NCBI chr 8:50,291,797...50,401,202
Ensembl chr 8:50,271,010...50,401,313 		JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00349 NCBI chr11:66,439,346...66,472,897
Ensembl chr11:66,439,346...66,472,897 		JBrowse link
G UGT8 UDP glycosyltransferase 8 ISO SMPDB SMP:00349 NCBI chr32:34,148,874...34,250,891
Ensembl chr32:34,179,247...34,233,116 		JBrowse link
Glut1 deficiency syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4GALT1 beta-1,4-galactosyltransferase 1 ISO SMPDB SMP:00580 NCBI chr11:50,223,880...50,276,745
Ensembl chr11:50,226,242...50,276,730 		JBrowse link
G CANT1 calcium activated nucleotidase 1 ISO SMPDB SMP:00580 NCBI chr 9:2,428,107...2,460,097 JBrowse link
G CMPK1 cytidine/uridine monophosphate kinase 1 ISO SMPDB SMP:00580 NCBI chr15:13,324,235...13,357,387
Ensembl chr15:13,326,185...13,358,152 		JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00580 NCBI chr 9:20,132,973...20,143,642
Ensembl chr 9:20,132,978...20,143,642 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00580 NCBI chr11:51,319,812...51,323,337
Ensembl chr11:51,319,347...51,334,802 		JBrowse link
G LALBA lactalbumin alpha ISO SMPDB SMP:00580 NCBI chr27:5,898,674...5,900,688
Ensembl chr27:5,874,879...5,900,686 		JBrowse link
G NME2 non-metastatic cells 2, protein (NM23B) expressed in ISO SMPDB SMP:00580 NCBI chr 9:27,002,114...27,005,740
Ensembl chr 9:27,001,733...27,015,934 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO SMPDB SMP:00580 NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140 		JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00580 NCBI chr10:63,532,366...63,598,362
Ensembl chr10:63,533,171...63,597,452 		JBrowse link
glutaric aciduria type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AADAT aminoadipate aminotransferase ISO SMPDB SMP:00186 NCBI chr25:20,920,118...20,944,251
Ensembl chr25:20,920,139...20,945,387 		JBrowse link
G AASS aminoadipate-semialdehyde synthase ISO SMPDB SMP:00186 NCBI chr14:59,950,123...59,993,457
Ensembl chr14:59,951,216...60,000,212 		JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00185 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00185 NCBI chr37:18,028,244...18,073,975
Ensembl chr37:18,017,087...18,073,862 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00185 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00185 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00185 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00185 NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00185 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970 		JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00186 NCBI chr11:15,828,581...15,878,556
Ensembl chr11:15,815,936...15,878,516 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00185 NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00185 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809 		JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00186 NCBI chr 2:24,298,323...24,349,848
Ensembl chr 2:24,299,789...24,349,899 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00186 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00186 NCBI chr 8:48,003,730...48,025,001
Ensembl chr 8:48,002,211...48,024,999 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00185 SMP:00186 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849 		JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00186 NCBI chr32:28,460,445...28,506,141
Ensembl chr32:28,460,193...28,531,280 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00185 NCBI chr17:20,307,207...20,355,659
Ensembl chr17:20,307,226...20,355,508 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00185 NCBI chr17:20,355,778...20,399,869 JBrowse link
G PIPOX pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00186 NCBI chr 9:43,200,343...43,212,288
Ensembl chr 9:43,200,371...43,212,288 		JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO SMPDB SMP:00186 NCBI chr 2:36,286,080...36,287,619
Ensembl chr 2:36,286,584...36,287,489 		JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO SMPDB SMP:00186 NCBI chr16:40,855,270...40,879,956
Ensembl chr16:40,745,458...40,875,106 		JBrowse link
glutathione synthase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANPEP alanyl aminopeptidase, membrane ISO SMPDB SMP:00143 SMP:00337 NCBI chr 3:52,764,418...52,779,516
Ensembl chr 3:52,764,418...52,779,746 		JBrowse link
G CASP7 caspase 7 ISO SMPDB SMP:00143 SMP:00337 NCBI chr28:24,599,866...24,630,018
Ensembl chr28:24,599,493...24,628,668 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00143 SMP:00337 NCBI chr12:20,999,815...21,047,779
Ensembl chr12:21,000,792...21,047,779 		JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00143 SMP:00337 NCBI chr 6:55,204,602...55,244,217 JBrowse link
G GGCT gamma-glutamylcyclotransferase ISO SMPDB SMP:00143 SMP:00337 NCBI chr14:43,244,220...43,252,930
Ensembl chr14:43,245,102...43,252,923 		JBrowse link
G GGT6 gamma-glutamyltransferase 6 ISO SMPDB SMP:00143 SMP:00337 NCBI chr 5:30,540,461...30,543,878
Ensembl chr 5:30,540,450...30,543,773 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO SMPDB SMP:00143 SMP:00337 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260 		JBrowse link
G GSR glutathione-disulfide reductase ISO SMPDB SMP:00143 SMP:00337 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752 		JBrowse link
G GSS glutathione synthetase ISO SMPDB SMP:00143 SMP:00337 NCBI chr24:23,973,807...24,000,281
Ensembl chr24:23,901,045...23,997,286 		JBrowse link
G GSTO2 glutathione S-transferase omega 2 ISO SMPDB SMP:00143 SMP:00337 NCBI chr28:16,580,250...16,604,977
Ensembl chr28:16,586,777...16,604,976 		JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing ISO SMPDB SMP:00143 SMP:00337 NCBI chr13:37,555,035...37,564,241
Ensembl chr13:37,555,045...37,564,810 		JBrowse link
glutathionuria disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANPEP alanyl aminopeptidase, membrane ISO SMPDB SMP:00501 NCBI chr 3:52,764,418...52,779,516
Ensembl chr 3:52,764,418...52,779,746 		JBrowse link
G CASP7 caspase 7 ISO SMPDB SMP:00501 NCBI chr28:24,599,866...24,630,018
Ensembl chr28:24,599,493...24,628,668 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00501 NCBI chr12:20,999,815...21,047,779
Ensembl chr12:21,000,792...21,047,779 		JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00501 NCBI chr 6:55,204,602...55,244,217 JBrowse link
G GGCT gamma-glutamylcyclotransferase ISO SMPDB SMP:00501 NCBI chr14:43,244,220...43,252,930
Ensembl chr14:43,245,102...43,252,923 		JBrowse link
G GGT6 gamma-glutamyltransferase 6 ISO SMPDB SMP:00501 NCBI chr 5:30,540,461...30,543,878
Ensembl chr 5:30,540,450...30,543,773 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO SMPDB SMP:00501 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260 		JBrowse link
G GSR glutathione-disulfide reductase ISO SMPDB SMP:00501 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752 		JBrowse link
G GSS glutathione synthetase ISO SMPDB SMP:00501 NCBI chr24:23,973,807...24,000,281
Ensembl chr24:23,901,045...23,997,286 		JBrowse link
G GSTO2 glutathione S-transferase omega 2 ISO SMPDB SMP:00501 NCBI chr28:16,580,250...16,604,977
Ensembl chr28:16,586,777...16,604,976 		JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing ISO SMPDB SMP:00501 NCBI chr13:37,555,035...37,564,241
Ensembl chr13:37,555,045...37,564,810 		JBrowse link
glycerol kinase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO SMPDB SMP:00187 NCBI chr12:1,561,494...1,570,754
Ensembl chr12:1,558,684...1,568,962 		JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00187 NCBI chr14:2,991,888...3,006,941
Ensembl chr14:2,991,888...3,006,940 		JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00187 NCBI chr 5:40,466,237...40,474,272
Ensembl chr 5:40,466,237...40,474,457 		JBrowse link
G DGKA diacylglycerol kinase alpha ISO SMPDB SMP:00187 NCBI chr10:269,819...292,533
Ensembl chr10:270,998...292,352 		JBrowse link
G GK glycerol kinase ISO SMPDB SMP:00187 NCBI chr  X:25,748,060...25,834,462 JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00187 NCBI chr20:37,462,651...37,495,581
Ensembl chr20:37,462,659...37,465,807 		JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00187 NCBI chr28:23,261,673...23,323,985
Ensembl chr28:23,258,428...23,298,017 		JBrowse link
G GPD1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00187 NCBI chr27:4,614,878...4,622,013
Ensembl chr27:4,614,864...4,621,922 		JBrowse link
G GPD2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00187 NCBI chr36:2,678,749...2,780,173
Ensembl chr36:2,681,188...2,777,535 		JBrowse link
G LIPC lipase C, hepatic type ISO SMPDB SMP:00187 NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037 		JBrowse link
G LPL lipoprotein lipase ISO SMPDB SMP:00187 NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700 		JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00187 NCBI chr 2:42,761,712...42,854,515
Ensembl chr 2:42,763,026...42,854,802 		JBrowse link
G PLPP2 phospholipid phosphatase 2 ISO SMPDB SMP:00187 NCBI chr20:58,083,902...58,095,621
Ensembl chr20:58,087,289...58,095,421 		JBrowse link
glycine N-methyltransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase ISO SMPDB SMP:00222 NCBI chr24:23,410,553...23,423,494
Ensembl chr24:23,411,140...23,419,767 		JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00222 NCBI chr12:67,432,871...67,453,791
Ensembl chr12:67,448,141...67,451,696 		JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00222 NCBI chr 3:27,732,381...27,752,168
Ensembl chr 3:27,734,108...27,752,046 		JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00222 NCBI chr31:37,230,900...37,247,170 JBrowse link
G CHDH choline dehydrogenase ISO SMPDB SMP:00222 NCBI chr20:36,150,214...36,188,976
Ensembl chr20:36,150,229...36,187,068 		JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00222 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO SMPDB SMP:00222 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029 		JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00222 NCBI chr 1:106,636,282...106,673,438
Ensembl chr 1:106,657,477...106,673,422 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00222 NCBI chr10:1,588,503...1,606,752
Ensembl chr10:1,588,875...1,606,750 		JBrowse link
G MAT2A methionine adenosyltransferase 2A ISO SMPDB SMP:00222 NCBI chr17:39,525,635...39,532,512
Ensembl chr17:39,525,626...39,532,512 		JBrowse link
G MAT2B methionine adenosyltransferase 2B ISO SMPDB SMP:00222 NCBI chr 4:47,703,991...47,726,363
Ensembl chr 4:47,709,576...47,726,360 		JBrowse link
G MSRB2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00222 NCBI chr 2:10,134,747...10,152,830
Ensembl chr 2:10,135,112...10,152,836 		JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00222 NCBI chr10:7,892,745...8,040,196
Ensembl chr10:7,892,640...8,038,043 		JBrowse link
G MTAP methylthioadenosine phosphorylase ISO SMPDB SMP:00222 NCBI chr11:41,148,389...41,200,635
Ensembl chr11:41,148,404...41,264,504 		JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00222 NCBI chr30:29,388,600...29,415,578
Ensembl chr30:29,388,649...29,450,430 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO SMPDB SMP:00222 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00222 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115 		JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00222 NCBI chr 5:41,221,531...41,248,653
Ensembl chr 5:41,221,562...41,253,166 		JBrowse link
G SRM spermidine synthase ISO SMPDB SMP:00222 NCBI chr 2:84,968,833...84,973,111
Ensembl chr 2:84,967,570...84,973,087 		JBrowse link
glycogen storage disease type Ia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BPGM bisphosphoglycerate mutase ISO SMPDB SMP:00374 SMP:00581 NCBI chr16:13,386,021...13,418,248
Ensembl chr16:13,365,566...13,418,432 		JBrowse link
G ENO1 enolase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 5:62,300,805...62,314,508
Ensembl chr 5:62,300,808...62,304,093 		JBrowse link
G FBP1 fructose-bisphosphatase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 1:72,099,886...72,125,266
Ensembl chr 1:72,099,881...72,125,224 		JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 9:20,132,973...20,143,642
Ensembl chr 9:20,132,978...20,143,642 		JBrowse link
G GALM galactose mutarotase ISO SMPDB SMP:00374 SMP:00581 NCBI chr17:30,741,990...30,793,456
Ensembl chr17:30,742,127...30,792,465 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00374 SMP:00581 NCBI chr27:38,468,889...38,472,653
Ensembl chr27:38,468,889...38,472,385 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO SMPDB SMP:00374 SMP:00581 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316 		JBrowse link
G HK2 hexokinase 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chr17:48,287,367...48,329,470
Ensembl chr17:48,289,272...48,348,663 		JBrowse link
G LOC102157295 atherin ISO SMPDB SMP:00374 SMP:00581 NCBI chr 6:18,069,839...18,077,265 JBrowse link
G MDH2 malate dehydrogenase 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 6:7,389,266...7,405,311 JBrowse link
G MPC1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 1:54,379,195...54,395,697 JBrowse link
G PANK1 pantothenate kinase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr28:4,476,920...4,534,501 JBrowse link
G PC pyruvate carboxylase ISO SMPDB SMP:00374 SMP:00581 NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr24:42,538,858...42,544,200
Ensembl chr24:42,538,882...42,544,198 		JBrowse link
G PGAM1 phosphoglycerate mutase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr28:10,720,235...10,727,709
Ensembl chr28:10,720,094...10,930,286 		JBrowse link
G PGAM2 phosphoglycerate mutase 2 ISO SMPDB SMP:00374 SMP:00581
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622 		JBrowse link
G SLC25A11 solute carrier family 25 member 11 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 5:31,676,826...31,680,138
Ensembl chr 5:31,675,740...31,679,933 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chr34:35,368,583...35,398,197
Ensembl chr34:35,370,192...35,400,409 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 5:14,823,485...14,830,007
Ensembl chr 5:14,823,499...14,830,004 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137 		JBrowse link
glycogen storage disease type Ib pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BPGM bisphosphoglycerate mutase ISO SMPDB SMP:00573 NCBI chr16:13,386,021...13,418,248
Ensembl chr16:13,365,566...13,418,432 		JBrowse link
G ENO1 enolase 1 ISO SMPDB SMP:00573 NCBI chr 5:62,300,805...62,314,508
Ensembl chr 5:62,300,808...62,304,093 		JBrowse link
G FBP1 fructose-bisphosphatase 1 ISO SMPDB SMP:00573 NCBI chr 1:72,099,886...72,125,266
Ensembl chr 1:72,099,881...72,125,224 		JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00573 NCBI chr 9:20,132,973...20,143,642
Ensembl chr 9:20,132,978...20,143,642 		JBrowse link
G GALM galactose mutarotase ISO SMPDB SMP:00573 NCBI chr17:30,741,990...30,793,456
Ensembl chr17:30,742,127...30,792,465 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00573 NCBI chr27:38,468,889...38,472,653
Ensembl chr27:38,468,889...38,472,385 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO SMPDB SMP:00573 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316 		JBrowse link
G HK2 hexokinase 2 ISO SMPDB SMP:00573 NCBI chr17:48,287,367...48,329,470
Ensembl chr17:48,289,272...48,348,663 		JBrowse link
G LOC102157295 atherin ISO SMPDB SMP:00573 NCBI chr 6:18,069,839...18,077,265 JBrowse link
G MDH2 malate dehydrogenase 2 ISO SMPDB SMP:00573 NCBI chr 6:7,389,266...7,405,311 JBrowse link
G MPC1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00573 NCBI chr 1:54,379,195...54,395,697 JBrowse link
G PANK1 pantothenate kinase 1 ISO SMPDB SMP:00573 NCBI chr28:4,476,920...4,534,501 JBrowse link
G PC pyruvate carboxylase ISO SMPDB SMP:00573 NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00573 NCBI chr24:42,538,858...42,544,200
Ensembl chr24:42,538,882...42,544,198 		JBrowse link
G PGAM1 phosphoglycerate mutase 1 ISO SMPDB SMP:00573 NCBI chr28:10,720,235...10,727,709
Ensembl chr28:10,720,094...10,930,286 		JBrowse link
G PGAM2 phosphoglycerate mutase 2 ISO SMPDB SMP:00573
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00573 NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622 		JBrowse link
G SLC25A11 solute carrier family 25 member 11 ISO SMPDB SMP:00573 NCBI chr 5:31,676,826...31,680,138
Ensembl chr 5:31,675,740...31,679,933 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 ISO SMPDB SMP:00573 NCBI chr34:35,368,583...35,398,197
Ensembl chr34:35,370,192...35,400,409 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO SMPDB SMP:00573 NCBI chr 5:14,823,485...14,830,007
Ensembl chr 5:14,823,499...14,830,004 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO SMPDB SMP:00573 NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137 		JBrowse link
glycogen storage disease type III pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO SMPDB SMP:00553 NCBI chr 6:50,039,661...50,112,543
Ensembl chr 6:50,041,947...50,112,279 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00553 NCBI chr31:5,742,744...6,010,881
Ensembl chr31:5,742,744...6,093,612 		JBrowse link
G GCK glucokinase ISO SMPDB SMP:00553
G GPI glucose-6-phosphate isomerase ISO SMPDB SMP:00553 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316 		JBrowse link
G GUSB glucuronidase beta ISO SMPDB SMP:00553 NCBI chr 6:730,345...743,916
Ensembl chr 6:730,358...779,424 		JBrowse link
G GYS2 glycogen synthase 2 ISO SMPDB SMP:00553 NCBI chr27:25,509,833...25,558,874
Ensembl chr27:25,509,655...25,558,844 		JBrowse link
G HK2 hexokinase 2 ISO SMPDB SMP:00553 NCBI chr17:48,287,367...48,329,470
Ensembl chr17:48,289,272...48,348,663 		JBrowse link
G MGAM maltase-glucoamylase ISO SMPDB SMP:00553 NCBI chr16:7,124,343...7,218,035
Ensembl chr16:7,125,114...7,260,241 		JBrowse link
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00553 NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622 		JBrowse link
G PGM2L1 phosphoglucomutase 2 like 1 ISO SMPDB SMP:00553 NCBI chr21:23,918,588...23,973,607
Ensembl chr21:23,918,918...23,968,306 		JBrowse link
G PYGL glycogen phosphorylase L ISO SMPDB SMP:00553 NCBI chr 8:27,264,778...27,307,977
Ensembl chr 8:27,223,273...27,307,977 		JBrowse link
G SI sucrase-isomaltase ISO SMPDB SMP:00553 NCBI chr34:30,284,869...30,373,749
Ensembl chr34:30,284,858...30,373,780 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00553 NCBI chr 3:72,935,532...72,964,151
Ensembl chr 3:72,839,920...72,963,208 		JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00553 NCBI chr10:63,532,366...63,598,362
Ensembl chr10:63,533,171...63,597,452 		JBrowse link
glycogen storage disease type IV pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO SMPDB SMP:00554 NCBI chr 6:50,039,661...50,112,543
Ensembl chr 6:50,041,947...50,112,279 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00554 NCBI chr31:5,742,744...6,010,881
Ensembl chr31:5,742,744...6,093,612 		JBrowse link
G GCK glucokinase ISO SMPDB SMP:00554
G GPI glucose-6-phosphate isomerase ISO SMPDB SMP:00554 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316 		JBrowse link
G GUSB glucuronidase beta ISO SMPDB SMP:00554 NCBI chr 6:730,345...743,916
Ensembl chr 6:730,358...779,424 		JBrowse link
G GYS2 glycogen synthase 2 ISO SMPDB SMP:00554 NCBI chr27:25,509,833...25,558,874
Ensembl chr27:25,509,655...25,558,844 		JBrowse link
G HK2 hexokinase 2 ISO SMPDB SMP:00554 NCBI chr17:48,287,367...48,329,470
Ensembl chr17:48,289,272...48,348,663 		JBrowse link
G MGAM maltase-glucoamylase ISO SMPDB SMP:00554 NCBI chr16:7,124,343...7,218,035
Ensembl chr16:7,125,114...7,260,241 		JBrowse link
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00554 NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622 		JBrowse link
G PGM2L1 phosphoglucomutase 2 like 1 ISO SMPDB SMP:00554 NCBI chr21:23,918,588...23,973,607
Ensembl chr21:23,918,918...23,968,306 		JBrowse link
G PYGL glycogen phosphorylase L ISO SMPDB SMP:00554 NCBI chr 8:27,264,778...27,307,977
Ensembl chr 8:27,223,273...27,307,977 		JBrowse link
G SI sucrase-isomaltase ISO SMPDB SMP:00554 NCBI chr34:30,284,869...30,373,749
Ensembl chr34:30,284,858...30,373,780 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00554 NCBI chr 3:72,935,532...72,964,151
Ensembl chr 3:72,839,920...72,963,208 		JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00554 NCBI chr10:63,532,366...63,598,362
Ensembl chr10:63,533,171...63,597,452 		JBrowse link
glycogen storage disease type VI pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO SMPDB SMP:00555 NCBI chr 6:50,039,661...50,112,543
Ensembl chr 6:50,041,947...50,112,279 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00555 NCBI chr31:5,742,744...6,010,881
Ensembl chr31:5,742,744...6,093,612 		JBrowse link
G GCK glucokinase ISO SMPDB SMP:00555
G GPI glucose-6-phosphate isomerase ISO SMPDB SMP:00555 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316 		JBrowse link
G GUSB glucuronidase beta ISO SMPDB SMP:00555 NCBI chr 6:730,345...743,916
Ensembl chr 6:730,358...779,424 		JBrowse link
G GYS2 glycogen synthase 2 ISO SMPDB SMP:00555 NCBI chr27:25,509,833...25,558,874
Ensembl chr27:25,509,655...25,558,844 		JBrowse link
G HK2 hexokinase 2 ISO SMPDB SMP:00555 NCBI chr17:48,287,367...48,329,470
Ensembl chr17:48,289,272...48,348,663 		JBrowse link
G MGAM maltase-glucoamylase ISO SMPDB SMP:00555 NCBI chr16:7,124,343...7,218,035
Ensembl chr16:7,125,114...7,260,241 		JBrowse link
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00555 NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622 		JBrowse link
G PGM2L1 phosphoglucomutase 2 like 1 ISO SMPDB SMP:00555 NCBI chr21:23,918,588...23,973,607
Ensembl chr21:23,918,918...23,968,306 		JBrowse link
G PYGL glycogen phosphorylase L ISO SMPDB SMP:00555 NCBI chr 8:27,264,778...27,307,977
Ensembl chr 8:27,223,273...27,307,977 		JBrowse link
G SI sucrase-isomaltase ISO SMPDB SMP:00555 NCBI chr34:30,284,869...30,373,749
Ensembl chr34:30,284,858...30,373,780 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00555 NCBI chr 3:72,935,532...72,964,151
Ensembl chr 3:72,839,920...72,963,208 		JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00555 NCBI chr10:63,532,366...63,598,362
Ensembl chr10:63,533,171...63,597,452 		JBrowse link
glycogen storage disease type VII pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BPGM bisphosphoglycerate mutase ISO SMPDB SMP:00531 NCBI chr16:13,386,021...13,418,248
Ensembl chr16:13,365,566...13,418,432 		JBrowse link
G ENO1 enolase 1 ISO SMPDB SMP:00531 NCBI chr 5:62,300,805...62,314,508
Ensembl chr 5:62,300,808...62,304,093 		JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00531 NCBI chr 9:20,132,973...20,143,642
Ensembl chr 9:20,132,978...20,143,642 		JBrowse link
G GALM galactose mutarotase ISO SMPDB SMP:00531 NCBI chr17:30,741,990...30,793,456
Ensembl chr17:30,742,127...30,792,465 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00531 NCBI chr27:38,468,889...38,472,653
Ensembl chr27:38,468,889...38,472,385 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO SMPDB SMP:00531 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316 		JBrowse link
G HK2 hexokinase 2 ISO SMPDB SMP:00531 NCBI chr17:48,287,367...48,329,470
Ensembl chr17:48,289,272...48,348,663 		JBrowse link
G LOC102157295 atherin ISO SMPDB SMP:00531 NCBI chr 6:18,069,839...18,077,265 JBrowse link
G PANK1 pantothenate kinase 1 ISO SMPDB SMP:00531 NCBI chr28:4,476,920...4,534,501 JBrowse link
G PFKM phosphofructokinase, muscle ISO SMPDB SMP:00531 NCBI chr27:6,620,300...6,640,649
Ensembl chr27:6,620,300...6,663,670 		JBrowse link
G PGAM1 phosphoglycerate mutase 1 ISO SMPDB SMP:00531 NCBI chr28:10,720,235...10,727,709
Ensembl chr28:10,720,094...10,930,286 		JBrowse link
G PGAM2 phosphoglycerate mutase 2 ISO SMPDB SMP:00531
G PKLR pyruvate kinase L/R ISO SMPDB SMP:00531 NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 ISO SMPDB SMP:00531 NCBI chr34:35,368,583...35,398,197
Ensembl chr34:35,370,192...35,400,409 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO SMPDB SMP:00531 NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137 		JBrowse link
Hartnup disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP1 aquaporin 1 ISO SMPDB SMP:00189 NCBI chr14:43,592,266...43,603,903
Ensembl chr14:43,578,721...43,605,720 		JBrowse link
G AQP2 aquaporin 2 ISO SMPDB SMP:00189 NCBI chr27:4,743,127...4,750,907
Ensembl chr27:4,743,127...4,750,907 		JBrowse link
G AQP3 aquaporin 3 ISO SMPDB SMP:00189 NCBI chr11:50,517,509...50,524,565 JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00189 NCBI chr17:53,828,482...53,847,043
Ensembl chr17:53,813,976...53,847,167 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00189 NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916 		JBrowse link
G ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 ISO SMPDB SMP:00189 NCBI chr38:22,023,176...22,080,656
Ensembl chr38:22,023,221...22,080,604 		JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00189 NCBI chr 7:29,464,132...29,487,124
Ensembl chr 7:29,464,132...29,487,947 		JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00189 NCBI chr 5:32,548,591...32,553,911
Ensembl chr 5:32,549,167...32,553,504 		JBrowse link
G ATP1B3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00189 NCBI chr23:37,684,507...37,727,535
Ensembl chr23:37,684,506...37,726,746 		JBrowse link
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00189 NCBI chr  X:92,347,443...92,368,206
Ensembl chr  X:92,347,684...92,365,341 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 ISO SMPDB SMP:00189 NCBI chr 5:15,812,335...15,824,552
Ensembl chr 5:15,815,969...15,823,057 		JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 ISO SMPDB SMP:00189 NCBI chr15:46,390,030...46,718,000
Ensembl chr15:46,390,023...46,710,131 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00189 NCBI chr27:38,612,206...38,638,212
Ensembl chr27:38,612,194...38,638,980 		JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00189 NCBI chr 6:22,439,643...22,481,349
Ensembl chr 6:22,439,643...22,481,349 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO SMPDB SMP:00189 NCBI chr 5:56,455,677...56,466,035
Ensembl chr 5:56,461,939...56,465,595 		JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00189 NCBI chr 6:22,566,568...22,593,479
Ensembl chr 6:22,567,711...22,593,503 		JBrowse link
G SLC12A1 solute carrier family 12 member 1 ISO SMPDB SMP:00189 NCBI chr30:14,458,373...14,548,870
Ensembl chr30:14,459,606...14,547,694 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 ISO SMPDB SMP:00189 NCBI chr 2:59,413,737...59,449,129
Ensembl chr 2:59,413,828...59,449,081 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO SMPDB SMP:00189 NCBI chr30:773,021...860,936
Ensembl chr30:773,933...858,487 		JBrowse link
G SLC14A2 solute carrier family 14 member 2 ISO SMPDB SMP:00189 NCBI chr 7:45,435,387...45,868,977
Ensembl chr 7:45,431,450...45,490,430 		JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO SMPDB SMP:00189 NCBI chr 1:92,898,274...92,978,260
Ensembl chr 1:92,898,274...92,978,260 		JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO SMPDB SMP:00189 NCBI chr 1:49,327,621...49,348,435
Ensembl chr 1:49,327,296...49,348,435 		JBrowse link
G SLC22A6 solute carrier family 22 member 6 ISO SMPDB SMP:00189 NCBI chr18:53,736,669...53,745,001
Ensembl chr18:53,736,959...53,744,396 		JBrowse link
G SLC38A4 solute carrier family 38 member 4 ISO SMPDB SMP:00189 NCBI chr27:7,685,955...7,756,222
Ensembl chr27:7,685,660...7,770,363 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO SMPDB SMP:00189 NCBI chr10:46,690,555...46,737,417
Ensembl chr10:46,685,137...46,737,147 		JBrowse link
G SLC3A2 solute carrier family 3 member 2 ISO SMPDB SMP:00189 NCBI chr18:53,810,468...53,819,021
Ensembl chr18:53,810,398...53,819,021 		JBrowse link
G SLC6A20 solute carrier family 6 member 20 ISO SMPDB SMP:00189 NCBI chr20:42,702,368...42,725,804
Ensembl chr20:42,702,379...42,724,658 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO SMPDB SMP:00189 NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858 		JBrowse link
G SLC7A6 solute carrier family 7 member 6 ISO SMPDB SMP:00189 NCBI chr 5:81,229,251...81,267,325
Ensembl chr 5:81,231,680...81,252,295 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO SMPDB SMP:00189 NCBI chr 8:3,132,735...3,209,259
Ensembl chr 8:3,133,139...3,165,832 		JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO SMPDB SMP:00189 NCBI chr 8:3,430,208...3,479,985
Ensembl chr 8:3,430,208...3,479,985 		JBrowse link
G SLC7A9 solute carrier family 7 member 9 ISO SMPDB SMP:00189 NCBI chr 1:119,205,833...119,229,054
Ensembl chr 1:119,205,833...119,229,054 		JBrowse link
hawkinsinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00190 NCBI chr 5:40,466,237...40,474,272
Ensembl chr 5:40,466,237...40,474,457 		JBrowse link
G AOC1 amine oxidase copper containing 1 ISO SMPDB SMP:00190 NCBI chr16:14,955,528...14,963,283
Ensembl chr16:14,958,658...15,036,651 		JBrowse link
G COMT catechol-O-methyltransferase ISO SMPDB SMP:00190 NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008 		JBrowse link
G DBH dopamine beta-hydroxylase ISO SMPDB SMP:00190 NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130 		JBrowse link
G DCT dopachrome tautomerase ISO SMPDB SMP:00190 NCBI chr22:45,271,709...45,305,272
Ensembl chr22:45,271,709...45,305,346 		JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00190 NCBI chr18:1,802,239...1,876,714
Ensembl chr18:1,803,273...1,867,616 		JBrowse link
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00190 NCBI chr 3:57,300,422...57,326,546
Ensembl chr 3:57,300,441...57,326,486 		JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00190 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579 		JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00190 NCBI chr 8:50,133,496...50,143,487
Ensembl chr 8:50,133,714...50,143,439 		JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00190 NCBI chr10:45,368,157...45,379,521
Ensembl chr10:45,368,178...45,379,160 		JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00190 NCBI chr33:24,066,099...24,107,827
Ensembl chr33:24,066,306...24,151,354 		JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00190 NCBI chr26:7,430,891...7,440,643
Ensembl chr26:7,430,933...7,440,611 		JBrowse link
G LOC100856533 alcohol dehydrogenase E chain ISO SMPDB SMP:00190 NCBI chr32:21,422,428...21,437,058 JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00190 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757 		JBrowse link
G MIF macrophage migration inhibitory factor ISO SMPDB SMP:00190
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00190 NCBI chr 9:22,808,505...22,810,587
Ensembl chr 9:22,808,601...22,810,551 		JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00190 NCBI chr 5:77,365,589...77,378,474
Ensembl chr 5:77,366,138...77,378,419 		JBrowse link
G TYR tyrosinase ISO SMPDB SMP:00190 NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
hereditary coproporphyria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAD aminolevulinate dehydratase ISO SMPDB SMP:00342 NCBI chr11:67,736,643...67,752,399
Ensembl chr11:67,741,390...67,752,321 		JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00342 NCBI chr20:37,552,813...37,566,417
Ensembl chr20:37,552,814...37,566,638 		JBrowse link
G BLVRA biliverdin reductase A ISO SMPDB SMP:00342 NCBI chr18:6,424,833...6,506,399
Ensembl chr18:6,426,255...6,495,647 		JBrowse link
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO SMPDB SMP:00342 NCBI chr 5:37,853,495...37,982,228
Ensembl chr 5:37,852,875...37,982,243 		JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 ISO SMPDB SMP:00342 NCBI chr28:12,609,690...12,625,467
Ensembl chr28:12,610,401...12,624,087 		JBrowse link
G CPOX coproporphyrinogen oxidase ISO SMPDB SMP:00342 NCBI chr33:5,446,022...5,459,152
Ensembl chr33:5,447,414...5,459,461 		JBrowse link
G FECH ferrochelatase ISO SMPDB SMP:00342 NCBI chr 1:18,352,184...18,384,251
Ensembl chr 1:18,345,811...18,383,092 		JBrowse link
G GUSB glucuronidase beta ISO SMPDB SMP:00342 NCBI chr 6:730,345...743,916
Ensembl chr 6:730,358...779,424 		JBrowse link
G HMBS hydroxymethylbilane synthase ISO SMPDB SMP:00342 NCBI chr 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082 		JBrowse link
G HMOX1 heme oxygenase 1 ISO SMPDB SMP:00342 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
G LOC608550 ferritin heavy chain-like ISO SMPDB SMP:00342 NCBI chr11:11,512,268...11,513,672 JBrowse link
G PPOX protoporphyrinogen oxidase ISO SMPDB SMP:00342 NCBI chr38:21,306,973...21,310,892
Ensembl chr38:21,306,974...21,311,012 		JBrowse link
G UROD uroporphyrinogen decarboxylase ISO SMPDB SMP:00342 NCBI chr15:15,313,808...15,317,130
Ensembl chr15:15,312,674...15,320,010 		JBrowse link
G UROS uroporphyrinogen III synthase ISO SMPDB SMP:00342 NCBI chr28:34,952,074...34,983,532
Ensembl chr28:34,948,003...34,983,532 		JBrowse link
hereditary fructose intolerance syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1B1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00725 NCBI chr14:2,991,888...3,006,941
Ensembl chr14:2,991,888...3,006,940 		JBrowse link
G ALDOB aldolase, fructose-bisphosphate B ISO SMPDB SMP:00725 NCBI chr11:58,150,621...58,166,266
Ensembl chr11:58,150,967...58,176,319 		JBrowse link
G FBP1 fructose-bisphosphatase 1 ISO SMPDB SMP:00725 NCBI chr 1:72,099,886...72,125,266
Ensembl chr 1:72,099,881...72,125,224 		JBrowse link
G FCSK fucose kinase ISO SMPDB SMP:00725 NCBI chr 5:76,442,597...76,463,165
Ensembl chr 5:76,443,411...76,462,771 		JBrowse link
G FPGT fucose-1-phosphate guanylyltransferase ISO SMPDB SMP:00725 NCBI chr 6:72,107,789...72,138,834
Ensembl chr 6:72,124,609...72,138,778 		JBrowse link
G GFUS GDP-L-fucose synthase ISO SMPDB SMP:00725 NCBI chr13:37,267,119...37,272,101
Ensembl chr13:37,267,122...37,271,967 		JBrowse link
G GMDS GDP-mannose 4,6-dehydratase ISO SMPDB SMP:00725 NCBI chr35:2,108,459...2,519,902
Ensembl chr35:2,151,528...2,519,513 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO SMPDB SMP:00725 NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045 		JBrowse link
G HK1 hexokinase 1 ISO SMPDB SMP:00725 NCBI chr 4:20,396,761...20,516,889
Ensembl chr 4:20,421,526...20,518,211 		JBrowse link
G KHK ketohexokinase ISO SMPDB SMP:00725 NCBI chr17:21,079,907...21,092,510
Ensembl chr17:21,079,907...21,092,510 		JBrowse link
G LOC102157295 atherin ISO SMPDB SMP:00725 NCBI chr 6:18,069,839...18,077,265 JBrowse link
G MPI mannose phosphate isomerase ISO SMPDB SMP:00725 NCBI chr30:37,933,091...37,940,945
Ensembl chr30:37,932,186...37,940,971 		JBrowse link
G PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO SMPDB SMP:00725 NCBI chr  X:46,617,522...46,691,375
Ensembl chr  X:46,613,847...46,691,038 		JBrowse link
G PFKL phosphofructokinase, liver type ISO SMPDB SMP:00725 NCBI chr31:38,153,638...38,178,741
Ensembl chr31:38,156,451...38,178,507 		JBrowse link
G PHPT1 phosphohistidine phosphatase 1 ISO SMPDB SMP:00725 NCBI chr 9:48,736,310...48,737,771
Ensembl chr 9:48,736,333...48,737,725 		JBrowse link
G PMM1 phosphomannomutase 1 ISO SMPDB SMP:00725 NCBI chr10:23,699,476...23,706,716
Ensembl chr10:23,700,387...23,706,547 		JBrowse link
G SORD sorbitol dehydrogenase ISO SMPDB SMP:00725 NCBI chr30:11,467,259...11,501,166
Ensembl chr30:11,467,253...11,500,641 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO SMPDB SMP:00725 NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137 		JBrowse link
histidinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00191 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00191 NCBI chr 5:40,466,237...40,474,272
Ensembl chr 5:40,466,237...40,474,457 		JBrowse link
G AMDHD1 amidohydrolase domain containing 1 ISO SMPDB SMP:00191 NCBI chr15:35,741,190...35,761,848
Ensembl chr15:35,692,161...35,760,978 		JBrowse link
G AOC1 amine oxidase copper containing 1 ISO SMPDB SMP:00191 NCBI chr16:14,955,528...14,963,283
Ensembl chr16:14,958,658...15,036,651 		JBrowse link
G CARNMT1 carnosine N-methyltransferase 1 ISO SMPDB SMP:00191 NCBI chr 1:83,188,622...83,229,942
Ensembl chr 1:83,188,747...83,227,488 		JBrowse link
G CARNS1 carnosine synthase 1 ISO SMPDB SMP:00191 NCBI chr18:50,041,545...50,050,438
Ensembl chr18:50,042,465...50,050,949 		JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO SMPDB SMP:00191 NCBI chr 1:4,875,790...4,912,148
Ensembl chr 1:4,876,794...4,911,976 		JBrowse link
G CNDP2 carnosine dipeptidase 2 ISO SMPDB SMP:00191 NCBI chr 1:4,914,739...4,931,700
Ensembl chr 1:4,914,737...4,929,449 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO SMPDB SMP:00191 NCBI chr31:39,451,557...39,464,249
Ensembl chr31:39,275,159...39,464,715 		JBrowse link
G HAL histidine ammonia-lyase ISO SMPDB SMP:00191 NCBI chr15:35,767,314...35,791,086
Ensembl chr15:35,759,672...35,791,003 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO SMPDB SMP:00191 NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583 		JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00191 NCBI chr 2:35,843,611...35,851,257
Ensembl chr 2:35,843,706...35,850,760 		JBrowse link
G HDC histidine decarboxylase ISO SMPDB SMP:00191 NCBI chr30:16,201,222...16,223,452
Ensembl chr30:16,201,589...16,223,662 		JBrowse link
G HNMT histamine N-methyltransferase ISO SMPDB SMP:00191 NCBI chr19:40,656,266...40,702,498
Ensembl chr19:40,655,161...40,702,218 		JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00191 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757 		JBrowse link
G PRMT3 protein arginine methyltransferase 3 ISO SMPDB SMP:00191 NCBI chr21:42,406,327...42,530,157
Ensembl chr21:42,406,314...42,528,116 		JBrowse link
G UROC1 urocanate hydratase 1 ISO SMPDB SMP:00191 NCBI chr20:676,624...717,109
Ensembl chr20:678,073...717,141 		JBrowse link
holocarboxylase synthetase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTD biotinidase ISO SMPDB SMP:00564 NCBI chr23:27,037,640...27,069,544
Ensembl chr23:27,037,921...27,069,456 		JBrowse link
G HLCS holocarboxylase synthetase ISO SMPDB SMP:00564 NCBI chr31:31,934,796...32,159,866
Ensembl chr31:31,937,087...32,150,861 		JBrowse link
G SPCS1 signal peptidase complex subunit 1 ISO SMPDB SMP:00564 NCBI chr20:37,091,420...37,092,972
Ensembl chr20:37,091,792...37,263,577 		JBrowse link
homocarnosinosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00385 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00385 NCBI chr 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540 		JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 ISO SMPDB SMP:00385 NCBI chr35:22,560,005...22,590,996
Ensembl chr35:22,560,008...22,587,875 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00385 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00385 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697 		JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00385 NCBI chr 6:22,276,189...22,299,865
Ensembl chr 6:22,276,230...22,297,428 		JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00385 NCBI chr36:15,351,289...15,391,701
Ensembl chr36:15,349,683...15,391,824 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00385 NCBI chr12:20,999,815...21,047,779
Ensembl chr12:21,000,792...21,047,779 		JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00385 NCBI chr 6:55,204,602...55,244,217 JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00385 NCBI chr10:68,067,817...68,125,001
Ensembl chr10:68,073,062...68,125,007 		JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00385 NCBI chr10:722,105...737,857
Ensembl chr10:722,202...737,753 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00385 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GLUL glutamate-ammonia ligase ISO SMPDB SMP:00385 NCBI chr 7:15,730,898...15,740,241
Ensembl chr 7:15,730,898...15,740,241 		JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00385 NCBI chr23:49,569,571...49,645,999
Ensembl chr23:49,569,531...49,699,199 		JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00385 NCBI chr 8:28,992,173...29,005,511
Ensembl chr 8:28,993,227...29,005,435 		JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00385 NCBI chr 2:57,968,833...57,994,219
Ensembl chr 2:57,968,833...57,994,218 		JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00385 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156 		JBrowse link
G GSR glutathione-disulfide reductase ISO SMPDB SMP:00385 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752 		JBrowse link
G GSS glutathione synthetase ISO SMPDB SMP:00385 NCBI chr24:23,973,807...24,000,281
Ensembl chr24:23,901,045...23,997,286 		JBrowse link
G NADSYN1 NAD synthetase 1 ISO SMPDB SMP:00385 NCBI chr18:47,216,547...47,254,582
Ensembl chr18:47,216,577...47,254,514 		JBrowse link
G NAGK N-acetylglucosamine kinase ISO SMPDB SMP:00385 NCBI chr17:51,367,477...51,376,461 JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00385 NCBI chr13:48,618,460...48,656,164
Ensembl chr13:48,620,714...48,655,780 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00385 NCBI chr20:40,077,856...40,085,100
Ensembl chr20:40,078,163...40,085,099 		JBrowse link
homocystinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase ISO SMPDB SMP:00177 NCBI chr24:23,410,553...23,423,494
Ensembl chr24:23,411,140...23,419,767 		JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00177 NCBI chr12:67,432,871...67,453,791
Ensembl chr12:67,448,141...67,451,696 		JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00177 NCBI chr 3:27,732,381...27,752,168
Ensembl chr 3:27,734,108...27,752,046 		JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00177 SMP:00515 NCBI chr31:37,230,900...37,247,170 JBrowse link
G CHDH choline dehydrogenase ISO SMPDB SMP:00177 NCBI chr20:36,150,214...36,188,976
Ensembl chr20:36,150,229...36,187,068 		JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00177 SMP:00515 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO SMPDB SMP:00177 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029 		JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00177 NCBI chr 1:106,636,282...106,673,438
Ensembl chr 1:106,657,477...106,673,422 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00177 NCBI chr10:1,588,503...1,606,752
Ensembl chr10:1,588,875...1,606,750 		JBrowse link
G MAT2A methionine adenosyltransferase 2A ISO SMPDB SMP:00177 NCBI chr17:39,525,635...39,532,512
Ensembl chr17:39,525,626...39,532,512 		JBrowse link
G MAT2B methionine adenosyltransferase 2B ISO SMPDB SMP:00177 NCBI chr 4:47,703,991...47,726,363
Ensembl chr 4:47,709,576...47,726,360 		JBrowse link
G MSRB2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00177 NCBI chr 2:10,134,747...10,152,830
Ensembl chr 2:10,135,112...10,152,836 		JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00177 NCBI chr10:7,892,745...8,040,196
Ensembl chr10:7,892,640...8,038,043 		JBrowse link
G MTAP methylthioadenosine phosphorylase ISO SMPDB SMP:00177 NCBI chr11:41,148,389...41,200,635
Ensembl chr11:41,148,404...41,264,504 		JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00177 NCBI chr30:29,388,600...29,415,578
Ensembl chr30:29,388,649...29,450,430 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO SMPDB SMP:00177 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00177 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115 		JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00177 NCBI chr 5:41,221,531...41,248,653
Ensembl chr 5:41,221,562...41,253,166 		JBrowse link
G SRM spermidine synthase ISO SMPDB SMP:00177 NCBI chr 2:84,968,833...84,973,111
Ensembl chr 2:84,967,570...84,973,087 		JBrowse link
hyperargininemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00357 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305 		JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00357 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00357 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00357 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697 		JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00357 NCBI chr10:722,105...737,857
Ensembl chr10:722,202...737,753 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00357 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00357 NCBI chr 2:57,968,833...57,994,219
Ensembl chr 2:57,968,833...57,994,218 		JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00357 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156 		JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00357 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00357 NCBI chr10:64,482,840...64,508,288
Ensembl chr10:64,483,060...64,505,747 		JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00357 NCBI chr 1:109,150,205...109,161,375
Ensembl chr 1:109,150,205...109,161,141 		JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00357 NCBI chr36:16,185,011...16,391,080
Ensembl chr36:16,185,649...16,483,016 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00357 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054 		JBrowse link
hyperlysinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AADAT aminoadipate aminotransferase ISO SMPDB SMP:00527 NCBI chr25:20,920,118...20,944,251
Ensembl chr25:20,920,139...20,945,387 		JBrowse link
G AASS aminoadipate-semialdehyde synthase ISO SMPDB SMP:00527 NCBI chr14:59,950,123...59,993,457
Ensembl chr14:59,951,216...60,000,212 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00527 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00527 NCBI chr11:15,828,581...15,878,556
Ensembl chr11:15,815,936...15,878,516 		JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00527 NCBI chr 2:24,298,323...24,349,848
Ensembl chr 2:24,299,789...24,349,899 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00527 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00527 NCBI chr 8:48,003,730...48,025,001
Ensembl chr 8:48,002,211...48,024,999 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00527 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849 		JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chr32:28,460,445...28,506,141
Ensembl chr32:28,460,193...28,531,280 		JBrowse link
G PIPOX pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00527 NCBI chr 9:43,200,343...43,212,288
Ensembl chr 9:43,200,371...43,212,288 		JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO SMPDB SMP:00527 NCBI chr 2:36,286,080...36,287,619
Ensembl chr 2:36,286,584...36,287,489 		JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO SMPDB SMP:00527 NCBI chr16:40,855,270...40,879,956
Ensembl chr16:40,745,458...40,875,106 		JBrowse link
hypermethioninemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase ISO SMPDB SMP:00341 NCBI chr24:23,410,553...23,423,494
Ensembl chr24:23,411,140...23,419,767 		JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00341 NCBI chr12:67,432,871...67,453,791
Ensembl chr12:67,448,141...67,451,696 		JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00341 NCBI chr 3:27,732,381...27,752,168
Ensembl chr 3:27,734,108...27,752,046 		JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00341 NCBI chr31:37,230,900...37,247,170 JBrowse link
G CHDH choline dehydrogenase ISO SMPDB SMP:00341 NCBI chr20:36,150,214...36,188,976
Ensembl chr20:36,150,229...36,187,068 		JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00341 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO SMPDB SMP:00341 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029 		JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00341 NCBI chr 1:106,636,282...106,673,438
Ensembl chr 1:106,657,477...106,673,422 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00341 NCBI chr10:1,588,503...1,606,752
Ensembl chr10:1,588,875...1,606,750 		JBrowse link
G MAT2A methionine adenosyltransferase 2A ISO SMPDB SMP:00341 NCBI chr17:39,525,635...39,532,512
Ensembl chr17:39,525,626...39,532,512 		JBrowse link
G MAT2B methionine adenosyltransferase 2B ISO SMPDB SMP:00341 NCBI chr 4:47,703,991...47,726,363
Ensembl chr 4:47,709,576...47,726,360 		JBrowse link
G MSRB2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00341 NCBI chr 2:10,134,747...10,152,830
Ensembl chr 2:10,135,112...10,152,836 		JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00341 NCBI chr10:7,892,745...8,040,196
Ensembl chr10:7,892,640...8,038,043 		JBrowse link
G MTAP methylthioadenosine phosphorylase ISO SMPDB SMP:00341 NCBI chr11:41,148,389...41,200,635
Ensembl chr11:41,148,404...41,264,504 		JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00341 NCBI chr30:29,388,600...29,415,578
Ensembl chr30:29,388,649...29,450,430 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO SMPDB SMP:00341 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00341 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115 		JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00341 NCBI chr 5:41,221,531...41,248,653
Ensembl chr 5:41,221,562...41,253,166 		JBrowse link
G SRM spermidine synthase ISO SMPDB SMP:00341 NCBI chr 2:84,968,833...84,973,111
Ensembl chr 2:84,967,570...84,973,087 		JBrowse link
hyperprolinemia type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00361 NCBI chr 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540 		JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00361 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305 		JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00361 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00361 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00361 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697 		JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00361 NCBI chr26:18,032,663...18,057,277
Ensembl chr26:18,033,392...18,057,238 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00361 NCBI chr38:14,754,628...14,823,626
Ensembl chr38:14,754,632...14,823,621 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00361 NCBI chr20:57,440,698...57,442,588 JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00361 NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00361 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00361 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579 		JBrowse link
G LOC100855552 creatine kinase B-type ISO SMPDB SMP:00361 NCBI chr 8:71,284,104...71,287,379 JBrowse link
G LOC477562 proline dehydrogenase 1, mitochondrial ISO SMPDB SMP:00361 NCBI chr26:29,039,007...29,059,722 JBrowse link
G NOS1 nitric oxide synthase 1 ISO SMPDB SMP:00361 NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332 		JBrowse link
G OAT ornithine aminotransferase ISO SMPDB SMP:00361 NCBI chr28:33,763,661...33,788,817
Ensembl chr28:33,758,473...33,788,759 		JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00361 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595 		JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00361 NCBI chr21:23,991,474...24,033,086
Ensembl chr21:23,991,469...24,032,642 		JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00361 NCBI chr 7:38,902,705...38,905,924 JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00361 NCBI chr12:46,993,787...47,047,295
Ensembl chr12:46,992,959...47,047,240 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00361 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054 		JBrowse link
hyperprolinemia type II pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00360 NCBI chr 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540 		JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00360 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305 		JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00360 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00360 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00360 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697 		JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00360 NCBI chr26:18,032,663...18,057,277
Ensembl chr26:18,033,392...18,057,238 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00360 NCBI chr38:14,754,628...14,823,626
Ensembl chr38:14,754,632...14,823,621 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00360 NCBI chr20:57,440,698...57,442,588 JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00360 NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00360 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00360 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579 		JBrowse link
G LOC100855552 creatine kinase B-type ISO SMPDB SMP:00360 NCBI chr 8:71,284,104...71,287,379 JBrowse link
G LOC477562 proline dehydrogenase 1, mitochondrial ISO SMPDB SMP:00360 NCBI chr26:29,039,007...29,059,722 JBrowse link
G NOS1 nitric oxide synthase 1 ISO SMPDB SMP:00360 NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332 		JBrowse link
G OAT ornithine aminotransferase ISO SMPDB SMP:00360 NCBI chr28:33,763,661...33,788,817
Ensembl chr28:33,758,473...33,788,759 		JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00360 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595 		JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00360 NCBI chr21:23,991,474...24,033,086
Ensembl chr21:23,991,469...24,032,642 		JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00360 NCBI chr 7:38,902,705...38,905,924 JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00360 NCBI chr12:46,993,787...47,047,295
Ensembl chr12:46,992,959...47,047,240 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00360 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054 		JBrowse link
hypophosphatasia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPL alkaline phosphatase, biomineralization associated ISO SMPDB SMP:00503 NCBI chr 2:77,559,791...77,614,102
Ensembl chr 2:77,559,791...77,614,820 		JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00503 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319 		JBrowse link
G PDXP pyridoxal phosphatase ISO SMPDB SMP:00503 NCBI chr10:26,945,751...26,952,234
Ensembl chr10:26,946,838...26,952,217 		JBrowse link
G PNPO pyridoxamine 5'-phosphate oxidase ISO SMPDB SMP:00503 NCBI chr 9:24,252,895...24,258,523
Ensembl chr 9:24,252,964...24,258,106 		JBrowse link
isobutyryl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00523 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00523 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00523 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00523 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00523 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00523 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00523 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00523 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00523 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283 		JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00523 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00523 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471 		JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00523 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00523 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00523 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802 		JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00523 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00523 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00523 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00523 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00523 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00523 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00523 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00523 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00523 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00523 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00523 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273 		JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00523 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830 		JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00523 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897 		JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00523 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00523 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00523 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366 		JBrowse link
isovaleric acidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00238 SMP:00524 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283 		JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471 		JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00238 SMP:00524 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802 		JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00238 SMP:00524 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00238 SMP:00524 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273 		JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830 		JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00238 SMP:00524 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897 		JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00238 SMP:00524 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00238 SMP:00524 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366 		JBrowse link
Krabbe disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACER1 alkaline ceramidase 1 ISO SMPDB SMP:00348 NCBI chr20:53,819,224...53,838,183
Ensembl chr20:53,819,074...53,838,438 		JBrowse link
G ACER3 alkaline ceramidase 3 ISO SMPDB SMP:00348 NCBI chr21:21,711,315...21,863,409
Ensembl chr21:21,714,156...21,863,320 		JBrowse link
G ARSA arylsulfatase A ISO SMPDB SMP:00348 NCBI chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398 		JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00348 NCBI chr 7:57,849,872...57,917,289
Ensembl chr 7:57,849,884...57,914,360 		JBrowse link
G CERK ceramide kinase ISO SMPDB SMP:00348 NCBI chr10:19,560,125...19,601,223
Ensembl chr10:19,556,087...19,598,954 		JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00348 NCBI chr 8:68,461,461...68,483,685
Ensembl chr 8:68,462,555...68,533,062 		JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00348 NCBI chr 9:1,887,093...1,894,728
Ensembl chr 9:1,887,201...1,897,473 		JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00348 NCBI chr26:23,634,884...23,654,205
Ensembl chr26:23,637,844...23,646,219 		JBrowse link
G GALC galactosylceramidase ISO SMPDB SMP:00348 NCBI chr 8:59,266,693...59,324,825
Ensembl chr 8:59,267,818...59,324,967 		JBrowse link
G GBA1 glucosylceramidase beta 1 ISO SMPDB SMP:00348 NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864 		JBrowse link
G GLA galactosidase alpha ISO SMPDB SMP:00348 NCBI chr  X:75,311,536...75,320,391
Ensembl chr  X:75,311,536...75,320,249 		JBrowse link
G GLB1 galactosidase beta 1 ISO SMPDB SMP:00348 NCBI chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00348 NCBI chr 1:13,682,838...13,726,872
Ensembl chr 1:13,689,246...13,723,528 		JBrowse link
G NEU3 neuraminidase 3 ISO SMPDB SMP:00348 NCBI chr21:23,456,424...23,484,872 JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00348 NCBI chr 2:42,761,712...42,854,515
Ensembl chr 2:42,763,026...42,854,802 		JBrowse link
G SGMS1 sphingomyelin synthase 1 ISO SMPDB SMP:00348 NCBI chr26:37,243,388...37,472,806
Ensembl chr26:37,244,900...37,348,802 		JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00348 NCBI chr 4:21,666,264...21,717,476
Ensembl chr 4:21,660,939...21,715,155 		JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00348 NCBI chr37:28,536,815...28,639,380 JBrowse link
G SPHK2 sphingosine kinase 2 ISO SMPDB SMP:00348 NCBI chr 1:107,681,425...107,689,790
Ensembl chr 1:107,680,599...107,689,707 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00348 NCBI chr 1:94,997,240...95,062,424
Ensembl chr 1:94,997,290...95,064,468 		JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00348 NCBI chr 8:50,291,797...50,401,202
Ensembl chr 8:50,271,010...50,401,313 		JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00348 NCBI chr11:66,439,346...66,472,897
Ensembl chr11:66,439,346...66,472,897 		JBrowse link
G UGT8 UDP glycosyltransferase 8 ISO SMPDB SMP:00348 NCBI chr32:34,148,874...34,250,891
Ensembl chr32:34,179,247...34,233,116 		JBrowse link
Leigh disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACACA acetyl-CoA carboxylase alpha ISO SMPDB SMP:00196 NCBI chr 9:36,904,204...37,188,096
Ensembl chr 9:36,905,293...37,187,892 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00196 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ACOT12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00196 NCBI chr 3:25,928,356...25,979,688
Ensembl chr 3:25,928,394...25,971,378 		JBrowse link
G ACSS2 acyl-CoA synthetase short chain family member 2 ISO SMPDB SMP:00196 NCBI chr24:23,928,800...23,973,383
Ensembl chr24:23,928,838...23,972,651 		JBrowse link
G ACYP1 acylphosphatase 1 ISO SMPDB SMP:00196 NCBI chr 8:48,155,415...48,169,211
Ensembl chr 8:48,155,412...48,169,261 		JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00196 NCBI chr14:2,991,888...3,006,941
Ensembl chr14:2,991,888...3,006,940 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00196 NCBI chr26:9,319,109...9,361,021 JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00196 NCBI chr 5:21,062,833...21,094,235
Ensembl chr 5:21,064,026...21,094,153 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00196 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G GLO1 glyoxalase I ISO SMPDB SMP:00196 NCBI chr12:7,584,141...7,609,615
Ensembl chr12:7,585,531...7,609,550 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00196 NCBI chr11:53,748,389...53,759,692
Ensembl chr11:53,748,414...53,759,693 		JBrowse link
G HAGH hydroxyacylglutathione hydrolase ISO SMPDB SMP:00196 NCBI chr 6:39,076,364...39,105,646
Ensembl chr 6:39,084,513...39,105,592 		JBrowse link
G LDHD lactate dehydrogenase D ISO SMPDB SMP:00196 NCBI chr 5:75,566,495...75,591,093
Ensembl chr 5:75,587,012...75,591,373 		JBrowse link
G MDH1 malate dehydrogenase 1 ISO SMPDB SMP:00196 NCBI chr10:63,316,818...63,334,556
Ensembl chr10:63,316,831...63,361,735 		JBrowse link
G ME1 malic enzyme 1 ISO SMPDB SMP:00196 NCBI chr12:43,623,413...43,793,590
Ensembl chr12:43,624,945...43,828,775 		JBrowse link
G ME2 malic enzyme 2 ISO SMPDB SMP:00196 NCBI chr 1:23,985,482...24,032,642
Ensembl chr 1:23,985,994...24,025,747 		JBrowse link
G PC pyruvate carboxylase ISO SMPDB SMP:00196 NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00196 NCBI chr24:42,538,858...42,544,200
Ensembl chr24:42,538,882...42,544,198 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00196 NCBI chr  X:15,338,364...15,354,011
Ensembl chr  X:15,338,202...15,387,458 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00196 NCBI chr20:32,185,420...32,191,592 JBrowse link
G PKLR pyruvate kinase L/R ISO SMPDB SMP:00196 NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755 		JBrowse link
Lesch-Nyhan syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO SMPDB SMP:00364 NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160 		JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00364 NCBI chr 7:30,576,445...30,660,926
Ensembl chr 7:30,577,591...30,660,926 		JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00364 NCBI chr10:24,813,854...24,832,115 JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00364 NCBI chr 7:35,440,250...35,477,470
Ensembl chr 7:35,440,676...35,476,795 		JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00364 NCBI chr 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132 		JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00364 NCBI chr17:52,377,411...52,399,525
Ensembl chr17:52,377,402...52,399,520 		JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00364 NCBI chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00364 NCBI chr26:37,749,799...37,811,490
Ensembl chr26:37,750,649...37,794,149 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00364 NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697 		JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00364 NCBI chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782 		JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00364 NCBI chr 8:47,193,463...47,245,865
Ensembl chr 8:47,196,439...47,229,964 		JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00364 NCBI chr 9:48,301,499...48,306,210
Ensembl chr 9:48,303,206...48,305,992 		JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00364 NCBI chr 1:85,506,598...85,586,212
Ensembl chr 1:85,444,917...85,586,163 		JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00364 NCBI chr35:15,400,937...15,449,157
Ensembl chr35:15,401,003...15,448,022 		JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00364 NCBI chr23:49,569,571...49,645,999
Ensembl chr23:49,569,531...49,699,199 		JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00364 NCBI chr 5:25,291,019...25,718,918
Ensembl chr 5:25,291,583...25,686,947 		JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00364 NCBI chr15:53,266,243...53,312,109
Ensembl chr15:53,265,350...53,312,111 		JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00364 NCBI chr14:820,048...826,694
Ensembl chr14:820,093...827,250 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00364 NCBI chr  X:105,115,732...105,153,702
Ensembl chr  X:105,115,732...105,153,702 		JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00364 NCBI chr14:8,001,575...8,013,181
Ensembl chr14:7,996,717...8,012,467 		JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00364 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163 		JBrowse link
G LOC100687127 thioredoxin-like ISO SMPDB SMP:00364 NCBI chr  X:82,986,288...82,986,753 JBrowse link
G LOC487740 trifunctional purine biosynthetic protein adenosine-3 ISO SMPDB SMP:00364 NCBI chr31:29,032,399...29,063,706 JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00364 NCBI chr20:40,769,394...40,778,802
Ensembl chr20:40,769,501...40,776,496 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00364 NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235 		JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00364 NCBI chr11:51,049,992...51,064,317
Ensembl chr11:51,050,053...51,064,178 		JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00364 NCBI chr 2:24,239,632...24,266,763
Ensembl chr 2:24,239,627...24,264,469 		JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00364 NCBI chr13:48,296,232...48,682,650 JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00364 NCBI chr 1:53,457,781...54,049,735
Ensembl chr 1:53,462,979...53,801,966 		JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00364 NCBI chr 2:45,843,767...47,245,263
Ensembl chr 2:45,846,294...46,949,912 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00364 NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287 		JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00364 NCBI chr15:17,808,454...17,815,987
Ensembl chr15:17,808,461...17,815,676 		JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00364 NCBI chr13:48,618,460...48,656,164
Ensembl chr13:48,620,714...48,655,780 		JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00364 NCBI chr21:26,595,838...26,631,476
Ensembl chr21:26,595,914...26,631,135 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00364 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939 		JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00364 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935 		JBrowse link
leukotriene C4 synthase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) ISO SMPDB SMP:00353 NCBI chr 2:30,661,333...30,691,283
Ensembl chr 2:30,674,558...30,690,043 		JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type ISO SMPDB SMP:00353 NCBI chr 5:32,026,193...32,038,698
Ensembl chr 5:31,882,501...32,038,119 		JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO SMPDB SMP:00353 NCBI chr 5:32,899,416...32,911,442
Ensembl chr 5:32,896,238...32,911,552 		JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO SMPDB SMP:00353 NCBI chr 5:31,883,544...31,891,357
Ensembl chr 5:31,882,501...32,038,119 		JBrowse link
G ALOX15B arachidonate 15-lipoxygenase type B ISO SMPDB SMP:00353 NCBI chr 5:32,878,348...32,888,253
Ensembl chr 5:32,878,338...32,888,316 		JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO SMPDB SMP:00353 NCBI chr28:2,170,920...2,218,765
Ensembl chr28:2,170,920...2,219,609 		JBrowse link
G CYP2B6 cytochrome P450 2B11 ISO SMPDB SMP:00353 NCBI chr 1:112,817,561...112,833,294
Ensembl chr 1:112,816,502...112,833,293 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO SMPDB SMP:00353 NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754 		JBrowse link
G CYP2J2 cytochrome P450 family 2 subfamily J member 2 ISO SMPDB SMP:00353 NCBI chr 5:49,942,241...49,986,603
Ensembl chr 5:49,942,193...49,984,617 		JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 ISO SMPDB SMP:00353 NCBI chr32:28,426,250...28,445,399
Ensembl chr32:28,438,173...28,444,383 		JBrowse link
G EPHX2 epoxide hydrolase 2 ISO SMPDB SMP:00353 NCBI chr25:30,045,040...30,107,110
Ensembl chr25:30,045,291...30,107,110 		JBrowse link
G GGT1 gamma-glutamyltransferase 1 ISO SMPDB SMP:00353 NCBI chr26:28,301,455...28,315,029 JBrowse link
G GPX1 glutathione peroxidase 1 ISO SMPDB SMP:00353 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260 		JBrowse link
G LOC484867 cytochrome P450 4F3 ISO SMPDB SMP:00353 NCBI chr20:46,611,799...46,664,131
Ensembl chr20:46,458,620...46,705,789 		JBrowse link
G LOC610164 carbonyl reductase [NADPH] 1 ISO SMPDB SMP:00353 NCBI chr31:31,316,573...31,321,413 JBrowse link
G LTA4H leukotriene A4 hydrolase ISO SMPDB SMP:00353 NCBI chr15:35,795,934...35,830,681
Ensembl chr15:35,795,979...35,830,844 		JBrowse link
G LTC4S leukotriene C4 synthase ISO SMPDB SMP:00353 NCBI chr11:1,893,927...1,897,028
Ensembl chr11:1,894,380...1,897,752 		JBrowse link
G PLA2G4B phospholipase A2 group IVB ISO SMPDB SMP:00353 NCBI chr30:8,865,941...8,878,687
Ensembl chr30:8,859,257...8,876,395 		JBrowse link
G PRXL2B peroxiredoxin like 2B ISO SMPDB SMP:00353 NCBI chr 5:57,429,973...57,434,371
Ensembl chr 5:57,429,212...57,434,210 		JBrowse link
G PTGDS prostaglandin D2 synthase ISO SMPDB SMP:00353 NCBI chr 9:48,647,334...48,650,608
Ensembl chr 9:48,646,255...48,669,814 		JBrowse link
G PTGES prostaglandin E synthase ISO SMPDB SMP:00353 NCBI chr 9:54,071,472...54,082,232
Ensembl chr 9:54,071,472...54,082,232 		JBrowse link
G PTGIS prostaglandin I2 synthase ISO SMPDB SMP:00353 NCBI chr24:36,129,091...36,162,525
Ensembl chr24:36,132,173...36,162,509 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO SMPDB SMP:00353 NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO SMPDB SMP:00353 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903 		JBrowse link
G TBXAS1 thromboxane A synthase 1 ISO SMPDB SMP:00353 NCBI chr16:8,870,283...9,032,105
Ensembl chr16:8,870,284...9,023,462 		JBrowse link
lipoid congenital adrenal hyperplasia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00371 NCBI chr16:1,499,251...1,583,965 JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO SMPDB SMP:00371 NCBI chr30:37,474,997...37,487,028
Ensembl chr30:37,473,901...37,487,507 		JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO SMPDB SMP:00371 NCBI chr13:36,866,476...36,880,625 JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO SMPDB SMP:00371 NCBI chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852 		JBrowse link
G CYP21A2 cytochrome P450c21 ISO SMPDB SMP:00371 NCBI chr12:1,450,677...1,453,700
Ensembl chr12:1,450,677...1,453,734 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00371 NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897 		JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00371 NCBI chr 5:81,966,397...81,970,301
Ensembl chr 5:81,966,937...81,968,991 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00371 NCBI chr17:56,552,945...56,561,062
Ensembl chr17:56,552,945...56,561,062 		JBrowse link
lysinuric protein intolerance pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP1 aquaporin 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr14:43,592,266...43,603,903
Ensembl chr14:43,578,721...43,605,720 		JBrowse link
G AQP2 aquaporin 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr27:4,743,127...4,750,907
Ensembl chr27:4,743,127...4,750,907 		JBrowse link
G AQP3 aquaporin 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr11:50,517,509...50,524,565 JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr17:53,828,482...53,847,043
Ensembl chr17:53,813,976...53,847,167 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916 		JBrowse link
G ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chr38:22,023,176...22,080,656
Ensembl chr38:22,023,221...22,080,604 		JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 7:29,464,132...29,487,124
Ensembl chr 7:29,464,132...29,487,947 		JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 5:32,548,591...32,553,911
Ensembl chr 5:32,549,167...32,553,504 		JBrowse link
G ATP1B3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr23:37,684,507...37,727,535
Ensembl chr23:37,684,506...37,726,746 		JBrowse link
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chr  X:92,347,443...92,368,206
Ensembl chr  X:92,347,684...92,365,341 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 5:15,812,335...15,824,552
Ensembl chr 5:15,815,969...15,823,057 		JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr15:46,390,030...46,718,000
Ensembl chr15:46,390,023...46,710,131 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00197 SMP:00585 NCBI chr27:38,612,206...38,638,212
Ensembl chr27:38,612,194...38,638,980 		JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00197 SMP:00585 NCBI chr 6:22,439,643...22,481,349
Ensembl chr 6:22,439,643...22,481,349 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO SMPDB SMP:00197 SMP:00585 NCBI chr 5:56,455,677...56,466,035
Ensembl chr 5:56,461,939...56,465,595 		JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00197 SMP:00585 NCBI chr 6:22,566,568...22,593,479
Ensembl chr 6:22,567,711...22,593,503 		JBrowse link
G SLC12A1 solute carrier family 12 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr30:14,458,373...14,548,870
Ensembl chr30:14,459,606...14,547,694 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 2:59,413,737...59,449,129
Ensembl chr 2:59,413,828...59,449,081 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr30:773,021...860,936
Ensembl chr30:773,933...858,487 		JBrowse link
G SLC14A2 solute carrier family 14 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 7:45,435,387...45,868,977
Ensembl chr 7:45,431,450...45,490,430 		JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:92,898,274...92,978,260
Ensembl chr 1:92,898,274...92,978,260 		JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:49,327,621...49,348,435
Ensembl chr 1:49,327,296...49,348,435 		JBrowse link
G SLC22A6 solute carrier family 22 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr18:53,736,669...53,745,001
Ensembl chr18:53,736,959...53,744,396 		JBrowse link
G SLC38A4 solute carrier family 38 member 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chr27:7,685,955...7,756,222
Ensembl chr27:7,685,660...7,770,363 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr10:46,690,555...46,737,417
Ensembl chr10:46,685,137...46,737,147 		JBrowse link
G SLC3A2 solute carrier family 3 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr18:53,810,468...53,819,021
Ensembl chr18:53,810,398...53,819,021 		JBrowse link
G SLC6A20 solute carrier family 6 member 20 ISO SMPDB SMP:00197 SMP:00585 NCBI chr20:42,702,368...42,725,804
Ensembl chr20:42,702,379...42,724,658 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858 		JBrowse link
G SLC7A6 solute carrier family 7 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 5:81,229,251...81,267,325
Ensembl chr 5:81,231,680...81,252,295 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 8:3,132,735...3,209,259
Ensembl chr 8:3,133,139...3,165,832 		JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 8:3,430,208...3,479,985
Ensembl chr 8:3,430,208...3,479,985 		JBrowse link
G SLC7A9 solute carrier family 7 member 9 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:119,205,833...119,229,054
Ensembl chr 1:119,205,833...119,229,054 		JBrowse link
malonic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00198 SMP:00502 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ACACA acetyl-CoA carboxylase alpha ISO SMPDB SMP:00198 SMP:00502 NCBI chr 9:36,904,204...37,188,096
Ensembl chr 9:36,905,293...37,187,892 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00198 SMP:00502 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00198 SMP:00502 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ACSS1 acyl-CoA synthetase short chain family member 1 ISO SMPDB SMP:00198 SMP:00502 NCBI chr23:1,192,771...1,251,724
Ensembl chr23:1,184,392...1,252,255 		JBrowse link
G ACSS3 acyl-CoA synthetase short chain family member 3 ISO SMPDB SMP:00198 SMP:00502 NCBI chr15:23,337,386...23,480,766
Ensembl chr15:23,338,432...23,478,593 		JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00198 SMP:00502 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00198 SMP:00502 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00198 SMP:00502 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802 		JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00198 SMP:00502 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00198 SMP:00502 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00198 SMP:00502 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00198 SMP:00502 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941 		JBrowse link
G LDHAL6B lactate dehydrogenase A like 6B ISO SMPDB SMP:00198 SMP:00502 NCBI chr 1:46,878,452...46,880,160 JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00198 SMP:00502 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830 		JBrowse link
G MLYCD malonyl-CoA decarboxylase ISO SMPDB SMP:00198 SMP:00502 NCBI chr 5:68,385,058...68,399,965
Ensembl chr 5:68,384,618...68,399,965 		JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00198 SMP:00502 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00198 SMP:00502 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00198 SMP:00502 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366 		JBrowse link
maple syrup urine disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00199 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00199 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00199 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00199 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00199 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00199 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00199 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00199 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00199 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283 		JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00199 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00199 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471 		JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00199 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00199 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00199 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802 		JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00199 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00199 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00199 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00199 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00199 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00199 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00199 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00199 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00199 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00199 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00199 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273 		JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00199 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830 		JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00199 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897 		JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00199 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00199 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00199 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366 		JBrowse link
medium chain acyl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00542 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00542 NCBI chr37:18,028,244...18,073,975
Ensembl chr37:18,017,087...18,073,862 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00542 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00542 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00542 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00542 NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00542 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00542 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00542 NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00542 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00542 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00542 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00542 NCBI chr17:20,307,207...20,355,659
Ensembl chr17:20,307,226...20,355,508 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00542 NCBI chr17:20,355,778...20,399,869 JBrowse link
mercaptolactate-cysteine disulfiduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARS1 cysteinyl-tRNA synthetase 1 ISO SMPDB SMP:00499 NCBI chr18:46,959,743...47,007,521
Ensembl chr18:46,959,743...47,007,460 		JBrowse link
G CDO1 cysteine dioxygenase type 1 ISO SMPDB SMP:00499 NCBI chr11:5,512,996...5,524,556
Ensembl chr11:5,371,378...5,524,562 		JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00499 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter ISO SMPDB SMP:00499 NCBI chr 9:47,474,488...47,490,951
Ensembl chr 9:47,473,901...47,490,252 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00499 NCBI chr12:20,999,815...21,047,779
Ensembl chr12:21,000,792...21,047,779 		JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00499 NCBI chr 6:55,204,602...55,244,217 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00499 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579 		JBrowse link
G MPST mercaptopyruvate sulfurtransferase ISO SMPDB SMP:00499 NCBI chr10:27,465,007...27,469,788
Ensembl chr10:27,443,865...27,469,554 		JBrowse link
metachromatic leukodystrophy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACER1 alkaline ceramidase 1 ISO SMPDB SMP:00347 NCBI chr20:53,819,224...53,838,183
Ensembl chr20:53,819,074...53,838,438 		JBrowse link
G ACER3 alkaline ceramidase 3 ISO SMPDB SMP:00347 NCBI chr21:21,711,315...21,863,409
Ensembl chr21:21,714,156...21,863,320 		JBrowse link
G ARSA arylsulfatase A ISO SMPDB SMP:00347 NCBI chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398 		JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00347 NCBI chr 7:57,849,872...57,917,289
Ensembl chr 7:57,849,884...57,914,360 		JBrowse link
G CERK ceramide kinase ISO SMPDB SMP:00347 NCBI chr10:19,560,125...19,601,223
Ensembl chr10:19,556,087...19,598,954 		JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00347 NCBI chr 8:68,461,461...68,483,685
Ensembl chr 8:68,462,555...68,533,062 		JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00347 NCBI chr 9:1,887,093...1,894,728
Ensembl chr 9:1,887,201...1,897,473 		JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00347 NCBI chr26:23,634,884...23,654,205
Ensembl chr26:23,637,844...23,646,219 		JBrowse link
G GALC galactosylceramidase ISO SMPDB SMP:00347 NCBI chr 8:59,266,693...59,324,825
Ensembl chr 8:59,267,818...59,324,967 		JBrowse link
G GBA1 glucosylceramidase beta 1 ISO SMPDB SMP:00347 NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864 		JBrowse link
G GLA galactosidase alpha ISO SMPDB SMP:00347 NCBI chr  X:75,311,536...75,320,391
Ensembl chr  X:75,311,536...75,320,249 		JBrowse link
G GLB1 galactosidase beta 1 ISO SMPDB SMP:00347 NCBI chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00347 NCBI chr 1:13,682,838...13,726,872
Ensembl chr 1:13,689,246...13,723,528 		JBrowse link
G NEU3 neuraminidase 3 ISO SMPDB SMP:00347 NCBI chr21:23,456,424...23,484,872 JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00347 NCBI chr 2:42,761,712...42,854,515
Ensembl chr 2:42,763,026...42,854,802 		JBrowse link
G SGMS1 sphingomyelin synthase 1 ISO SMPDB SMP:00347 NCBI chr26:37,243,388...37,472,806
Ensembl chr26:37,244,900...37,348,802 		JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00347 NCBI chr 4:21,666,264...21,717,476
Ensembl chr 4:21,660,939...21,715,155 		JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00347 NCBI chr37:28,536,815...28,639,380 JBrowse link
G SPHK2 sphingosine kinase 2 ISO SMPDB SMP:00347 NCBI chr 1:107,681,425...107,689,790
Ensembl chr 1:107,680,599...107,689,707 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00347 NCBI chr 1:94,997,240...95,062,424
Ensembl chr 1:94,997,290...95,064,468 		JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00347 NCBI chr 8:50,291,797...50,401,202
Ensembl chr 8:50,271,010...50,401,313 		JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00347 NCBI chr11:66,439,346...66,472,897
Ensembl chr11:66,439,346...66,472,897 		JBrowse link
G UGT8 UDP glycosyltransferase 8 ISO SMPDB SMP:00347 NCBI chr32:34,148,874...34,250,891
Ensembl chr32:34,179,247...34,233,116 		JBrowse link
methylenetetrahydrofolate reductase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase ISO SMPDB SMP:00340 NCBI chr24:23,410,553...23,423,494
Ensembl chr24:23,411,140...23,419,767 		JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00340 NCBI chr12:67,432,871...67,453,791
Ensembl chr12:67,448,141...67,451,696 		JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00340 NCBI chr 3:27,732,381...27,752,168
Ensembl chr 3:27,734,108...27,752,046 		JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00340 NCBI chr31:37,230,900...37,247,170 JBrowse link
G CHDH choline dehydrogenase ISO SMPDB SMP:00340 NCBI chr20:36,150,214...36,188,976
Ensembl chr20:36,150,229...36,187,068 		JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00340 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO SMPDB SMP:00340 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029 		JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00340 NCBI chr 1:106,636,282...106,673,438
Ensembl chr 1:106,657,477...106,673,422 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00340 NCBI chr10:1,588,503...1,606,752
Ensembl chr10:1,588,875...1,606,750 		JBrowse link
G MAT2A methionine adenosyltransferase 2A ISO SMPDB SMP:00340 NCBI chr17:39,525,635...39,532,512
Ensembl chr17:39,525,626...39,532,512 		JBrowse link
G MAT2B methionine adenosyltransferase 2B ISO SMPDB SMP:00340 NCBI chr 4:47,703,991...47,726,363
Ensembl chr 4:47,709,576...47,726,360 		JBrowse link
G MSRB2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00340 NCBI chr 2:10,134,747...10,152,830
Ensembl chr 2:10,135,112...10,152,836 		JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00340 NCBI chr10:7,892,745...8,040,196
Ensembl chr10:7,892,640...8,038,043 		JBrowse link
G MTAP methylthioadenosine phosphorylase ISO SMPDB SMP:00340 NCBI chr11:41,148,389...41,200,635
Ensembl chr11:41,148,404...41,264,504 		JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00340 NCBI chr30:29,388,600...29,415,578
Ensembl chr30:29,388,649...29,450,430 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO SMPDB SMP:00340 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00340 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115 		JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00340 NCBI chr 5:41,221,531...41,248,653
Ensembl chr 5:41,221,562...41,253,166 		JBrowse link
G SRM spermidine synthase ISO SMPDB SMP:00340 NCBI chr 2:84,968,833...84,973,111
Ensembl chr 2:84,967,570...84,973,087 		JBrowse link
methylmalonate semialdehyde dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00384 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00384 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00384 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00384 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00384 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00384 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00384 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00384 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00384 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283 		JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00384 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00384 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471 		JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00384 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00384 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00384 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802 		JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00384 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00384 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00384 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00384 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00384 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00384 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00384 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00384 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00384 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00384 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00384 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273 		JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00384 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830 		JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00384 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897 		JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00384 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00384 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00384 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366 		JBrowse link
methylmalonic acidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00200 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00200 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00200 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00200 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00200 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00200 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00200 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00200 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00200 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283 		JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00200 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00200 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471 		JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00200 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00200 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00200 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802 		JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00200 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00200 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00200 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00200 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00200 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00200 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00200 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00200 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00200 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00200 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00200 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273 		JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00200 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830 		JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00200 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897 		JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00200 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00200 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00200 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366 		JBrowse link
methylmalonic aciduria, cobalamin-related pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00201 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ACACA acetyl-CoA carboxylase alpha ISO SMPDB SMP:00201 NCBI chr 9:36,904,204...37,188,096
Ensembl chr 9:36,905,293...37,187,892 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00201 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00201 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ACSS1 acyl-CoA synthetase short chain family member 1 ISO SMPDB SMP:00201 NCBI chr23:1,192,771...1,251,724
Ensembl chr23:1,184,392...1,252,255 		JBrowse link
G ACSS3 acyl-CoA synthetase short chain family member 3 ISO SMPDB SMP:00201 NCBI chr15:23,337,386...23,480,766
Ensembl chr15:23,338,432...23,478,593 		JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00201 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00201 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00201 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802 		JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00201 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00201 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00201 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00201 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941 		JBrowse link
G LDHAL6B lactate dehydrogenase A like 6B ISO SMPDB SMP:00201 NCBI chr 1:46,878,452...46,880,160 JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00201 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830 		JBrowse link
G MLYCD malonyl-CoA decarboxylase ISO SMPDB SMP:00201 NCBI chr 5:68,385,058...68,399,965
Ensembl chr 5:68,384,618...68,399,965 		JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00201 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00201 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00201 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366 		JBrowse link
mevalonic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00509 SMP:00510 NCBI chr 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327 		JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chr14:17,746,654...17,767,019
Ensembl chr14:17,746,656...17,766,658 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00509 SMP:00510 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921 		JBrowse link
G EBP cholestenol delta-isomerase ISO SMPDB SMP:00509 SMP:00510 NCBI chr  X:41,774,857...41,779,474
Ensembl chr  X:41,762,692...41,779,476 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chr25:26,060,031...26,093,515
Ensembl chr25:26,060,386...26,093,582 		JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00509 SMP:00510 NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225 		JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00509 SMP:00510 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294 		JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chr 4:66,633,706...66,654,005
Ensembl chr 4:66,633,572...66,652,196 		JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00509 SMP:00510 NCBI chr38:19,975,935...19,999,077
Ensembl chr38:19,977,086...19,999,010 		JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chr 2:33,927,759...33,930,651 JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00509 SMP:00510 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436 		JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00509 SMP:00510 NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042 		JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chr15:61,293,769...61,307,285
Ensembl chr  X:8,144,335...8,145,216
Ensembl chr15:8,144,335...8,145,216 		JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00509 SMP:00510 NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073 		JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00509 SMP:00510 NCBI chr26:17,497,516...17,519,015
Ensembl chr26:17,497,513...17,519,385 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO SMPDB SMP:00509 SMP:00510 NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143 		JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00509 SMP:00510 NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625 		JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00509 SMP:00510 NCBI chr 5:12,760,591...12,774,484
Ensembl chr 5:12,763,286...12,775,393 		JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chr 7:20,481,386...20,556,706
Ensembl chr 7:20,486,069...20,546,055 		JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00509 SMP:00510 NCBI chr13:22,994,010...23,018,134
Ensembl chr13:22,993,862...23,017,978 		JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00509 SMP:00510 NCBI chr18:52,079,367...52,083,762
Ensembl chr18:52,079,425...52,085,390 		JBrowse link
molybdenum cofactor deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO SMPDB SMP:00203 NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160 		JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00203 NCBI chr 7:30,576,445...30,660,926
Ensembl chr 7:30,577,591...30,660,926 		JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00203 NCBI chr10:24,813,854...24,832,115 JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00203 NCBI chr 7:35,440,250...35,477,470
Ensembl chr 7:35,440,676...35,476,795 		JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00203 NCBI chr 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132 		JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00203 NCBI chr17:52,377,411...52,399,525
Ensembl chr17:52,377,402...52,399,520 		JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00203 NCBI chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00203 NCBI chr26:37,749,799...37,811,490
Ensembl chr26:37,750,649...37,794,149 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00203 NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697 		JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00203 NCBI chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782 		JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00203 NCBI chr 8:47,193,463...47,245,865
Ensembl chr 8:47,196,439...47,229,964 		JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00203 NCBI chr 9:48,301,499...48,306,210
Ensembl chr 9:48,303,206...48,305,992 		JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00203 NCBI chr 1:85,506,598...85,586,212
Ensembl chr 1:85,444,917...85,586,163 		JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00203 NCBI chr35:15,400,937...15,449,157
Ensembl chr35:15,401,003...15,448,022 		JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00203 NCBI chr23:49,569,571...49,645,999
Ensembl chr23:49,569,531...49,699,199 		JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00203 NCBI chr 5:25,291,019...25,718,918
Ensembl chr 5:25,291,583...25,686,947 		JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00203 NCBI chr15:53,266,243...53,312,109
Ensembl chr15:53,265,350...53,312,111 		JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00203 NCBI chr14:820,048...826,694
Ensembl chr14:820,093...827,250 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00203 NCBI chr  X:105,115,732...105,153,702
Ensembl chr  X:105,115,732...105,153,702 		JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00203 NCBI chr14:8,001,575...8,013,181
Ensembl chr14:7,996,717...8,012,467 		JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00203 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163 		JBrowse link
G LOC100687127 thioredoxin-like ISO SMPDB SMP:00203 NCBI chr  X:82,986,288...82,986,753 JBrowse link
G LOC487740 trifunctional purine biosynthetic protein adenosine-3 ISO SMPDB SMP:00203 NCBI chr31:29,032,399...29,063,706 JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00203 NCBI chr20:40,769,394...40,778,802
Ensembl chr20:40,769,501...40,776,496 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00203 NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235 		JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00203 NCBI chr11:51,049,992...51,064,317
Ensembl chr11:51,050,053...51,064,178 		JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00203 NCBI chr 2:24,239,632...24,266,763
Ensembl chr 2:24,239,627...24,264,469 		JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00203 NCBI chr13:48,296,232...48,682,650 JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00203 NCBI chr 1:53,457,781...54,049,735
Ensembl chr 1:53,462,979...53,801,966 		JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00203 NCBI chr 2:45,843,767...47,245,263
Ensembl chr 2:45,846,294...46,949,912 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00203 NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287 		JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00203 NCBI chr15:17,808,454...17,815,987
Ensembl chr15:17,808,461...17,815,676 		JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00203 NCBI chr13:48,618,460...48,656,164
Ensembl chr13:48,620,714...48,655,780 		JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00203 NCBI chr21:26,595,838...26,631,476
Ensembl chr21:26,595,914...26,631,135 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00203 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939 		JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00203 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935 		JBrowse link
nonketotic hyperglycinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate and serine--pyruvate aminotransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr25:50,968,291...50,976,089 JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr20:37,552,813...37,566,417
Ensembl chr20:37,552,814...37,566,638 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00223 SMP:00485 NCBI chr26:9,319,109...9,361,021 JBrowse link
G AMT aminomethyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr20:39,815,449...39,820,907
Ensembl chr20:39,815,814...39,820,506 		JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 3:27,732,381...27,752,168
Ensembl chr 3:27,734,108...27,752,046 		JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00223 SMP:00485 NCBI chr31:37,230,900...37,247,170 JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G DMGDH dimethylglycine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 3:27,789,089...27,857,348
Ensembl chr 3:27,790,324...27,856,601 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr20:57,440,698...57,442,588 JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr14:43,308,274...43,351,999
Ensembl chr14:43,308,152...43,396,487 		JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214 		JBrowse link
G GCAT glycine C-acetyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr10:26,821,121...26,827,496
Ensembl chr10:26,821,027...26,827,707 		JBrowse link
G GLDC glycine decarboxylase ISO SMPDB SMP:00223 SMP:00485 NCBI chr11:27,491,639...27,584,450
Ensembl chr11:27,414,834...27,584,450 		JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00223 SMP:00485 NCBI chr20:37,462,651...37,495,581
Ensembl chr20:37,462,659...37,465,807 		JBrowse link
G GNMT glycine N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr12:11,500,363...11,503,075
Ensembl chr12:11,500,392...11,503,481 		JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00223 SMP:00485 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr17:56,806,912...56,833,765 JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 1:80,376,469...80,408,177
Ensembl chr 1:80,377,115...80,408,162 		JBrowse link
G PSPH phosphoserine phosphatase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 6:493,152...546,176
Ensembl chr 6:493,176...512,089 		JBrowse link
G SARDH sarcosine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 9:50,030,397...50,093,556
Ensembl chr 9:50,030,707...50,091,553 		JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 6:42,584,792...42,605,201
Ensembl chr 6:42,584,798...42,605,136 		JBrowse link
G SDS serine dehydratase ISO SMPDB SMP:00223 SMP:00485 NCBI chr26:10,725,123...10,728,087 JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 5:41,221,531...41,248,653
Ensembl chr 5:41,221,562...41,253,166 		JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00223 SMP:00485 NCBI chr10:1,357,347...1,362,511
Ensembl chr10:1,356,706...1,362,305 		JBrowse link
G SRR serine racemase ISO SMPDB SMP:00223 SMP:00485
ocular nonnephropathic cystinosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARS1 cysteinyl-tRNA synthetase 1 ISO SMPDB SMP:00722 NCBI chr18:46,959,743...47,007,521
Ensembl chr18:46,959,743...47,007,460 		JBrowse link
G CDO1 cysteine dioxygenase type 1 ISO SMPDB SMP:00722 NCBI chr11:5,512,996...5,524,556
Ensembl chr11:5,371,378...5,524,562 		JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00722 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter ISO SMPDB SMP:00722 NCBI chr 9:47,474,488...47,490,951
Ensembl chr 9:47,473,901...47,490,252 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00722 NCBI chr12:20,999,815...21,047,779
Ensembl chr12:21,000,792...21,047,779 		JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00722 NCBI chr 6:55,204,602...55,244,217 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00722 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579 		JBrowse link
G MPST mercaptopyruvate sulfurtransferase ISO SMPDB SMP:00722 NCBI chr10:27,465,007...27,469,788
Ensembl chr10:27,443,865...27,469,554 		JBrowse link
ornithine carbamoyltransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00205 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305 		JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00205 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00205 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00205 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697 		JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00205 NCBI chr10:722,105...737,857
Ensembl chr10:722,202...737,753 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00205 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00205 NCBI chr 2:57,968,833...57,994,219
Ensembl chr 2:57,968,833...57,994,218 		JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00205 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156 		JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00205 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00205 NCBI chr10:64,482,840...64,508,288
Ensembl chr10:64,483,060...64,505,747 		JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00205 NCBI chr 1:109,150,205...109,161,375
Ensembl chr 1:109,150,205...109,161,141 		JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00205 NCBI chr36:16,185,011...16,391,080
Ensembl chr36:16,185,649...16,483,016 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00205 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054 		JBrowse link
ornithine translocase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00506 NCBI chr 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540 		JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00506 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305 		JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00506 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00506 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00506 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697 		JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00506 NCBI chr26:18,032,663...18,057,277
Ensembl chr26:18,033,392...18,057,238 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00506 NCBI chr38:14,754,628...14,823,626
Ensembl chr38:14,754,632...14,823,621 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00506 NCBI chr20:57,440,698...57,442,588 JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00506 NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00506 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00506 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579 		JBrowse link
G LOC100855552 creatine kinase B-type ISO SMPDB SMP:00506 NCBI chr 8:71,284,104...71,287,379 JBrowse link
G LOC477562 proline dehydrogenase 1, mitochondrial ISO SMPDB SMP:00506 NCBI chr26:29,039,007...29,059,722 JBrowse link
G NOS1 nitric oxide synthase 1 ISO SMPDB SMP:00506 NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332 		JBrowse link
G OAT ornithine aminotransferase ISO SMPDB SMP:00506 NCBI chr28:33,763,661...33,788,817
Ensembl chr28:33,758,473...33,788,759 		JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00506 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595 		JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00506 NCBI chr21:23,991,474...24,033,086
Ensembl chr21:23,991,469...24,032,642 		JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00506 NCBI chr 7:38,902,705...38,905,924 JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00506 NCBI chr12:46,993,787...47,047,295
Ensembl chr12:46,992,959...47,047,240 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00506 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054 		JBrowse link
orotic aciduria 1 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00219 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635 		JBrowse link
G CANT1 calcium activated nucleotidase 1 ISO SMPDB SMP:00219 NCBI chr 9:2,428,107...2,460,097 JBrowse link
G CDA cytidine deaminase ISO SMPDB SMP:00219 NCBI chr 2:78,305,328...78,327,229
Ensembl chr 2:78,304,726...78,327,247 		JBrowse link
G CMPK2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00219 NCBI chr17:4,466,615...4,478,546 JBrowse link
G CTPS1 CTP synthase 1 ISO SMPDB SMP:00219 NCBI chr15:2,067,767...2,093,014
Ensembl chr15:2,067,763...2,093,014 		JBrowse link
G DCTD dCMP deaminase ISO SMPDB SMP:00219 NCBI chr16:47,350,493...47,376,184
Ensembl chr16:47,350,357...47,375,127
Ensembl chr16:47,350,357...47,375,127 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00219 NCBI chr 5:77,756,411...77,766,207
Ensembl chr 5:77,756,407...77,774,090 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO SMPDB SMP:00219 NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923 		JBrowse link
G DPYS dihydropyrimidinase ISO SMPDB SMP:00219 NCBI chr13:5,583,795...5,659,355
Ensembl chr13:5,583,801...5,659,463 		JBrowse link
G DUT deoxyuridine triphosphatase ISO SMPDB SMP:00219 NCBI chr30:14,572,766...14,585,621
Ensembl chr30:14,572,602...14,585,530 		JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00219 NCBI chr 1:85,506,598...85,586,212
Ensembl chr 1:85,444,917...85,586,163 		JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00219 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163 		JBrowse link
G LOC480491 GTP:AMP phosphotransferase AK3, mitochondrial ISO SMPDB SMP:00219 NCBI chr 9:10,282,452...10,283,479 JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00219 NCBI chr20:40,769,394...40,778,802
Ensembl chr20:40,769,501...40,776,496 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00219 NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00219 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00219 NCBI chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934 		JBrowse link
G TK1 thymidine kinase 1 ISO SMPDB SMP:00219 NCBI chr 9:2,959,450...2,970,908
Ensembl chr 9:2,959,488...2,971,064 		JBrowse link
G TYMS thymidylate synthetase ISO SMPDB SMP:00219 NCBI chr 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747 		JBrowse link
G UCKL1 uridine-cytidine kinase 1 like 1 ISO SMPDB SMP:00219 NCBI chr24:47,412,520...47,423,222
Ensembl chr24:47,412,521...47,432,860 		JBrowse link
G UMPS uridine monophosphate synthetase ISO SMPDB SMP:00219 NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514 		JBrowse link
G UPB1 beta-ureidopropionase 1 ISO SMPDB SMP:00219 NCBI chr26:28,194,968...28,225,977
Ensembl chr26:28,195,081...28,225,567 		JBrowse link
phenylketonuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00206 NCBI chr 3:57,300,422...57,326,546
Ensembl chr 3:57,300,441...57,326,486 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00206 NCBI chr20:49,258,827...49,267,279
Ensembl chr20:49,258,845...49,267,198 		JBrowse link
G FARSB phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00206 NCBI chr37:28,647,114...28,716,193
Ensembl chr37:28,647,115...28,716,198 		JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00206 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579 		JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00206 NCBI chr 8:50,133,496...50,143,487
Ensembl chr 8:50,133,714...50,143,439 		JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00206 NCBI chr33:24,066,099...24,107,827
Ensembl chr33:24,066,306...24,151,354 		JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00206 NCBI chr26:7,430,891...7,440,643
Ensembl chr26:7,430,933...7,440,611 		JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00206 NCBI chr 1:106,636,282...106,673,438
Ensembl chr 1:106,657,477...106,673,422 		JBrowse link
G PAH phenylalanine hydroxylase ISO SMPDB SMP:00206 NCBI chr15:41,590,253...41,670,156
Ensembl chr15:41,592,876...41,670,837 		JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00206 NCBI chr 5:77,365,589...77,378,474
Ensembl chr 5:77,366,138...77,378,419 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00206 NCBI chr 2:68,535,402...68,566,197
Ensembl chr 2:68,535,447...68,565,439 		JBrowse link
phosphoenolpyruvate carboxykinase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BPGM bisphosphoglycerate mutase ISO SMPDB SMP:00560 NCBI chr16:13,386,021...13,418,248
Ensembl chr16:13,365,566...13,418,432 		JBrowse link
G ENO1 enolase 1 ISO SMPDB SMP:00560 NCBI chr 5:62,300,805...62,314,508
Ensembl chr 5:62,300,808...62,304,093 		JBrowse link
G FBP1 fructose-bisphosphatase 1 ISO SMPDB SMP:00560 NCBI chr 1:72,099,886...72,125,266
Ensembl chr 1:72,099,881...72,125,224 		JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00560 NCBI chr 9:20,132,973...20,143,642
Ensembl chr 9:20,132,978...20,143,642 		JBrowse link
G GALM galactose mutarotase ISO SMPDB SMP:00560 NCBI chr17:30,741,990...30,793,456
Ensembl chr17:30,742,127...30,792,465 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00560 NCBI chr27:38,468,889...38,472,653
Ensembl chr27:38,468,889...38,472,385 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO SMPDB SMP:00560 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316 		JBrowse link
G HK2 hexokinase 2 ISO SMPDB SMP:00560 NCBI chr17:48,287,367...48,329,470
Ensembl chr17:48,289,272...48,348,663 		JBrowse link
G LOC102157295 atherin ISO SMPDB SMP:00560 NCBI chr 6:18,069,839...18,077,265 JBrowse link
G MDH2 malate dehydrogenase 2 ISO SMPDB SMP:00560 NCBI chr 6:7,389,266...7,405,311 JBrowse link
G MPC1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00560 NCBI chr 1:54,379,195...54,395,697 JBrowse link
G PANK1 pantothenate kinase 1 ISO SMPDB SMP:00560 NCBI chr28:4,476,920...4,534,501 JBrowse link
G PC pyruvate carboxylase ISO SMPDB SMP:00560 NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00560 NCBI chr24:42,538,858...42,544,200
Ensembl chr24:42,538,882...42,544,198 		JBrowse link
G PGAM1 phosphoglycerate mutase 1 ISO SMPDB SMP:00560 NCBI chr28:10,720,235...10,727,709
Ensembl chr28:10,720,094...10,930,286 		JBrowse link
G PGAM2 phosphoglycerate mutase 2 ISO SMPDB SMP:00560
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00560 NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622 		JBrowse link
G SLC25A11 solute carrier family 25 member 11 ISO SMPDB SMP:00560 NCBI chr 5:31,676,826...31,680,138
Ensembl chr 5:31,675,740...31,679,933 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 ISO SMPDB SMP:00560 NCBI chr34:35,368,583...35,398,197
Ensembl chr34:35,370,192...35,400,409 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO SMPDB SMP:00560 NCBI chr 5:14,823,485...14,830,007
Ensembl chr 5:14,823,499...14,830,004 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO SMPDB SMP:00560 NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137 		JBrowse link
primary hyperoxaluria type 1 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 ISO SMPDB SMP:00352 NCBI chr 5:76,288,780...76,343,262
Ensembl chr 5:76,288,782...76,343,207 		JBrowse link
G AARS2 alanyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00352 NCBI chr12:12,706,043...12,718,821
Ensembl chr12:12,704,983...12,718,821 		JBrowse link
G AGXT alanine--glyoxylate and serine--pyruvate aminotransferase ISO SMPDB SMP:00352 NCBI chr25:50,968,291...50,976,089 JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00352 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156 		JBrowse link
G PC pyruvate carboxylase ISO SMPDB SMP:00352 NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669 		JBrowse link
primary hyperoxaluria type 2 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACACA acetyl-CoA carboxylase alpha ISO SMPDB SMP:00558 NCBI chr 9:36,904,204...37,188,096
Ensembl chr 9:36,905,293...37,187,892 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00558 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ACOT12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00558 NCBI chr 3:25,928,356...25,979,688
Ensembl chr 3:25,928,394...25,971,378 		JBrowse link
G ACSS2 acyl-CoA synthetase short chain family member 2 ISO SMPDB SMP:00558 NCBI chr24:23,928,800...23,973,383
Ensembl chr24:23,928,838...23,972,651 		JBrowse link
G ACYP1 acylphosphatase 1 ISO SMPDB SMP:00558 NCBI chr 8:48,155,415...48,169,211
Ensembl chr 8:48,155,412...48,169,261 		JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00558 NCBI chr14:2,991,888...3,006,941
Ensembl chr14:2,991,888...3,006,940 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00558 NCBI chr26:9,319,109...9,361,021 JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00558 NCBI chr 5:21,062,833...21,094,235
Ensembl chr 5:21,064,026...21,094,153 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00558 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G GLO1 glyoxalase I ISO SMPDB SMP:00558 NCBI chr12:7,584,141...7,609,615
Ensembl chr12:7,585,531...7,609,550 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00558 NCBI chr11:53,748,389...53,759,692
Ensembl chr11:53,748,414...53,759,693 		JBrowse link
G HAGH hydroxyacylglutathione hydrolase ISO SMPDB SMP:00558 NCBI chr 6:39,076,364...39,105,646
Ensembl chr 6:39,084,513...39,105,592 		JBrowse link
G LDHD lactate dehydrogenase D ISO SMPDB SMP:00558 NCBI chr 5:75,566,495...75,591,093
Ensembl chr 5:75,587,012...75,591,373 		JBrowse link
G MDH1 malate dehydrogenase 1 ISO SMPDB SMP:00558 NCBI chr10:63,316,818...63,334,556
Ensembl chr10:63,316,831...63,361,735 		JBrowse link
G ME1 malic enzyme 1 ISO SMPDB SMP:00558 NCBI chr12:43,623,413...43,793,590
Ensembl chr12:43,624,945...43,828,775 		JBrowse link
G ME2 malic enzyme 2 ISO SMPDB SMP:00558 NCBI chr 1:23,985,482...24,032,642
Ensembl chr 1:23,985,994...24,025,747 		JBrowse link
G PC pyruvate carboxylase ISO SMPDB SMP:00558 NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00558 NCBI chr24:42,538,858...42,544,200
Ensembl chr24:42,538,882...42,544,198 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00558 NCBI chr  X:15,338,364...15,354,011
Ensembl chr  X:15,338,202...15,387,458 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00558 NCBI chr20:32,185,420...32,191,592 JBrowse link
G PKLR pyruvate kinase L/R ISO SMPDB SMP:00558 NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755 		JBrowse link
prolidase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00207 NCBI chr 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540 		JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00207 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305 		JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00207 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00207 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00207 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697 		JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00207 NCBI chr26:18,032,663...18,057,277
Ensembl chr26:18,033,392...18,057,238 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00207 NCBI chr38:14,754,628...14,823,626
Ensembl chr38:14,754,632...14,823,621 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00207 NCBI chr20:57,440,698...57,442,588 JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00207 NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00207 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00207 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579 		JBrowse link
G LOC100855552 creatine kinase B-type ISO SMPDB SMP:00207 NCBI chr 8:71,284,104...71,287,379 JBrowse link
G LOC477562 proline dehydrogenase 1, mitochondrial ISO SMPDB SMP:00207 NCBI chr26:29,039,007...29,059,722 JBrowse link
G NOS1 nitric oxide synthase 1 ISO SMPDB SMP:00207 NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332 		JBrowse link
G OAT ornithine aminotransferase ISO SMPDB SMP:00207 NCBI chr28:33,763,661...33,788,817
Ensembl chr28:33,758,473...33,788,759 		JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00207 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595 		JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00207 NCBI chr21:23,991,474...24,033,086
Ensembl chr21:23,991,469...24,032,642 		JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00207 NCBI chr 7:38,902,705...38,905,924 JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00207 NCBI chr12:46,993,787...47,047,295
Ensembl chr12:46,992,959...47,047,240 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00207 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054 		JBrowse link
propionic acidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00236 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00236 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00236 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00236 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00236 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00236 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00236 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00236 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00236 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283 		JBrowse link
G AOX2 aldehyde oxidase 2 ISO SMPDB SMP:00236 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00236 NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471 		JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00236 NCBI chr27:22,536,297...22,643,350
Ensembl chr27:22,535,254...22,636,959 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00236 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00236 NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802 		JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00236 NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00236 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00236 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00236 NCBI chr14:40,672,294...40,780,608
Ensembl chr14:40,673,008...40,780,516 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00236 NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00236 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00236 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00236 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00236 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00236 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00236 NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273 		JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00236 NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830 		JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00236 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897 		JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00236 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00236 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00236 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366 		JBrowse link
purine nucleoside phosphorylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO SMPDB SMP:00210 NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160 		JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00210 NCBI chr 7:30,576,445...30,660,926
Ensembl chr 7:30,577,591...30,660,926 		JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00210 NCBI chr10:24,813,854...24,832,115 JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00210 NCBI chr 7:35,440,250...35,477,470
Ensembl chr 7:35,440,676...35,476,795 		JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00210 NCBI chr 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132 		JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00210 NCBI chr17:52,377,411...52,399,525
Ensembl chr17:52,377,402...52,399,520 		JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00210 NCBI chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00210 NCBI chr26:37,749,799...37,811,490
Ensembl chr26:37,750,649...37,794,149 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00210 NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697 		JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00210 NCBI chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782 		JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00210 NCBI chr 8:47,193,463...47,245,865
Ensembl chr 8:47,196,439...47,229,964 		JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00210 NCBI chr 9:48,301,499...48,306,210
Ensembl chr 9:48,303,206...48,305,992 		JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00210 NCBI chr 1:85,506,598...85,586,212
Ensembl chr 1:85,444,917...85,586,163 		JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00210 NCBI chr35:15,400,937...15,449,157
Ensembl chr35:15,401,003...15,448,022 		JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00210 NCBI chr23:49,569,571...49,645,999
Ensembl chr23:49,569,531...49,699,199 		JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00210 NCBI chr 5:25,291,019...25,718,918
Ensembl chr 5:25,291,583...25,686,947 		JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00210 NCBI chr15:53,266,243...53,312,109
Ensembl chr15:53,265,350...53,312,111 		JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00210 NCBI chr14:820,048...826,694
Ensembl chr14:820,093...827,250 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00210 NCBI chr  X:105,115,732...105,153,702
Ensembl chr  X:105,115,732...105,153,702 		JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00210 NCBI chr14:8,001,575...8,013,181
Ensembl chr14:7,996,717...8,012,467 		JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00210 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163 		JBrowse link
G LOC100687127 thioredoxin-like ISO SMPDB SMP:00210 NCBI chr  X:82,986,288...82,986,753 JBrowse link
G LOC487740 trifunctional purine biosynthetic protein adenosine-3 ISO SMPDB SMP:00210 NCBI chr31:29,032,399...29,063,706 JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00210 NCBI chr20:40,769,394...40,778,802
Ensembl chr20:40,769,501...40,776,496 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00210 NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235 		JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00210 NCBI chr11:51,049,992...51,064,317
Ensembl chr11:51,050,053...51,064,178 		JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00210 NCBI chr 2:24,239,632...24,266,763
Ensembl chr 2:24,239,627...24,264,469 		JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00210 NCBI chr13:48,296,232...48,682,650 JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00210 NCBI chr 1:53,457,781...54,049,735
Ensembl chr 1:53,462,979...53,801,966 		JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00210 NCBI chr 2:45,843,767...47,245,263
Ensembl chr 2:45,846,294...46,949,912 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00210 NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287 		JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00210 NCBI chr15:17,808,454...17,815,987
Ensembl chr15:17,808,461...17,815,676 		JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00210 NCBI chr13:48,618,460...48,656,164
Ensembl chr13:48,620,714...48,655,780 		JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00210 NCBI chr21:26,595,838...26,631,476
Ensembl chr21:26,595,914...26,631,135 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00210 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939 		JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00210 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935 		JBrowse link
pyruvate carboxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 ISO SMPDB SMP:00350 NCBI chr 5:76,288,780...76,343,262
Ensembl chr 5:76,288,782...76,343,207 		JBrowse link
G AARS2 alanyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00350 NCBI chr12:12,706,043...12,718,821
Ensembl chr12:12,704,983...12,718,821 		JBrowse link
G AGXT alanine--glyoxylate and serine--pyruvate aminotransferase ISO SMPDB SMP:00350 NCBI chr25:50,968,291...50,976,089 JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00350 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156 		JBrowse link
G PC pyruvate carboxylase ISO SMPDB SMP:00350 NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669 		JBrowse link
pyruvate decarboxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACACA acetyl-CoA carboxylase alpha ISO SMPDB SMP:00212 NCBI chr 9:36,904,204...37,188,096
Ensembl chr 9:36,905,293...37,187,892 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00212 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ACOT12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00212 NCBI chr 3:25,928,356...25,979,688
Ensembl chr 3:25,928,394...25,971,378 		JBrowse link
G ACSS2 acyl-CoA synthetase short chain family member 2 ISO SMPDB SMP:00212 NCBI chr24:23,928,800...23,973,383
Ensembl chr24:23,928,838...23,972,651 		JBrowse link
G ACYP1 acylphosphatase 1 ISO SMPDB SMP:00212 NCBI chr 8:48,155,415...48,169,211
Ensembl chr 8:48,155,412...48,169,261 		JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00212 NCBI chr14:2,991,888...3,006,941
Ensembl chr14:2,991,888...3,006,940 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00212 NCBI chr26:9,319,109...9,361,021 JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00212 NCBI chr 5:21,062,833...21,094,235
Ensembl chr 5:21,064,026...21,094,153 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00212 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G GLO1 glyoxalase I ISO SMPDB SMP:00212 NCBI chr12:7,584,141...7,609,615
Ensembl chr12:7,585,531...7,609,550 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00212 NCBI chr11:53,748,389...53,759,692
Ensembl chr11:53,748,414...53,759,693 		JBrowse link
G HAGH hydroxyacylglutathione hydrolase ISO SMPDB SMP:00212 NCBI chr 6:39,076,364...39,105,646
Ensembl chr 6:39,084,513...39,105,592 		JBrowse link
G LDHD lactate dehydrogenase D ISO SMPDB SMP:00212 NCBI chr 5:75,566,495...75,591,093
Ensembl chr 5:75,587,012...75,591,373 		JBrowse link
G MDH1 malate dehydrogenase 1 ISO SMPDB SMP:00212 NCBI chr10:63,316,818...63,334,556
Ensembl chr10:63,316,831...63,361,735 		JBrowse link
G ME1 malic enzyme 1 ISO SMPDB SMP:00212 NCBI chr12:43,623,413...43,793,590
Ensembl chr12:43,624,945...43,828,775 		JBrowse link
G ME2 malic enzyme 2 ISO SMPDB SMP:00212 NCBI chr 1:23,985,482...24,032,642
Ensembl chr 1:23,985,994...24,025,747 		JBrowse link
G PC pyruvate carboxylase ISO SMPDB SMP:00212 NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00212 NCBI chr24:42,538,858...42,544,200
Ensembl chr24:42,538,882...42,544,198 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00212 NCBI chr  X:15,338,364...15,354,011
Ensembl chr  X:15,338,202...15,387,458 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00212 NCBI chr20:32,185,420...32,191,592 JBrowse link
G PKLR pyruvate kinase L/R ISO SMPDB SMP:00212 NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755 		JBrowse link
pyruvate dehydrogenase E1 deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACACA acetyl-CoA carboxylase alpha ISO SMPDB SMP:00334 NCBI chr 9:36,904,204...37,188,096
Ensembl chr 9:36,905,293...37,187,892 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00334 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ACOT12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00334 NCBI chr 3:25,928,356...25,979,688
Ensembl chr 3:25,928,394...25,971,378 		JBrowse link
G ACSS2 acyl-CoA synthetase short chain family member 2 ISO SMPDB SMP:00334 NCBI chr24:23,928,800...23,973,383
Ensembl chr24:23,928,838...23,972,651 		JBrowse link
G ACYP1 acylphosphatase 1 ISO SMPDB SMP:00334 NCBI chr 8:48,155,415...48,169,211
Ensembl chr 8:48,155,412...48,169,261 		JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00334 NCBI chr14:2,991,888...3,006,941
Ensembl chr14:2,991,888...3,006,940 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00334 NCBI chr26:9,319,109...9,361,021 JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00334 NCBI chr 5:21,062,833...21,094,235
Ensembl chr 5:21,064,026...21,094,153 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00334 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G GLO1 glyoxalase I ISO SMPDB SMP:00334 NCBI chr12:7,584,141...7,609,615
Ensembl chr12:7,585,531...7,609,550 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00334 NCBI chr11:53,748,389...53,759,692
Ensembl chr11:53,748,414...53,759,693 		JBrowse link
G HAGH hydroxyacylglutathione hydrolase ISO SMPDB SMP:00334 NCBI chr 6:39,076,364...39,105,646
Ensembl chr 6:39,084,513...39,105,592 		JBrowse link
G LDHD lactate dehydrogenase D ISO SMPDB SMP:00334 NCBI chr 5:75,566,495...75,591,093
Ensembl chr 5:75,587,012...75,591,373 		JBrowse link
G MDH1 malate dehydrogenase 1 ISO SMPDB SMP:00334 NCBI chr10:63,316,818...63,334,556
Ensembl chr10:63,316,831...63,361,735 		JBrowse link
G ME1 malic enzyme 1 ISO SMPDB SMP:00334 NCBI chr12:43,623,413...43,793,590
Ensembl chr12:43,624,945...43,828,775 		JBrowse link
G ME2 malic enzyme 2 ISO SMPDB SMP:00334 NCBI chr 1:23,985,482...24,032,642
Ensembl chr 1:23,985,994...24,025,747 		JBrowse link
G PC pyruvate carboxylase ISO SMPDB SMP:00334 NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00334 NCBI chr24:42,538,858...42,544,200
Ensembl chr24:42,538,882...42,544,198 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00334 NCBI chr  X:15,338,364...15,354,011
Ensembl chr  X:15,338,202...15,387,458 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00334 NCBI chr20:32,185,420...32,191,592 JBrowse link
G PKLR pyruvate kinase L/R ISO SMPDB SMP:00334 NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755 		JBrowse link
pyruvate dehydrogenase E2 deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACO2 aconitase 2 ISO SMPDB SMP:00551 NCBI chr10:23,742,284...23,798,580
Ensembl chr10:23,742,333...23,798,498 		JBrowse link
G CS citrate synthase ISO SMPDB SMP:00551 NCBI chr10:584,000...611,351
Ensembl chr10:584,904...611,436 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00551 NCBI chr 5:21,062,833...21,094,235
Ensembl chr 5:21,064,026...21,094,153 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00551 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00551 NCBI chr 8:48,003,730...48,025,001
Ensembl chr 8:48,002,211...48,024,999 		JBrowse link
G FH fumarate hydratase ISO SMPDB SMP:00551 NCBI chr 7:32,900,250...32,927,436
Ensembl chr 7:32,901,586...32,927,412 		JBrowse link
G IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO SMPDB SMP:00551 NCBI chr 3:58,301,982...58,318,925
Ensembl chr 3:58,302,001...58,318,248 		JBrowse link
G IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO SMPDB SMP:00551 NCBI chr24:18,556,437...18,561,399
Ensembl chr24:18,556,508...18,561,391 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO SMPDB SMP:00551 NCBI chr  X:121,599,368...121,608,707
Ensembl chr  X:121,599,368...121,608,643 		JBrowse link
G MDH2 malate dehydrogenase 2 ISO SMPDB SMP:00551 NCBI chr 6:7,389,266...7,405,311 JBrowse link
G MPC1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00551 NCBI chr 1:54,379,195...54,395,697 JBrowse link
G OGDH oxoglutarate dehydrogenase ISO SMPDB SMP:00551
G PC pyruvate carboxylase ISO SMPDB SMP:00551 NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00551 NCBI chr  X:15,338,364...15,354,011
Ensembl chr  X:15,338,202...15,387,458 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00551 NCBI chr20:32,185,420...32,191,592 JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO SMPDB SMP:00551 NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO SMPDB SMP:00551 NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO SMPDB SMP:00551 NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO SMPDB SMP:00551 NCBI chr 5:21,030,295...21,041,125 JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO SMPDB SMP:00551 NCBI chr17:40,392,969...40,424,875
Ensembl chr17:40,393,178...40,424,711 		JBrowse link
G SUCLG2 succinate-CoA ligase GDP-forming subunit beta ISO SMPDB SMP:00551 NCBI chr20:23,915,149...24,167,740
Ensembl chr20:23,895,802...24,182,869 		JBrowse link
pyruvate dehydrogenase E3 deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACO2 aconitase 2 ISO SMPDB SMP:00550 NCBI chr10:23,742,284...23,798,580
Ensembl chr10:23,742,333...23,798,498 		JBrowse link
G CS citrate synthase ISO SMPDB SMP:00550 NCBI chr10:584,000...611,351
Ensembl chr10:584,904...611,436 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00550 NCBI chr 5:21,062,833...21,094,235
Ensembl chr 5:21,064,026...21,094,153 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00550 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00550 NCBI chr 8:48,003,730...48,025,001
Ensembl chr 8:48,002,211...48,024,999 		JBrowse link
G FH fumarate hydratase ISO SMPDB SMP:00550 NCBI chr 7:32,900,250...32,927,436
Ensembl chr 7:32,901,586...32,927,412 		JBrowse link
G IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO SMPDB SMP:00550 NCBI chr 3:58,301,982...58,318,925
Ensembl chr 3:58,302,001...58,318,248 		JBrowse link
G IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO SMPDB SMP:00550 NCBI chr24:18,556,437...18,561,399
Ensembl chr24:18,556,508...18,561,391 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO SMPDB SMP:00550 NCBI chr  X:121,599,368...121,608,707
Ensembl chr  X:121,599,368...121,608,643 		JBrowse link
G MDH2 malate dehydrogenase 2 ISO SMPDB SMP:00550 NCBI chr 6:7,389,266...7,405,311 JBrowse link
G MPC1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00550 NCBI chr 1:54,379,195...54,395,697 JBrowse link
G OGDH oxoglutarate dehydrogenase ISO SMPDB SMP:00550
G PC pyruvate carboxylase ISO SMPDB SMP:00550 NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00550 NCBI chr  X:15,338,364...15,354,011
Ensembl chr  X:15,338,202...15,387,458 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00550 NCBI chr20:32,185,420...32,191,592 JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO SMPDB SMP:00550 NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO SMPDB SMP:00550 NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO SMPDB SMP:00550 NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO SMPDB SMP:00550 NCBI chr 5:21,030,295...21,041,125 JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO SMPDB SMP:00550 NCBI chr17:40,392,969...40,424,875
Ensembl chr17:40,393,178...40,424,711 		JBrowse link
G SUCLG2 succinate-CoA ligase GDP-forming subunit beta ISO SMPDB SMP:00550 NCBI chr20:23,915,149...24,167,740
Ensembl chr20:23,895,802...24,182,869 		JBrowse link
pyruvate kinase deficiency of red cells pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACACA acetyl-CoA carboxylase alpha ISO SMPDB SMP:00559 NCBI chr 9:36,904,204...37,188,096
Ensembl chr 9:36,905,293...37,187,892 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00559 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ACOT12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00559 NCBI chr 3:25,928,356...25,979,688
Ensembl chr 3:25,928,394...25,971,378 		JBrowse link
G ACSS2 acyl-CoA synthetase short chain family member 2 ISO SMPDB SMP:00559 NCBI chr24:23,928,800...23,973,383
Ensembl chr24:23,928,838...23,972,651 		JBrowse link
G ACYP1 acylphosphatase 1 ISO SMPDB SMP:00559 NCBI chr 8:48,155,415...48,169,211
Ensembl chr 8:48,155,412...48,169,261 		JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00559 NCBI chr14:2,991,888...3,006,941
Ensembl chr14:2,991,888...3,006,940 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00559 NCBI chr26:9,319,109...9,361,021 JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00559 NCBI chr 5:21,062,833...21,094,235
Ensembl chr 5:21,064,026...21,094,153 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00559 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G GLO1 glyoxalase I ISO SMPDB SMP:00559 NCBI chr12:7,584,141...7,609,615
Ensembl chr12:7,585,531...7,609,550 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00559 NCBI chr11:53,748,389...53,759,692
Ensembl chr11:53,748,414...53,759,693 		JBrowse link
G HAGH hydroxyacylglutathione hydrolase ISO SMPDB SMP:00559 NCBI chr 6:39,076,364...39,105,646
Ensembl chr 6:39,084,513...39,105,592 		JBrowse link
G LDHD lactate dehydrogenase D ISO SMPDB SMP:00559 NCBI chr 5:75,566,495...75,591,093
Ensembl chr 5:75,587,012...75,591,373 		JBrowse link
G MDH1 malate dehydrogenase 1 ISO SMPDB SMP:00559 NCBI chr10:63,316,818...63,334,556
Ensembl chr10:63,316,831...63,361,735 		JBrowse link
G ME1 malic enzyme 1 ISO SMPDB SMP:00559 NCBI chr12:43,623,413...43,793,590
Ensembl chr12:43,624,945...43,828,775 		JBrowse link
G ME2 malic enzyme 2 ISO SMPDB SMP:00559 NCBI chr 1:23,985,482...24,032,642
Ensembl chr 1:23,985,994...24,025,747 		JBrowse link
G PC pyruvate carboxylase ISO SMPDB SMP:00559 NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00559 NCBI chr24:42,538,858...42,544,200
Ensembl chr24:42,538,882...42,544,198 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00559 NCBI chr  X:15,338,364...15,354,011
Ensembl chr  X:15,338,202...15,387,458 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00559 NCBI chr20:32,185,420...32,191,592 JBrowse link
G PKLR pyruvate kinase L/R ISO SMPDB SMP:00559 NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755 		JBrowse link
Refsum disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO SMPDB SMP:00451 NCBI chr  X:121,545,690...121,564,117
Ensembl chr  X:121,545,586...121,563,186 		JBrowse link
G ABCD2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00451 NCBI chr27:14,015,093...14,084,362
Ensembl chr27:14,015,091...14,163,312 		JBrowse link
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 ISO SMPDB SMP:00451 NCBI chr 5:40,515,768...40,641,377
Ensembl chr 5:40,515,030...40,641,463 		JBrowse link
G LOC478000 phytanoyl-CoA hydroxylase-like ISO SMPDB SMP:00451 NCBI chr 2:23,185,901...23,206,719
Ensembl chr 2:23,185,782...23,253,497 		JBrowse link
G LOC608697 2-hydroxyacyl-CoA lyase 1 ISO SMPDB SMP:00451 NCBI chr23:27,069,676...27,188,247 JBrowse link
G SLC27A2 solute carrier family 27 member 2 ISO SMPDB SMP:00451 NCBI chr30:16,155,932...16,196,919
Ensembl chr30:16,156,063...16,196,829 		JBrowse link
ribose 5-phosphate isomerase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DERA deoxyribose-phosphate aldolase ISO SMPDB SMP:00519 NCBI chr27:30,675,225...30,741,202
Ensembl chr27:30,675,247...30,817,388 		JBrowse link
G FBP1 fructose-bisphosphatase 1 ISO SMPDB SMP:00519 NCBI chr 1:72,099,886...72,125,266
Ensembl chr 1:72,099,881...72,125,224 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO SMPDB SMP:00519 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO SMPDB SMP:00519 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316 		JBrowse link
G LOC102157295 atherin ISO SMPDB SMP:00519 NCBI chr 6:18,069,839...18,077,265 JBrowse link
G PFKL phosphofructokinase, liver type ISO SMPDB SMP:00519 NCBI chr31:38,153,638...38,178,741
Ensembl chr31:38,156,451...38,178,507 		JBrowse link
G PGD phosphogluconate dehydrogenase ISO SMPDB SMP:00519 NCBI chr 2:85,393,526...85,408,714
Ensembl chr 2:85,393,819...85,408,272 		JBrowse link
G PGLS 6-phosphogluconolactonase ISO SMPDB SMP:00519 NCBI chr20:45,293,970...45,301,074
Ensembl chr20:45,294,008...45,301,038 		JBrowse link
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00519 NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622 		JBrowse link
G RBKS ribokinase ISO SMPDB SMP:00519 NCBI chr17:21,793,882...21,944,839
Ensembl chr17:21,795,203...21,944,805 		JBrowse link
G RPE ribulose-5-phosphate-3-epimerase ISO SMPDB SMP:00519 NCBI chr37:17,866,729...17,882,702 JBrowse link
G RPIA ribose 5-phosphate isomerase A ISO SMPDB SMP:00519 NCBI chr17:37,640,740...37,671,308 JBrowse link
G TALDO1 transaldolase 1 ISO SMPDB SMP:00519 NCBI chr18:25,764,138...25,772,043 JBrowse link
G TKT transketolase ISO SMPDB SMP:00519 NCBI chr20:36,690,540...36,705,980
Ensembl chr20:36,681,531...36,742,199 		JBrowse link
saccharopinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AADAT aminoadipate aminotransferase ISO SMPDB SMP:00239 SMP:00528 NCBI chr25:20,920,118...20,944,251
Ensembl chr25:20,920,139...20,945,387 		JBrowse link
G AASS aminoadipate-semialdehyde synthase ISO SMPDB SMP:00239 SMP:00528 NCBI chr14:59,950,123...59,993,457
Ensembl chr14:59,951,216...60,000,212 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00239 SMP:00528 NCBI chr11:15,828,581...15,878,556
Ensembl chr11:15,815,936...15,878,516 		JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chr 2:24,298,323...24,349,848
Ensembl chr 2:24,299,789...24,349,899 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00239 SMP:00528 NCBI chr 8:48,003,730...48,025,001
Ensembl chr 8:48,002,211...48,024,999 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849 		JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chr32:28,460,445...28,506,141
Ensembl chr32:28,460,193...28,531,280 		JBrowse link
G PIPOX pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00239 SMP:00528 NCBI chr 9:43,200,343...43,212,288
Ensembl chr 9:43,200,371...43,212,288 		JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO SMPDB SMP:00239 SMP:00528 NCBI chr 2:36,286,080...36,287,619
Ensembl chr 2:36,286,584...36,287,489 		JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO SMPDB SMP:00239 SMP:00528 NCBI chr16:40,855,270...40,879,956
Ensembl chr16:40,745,458...40,875,106 		JBrowse link
sarcosinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate and serine--pyruvate aminotransferase ISO SMPDB SMP:00244 NCBI chr25:50,968,291...50,976,089 JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00244 NCBI chr20:37,552,813...37,566,417
Ensembl chr20:37,552,814...37,566,638 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00244 NCBI chr26:9,319,109...9,361,021 JBrowse link
G AMT aminomethyltransferase ISO SMPDB SMP:00244 NCBI chr20:39,815,449...39,820,907
Ensembl chr20:39,815,814...39,820,506 		JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00244 NCBI chr 3:27,732,381...27,752,168
Ensembl chr 3:27,734,108...27,752,046 		JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00244 NCBI chr31:37,230,900...37,247,170 JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00244 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00244 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G DMGDH dimethylglycine dehydrogenase ISO SMPDB SMP:00244 NCBI chr 3:27,789,089...27,857,348
Ensembl chr 3:27,790,324...27,856,601 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00244 NCBI chr20:57,440,698...57,442,588 JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00244 NCBI chr14:43,308,274...43,351,999
Ensembl chr14:43,308,152...43,396,487 		JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00244 NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214 		JBrowse link
G GCAT glycine C-acetyltransferase ISO SMPDB SMP:00244 NCBI chr10:26,821,121...26,827,496
Ensembl chr10:26,821,027...26,827,707 		JBrowse link
G GLDC glycine decarboxylase ISO SMPDB SMP:00244 NCBI chr11:27,491,639...27,584,450
Ensembl chr11:27,414,834...27,584,450 		JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00244 NCBI chr20:37,462,651...37,495,581
Ensembl chr20:37,462,659...37,465,807 		JBrowse link
G GNMT glycine N-methyltransferase ISO SMPDB SMP:00244 NCBI chr12:11,500,363...11,503,075
Ensembl chr12:11,500,392...11,503,481 		JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00244 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO SMPDB SMP:00244 NCBI chr17:56,806,912...56,833,765 JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00244 NCBI chr 1:80,376,469...80,408,177
Ensembl chr 1:80,377,115...80,408,162 		JBrowse link
G PSPH phosphoserine phosphatase ISO SMPDB SMP:00244 NCBI chr 6:493,152...546,176
Ensembl chr 6:493,176...512,089 		JBrowse link
G SARDH sarcosine dehydrogenase ISO SMPDB SMP:00244 NCBI chr 9:50,030,397...50,093,556
Ensembl chr 9:50,030,707...50,091,553 		JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00244 NCBI chr 6:42,584,792...42,605,201
Ensembl chr 6:42,584,798...42,605,136 		JBrowse link
G SDS serine dehydratase ISO SMPDB SMP:00244 NCBI chr26:10,725,123...10,728,087 JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00244 NCBI chr 5:41,221,531...41,248,653
Ensembl chr 5:41,221,562...41,253,166 		JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00244 NCBI chr10:1,357,347...1,362,511
Ensembl chr10:1,356,706...1,362,305 		JBrowse link
G SRR serine racemase ISO SMPDB SMP:00244
short-chain acyl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00235 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00235 NCBI chr37:18,028,244...18,073,975
Ensembl chr37:18,017,087...18,073,862 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00235 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00235 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00235 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00235 NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00235 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00235 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00235 NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00235 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00235 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00235 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00235 NCBI chr17:20,307,207...20,355,659
Ensembl chr17:20,307,226...20,355,508 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00235 NCBI chr17:20,355,778...20,399,869 JBrowse link
sialic acid storage disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMDHD2 amidohydrolase domain containing 2 ISO SMPDB SMP:00240 NCBI chr 6:38,509,793...38,519,711 JBrowse link
G CMAS cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00240 NCBI chr27:25,097,907...25,117,003
Ensembl chr27:25,098,091...25,116,965 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00240 NCBI chr10:68,067,817...68,125,001
Ensembl chr10:68,073,062...68,125,007 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00240 NCBI chr11:52,688,295...52,731,160
Ensembl chr11:52,689,343...52,731,231 		JBrowse link
G GNPDA1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00240 NCBI chr 2:36,938,682...36,949,657
Ensembl chr 2:36,939,750...36,948,966 		JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00240 NCBI chr 8:28,992,173...29,005,511
Ensembl chr 8:28,993,227...29,005,435 		JBrowse link
G HEXA hexosaminidase subunit alpha ISO SMPDB SMP:00240 NCBI chr30:35,836,788...35,862,525 JBrowse link
G HK1 hexokinase 1 ISO SMPDB SMP:00240 NCBI chr 4:20,396,761...20,516,889
Ensembl chr 4:20,421,526...20,518,211 		JBrowse link
G NAGK N-acetylglucosamine kinase ISO SMPDB SMP:00240 NCBI chr17:51,367,477...51,376,461 JBrowse link
G NANP N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00240 NCBI chr23:1,757,963...1,776,758 JBrowse link
G NANS N-acetylneuraminate synthase ISO SMPDB SMP:00240 NCBI chr11:55,286,290...55,310,904
Ensembl chr11:55,243,854...55,350,194 		JBrowse link
G NPL N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00240 NCBI chr 7:16,186,693...16,226,658
Ensembl chr 7:16,192,005...16,224,033 		JBrowse link
G PGM3 phosphoglucomutase 3 ISO SMPDB SMP:00240 NCBI chr12:43,582,472...43,611,583
Ensembl chr12:43,584,940...43,611,777 		JBrowse link
G RENBP renin binding protein ISO SMPDB SMP:00240 NCBI chr  X:121,782,411...121,788,928
Ensembl chr  X:121,727,573...121,788,860 		JBrowse link
G SLC17A5 solute carrier family 17 member 5 ISO SMPDB SMP:00240 NCBI chr12:35,648,349...35,683,115
Ensembl chr12:35,649,376...35,683,534 		JBrowse link
G UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00240 NCBI chr38:20,190,026...20,228,353
Ensembl chr38:20,190,375...20,277,923 		JBrowse link
Smith-Lemli-Opitz Syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00389 NCBI chr 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327 		JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00389 NCBI chr14:17,746,654...17,767,019
Ensembl chr14:17,746,656...17,766,658 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00389 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921 		JBrowse link
G EBP cholestenol delta-isomerase ISO SMPDB SMP:00389 NCBI chr  X:41,774,857...41,779,474
Ensembl chr  X:41,762,692...41,779,476 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00389 NCBI chr25:26,060,031...26,093,515
Ensembl chr25:26,060,386...26,093,582 		JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00389 NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225 		JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00389 NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00389 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294 		JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00389 NCBI chr 4:66,633,706...66,654,005
Ensembl chr 4:66,633,572...66,652,196 		JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00389 NCBI chr38:19,975,935...19,999,077
Ensembl chr38:19,977,086...19,999,010 		JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00389 NCBI chr 2:33,927,759...33,930,651 JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00389 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436 		JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00389 NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042 		JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00389 NCBI chr15:61,293,769...61,307,285
Ensembl chr  X:8,144,335...8,145,216
Ensembl chr15:8,144,335...8,145,216 		JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00389 NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073 		JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00389 NCBI chr26:17,497,516...17,519,015
Ensembl chr26:17,497,513...17,519,385 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO SMPDB SMP:00389 NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143 		JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00389 NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625 		JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00389 NCBI chr 5:12,760,591...12,774,484
Ensembl chr 5:12,763,286...12,775,393 		JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00389 NCBI chr 7:20,481,386...20,556,706
Ensembl chr 7:20,486,069...20,546,055 		JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00389 NCBI chr13:22,994,010...23,018,134
Ensembl chr13:22,993,862...23,017,978 		JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00389 NCBI chr18:52,079,367...52,083,762
Ensembl chr18:52,079,425...52,085,390 		JBrowse link
succinic semialdehyde dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00243 SMP:00567 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540 		JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr35:22,560,005...22,590,996
Ensembl chr35:22,560,008...22,587,875 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00243 SMP:00567 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697 		JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00243 SMP:00567 NCBI chr 6:22,276,189...22,299,865
Ensembl chr 6:22,276,230...22,297,428 		JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr36:15,351,289...15,391,701
Ensembl chr36:15,349,683...15,391,824 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00243 SMP:00567 NCBI chr12:20,999,815...21,047,779
Ensembl chr12:21,000,792...21,047,779 		JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00243 SMP:00567 NCBI chr 6:55,204,602...55,244,217 JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr10:68,067,817...68,125,001
Ensembl chr10:68,073,062...68,125,007 		JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00243 SMP:00567 NCBI chr10:722,105...737,857
Ensembl chr10:722,202...737,753 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GLUL glutamate-ammonia ligase ISO SMPDB SMP:00243 SMP:00567 NCBI chr 7:15,730,898...15,740,241
Ensembl chr 7:15,730,898...15,740,241 		JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00243 SMP:00567 NCBI chr23:49,569,571...49,645,999
Ensembl chr23:49,569,531...49,699,199 		JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr 8:28,992,173...29,005,511
Ensembl chr 8:28,993,227...29,005,435 		JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00243 SMP:00567 NCBI chr 2:57,968,833...57,994,219
Ensembl chr 2:57,968,833...57,994,218 		JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00243 SMP:00567 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156 		JBrowse link
G GSR glutathione-disulfide reductase ISO SMPDB SMP:00243 SMP:00567 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752 		JBrowse link
G GSS glutathione synthetase ISO SMPDB SMP:00243 SMP:00567 NCBI chr24:23,973,807...24,000,281
Ensembl chr24:23,901,045...23,997,286 		JBrowse link
G NADSYN1 NAD synthetase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr18:47,216,547...47,254,582
Ensembl chr18:47,216,577...47,254,514 		JBrowse link
G NAGK N-acetylglucosamine kinase ISO SMPDB SMP:00243 SMP:00567 NCBI chr17:51,367,477...51,376,461 JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00243 SMP:00567 NCBI chr13:48,618,460...48,656,164
Ensembl chr13:48,620,714...48,655,780 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00243 SMP:00567 NCBI chr20:40,077,856...40,085,100
Ensembl chr20:40,078,163...40,085,099 		JBrowse link
sulfite oxidase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO SMPDB SMP:00532 NCBI chr38:14,834,642...14,857,242
Ensembl chr38:14,834,643...14,857,227 		JBrowse link
G CHST11 carbohydrate sulfotransferase 11 ISO SMPDB SMP:00532 NCBI chr10:33,555,629...33,810,808
Ensembl chr10:33,555,628...33,810,558 		JBrowse link
G LOC482182 sulfotransferase 1E1 ISO SMPDB SMP:00532 NCBI chr13:59,323,430...59,343,745 JBrowse link
G PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO SMPDB SMP:00532 NCBI chr26:37,725,205...37,745,103
Ensembl chr26:37,725,616...37,743,928 		JBrowse link
G SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 ISO SMPDB SMP:00532 NCBI chr 6:18,176,156...18,179,492
Ensembl chr 6:18,176,355...18,179,489 		JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 ISO SMPDB SMP:00532 NCBI chr 1:107,705,568...107,721,160
Ensembl chr 1:107,705,576...107,720,876 		JBrowse link
G SUOX sulfite oxidase ISO SMPDB SMP:00532 NCBI chr10:327,656...331,826
Ensembl chr10:327,671...331,825 		JBrowse link
Tay-Sachs disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMDHD2 amidohydrolase domain containing 2 ISO SMPDB SMP:00390 NCBI chr 6:38,509,793...38,519,711 JBrowse link
G CMAS cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00390 NCBI chr27:25,097,907...25,117,003
Ensembl chr27:25,098,091...25,116,965 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00390 NCBI chr10:68,067,817...68,125,001
Ensembl chr10:68,073,062...68,125,007 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00390 NCBI chr11:52,688,295...52,731,160
Ensembl chr11:52,689,343...52,731,231 		JBrowse link
G GNPDA1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00390 NCBI chr 2:36,938,682...36,949,657
Ensembl chr 2:36,939,750...36,948,966 		JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00390 NCBI chr 8:28,992,173...29,005,511
Ensembl chr 8:28,993,227...29,005,435 		JBrowse link
G HEXA hexosaminidase subunit alpha ISO SMPDB SMP:00390 NCBI chr30:35,836,788...35,862,525 JBrowse link
G HK1 hexokinase 1 ISO SMPDB SMP:00390 NCBI chr 4:20,396,761...20,516,889
Ensembl chr 4:20,421,526...20,518,211 		JBrowse link
G NAGK N-acetylglucosamine kinase ISO SMPDB SMP:00390 NCBI chr17:51,367,477...51,376,461 JBrowse link
G NANP N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00390 NCBI chr23:1,757,963...1,776,758 JBrowse link
G NANS N-acetylneuraminate synthase ISO SMPDB SMP:00390 NCBI chr11:55,286,290...55,310,904
Ensembl chr11:55,243,854...55,350,194 		JBrowse link
G NPL N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00390 NCBI chr 7:16,186,693...16,226,658
Ensembl chr 7:16,192,005...16,224,033 		JBrowse link
G PGM3 phosphoglucomutase 3 ISO SMPDB SMP:00390 NCBI chr12:43,582,472...43,611,583
Ensembl chr12:43,584,940...43,611,777 		JBrowse link
G RENBP renin binding protein ISO SMPDB SMP:00390 NCBI chr  X:121,782,411...121,788,928
Ensembl chr  X:121,727,573...121,788,860 		JBrowse link
G SLC17A5 solute carrier family 17 member 5 ISO SMPDB SMP:00390 NCBI chr12:35,648,349...35,683,115
Ensembl chr12:35,649,376...35,683,534 		JBrowse link
G UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00390 NCBI chr38:20,190,026...20,228,353
Ensembl chr38:20,190,375...20,277,923 		JBrowse link
transaldolase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DERA deoxyribose-phosphate aldolase ISO SMPDB SMP:00520 NCBI chr27:30,675,225...30,741,202
Ensembl chr27:30,675,247...30,817,388 		JBrowse link
G FBP1 fructose-bisphosphatase 1 ISO SMPDB SMP:00520 NCBI chr 1:72,099,886...72,125,266
Ensembl chr 1:72,099,881...72,125,224 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO SMPDB SMP:00520 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO SMPDB SMP:00520 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316 		JBrowse link
G LOC102157295 atherin ISO SMPDB SMP:00520 NCBI chr 6:18,069,839...18,077,265 JBrowse link
G PFKL phosphofructokinase, liver type ISO SMPDB SMP:00520 NCBI chr31:38,153,638...38,178,741
Ensembl chr31:38,156,451...38,178,507 		JBrowse link
G PGD phosphogluconate dehydrogenase ISO SMPDB SMP:00520 NCBI chr 2:85,393,526...85,408,714
Ensembl chr 2:85,393,819...85,408,272 		JBrowse link
G PGLS 6-phosphogluconolactonase ISO SMPDB SMP:00520 NCBI chr20:45,293,970...45,301,074
Ensembl chr20:45,294,008...45,301,038 		JBrowse link
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00520 NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622 		JBrowse link
G RBKS ribokinase ISO SMPDB SMP:00520 NCBI chr17:21,793,882...21,944,839
Ensembl chr17:21,795,203...21,944,805 		JBrowse link
G RPE ribulose-5-phosphate-3-epimerase ISO SMPDB SMP:00520 NCBI chr37:17,866,729...17,882,702 JBrowse link
G RPIA ribose 5-phosphate isomerase A ISO SMPDB SMP:00520 NCBI chr17:37,640,740...37,671,308 JBrowse link
G TALDO1 transaldolase 1 ISO SMPDB SMP:00520 NCBI chr18:25,764,138...25,772,043 JBrowse link
G TKT transketolase ISO SMPDB SMP:00520 NCBI chr20:36,690,540...36,705,980
Ensembl chr20:36,681,531...36,742,199 		JBrowse link
trifunctional protein deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00545 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00545 NCBI chr37:18,028,244...18,073,975
Ensembl chr37:18,017,087...18,073,862 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00545 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00545 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00545 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00545 NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00545 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00545 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00545 NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00545 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00545 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00545 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00545 NCBI chr17:20,307,207...20,355,659
Ensembl chr17:20,307,226...20,355,508 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00545 NCBI chr17:20,355,778...20,399,869 JBrowse link
triosephosphate isomerase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BPGM bisphosphoglycerate mutase ISO SMPDB SMP:00563 NCBI chr16:13,386,021...13,418,248
Ensembl chr16:13,365,566...13,418,432 		JBrowse link
G ENO1 enolase 1 ISO SMPDB SMP:00563 NCBI chr 5:62,300,805...62,314,508
Ensembl chr 5:62,300,808...62,304,093 		JBrowse link
G FBP1 fructose-bisphosphatase 1 ISO SMPDB SMP:00563 NCBI chr 1:72,099,886...72,125,266
Ensembl chr 1:72,099,881...72,125,224 		JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00563 NCBI chr 9:20,132,973...20,143,642
Ensembl chr 9:20,132,978...20,143,642 		JBrowse link
G GALM galactose mutarotase ISO SMPDB SMP:00563 NCBI chr17:30,741,990...30,793,456
Ensembl chr17:30,742,127...30,792,465 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00563 NCBI chr27:38,468,889...38,472,653
Ensembl chr27:38,468,889...38,472,385 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO SMPDB SMP:00563 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316 		JBrowse link
G HK2 hexokinase 2 ISO SMPDB SMP:00563 NCBI chr17:48,287,367...48,329,470
Ensembl chr17:48,289,272...48,348,663 		JBrowse link
G LOC102157295 atherin ISO SMPDB SMP:00563 NCBI chr 6:18,069,839...18,077,265 JBrowse link
G MDH2 malate dehydrogenase 2 ISO SMPDB SMP:00563 NCBI chr 6:7,389,266...7,405,311 JBrowse link
G MPC1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00563 NCBI chr 1:54,379,195...54,395,697 JBrowse link
G PANK1 pantothenate kinase 1 ISO SMPDB SMP:00563 NCBI chr28:4,476,920...4,534,501 JBrowse link
G PC pyruvate carboxylase ISO SMPDB SMP:00563 NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00563 NCBI chr24:42,538,858...42,544,200
Ensembl chr24:42,538,882...42,544,198 		JBrowse link
G PGAM1 phosphoglycerate mutase 1 ISO SMPDB SMP:00563 NCBI chr28:10,720,235...10,727,709
Ensembl chr28:10,720,094...10,930,286 		JBrowse link
G PGAM2 phosphoglycerate mutase 2 ISO SMPDB SMP:00563
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00563 NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622 		JBrowse link
G SLC25A11 solute carrier family 25 member 11 ISO SMPDB SMP:00563 NCBI chr 5:31,676,826...31,680,138
Ensembl chr 5:31,675,740...31,679,933 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 ISO SMPDB SMP:00563 NCBI chr34:35,368,583...35,398,197
Ensembl chr34:35,370,192...35,400,409 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO SMPDB SMP:00563 NCBI chr 5:14,823,485...14,830,007
Ensembl chr 5:14,823,499...14,830,004 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO SMPDB SMP:00563 NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137 		JBrowse link
tyrosinemia type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00218 NCBI chr 5:40,466,237...40,474,272
Ensembl chr 5:40,466,237...40,474,457 		JBrowse link
G AOC1 amine oxidase copper containing 1 ISO SMPDB SMP:00218 NCBI chr16:14,955,528...14,963,283
Ensembl chr16:14,958,658...15,036,651 		JBrowse link
G COMT catechol-O-methyltransferase ISO SMPDB SMP:00218 NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008 		JBrowse link
G DBH dopamine beta-hydroxylase ISO SMPDB SMP:00218 NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130 		JBrowse link
G DCT dopachrome tautomerase ISO SMPDB SMP:00218 NCBI chr22:45,271,709...45,305,272
Ensembl chr22:45,271,709...45,305,346 		JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00218 NCBI chr18:1,802,239...1,876,714
Ensembl chr18:1,803,273...1,867,616 		JBrowse link
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00218 NCBI chr 3:57,300,422...57,326,546
Ensembl chr 3:57,300,441...57,326,486 		JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00218 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579 		JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00218 NCBI chr 8:50,133,496...50,143,487
Ensembl chr 8:50,133,714...50,143,439 		JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00218 NCBI chr10:45,368,157...45,379,521
Ensembl chr10:45,368,178...45,379,160 		JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00218 NCBI chr33:24,066,099...24,107,827
Ensembl chr33:24,066,306...24,151,354 		JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00218 NCBI chr26:7,430,891...7,440,643
Ensembl chr26:7,430,933...7,440,611 		JBrowse link
G LOC100856533 alcohol dehydrogenase E chain ISO SMPDB SMP:00218 NCBI chr32:21,422,428...21,437,058 JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00218 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757 		JBrowse link
G MIF macrophage migration inhibitory factor ISO SMPDB SMP:00218
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00218 NCBI chr 9:22,808,505...22,810,587
Ensembl chr 9:22,808,601...22,810,551 		JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00218 NCBI chr 5:77,365,589...77,378,474
Ensembl chr 5:77,366,138...77,378,419 		JBrowse link
G TYR tyrosinase ISO SMPDB SMP:00218 NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
tyrosinemia type II pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00369 NCBI chr 3:57,300,422...57,326,546
Ensembl chr 3:57,300,441...57,326,486 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00369 NCBI chr20:49,258,827...49,267,279
Ensembl chr20:49,258,845...49,267,198 		JBrowse link
G FARSB phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00369 NCBI chr37:28,647,114...28,716,193
Ensembl chr37:28,647,115...28,716,198 		JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00369 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579 		JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00369 NCBI chr 8:50,133,496...50,143,487
Ensembl chr 8:50,133,714...50,143,439 		JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00369 NCBI chr33:24,066,099...24,107,827
Ensembl chr33:24,066,306...24,151,354 		JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00369 NCBI chr26:7,430,891...7,440,643
Ensembl chr26:7,430,933...7,440,611 		JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00369 NCBI chr 1:106,636,282...106,673,438
Ensembl chr 1:106,657,477...106,673,422 		JBrowse link
G PAH phenylalanine hydroxylase ISO SMPDB SMP:00369 NCBI chr15:41,590,253...41,670,156
Ensembl chr15:41,592,876...41,670,837 		JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00369 NCBI chr 5:77,365,589...77,378,474
Ensembl chr 5:77,366,138...77,378,419 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00369 NCBI chr 2:68,535,402...68,566,197
Ensembl chr 2:68,535,447...68,565,439 		JBrowse link
tyrosinemia type III pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 ISO SMPDB SMP:00434 NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727 		JBrowse link
G ABCC1 ATP binding cassette subfamily C member 1 ISO SMPDB SMP:00434 NCBI chr 6:27,855,702...27,950,140
Ensembl chr 6:27,855,702...27,989,331 		JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 ISO SMPDB SMP:00434 NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740 		JBrowse link
G ABCG2 ATP binding cassette subfamily G member 2 ISO SMPDB SMP:00434 NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674 		JBrowse link
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00370 NCBI chr 3:57,300,422...57,326,546
Ensembl chr 3:57,300,441...57,326,486 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00370 NCBI chr20:49,258,827...49,267,279
Ensembl chr20:49,258,845...49,267,198 		JBrowse link
G FARSB phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00370 NCBI chr37:28,647,114...28,716,193
Ensembl chr37:28,647,115...28,716,198 		JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00370 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579 		JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00370 NCBI chr 8:50,133,496...50,143,487
Ensembl chr 8:50,133,714...50,143,439 		JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00370 NCBI chr33:24,066,099...24,107,827
Ensembl chr33:24,066,306...24,151,354 		JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00370 NCBI chr26:7,430,891...7,440,643
Ensembl chr26:7,430,933...7,440,611 		JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00370 NCBI chr 1:106,636,282...106,673,438
Ensembl chr 1:106,657,477...106,673,422 		JBrowse link
G LOC106557476 tubulin alpha-1A chain ISO SMPDB SMP:00434 NCBI chr27:5,407,906...5,412,265
Ensembl chr27:5,407,906...5,463,809 		JBrowse link
G PAH phenylalanine hydroxylase ISO SMPDB SMP:00370 NCBI chr15:41,590,253...41,670,156
Ensembl chr15:41,592,876...41,670,837 		JBrowse link
G SLCO1B2 solute carrier organic anion transporter family member 1B2 ISO SMPDB SMP:00434 NCBI chr27:26,411,008...26,496,174
Ensembl chr27:26,411,010...26,470,989 		JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00370 NCBI chr 5:77,365,589...77,378,474
Ensembl chr 5:77,366,138...77,378,419 		JBrowse link
G TUBB1 tubulin beta 1 class VI ISO SMPDB SMP:00434 NCBI chr24:43,759,078...43,768,556
Ensembl chr24:43,759,555...43,771,737 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00370 NCBI chr 2:68,535,402...68,566,197
Ensembl chr 2:68,535,447...68,565,439 		JBrowse link
variegate porphyria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAD aminolevulinate dehydratase ISO SMPDB SMP:00346 NCBI chr11:67,736,643...67,752,399
Ensembl chr11:67,741,390...67,752,321 		JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00346 NCBI chr20:37,552,813...37,566,417
Ensembl chr20:37,552,814...37,566,638 		JBrowse link
G BLVRA biliverdin reductase A ISO SMPDB SMP:00346 NCBI chr18:6,424,833...6,506,399
Ensembl chr18:6,426,255...6,495,647 		JBrowse link
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO SMPDB SMP:00346 NCBI chr 5:37,853,495...37,982,228
Ensembl chr 5:37,852,875...37,982,243 		JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 ISO SMPDB SMP:00346 NCBI chr28:12,609,690...12,625,467
Ensembl chr28:12,610,401...12,624,087 		JBrowse link
G CPOX coproporphyrinogen oxidase ISO SMPDB SMP:00346 NCBI chr33:5,446,022...5,459,152
Ensembl chr33:5,447,414...5,459,461 		JBrowse link
G FECH ferrochelatase ISO SMPDB SMP:00346 NCBI chr 1:18,352,184...18,384,251
Ensembl chr 1:18,345,811...18,383,092 		JBrowse link
G GUSB glucuronidase beta ISO SMPDB SMP:00346 NCBI chr 6:730,345...743,916
Ensembl chr 6:730,358...779,424 		JBrowse link
G HMBS hydroxymethylbilane synthase ISO SMPDB SMP:00346 NCBI chr 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082 		JBrowse link
G HMOX1 heme oxygenase 1 ISO SMPDB SMP:00346 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
G LOC608550 ferritin heavy chain-like ISO SMPDB SMP:00346 NCBI chr11:11,512,268...11,513,672 JBrowse link
G PPOX protoporphyrinogen oxidase ISO SMPDB SMP:00346 NCBI chr38:21,306,973...21,310,892
Ensembl chr38:21,306,974...21,311,012 		JBrowse link
G UROD uroporphyrinogen decarboxylase ISO SMPDB SMP:00346 NCBI chr15:15,313,808...15,317,130
Ensembl chr15:15,312,674...15,320,010 		JBrowse link
G UROS uroporphyrinogen III synthase ISO SMPDB SMP:00346 NCBI chr28:34,952,074...34,983,532
Ensembl chr28:34,948,003...34,983,532 		JBrowse link
very long-chain acyl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00540 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00540 NCBI chr37:18,028,244...18,073,975
Ensembl chr37:18,017,087...18,073,862 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00540 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00540 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00540 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00540 NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00540 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00540 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00540 NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00540 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00540 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00540 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00540 NCBI chr17:20,307,207...20,355,659
Ensembl chr17:20,307,226...20,355,508 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00540 NCBI chr17:20,355,778...20,399,869 JBrowse link
Wolman disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327 		JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr14:17,746,654...17,767,019
Ensembl chr14:17,746,656...17,766,658 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921 		JBrowse link
G EBP cholestenol delta-isomerase ISO SMPDB SMP:00319 SMP:00511 NCBI chr  X:41,774,857...41,779,474
Ensembl chr  X:41,762,692...41,779,476 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr25:26,060,031...26,093,515
Ensembl chr25:26,060,386...26,093,582 		JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225 		JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294 		JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 4:66,633,706...66,654,005
Ensembl chr 4:66,633,572...66,652,196 		JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00319 SMP:00511 NCBI chr38:19,975,935...19,999,077
Ensembl chr38:19,977,086...19,999,010 		JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 2:33,927,759...33,930,651 JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00319 SMP:00511 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436 		JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042 		JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr15:61,293,769...61,307,285
Ensembl chr  X:8,144,335...8,145,216
Ensembl chr15:8,144,335...8,145,216 		JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073 		JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chr26:17,497,516...17,519,015
Ensembl chr26:17,497,513...17,519,385 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO SMPDB SMP:00319 SMP:00511 NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143 		JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625 		JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 5:12,760,591...12,774,484
Ensembl chr 5:12,763,286...12,775,393 		JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 7:20,481,386...20,556,706
Ensembl chr 7:20,486,069...20,546,055 		JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00319 SMP:00511 NCBI chr13:22,994,010...23,018,134
Ensembl chr13:22,993,862...23,017,978 		JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00319 SMP:00511 NCBI chr18:52,079,367...52,083,762
Ensembl chr18:52,079,425...52,085,390 		JBrowse link
X-linked dominant chondrodysplasia punctata 2 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00388 NCBI chr 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327 		JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00388 NCBI chr14:17,746,654...17,767,019
Ensembl chr14:17,746,656...17,766,658 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00388 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921 		JBrowse link
G EBP cholestenol delta-isomerase ISO SMPDB SMP:00388 NCBI chr  X:41,774,857...41,779,474
Ensembl chr  X:41,762,692...41,779,476 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00388 NCBI chr25:26,060,031...26,093,515
Ensembl chr25:26,060,386...26,093,582 		JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00388 NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225 		JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00388 NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00388 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294 		JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00388 NCBI chr 4:66,633,706...66,654,005
Ensembl chr 4:66,633,572...66,652,196 		JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00388 NCBI chr38:19,975,935...19,999,077
Ensembl chr38:19,977,086...19,999,010 		JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00388 NCBI chr 2:33,927,759...33,930,651 JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00388 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436 		JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00388 NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042 		JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00388 NCBI chr15:61,293,769...61,307,285
Ensembl chr  X:8,144,335...8,145,216
Ensembl chr15:8,144,335...8,145,216 		JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00388 NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073 		JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00388 NCBI chr26:17,497,516...17,519,015
Ensembl chr26:17,497,513...17,519,385 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO SMPDB SMP:00388 NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143 		JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00388 NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625 		JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00388 NCBI chr 5:12,760,591...12,774,484
Ensembl chr 5:12,763,286...12,775,393 		JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00388 NCBI chr 7:20,481,386...20,556,706
Ensembl chr 7:20,486,069...20,546,055 		JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00388 NCBI chr13:22,994,010...23,018,134
Ensembl chr13:22,993,862...23,017,978 		JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00388 NCBI chr18:52,079,367...52,083,762
Ensembl chr18:52,079,425...52,085,390 		JBrowse link
xanthinuria type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO SMPDB SMP:00512 NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160 		JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00512 NCBI chr 7:30,576,445...30,660,926
Ensembl chr 7:30,577,591...30,660,926 		JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00512 NCBI chr10:24,813,854...24,832,115 JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00512 NCBI chr 7:35,440,250...35,477,470
Ensembl chr 7:35,440,676...35,476,795 		JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00512 NCBI chr 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132 		JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00512 NCBI chr17:52,377,411...52,399,525
Ensembl chr17:52,377,402...52,399,520 		JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00512 NCBI chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00512 NCBI chr26:37,749,799...37,811,490
Ensembl chr26:37,750,649...37,794,149 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00512 NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697 		JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00512 NCBI chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782 		JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00512 NCBI chr 8:47,193,463...47,245,865
Ensembl chr 8:47,196,439...47,229,964 		JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00512 NCBI chr 9:48,301,499...48,306,210
Ensembl chr 9:48,303,206...48,305,992 		JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00512 NCBI chr 1:85,506,598...85,586,212
Ensembl chr 1:85,444,917...85,586,163 		JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00512 NCBI chr35:15,400,937...15,449,157
Ensembl chr35:15,401,003...15,448,022 		JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00512 NCBI chr23:49,569,571...49,645,999
Ensembl chr23:49,569,531...49,699,199 		JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00512 NCBI chr 5:25,291,019...25,718,918
Ensembl chr 5:25,291,583...25,686,947 		JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00512 NCBI chr15:53,266,243...53,312,109
Ensembl chr15:53,265,350...53,312,111 		JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00512 NCBI chr14:820,048...826,694
Ensembl chr14:820,093...827,250 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00512 NCBI chr  X:105,115,732...105,153,702
Ensembl chr  X:105,115,732...105,153,702 		JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00512 NCBI chr14:8,001,575...8,013,181
Ensembl chr14:7,996,717...8,012,467 		JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00512 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163 		JBrowse link
G LOC100687127 thioredoxin-like ISO SMPDB SMP:00512 NCBI chr  X:82,986,288...82,986,753 JBrowse link
G LOC487740 trifunctional purine biosynthetic protein adenosine-3 ISO SMPDB SMP:00512 NCBI chr31:29,032,399...29,063,706 JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00512 NCBI chr20:40,769,394...40,778,802
Ensembl chr20:40,769,501...40,776,496 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00512 NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235 		JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00512 NCBI chr11:51,049,992...51,064,317
Ensembl chr11:51,050,053...51,064,178 		JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00512 NCBI chr 2:24,239,632...24,266,763
Ensembl chr 2:24,239,627...24,264,469 		JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00512 NCBI chr13:48,296,232...48,682,650 JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00512 NCBI chr 1:53,457,781...54,049,735
Ensembl chr 1:53,462,979...53,801,966 		JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00512 NCBI chr 2:45,843,767...47,245,263
Ensembl chr 2:45,846,294...46,949,912 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00512 NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287 		JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00512 NCBI chr15:17,808,454...17,815,987
Ensembl chr15:17,808,461...17,815,676 		JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00512 NCBI chr13:48,618,460...48,656,164
Ensembl chr13:48,620,714...48,655,780 		JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00512 NCBI chr21:26,595,838...26,631,476
Ensembl chr21:26,595,914...26,631,135 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00512 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939 		JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00512 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935 		JBrowse link
xanthinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO SMPDB SMP:00220 NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160 		JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00220 NCBI chr 7:30,576,445...30,660,926
Ensembl chr 7:30,577,591...30,660,926 		JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00220 NCBI chr10:24,813,854...24,832,115 JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00220 NCBI chr 7:35,440,250...35,477,470
Ensembl chr 7:35,440,676...35,476,795 		JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00220 NCBI chr 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132 		JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00220 NCBI chr17:52,377,411...52,399,525
Ensembl chr17:52,377,402...52,399,520 		JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00220 NCBI chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00220 NCBI chr26:37,749,799...37,811,490
Ensembl chr26:37,750,649...37,794,149 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00220 NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697 		JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00220 NCBI chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782 		JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00220 NCBI chr 8:47,193,463...47,245,865
Ensembl chr 8:47,196,439...47,229,964 		JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00220 NCBI chr 9:48,301,499...48,306,210
Ensembl chr 9:48,303,206...48,305,992 		JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00220 NCBI chr 1:85,506,598...85,586,212
Ensembl chr 1:85,444,917...85,586,163 		JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00220 NCBI chr35:15,400,937...15,449,157
Ensembl chr35:15,401,003...15,448,022 		JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00220 NCBI chr23:49,569,571...49,645,999
Ensembl chr23:49,569,531...49,699,199 		JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00220 NCBI chr 5:25,291,019...25,718,918
Ensembl chr 5:25,291,583...25,686,947 		JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00220 NCBI chr15:53,266,243...53,312,109
Ensembl chr15:53,265,350...53,312,111 		JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00220 NCBI chr14:820,048...826,694
Ensembl chr14:820,093...827,250 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00220 NCBI chr  X:105,115,732...105,153,702
Ensembl chr  X:105,115,732...105,153,702 		JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00220 NCBI chr14:8,001,575...8,013,181
Ensembl chr14:7,996,717...8,012,467 		JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00220 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163 		JBrowse link
G LOC100687127 thioredoxin-like ISO SMPDB SMP:00220 NCBI chr  X:82,986,288...82,986,753 JBrowse link
G LOC487740 trifunctional purine biosynthetic protein adenosine-3 ISO SMPDB SMP:00220 NCBI chr31:29,032,399...29,063,706 JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00220 NCBI chr20:40,769,394...40,778,802
Ensembl chr20:40,769,501...40,776,496 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00220 NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235 		JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00220 NCBI chr11:51,049,992...51,064,317
Ensembl chr11:51,050,053...51,064,178 		JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00220 NCBI chr 2:24,239,632...24,266,763
Ensembl chr 2:24,239,627...24,264,469 		JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00220 NCBI chr13:48,296,232...48,682,650 JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00220 NCBI chr 1:53,457,781...54,049,735
Ensembl chr 1:53,462,979...53,801,966 		JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00220 NCBI chr 2:45,843,767...47,245,263
Ensembl chr 2:45,846,294...46,949,912 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00220 NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287 		JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00220 NCBI chr15:17,808,454...17,815,987
Ensembl chr15:17,808,461...17,815,676 		JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00220 NCBI chr13:48,618,460...48,656,164
Ensembl chr13:48,620,714...48,655,780 		JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00220 NCBI chr21:26,595,838...26,631,476
Ensembl chr21:26,595,914...26,631,135 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00220 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939 		JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00220 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935 		JBrowse link
xanthinuria type II pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO SMPDB SMP:00513 NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160 		JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00513 NCBI chr 7:30,576,445...30,660,926
Ensembl chr 7:30,577,591...30,660,926 		JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00513 NCBI chr10:24,813,854...24,832,115 JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00513 NCBI chr 7:35,440,250...35,477,470
Ensembl chr 7:35,440,676...35,476,795 		JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00513 NCBI chr 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132 		JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00513 NCBI chr17:52,377,411...52,399,525
Ensembl chr17:52,377,402...52,399,520 		JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00513 NCBI chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00513 NCBI chr26:37,749,799...37,811,490
Ensembl chr26:37,750,649...37,794,149 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00513 NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697 		JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00513 NCBI chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782 		JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00513 NCBI chr 8:47,193,463...47,245,865
Ensembl chr 8:47,196,439...47,229,964 		JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00513 NCBI chr 9:48,301,499...48,306,210
Ensembl chr 9:48,303,206...48,305,992 		JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00513 NCBI chr 1:85,506,598...85,586,212
Ensembl chr 1:85,444,917...85,586,163 		JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00513 NCBI chr35:15,400,937...15,449,157
Ensembl chr35:15,401,003...15,448,022 		JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00513 NCBI chr23:49,569,571...49,645,999
Ensembl chr23:49,569,531...49,699,199 		JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00513 NCBI chr 5:25,291,019...25,718,918
Ensembl chr 5:25,291,583...25,686,947 		JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00513 NCBI chr15:53,266,243...53,312,109
Ensembl chr15:53,265,350...53,312,111 		JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00513 NCBI chr14:820,048...826,694
Ensembl chr14:820,093...827,250 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00513 NCBI chr  X:105,115,732...105,153,702
Ensembl chr  X:105,115,732...105,153,702 		JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00513 NCBI chr14:8,001,575...8,013,181
Ensembl chr14:7,996,717...8,012,467 		JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00513 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163 		JBrowse link
G LOC100687127 thioredoxin-like ISO SMPDB SMP:00513 NCBI chr  X:82,986,288...82,986,753 JBrowse link
G LOC487740 trifunctional purine biosynthetic protein adenosine-3 ISO SMPDB SMP:00513 NCBI chr31:29,032,399...29,063,706 JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00513 NCBI chr20:40,769,394...40,778,802
Ensembl chr20:40,769,501...40,776,496 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00513 NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235 		JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00513 NCBI chr11:51,049,992...51,064,317
Ensembl chr11:51,050,053...51,064,178 		JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00513 NCBI chr 2:24,239,632...24,266,763
Ensembl chr 2:24,239,627...24,264,469 		JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00513 NCBI chr13:48,296,232...48,682,650 JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00513 NCBI chr 1:53,457,781...54,049,735
Ensembl chr 1:53,462,979...53,801,966 		JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00513 NCBI chr 2:45,843,767...47,245,263
Ensembl chr 2:45,846,294...46,949,912 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00513 NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287 		JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00513 NCBI chr15:17,808,454...17,815,987
Ensembl chr15:17,808,461...17,815,676 		JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00513 NCBI chr13:48,618,460...48,656,164
Ensembl chr13:48,620,714...48,655,780 		JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00513 NCBI chr21:26,595,838...26,631,476
Ensembl chr21:26,595,914...26,631,135 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00513 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939 		JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00513 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4046
    disease pathway 718
      congenital disease pathway 519
        inborn genetic disease pathway + 519
paths to the root