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PATHWAY ONTOLOGY - ANNOTATIONS

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

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



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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 EXP SMPDB SMP:00719 NCBI chr 4:170,060,222...170,091,699
Ensembl chr 4:170,060,222...170,091,699
JBrowse link
G AASS aminoadipate-semialdehyde synthase EXP SMPDB SMP:00719 NCBI chr 7:122,073,544...122,144,269
Ensembl chr 7:122,064,583...122,144,308
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00719 NCBI chr11:108,116,705...108,148,822
Ensembl chr11:108,116,695...108,147,603
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 EXP SMPDB SMP:00719 NCBI chr 5:126,541,841...126,595,219
Ensembl chr 5:126,531,200...126,595,362
JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 EXP SMPDB SMP:00719 NCBI chr10:12,068,954...12,123,221
Ensembl chr10:12,068,954...12,123,221
JBrowse link
G DLD dihydrolipoamide dehydrogenase EXP SMPDB SMP:00719 NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730
JBrowse link
G DLST dihydrolipoamide S-succinyltransferase EXP SMPDB SMP:00719 NCBI chr14:74,881,913...74,903,743
Ensembl chr14:74,881,891...74,903,743
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 EXP SMPDB SMP:00719 NCBI chr10:133,362,480...133,373,396
Ensembl chr10:133,362,485...133,373,354
JBrowse link
G GCDH glutaryl-CoA dehydrogenase EXP SMPDB SMP:00719 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase EXP SMPDB SMP:00719 NCBI chr 4:107,989,839...108,035,171
Ensembl chr 4:107,989,714...108,035,241
JBrowse link
G PIPOX pipecolic acid and sarcosine oxidase EXP SMPDB SMP:00719 NCBI chr17:29,043,141...29,057,227
Ensembl chr17:28,950,513...29,057,216
JBrowse link
G SLC25A2 solute carrier family 25 member 2 EXP SMPDB SMP:00719 NCBI chr 5:141,302,635...141,304,049
Ensembl chr 5:141,302,635...141,304,049
JBrowse link
G SLC7A2 solute carrier family 7 member 2 EXP SMPDB SMP:00719 NCBI chr 8:17,494,349...17,570,566
Ensembl chr 8:17,497,088...17,570,573
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 EXP SMPDB SMP:00136 NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 EXP SMPDB SMP:00136 NCBI chr 1:18,871,430...18,902,555
Ensembl chr 1:18,871,430...18,902,724
JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 EXP SMPDB SMP:00136 NCBI chr 6:24,494,969...24,537,207
Ensembl chr 6:24,494,867...24,537,207
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase EXP SMPDB SMP:00136 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 EXP SMPDB SMP:00136 NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial EXP SMPDB SMP:00136 NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731
JBrowse link
G GAD1 glutamate decarboxylase 1 EXP SMPDB SMP:00136 NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit EXP SMPDB SMP:00136 NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit EXP SMPDB SMP:00136 NCBI chr 1:93,885,199...93,910,370
Ensembl chr 1:93,885,199...93,909,456
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 EXP SMPDB SMP:00136 NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250
JBrowse link
G GLS2 glutaminase 2 EXP SMPDB SMP:00136 NCBI chr12:56,470,952...56,488,161
Ensembl chr12:56,470,944...56,488,414
JBrowse link
G GLUD1 glutamate dehydrogenase 1 EXP SMPDB SMP:00136 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
JBrowse link
G GLUL glutamate-ammonia ligase EXP SMPDB SMP:00136 NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206
JBrowse link
G GMPS guanine monophosphate synthase EXP SMPDB SMP:00136 NCBI chr 3:155,869,430...155,944,020
Ensembl chr 3:155,870,650...155,944,020
JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 EXP SMPDB SMP:00136 NCBI chr14:52,775,193...52,791,607
Ensembl chr14:52,775,193...52,791,668
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 EXP SMPDB SMP:00136 NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342
JBrowse link
G GPT glutamic--pyruvic transaminase EXP SMPDB SMP:00136 NCBI chr 8:144,503,068...144,507,172
Ensembl chr 8:144,502,973...144,507,174
JBrowse link
G GSR glutathione-disulfide reductase EXP SMPDB SMP:00136 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
JBrowse link
G GSS glutathione synthetase EXP SMPDB SMP:00136 NCBI chr20:34,928,432...34,956,027
Ensembl chr20:34,928,432...34,956,027
JBrowse link
G NADSYN1 NAD synthetase 1 EXP SMPDB SMP:00136 NCBI chr11:71,453,203...71,501,816
Ensembl chr11:71,453,109...71,524,107
JBrowse link
G NAGK N-acetylglucosamine kinase EXP SMPDB SMP:00136 NCBI chr 2:71,068,278...71,079,808
Ensembl chr 2:71,064,344...71,079,808
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase EXP SMPDB SMP:00136 NCBI chr 4:56,393,362...56,435,615
Ensembl chr 4:56,393,362...56,435,615
JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 EXP SMPDB SMP:00136 NCBI chr 3:49,095,932...49,104,758
Ensembl chr 3:49,095,932...49,105,130
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 EXP SMPDB SMP:00138 NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 EXP SMPDB SMP:00138 NCBI chr18:49,782,164...49,813,533
Ensembl chr18:49,782,164...49,813,953
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 EXP SMPDB SMP:00138 NCBI chr11:134,253,538...134,265,858
Ensembl chr11:134,253,548...134,265,855
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP SMPDB SMP:00138 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00138 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain EXP SMPDB SMP:00138 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00138 NCBI chr11:108,116,705...108,148,822
Ensembl chr11:108,116,695...108,147,603
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member EXP SMPDB SMP:00138 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 EXP SMPDB SMP:00138 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492
JBrowse link
G AOX1 aldehyde oxidase 1 EXP SMPDB SMP:00138 NCBI chr 2:200,585,952...200,677,064
Ensembl chr 2:200,586,014...200,677,064
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase EXP SMPDB SMP:00138 NCBI chr 9:91,213,823...91,361,945
Ensembl chr 9:91,213,815...91,361,918
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 EXP SMPDB SMP:00138 NCBI chr12:24,810,024...24,949,101
Ensembl chr12:24,810,024...24,949,101
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha EXP SMPDB SMP:00138 NCBI chr19:41,397,818...41,425,002
Ensembl chr19:41,397,808...41,425,002
JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta EXP SMPDB SMP:00138 NCBI chr 6:80,106,610...80,469,088
Ensembl chr 6:80,106,647...80,346,270
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 EXP SMPDB SMP:00138 NCBI chr 1:100,186,919...100,249,864
Ensembl chr 1:100,186,919...100,249,834
JBrowse link
G DLD dihydrolipoamide dehydrogenase EXP SMPDB SMP:00138 NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 EXP SMPDB SMP:00138 NCBI chr10:133,362,480...133,373,396
Ensembl chr10:133,362,485...133,373,354
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase EXP SMPDB SMP:00138 NCBI chr 7:27,525,440...27,662,903
Ensembl chr 7:27,525,442...27,662,883
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase EXP SMPDB SMP:00138 NCBI chr 2:190,203,920...190,319,826
Ensembl chr 2:190,189,735...190,344,193
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase EXP SMPDB SMP:00138 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 EXP SMPDB SMP:00138 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 EXP SMPDB SMP:00138 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370
JBrowse link
G IVD isovaleryl-CoA dehydrogenase EXP SMPDB SMP:00138 NCBI chr15:40,405,787...40,435,948
Ensembl chr15:40,405,485...40,435,947
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 EXP SMPDB SMP:00138 NCBI chr 3:183,015,218...183,099,587
Ensembl chr 3:183,015,218...183,116,075
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 EXP SMPDB SMP:00138 NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,579,531...71,658,706
JBrowse link
G MCEE methylmalonyl-CoA epimerase EXP SMPDB SMP:00138 NCBI chr 2:71,109,684...71,130,288
Ensembl chr 2:71,109,684...71,130,239
JBrowse link
G MMUT methylmalonyl-CoA mutase EXP SMPDB SMP:00138 NCBI chr 6:49,430,360...49,463,298
Ensembl chr 6:49,430,360...49,463,253
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 EXP SMPDB SMP:00138 NCBI chr 5:41,730,065...41,870,535
Ensembl chr 5:41,730,065...41,870,425
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha EXP SMPDB SMP:00138 NCBI chr13:100,089,020...100,530,435
Ensembl chr13:100,089,015...100,530,437
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta EXP SMPDB SMP:00138 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896
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 EXP SMPDB SMP:00568 NCBI chr18:49,782,164...49,813,533
Ensembl chr18:49,782,164...49,813,953
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain EXP SMPDB SMP:00568 NCBI chr 2:210,187,923...210,225,447
Ensembl chr 2:210,187,126...210,225,447
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00568 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00568 NCBI chr11:108,116,705...108,148,822
Ensembl chr11:108,116,695...108,147,603
JBrowse link
G ACSS3 acyl-CoA synthetase short chain family member 3 EXP SMPDB SMP:00568 NCBI chr12:81,078,037...81,261,210
Ensembl chr12:80,936,414...81,261,210
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 EXP SMPDB SMP:00568 NCBI chr10:133,362,480...133,373,396
Ensembl chr10:133,362,485...133,373,354
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase EXP SMPDB SMP:00568 NCBI chr 4:107,989,839...108,035,171
Ensembl chr 4:107,989,714...108,035,241
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 EXP SMPDB SMP:00568 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370
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 EXP SMPDB SMP:00521 SMP:00522 NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 EXP SMPDB SMP:00521 SMP:00522 NCBI chr18:49,782,164...49,813,533
Ensembl chr18:49,782,164...49,813,953
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 EXP SMPDB SMP:00521 SMP:00522 NCBI chr11:134,253,538...134,265,858
Ensembl chr11:134,253,548...134,265,855
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP SMPDB SMP:00521 SMP:00522 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00521 SMP:00522 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain EXP SMPDB SMP:00521 SMP:00522 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00521 SMP:00522 NCBI chr11:108,116,705...108,148,822
Ensembl chr11:108,116,695...108,147,603
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member EXP SMPDB SMP:00521 SMP:00522 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 EXP SMPDB SMP:00521 SMP:00522 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492
JBrowse link
G AOX1 aldehyde oxidase 1 EXP SMPDB SMP:00521 SMP:00522 NCBI chr 2:200,585,952...200,677,064
Ensembl chr 2:200,586,014...200,677,064
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase EXP SMPDB SMP:00521 SMP:00522 NCBI chr 9:91,213,823...91,361,945
Ensembl chr 9:91,213,815...91,361,918
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 EXP SMPDB SMP:00521 SMP:00522 NCBI chr12:24,810,024...24,949,101
Ensembl chr12:24,810,024...24,949,101
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha EXP SMPDB SMP:00521 SMP:00522 NCBI chr19:41,397,818...41,425,002
Ensembl chr19:41,397,808...41,425,002
JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta EXP SMPDB SMP:00521 SMP:00522 NCBI chr 6:80,106,610...80,469,088
Ensembl chr 6:80,106,647...80,346,270
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 EXP SMPDB SMP:00521 SMP:00522 NCBI chr 1:100,186,919...100,249,864
Ensembl chr 1:100,186,919...100,249,834
JBrowse link
G DLD dihydrolipoamide dehydrogenase EXP SMPDB SMP:00521 SMP:00522 NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 EXP SMPDB SMP:00521 SMP:00522 NCBI chr10:133,362,480...133,373,396
Ensembl chr10:133,362,485...133,373,354
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase EXP SMPDB SMP:00521 SMP:00522 NCBI chr 7:27,525,440...27,662,903
Ensembl chr 7:27,525,442...27,662,883
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase EXP SMPDB SMP:00521 SMP:00522 NCBI chr 2:190,203,920...190,319,826
Ensembl chr 2:190,189,735...190,344,193
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase EXP SMPDB SMP:00521 SMP:00522 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 EXP SMPDB SMP:00521 SMP:00522 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 EXP SMPDB SMP:00521 SMP:00522 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370
JBrowse link
G IVD isovaleryl-CoA dehydrogenase EXP SMPDB SMP:00521 SMP:00522 NCBI chr15:40,405,787...40,435,948
Ensembl chr15:40,405,485...40,435,947
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 EXP SMPDB SMP:00521 SMP:00522 NCBI chr 3:183,015,218...183,099,587
Ensembl chr 3:183,015,218...183,116,075
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 EXP SMPDB SMP:00521 SMP:00522 NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,579,531...71,658,706
JBrowse link
G MCEE methylmalonyl-CoA epimerase EXP SMPDB SMP:00521 SMP:00522 NCBI chr 2:71,109,684...71,130,288
Ensembl chr 2:71,109,684...71,130,239
JBrowse link
G MMUT methylmalonyl-CoA mutase EXP SMPDB SMP:00521 SMP:00522 NCBI chr 6:49,430,360...49,463,298
Ensembl chr 6:49,430,360...49,463,253
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 EXP SMPDB SMP:00521 SMP:00522 NCBI chr 5:41,730,065...41,870,535
Ensembl chr 5:41,730,065...41,870,425
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha EXP SMPDB SMP:00521 SMP:00522 NCBI chr13:100,089,020...100,530,435
Ensembl chr13:100,089,015...100,530,437
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta EXP SMPDB SMP:00521 SMP:00522 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896
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 EXP SMPDB SMP:00237 NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 EXP SMPDB SMP:00237 NCBI chr18:49,782,164...49,813,533
Ensembl chr18:49,782,164...49,813,953
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 EXP SMPDB SMP:00237 NCBI chr11:134,253,538...134,265,858
Ensembl chr11:134,253,548...134,265,855
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP SMPDB SMP:00237 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00237 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain EXP SMPDB SMP:00237 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00237 NCBI chr11:108,116,705...108,148,822
Ensembl chr11:108,116,695...108,147,603
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member EXP SMPDB SMP:00237 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 EXP SMPDB SMP:00237 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492
JBrowse link
G AOX1 aldehyde oxidase 1 EXP SMPDB SMP:00237 NCBI chr 2:200,585,952...200,677,064
Ensembl chr 2:200,586,014...200,677,064
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase EXP SMPDB SMP:00237 NCBI chr 9:91,213,823...91,361,945
Ensembl chr 9:91,213,815...91,361,918
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 EXP SMPDB SMP:00237 NCBI chr12:24,810,024...24,949,101
Ensembl chr12:24,810,024...24,949,101
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha EXP SMPDB SMP:00237 NCBI chr19:41,397,818...41,425,002
Ensembl chr19:41,397,808...41,425,002
JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta EXP SMPDB SMP:00237 NCBI chr 6:80,106,610...80,469,088
Ensembl chr 6:80,106,647...80,346,270
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 EXP SMPDB SMP:00237 NCBI chr 1:100,186,919...100,249,864
Ensembl chr 1:100,186,919...100,249,834
JBrowse link
G DLD dihydrolipoamide dehydrogenase EXP SMPDB SMP:00237 NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 EXP SMPDB SMP:00237 NCBI chr10:133,362,480...133,373,396
Ensembl chr10:133,362,485...133,373,354
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase EXP SMPDB SMP:00237 NCBI chr 7:27,525,440...27,662,903
Ensembl chr 7:27,525,442...27,662,883
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase EXP SMPDB SMP:00237 NCBI chr 2:190,203,920...190,319,826
Ensembl chr 2:190,189,735...190,344,193
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase EXP SMPDB SMP:00237 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 EXP SMPDB SMP:00237 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 EXP SMPDB SMP:00237 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370
JBrowse link
G IVD isovaleryl-CoA dehydrogenase EXP SMPDB SMP:00237 NCBI chr15:40,405,787...40,435,948
Ensembl chr15:40,405,485...40,435,947
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 EXP SMPDB SMP:00237 NCBI chr 3:183,015,218...183,099,587
Ensembl chr 3:183,015,218...183,116,075
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 EXP SMPDB SMP:00237 NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,579,531...71,658,706
JBrowse link
G MCEE methylmalonyl-CoA epimerase EXP SMPDB SMP:00237 NCBI chr 2:71,109,684...71,130,288
Ensembl chr 2:71,109,684...71,130,239
JBrowse link
G MMUT methylmalonyl-CoA mutase EXP SMPDB SMP:00237 NCBI chr 6:49,430,360...49,463,298
Ensembl chr 6:49,430,360...49,463,253
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 EXP SMPDB SMP:00237 NCBI chr 5:41,730,065...41,870,535
Ensembl chr 5:41,730,065...41,870,425
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha EXP SMPDB SMP:00237 NCBI chr13:100,089,020...100,530,435
Ensembl chr13:100,089,015...100,530,437
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta EXP SMPDB SMP:00237 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896
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 EXP SMPDB SMP:00139 NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 EXP SMPDB SMP:00139 NCBI chr18:49,782,164...49,813,533
Ensembl chr18:49,782,164...49,813,953
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 EXP SMPDB SMP:00139 NCBI chr11:134,253,538...134,265,858
Ensembl chr11:134,253,548...134,265,855
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP SMPDB SMP:00139 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00139 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain EXP SMPDB SMP:00139 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00139 NCBI chr11:108,116,705...108,148,822
Ensembl chr11:108,116,695...108,147,603
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member EXP SMPDB SMP:00139 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 EXP SMPDB SMP:00139 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492
JBrowse link
G AOX1 aldehyde oxidase 1 EXP SMPDB SMP:00139 NCBI chr 2:200,585,952...200,677,064
Ensembl chr 2:200,586,014...200,677,064
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase EXP SMPDB SMP:00139 NCBI chr 9:91,213,823...91,361,945
Ensembl chr 9:91,213,815...91,361,918
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 EXP SMPDB SMP:00139 NCBI chr12:24,810,024...24,949,101
Ensembl chr12:24,810,024...24,949,101
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha EXP SMPDB SMP:00139 NCBI chr19:41,397,818...41,425,002
Ensembl chr19:41,397,808...41,425,002
JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta EXP SMPDB SMP:00139 NCBI chr 6:80,106,610...80,469,088
Ensembl chr 6:80,106,647...80,346,270
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 EXP SMPDB SMP:00139 NCBI chr 1:100,186,919...100,249,864
Ensembl chr 1:100,186,919...100,249,834
JBrowse link
G DLD dihydrolipoamide dehydrogenase EXP SMPDB SMP:00139 NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 EXP SMPDB SMP:00139 NCBI chr10:133,362,480...133,373,396
Ensembl chr10:133,362,485...133,373,354
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase EXP SMPDB SMP:00139 NCBI chr 7:27,525,440...27,662,903
Ensembl chr 7:27,525,442...27,662,883
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase EXP SMPDB SMP:00139 NCBI chr 2:190,203,920...190,319,826
Ensembl chr 2:190,189,735...190,344,193
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase EXP SMPDB SMP:00139 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 EXP SMPDB SMP:00139 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 EXP SMPDB SMP:00139 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370
JBrowse link
G IVD isovaleryl-CoA dehydrogenase EXP SMPDB SMP:00139 NCBI chr15:40,405,787...40,435,948
Ensembl chr15:40,405,485...40,435,947
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 EXP SMPDB SMP:00139 NCBI chr 3:183,015,218...183,099,587
Ensembl chr 3:183,015,218...183,116,075
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 EXP SMPDB SMP:00139 NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,579,531...71,658,706
JBrowse link
G MCEE methylmalonyl-CoA epimerase EXP SMPDB SMP:00139 NCBI chr 2:71,109,684...71,130,288
Ensembl chr 2:71,109,684...71,130,239
JBrowse link
G MMUT methylmalonyl-CoA mutase EXP SMPDB SMP:00139 NCBI chr 6:49,430,360...49,463,298
Ensembl chr 6:49,430,360...49,463,253
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 EXP SMPDB SMP:00139 NCBI chr 5:41,730,065...41,870,535
Ensembl chr 5:41,730,065...41,870,425
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha EXP SMPDB SMP:00139 NCBI chr13:100,089,020...100,530,435
Ensembl chr13:100,089,015...100,530,437
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta EXP SMPDB SMP:00139 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896
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 EXP SMPDB SMP:00140 NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 EXP SMPDB SMP:00140 NCBI chr18:49,782,164...49,813,533
Ensembl chr18:49,782,164...49,813,953
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 EXP SMPDB SMP:00140 NCBI chr11:134,253,538...134,265,858
Ensembl chr11:134,253,548...134,265,855
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP SMPDB SMP:00140 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00140 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain EXP SMPDB SMP:00140 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00140 NCBI chr11:108,116,705...108,148,822
Ensembl chr11:108,116,695...108,147,603
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member EXP SMPDB SMP:00140 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 EXP SMPDB SMP:00140 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492
JBrowse link
G AOX1 aldehyde oxidase 1 EXP SMPDB SMP:00140 NCBI chr 2:200,585,952...200,677,064
Ensembl chr 2:200,586,014...200,677,064
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase EXP SMPDB SMP:00140 NCBI chr 9:91,213,823...91,361,945
Ensembl chr 9:91,213,815...91,361,918
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 EXP SMPDB SMP:00140 NCBI chr12:24,810,024...24,949,101
Ensembl chr12:24,810,024...24,949,101
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha EXP SMPDB SMP:00140 NCBI chr19:41,397,818...41,425,002
Ensembl chr19:41,397,808...41,425,002
JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta EXP SMPDB SMP:00140 NCBI chr 6:80,106,610...80,469,088
Ensembl chr 6:80,106,647...80,346,270
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 EXP SMPDB SMP:00140 NCBI chr 1:100,186,919...100,249,864
Ensembl chr 1:100,186,919...100,249,834
JBrowse link
G DLD dihydrolipoamide dehydrogenase EXP SMPDB SMP:00140 NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 EXP SMPDB SMP:00140 NCBI chr10:133,362,480...133,373,396
Ensembl chr10:133,362,485...133,373,354
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase EXP SMPDB SMP:00140 NCBI chr 7:27,525,440...27,662,903
Ensembl chr 7:27,525,442...27,662,883
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase EXP SMPDB SMP:00140 NCBI chr 2:190,203,920...190,319,826
Ensembl chr 2:190,189,735...190,344,193
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase EXP SMPDB SMP:00140 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 EXP SMPDB SMP:00140 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 EXP SMPDB SMP:00140 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370
JBrowse link
G IVD isovaleryl-CoA dehydrogenase EXP SMPDB SMP:00140 NCBI chr15:40,405,787...40,435,948
Ensembl chr15:40,405,485...40,435,947
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 EXP SMPDB SMP:00140 NCBI chr 3:183,015,218...183,099,587
Ensembl chr 3:183,015,218...183,116,075
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 EXP SMPDB SMP:00140 NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,579,531...71,658,706
JBrowse link
G MCEE methylmalonyl-CoA epimerase EXP SMPDB SMP:00140 NCBI chr 2:71,109,684...71,130,288
Ensembl chr 2:71,109,684...71,130,239
JBrowse link
G MMUT methylmalonyl-CoA mutase EXP SMPDB SMP:00140 NCBI chr 6:49,430,360...49,463,298
Ensembl chr 6:49,430,360...49,463,253
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 EXP SMPDB SMP:00140 NCBI chr 5:41,730,065...41,870,535
Ensembl chr 5:41,730,065...41,870,425
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha EXP SMPDB SMP:00140 NCBI chr13:100,089,020...100,530,435
Ensembl chr13:100,089,015...100,530,437
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta EXP SMPDB SMP:00140 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896
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 EXP SMPDB SMP:00344 NCBI chr 9:113,386,312...113,401,301
Ensembl chr 9:113,386,312...113,401,290
JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 EXP SMPDB SMP:00344 NCBI chr 3:52,198,083...52,214,327
Ensembl chr 3:52,198,086...52,214,327
JBrowse link
G BLVRA biliverdin reductase A EXP SMPDB SMP:00344 NCBI chr 7:43,758,122...43,807,342
Ensembl chr 7:43,758,680...43,807,342
JBrowse link
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 EXP SMPDB SMP:00344 NCBI chr17:14,069,504...14,208,677
Ensembl chr17:14,069,490...14,231,736
JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 EXP SMPDB SMP:00344 NCBI chr10:99,694,293...99,732,131
Ensembl chr10:99,710,868...99,732,127
JBrowse link
G CPOX coproporphyrinogen oxidase EXP SMPDB SMP:00344 NCBI chr 3:98,569,837...98,593,684
Ensembl chr 3:98,579,446...98,593,648
JBrowse link
G FECH ferrochelatase EXP SMPDB SMP:00344 NCBI chr18:57,544,377...57,586,708
Ensembl chr18:57,544,377...57,586,732
JBrowse link
G FTMT ferritin mitochondrial EXP SMPDB SMP:00344 NCBI chr 5:121,851,882...121,852,833
Ensembl chr 5:121,851,882...121,852,833
JBrowse link
G GUSB glucuronidase beta EXP SMPDB SMP:00344 NCBI chr 7:65,960,684...65,982,230
Ensembl chr 7:65,960,684...65,982,215
JBrowse link
G HMBS hydroxymethylbilane synthase EXP SMPDB SMP:00344 NCBI chr11:119,084,864...119,093,549
Ensembl chr11:119,084,866...119,093,549
JBrowse link
G HMOX1 heme oxygenase 1 EXP SMPDB SMP:00344 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G PPOX protoporphyrinogen oxidase EXP SMPDB SMP:00344 NCBI chr 1:161,165,824...161,178,277
Ensembl chr 1:161,166,056...161,178,013
JBrowse link
G UGT2B11 UDP glucuronosyltransferase family 2 member B11 EXP SMPDB SMP:00344 NCBI chr 4:69,199,951...69,224,980
Ensembl chr 4:69,199,951...69,214,748
JBrowse link
G UROD uroporphyrinogen decarboxylase EXP SMPDB SMP:00344 NCBI chr 1:45,012,254...45,015,575
Ensembl chr 1:45,010,950...45,015,575
JBrowse link
G UROS uroporphyrinogen III synthase EXP SMPDB SMP:00344 NCBI chr10:125,784,980...125,823,280
Ensembl chr10:125,784,980...125,823,258
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 EXP SMPDB SMP:00535 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,619,522...44,652,233
JBrowse link
G ADCY10 adenylate cyclase 10 EXP SMPDB SMP:00535 NCBI chr 1:167,809,080...167,916,389
Ensembl chr 1:167,809,386...167,914,215
JBrowse link
G ADSL adenylosuccinate lyase EXP SMPDB SMP:00535 NCBI chr22:40,346,500...40,387,527
Ensembl chr22:40,346,461...40,390,463
JBrowse link
G ADSS2 adenylosuccinate synthase 2 EXP SMPDB SMP:00535 NCBI chr 1:244,408,494...244,452,060
Ensembl chr 1:244,408,494...244,451,909
JBrowse link
G AK1 adenylate kinase 1 EXP SMPDB SMP:00535 NCBI chr 9:127,866,480...127,885,542
Ensembl chr 9:127,866,486...127,877,675
JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 EXP SMPDB SMP:00535 NCBI chr 1:114,673,098...114,695,546
Ensembl chr 1:114,673,090...114,695,618
JBrowse link
G APRT adenine phosphoribosyltransferase EXP SMPDB SMP:00535 NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937
JBrowse link
G ATAD1 ATPase family AAA domain containing 1 EXP SMPDB SMP:00535 NCBI chr10:87,751,512...87,841,359
Ensembl chr10:87,751,512...87,841,361
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase EXP SMPDB SMP:00535 NCBI chr 2:215,311,974...215,359,745
Ensembl chr 2:215,311,956...215,349,773
JBrowse link
G DGUOK deoxyguanosine kinase EXP SMPDB SMP:00535 NCBI chr 2:73,926,827...73,958,961
Ensembl chr 2:73,926,826...73,958,961
JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) EXP SMPDB SMP:00535 NCBI chr14:73,955,329...74,019,326
Ensembl chr14:73,958,010...74,019,399
JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 EXP SMPDB SMP:00535 NCBI chr 9:137,434,364...137,441,710
Ensembl chr 9:137,434,364...137,441,816
JBrowse link
G GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase EXP SMPDB SMP:00535 NCBI chr21:33,503,931...33,542,892
Ensembl chr21:33,503,931...33,543,491
JBrowse link
G GDA guanine deaminase EXP SMPDB SMP:00535 NCBI chr 9:72,114,595...72,256,045
Ensembl chr 9:72,114,595...72,257,193
JBrowse link
G GMPR guanosine monophosphate reductase EXP SMPDB SMP:00535 NCBI chr 6:16,238,587...16,295,549
Ensembl chr 6:16,238,587...16,295,549
JBrowse link
G GMPS guanine monophosphate synthase EXP SMPDB SMP:00535 NCBI chr 3:155,869,430...155,944,020
Ensembl chr 3:155,870,650...155,944,020
JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 EXP SMPDB SMP:00535 NCBI chr11:106,674,019...107,018,476
Ensembl chr11:106,674,019...107,018,476
JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 EXP SMPDB SMP:00535 NCBI chr 4:155,759,021...155,807,811
Ensembl chr 4:155,758,992...155,807,811
JBrowse link
G GUK1 guanylate kinase 1 EXP SMPDB SMP:00535 NCBI chr 1:228,140,084...228,148,955
Ensembl chr 1:228,139,962...228,148,984
JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 EXP SMPDB SMP:00535 NCBI chr  X:134,460,165...134,500,668
Ensembl chr  X:134,460,165...134,520,513
JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 EXP SMPDB SMP:00535 NCBI chr 7:128,392,277...128,409,989
Ensembl chr 7:128,392,277...128,410,252
JBrowse link
G ITPA inosine triphosphatase EXP SMPDB SMP:00535 NCBI chr20:3,208,676...3,227,449
Ensembl chr20:3,208,868...3,223,870
JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 EXP SMPDB SMP:00535 NCBI chr 3:48,288,402...48,302,904
Ensembl chr 3:48,290,722...48,301,685
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II EXP SMPDB SMP:00535 NCBI chr10:103,088,017...103,193,301
Ensembl chr10:103,087,185...103,277,605
JBrowse link
G NUDT2 nudix hydrolase 2 EXP SMPDB SMP:00535 NCBI chr 9:34,329,569...34,343,713
Ensembl chr 9:34,329,506...34,343,711
JBrowse link
G NUDT5 nudix hydrolase 5 EXP SMPDB SMP:00535 NCBI chr10:12,165,330...12,195,891
Ensembl chr10:12,165,330...12,196,144
JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase EXP SMPDB SMP:00535 NCBI chr 4:56,410,507...56,464,578
Ensembl chr 4:56,435,741...56,464,578
JBrowse link
G PDE10A phosphodiesterase 10A EXP SMPDB SMP:00535 NCBI chr 6:165,327,287...165,988,115
Ensembl chr 6:165,327,287...165,988,078
JBrowse link
G PDE4D phosphodiesterase 4D EXP SMPDB SMP:00535 NCBI chr 5:58,969,038...60,524,329
Ensembl chr 5:58,969,038...60,522,120
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase EXP SMPDB SMP:00535 NCBI chr17:8,247,596...8,270,491
Ensembl chr17:8,247,618...8,270,491
JBrowse link
G PNP purine nucleoside phosphorylase EXP SMPDB SMP:00535 NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,468,954...20,477,089
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase EXP SMPDB SMP:00535 NCBI chr 4:56,393,362...56,435,615
Ensembl chr 4:56,393,362...56,435,615
JBrowse link
G PRPS1L1 phosphoribosyl pyrophosphate synthetase 1 like 1 EXP SMPDB SMP:00535 NCBI chr 7:18,026,770...18,027,846
Ensembl chr 7:18,026,770...18,027,846
JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 EXP SMPDB SMP:00535 NCBI chr11:4,094,685...4,138,932
Ensembl chr11:4,094,707...4,138,932
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 EXP SMPDB SMP:00535 NCBI chr 2:10,122,568...10,211,010
Ensembl chr 2:10,120,698...10,211,725
JBrowse link
G TXN thioredoxin EXP SMPDB SMP:00535 NCBI chr 9:110,243,810...110,256,507
Ensembl chr 9:110,243,810...110,256,507
JBrowse link
G XDH xanthine dehydrogenase EXP SMPDB SMP:00535 NCBI chr 2:31,334,320...31,414,777
Ensembl chr 2:31,334,321...31,414,742
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 EXP SMPDB SMP:00537 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,619,522...44,652,233
JBrowse link
G ADCY10 adenylate cyclase 10 EXP SMPDB SMP:00537 NCBI chr 1:167,809,080...167,916,389
Ensembl chr 1:167,809,386...167,914,215
JBrowse link
G ADSL adenylosuccinate lyase EXP SMPDB SMP:00537 NCBI chr22:40,346,500...40,387,527
Ensembl chr22:40,346,461...40,390,463
JBrowse link
G ADSS2 adenylosuccinate synthase 2 EXP SMPDB SMP:00537 NCBI chr 1:244,408,494...244,452,060
Ensembl chr 1:244,408,494...244,451,909
JBrowse link
G AK1 adenylate kinase 1 EXP SMPDB SMP:00537 NCBI chr 9:127,866,480...127,885,542
Ensembl chr 9:127,866,486...127,877,675
JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 EXP SMPDB SMP:00537 NCBI chr 1:114,673,098...114,695,546
Ensembl chr 1:114,673,090...114,695,618
JBrowse link
G APRT adenine phosphoribosyltransferase EXP SMPDB SMP:00537 NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937
JBrowse link
G ATAD1 ATPase family AAA domain containing 1 EXP SMPDB SMP:00537 NCBI chr10:87,751,512...87,841,359
Ensembl chr10:87,751,512...87,841,361
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase EXP SMPDB SMP:00537 NCBI chr 2:215,311,974...215,359,745
Ensembl chr 2:215,311,956...215,349,773
JBrowse link
G DGUOK deoxyguanosine kinase EXP SMPDB SMP:00537 NCBI chr 2:73,926,827...73,958,961
Ensembl chr 2:73,926,826...73,958,961
JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) EXP SMPDB SMP:00537 NCBI chr14:73,955,329...74,019,326
Ensembl chr14:73,958,010...74,019,399
JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 EXP SMPDB SMP:00537 NCBI chr 9:137,434,364...137,441,710
Ensembl chr 9:137,434,364...137,441,816
JBrowse link
G GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase EXP SMPDB SMP:00537 NCBI chr21:33,503,931...33,542,892
Ensembl chr21:33,503,931...33,543,491
JBrowse link
G GDA guanine deaminase EXP SMPDB SMP:00537 NCBI chr 9:72,114,595...72,256,045
Ensembl chr 9:72,114,595...72,257,193
JBrowse link
G GMPR guanosine monophosphate reductase EXP SMPDB SMP:00537 NCBI chr 6:16,238,587...16,295,549
Ensembl chr 6:16,238,587...16,295,549
JBrowse link
G GMPS guanine monophosphate synthase EXP SMPDB SMP:00537 NCBI chr 3:155,869,430...155,944,020
Ensembl chr 3:155,870,650...155,944,020
JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 EXP SMPDB SMP:00537 NCBI chr11:106,674,019...107,018,476
Ensembl chr11:106,674,019...107,018,476
JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 EXP SMPDB SMP:00537 NCBI chr 4:155,759,021...155,807,811
Ensembl chr 4:155,758,992...155,807,811
JBrowse link
G GUK1 guanylate kinase 1 EXP SMPDB SMP:00537 NCBI chr 1:228,140,084...228,148,955
Ensembl chr 1:228,139,962...228,148,984
JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 EXP SMPDB SMP:00537 NCBI chr  X:134,460,165...134,500,668
Ensembl chr  X:134,460,165...134,520,513
JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 EXP SMPDB SMP:00537 NCBI chr 7:128,392,277...128,409,989
Ensembl chr 7:128,392,277...128,410,252
JBrowse link
G ITPA inosine triphosphatase EXP SMPDB SMP:00537 NCBI chr20:3,208,676...3,227,449
Ensembl chr20:3,208,868...3,223,870
JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 EXP SMPDB SMP:00537 NCBI chr 3:48,288,402...48,302,904
Ensembl chr 3:48,290,722...48,301,685
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II EXP SMPDB SMP:00537 NCBI chr10:103,088,017...103,193,301
Ensembl chr10:103,087,185...103,277,605
JBrowse link
G NUDT2 nudix hydrolase 2 EXP SMPDB SMP:00537 NCBI chr 9:34,329,569...34,343,713
Ensembl chr 9:34,329,506...34,343,711
JBrowse link
G NUDT5 nudix hydrolase 5 EXP SMPDB SMP:00537 NCBI chr10:12,165,330...12,195,891
Ensembl chr10:12,165,330...12,196,144
JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase EXP SMPDB SMP:00537 NCBI chr 4:56,410,507...56,464,578
Ensembl chr 4:56,435,741...56,464,578
JBrowse link
G PDE10A phosphodiesterase 10A EXP SMPDB SMP:00537 NCBI chr 6:165,327,287...165,988,115
Ensembl chr 6:165,327,287...165,988,078
JBrowse link
G PDE4D phosphodiesterase 4D EXP SMPDB SMP:00537 NCBI chr 5:58,969,038...60,524,329
Ensembl chr 5:58,969,038...60,522,120
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase EXP SMPDB SMP:00537 NCBI chr17:8,247,596...8,270,491
Ensembl chr17:8,247,618...8,270,491
JBrowse link
G PNP purine nucleoside phosphorylase EXP SMPDB SMP:00537 NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,468,954...20,477,089
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase EXP SMPDB SMP:00537 NCBI chr 4:56,393,362...56,435,615
Ensembl chr 4:56,393,362...56,435,615
JBrowse link
G PRPS1L1 phosphoribosyl pyrophosphate synthetase 1 like 1 EXP SMPDB SMP:00537 NCBI chr 7:18,026,770...18,027,846
Ensembl chr 7:18,026,770...18,027,846
JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 EXP SMPDB SMP:00537 NCBI chr11:4,094,685...4,138,932
Ensembl chr11:4,094,707...4,138,932
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 EXP SMPDB SMP:00537 NCBI chr 2:10,122,568...10,211,010
Ensembl chr 2:10,120,698...10,211,725
JBrowse link
G TXN thioredoxin EXP SMPDB SMP:00537 NCBI chr 9:110,243,810...110,256,507
Ensembl chr 9:110,243,810...110,256,507
JBrowse link
G XDH xanthine dehydrogenase EXP SMPDB SMP:00537 NCBI chr 2:31,334,320...31,414,777
Ensembl chr 2:31,334,321...31,414,742
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 EXP SMPDB SMP:00167 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,619,522...44,652,233
JBrowse link
G ADCY10 adenylate cyclase 10 EXP SMPDB SMP:00167 NCBI chr 1:167,809,080...167,916,389
Ensembl chr 1:167,809,386...167,914,215
JBrowse link
G ADSL adenylosuccinate lyase EXP SMPDB SMP:00167 NCBI chr22:40,346,500...40,387,527
Ensembl chr22:40,346,461...40,390,463
JBrowse link
G ADSS2 adenylosuccinate synthase 2 EXP SMPDB SMP:00167 NCBI chr 1:244,408,494...244,452,060
Ensembl chr 1:244,408,494...244,451,909
JBrowse link
G AK1 adenylate kinase 1 EXP SMPDB SMP:00167 NCBI chr 9:127,866,480...127,885,542
Ensembl chr 9:127,866,486...127,877,675
JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 EXP SMPDB SMP:00167 NCBI chr 1:114,673,098...114,695,546
Ensembl chr 1:114,673,090...114,695,618
JBrowse link
G APRT adenine phosphoribosyltransferase EXP SMPDB SMP:00167 NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937
JBrowse link
G ATAD1 ATPase family AAA domain containing 1 EXP SMPDB SMP:00167 NCBI chr10:87,751,512...87,841,359
Ensembl chr10:87,751,512...87,841,361
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase EXP SMPDB SMP:00167 NCBI chr 2:215,311,974...215,359,745
Ensembl chr 2:215,311,956...215,349,773
JBrowse link
G DGUOK deoxyguanosine kinase EXP SMPDB SMP:00167 NCBI chr 2:73,926,827...73,958,961
Ensembl chr 2:73,926,826...73,958,961
JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) EXP SMPDB SMP:00167 NCBI chr14:73,955,329...74,019,326
Ensembl chr14:73,958,010...74,019,399
JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 EXP SMPDB SMP:00167 NCBI chr 9:137,434,364...137,441,710
Ensembl chr 9:137,434,364...137,441,816
JBrowse link
G GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase EXP SMPDB SMP:00167 NCBI chr21:33,503,931...33,542,892
Ensembl chr21:33,503,931...33,543,491
JBrowse link
G GDA guanine deaminase EXP SMPDB SMP:00167 NCBI chr 9:72,114,595...72,256,045
Ensembl chr 9:72,114,595...72,257,193
JBrowse link
G GMPR guanosine monophosphate reductase EXP SMPDB SMP:00167 NCBI chr 6:16,238,587...16,295,549
Ensembl chr 6:16,238,587...16,295,549
JBrowse link
G GMPS guanine monophosphate synthase EXP SMPDB SMP:00167 NCBI chr 3:155,869,430...155,944,020
Ensembl chr 3:155,870,650...155,944,020
JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 EXP SMPDB SMP:00167 NCBI chr11:106,674,019...107,018,476
Ensembl chr11:106,674,019...107,018,476
JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 EXP SMPDB SMP:00167 NCBI chr 4:155,759,021...155,807,811
Ensembl chr 4:155,758,992...155,807,811
JBrowse link
G GUK1 guanylate kinase 1 EXP SMPDB SMP:00167 NCBI chr 1:228,140,084...228,148,955
Ensembl chr 1:228,139,962...228,148,984
JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 EXP SMPDB SMP:00167 NCBI chr  X:134,460,165...134,500,668
Ensembl chr  X:134,460,165...134,520,513
JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 EXP SMPDB SMP:00167 NCBI chr 7:128,392,277...128,409,989
Ensembl chr 7:128,392,277...128,410,252
JBrowse link
G ITPA inosine triphosphatase EXP SMPDB SMP:00167 NCBI chr20:3,208,676...3,227,449
Ensembl chr20:3,208,868...3,223,870
JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 EXP SMPDB SMP:00167 NCBI chr 3:48,288,402...48,302,904
Ensembl chr 3:48,290,722...48,301,685
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II EXP SMPDB SMP:00167 NCBI chr10:103,088,017...103,193,301
Ensembl chr10:103,087,185...103,277,605
JBrowse link
G NUDT2 nudix hydrolase 2 EXP SMPDB SMP:00167 NCBI chr 9:34,329,569...34,343,713
Ensembl chr 9:34,329,506...34,343,711
JBrowse link
G NUDT5 nudix hydrolase 5 EXP SMPDB SMP:00167 NCBI chr10:12,165,330...12,195,891
Ensembl chr10:12,165,330...12,196,144
JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase EXP SMPDB SMP:00167 NCBI chr 4:56,410,507...56,464,578
Ensembl chr 4:56,435,741...56,464,578
JBrowse link
G PDE10A phosphodiesterase 10A EXP SMPDB SMP:00167 NCBI chr 6:165,327,287...165,988,115
Ensembl chr 6:165,327,287...165,988,078
JBrowse link
G PDE4D phosphodiesterase 4D EXP SMPDB SMP:00167 NCBI chr 5:58,969,038...60,524,329
Ensembl chr 5:58,969,038...60,522,120
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase EXP SMPDB SMP:00167 NCBI chr17:8,247,596...8,270,491
Ensembl chr17:8,247,618...8,270,491
JBrowse link
G PNP purine nucleoside phosphorylase EXP SMPDB SMP:00167 NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,468,954...20,477,089
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase EXP SMPDB SMP:00167 NCBI chr 4:56,393,362...56,435,615
Ensembl chr 4:56,393,362...56,435,615
JBrowse link
G PRPS1L1 phosphoribosyl pyrophosphate synthetase 1 like 1 EXP SMPDB SMP:00167 NCBI chr 7:18,026,770...18,027,846
Ensembl chr 7:18,026,770...18,027,846
JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 EXP SMPDB SMP:00167 NCBI chr11:4,094,685...4,138,932
Ensembl chr11:4,094,707...4,138,932
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 EXP SMPDB SMP:00167 NCBI chr 2:10,122,568...10,211,010
Ensembl chr 2:10,120,698...10,211,725
JBrowse link
G TXN thioredoxin EXP SMPDB SMP:00167 NCBI chr 9:110,243,810...110,256,507
Ensembl chr 9:110,243,810...110,256,507
JBrowse link
G XDH xanthine dehydrogenase EXP SMPDB SMP:00167 NCBI chr 2:31,334,320...31,414,777
Ensembl chr 2:31,334,321...31,414,742
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 EXP SMPDB SMP:00516 NCBI chr  X:153,724,851...153,744,755
Ensembl chr  X:153,724,856...153,744,755
JBrowse link
G ABCD2 ATP binding cassette subfamily D member 2 EXP SMPDB SMP:00516 NCBI chr12:39,530,965...39,651,333
Ensembl chr12:39,550,033...39,619,803
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 EXP SMPDB SMP:00516 NCBI chr 4:184,755,595...184,826,593
Ensembl chr 4:184,755,595...184,826,818
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 EXP SMPDB SMP:00516 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G CRAT carnitine O-acetyltransferase EXP SMPDB SMP:00516 NCBI chr 9:129,094,794...129,110,793
Ensembl chr 9:129,094,142...129,111,189
JBrowse link
G CROT carnitine O-octanoyltransferase EXP SMPDB SMP:00516 NCBI chr 7:87,345,646...87,399,794
Ensembl chr 7:87,345,664...87,399,794
JBrowse link
G PEX11G peroxisomal biogenesis factor 11 gamma EXP SMPDB SMP:00516 NCBI chr19:7,476,875...7,494,977
Ensembl chr19:7,476,875...7,497,449
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 EXP SMPDB SMP:00516 NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 EXP SMPDB SMP:00516 NCBI chr 1:10,474,946...10,630,758
Ensembl chr 1:10,472,288...10,630,758
JBrowse link
G SLC25A20 solute carrier family 25 member 20 EXP SMPDB SMP:00516 NCBI chr 3:48,856,926...48,898,882
Ensembl chr 3:48,856,926...48,898,904
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 EXP SMPDB SMP:00362 SMP:00507 NCBI chr 1:18,871,430...18,902,555
Ensembl chr 1:18,871,430...18,902,724
JBrowse link
G ARG1 arginase 1 EXP SMPDB SMP:00362 SMP:00507 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
JBrowse link
G ASL argininosuccinate lyase EXP SMPDB SMP:00362 SMP:00507 NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697
JBrowse link
G ASS1 argininosuccinate synthase 1 EXP SMPDB SMP:00362 SMP:00507 NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274
JBrowse link
G CKB creatine kinase B EXP SMPDB SMP:00362 SMP:00507 NCBI chr14:103,519,667...103,522,833
Ensembl chr14:103,519,667...103,522,833
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 EXP SMPDB SMP:00362 SMP:00507 NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
JBrowse link
G DAO D-amino acid oxidase EXP SMPDB SMP:00362 SMP:00507 NCBI chr12:108,880,030...108,901,043
Ensembl chr12:108,858,932...108,901,043
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 EXP SMPDB SMP:00362 SMP:00507 NCBI chr 1:219,968,600...220,046,505
Ensembl chr 1:219,968,600...220,046,530
JBrowse link
G GAMT guanidinoacetate N-methyltransferase EXP SMPDB SMP:00362 SMP:00507 NCBI chr19:1,397,026...1,401,542
Ensembl chr19:1,397,026...1,401,570
JBrowse link
G GATM glycine amidinotransferase EXP SMPDB SMP:00362 SMP:00507 NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327
JBrowse link
G GLUD1 glutamate dehydrogenase 1 EXP SMPDB SMP:00362 SMP:00507 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 EXP SMPDB SMP:00362 SMP:00507 NCBI chr10:99,396,870...99,430,624
Ensembl chr10:99,396,870...99,430,624
JBrowse link
G NOS1 nitric oxide synthase 1 EXP SMPDB SMP:00362 SMP:00507 NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
JBrowse link
G OAT ornithine aminotransferase EXP SMPDB SMP:00362 SMP:00507 NCBI chr10:124,397,303...124,418,923
Ensembl chr10:124,397,303...124,418,976
JBrowse link
G OTC ornithine transcarbamylase EXP SMPDB SMP:00362 SMP:00507 NCBI chr  X:38,352,528...38,421,446
Ensembl chr  X:38,352,586...38,421,446
JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 EXP SMPDB SMP:00362 SMP:00507 NCBI chr11:74,259,923...74,311,654
Ensembl chr11:74,235,801...74,311,640
JBrowse link
G PRODH proline dehydrogenase 1 EXP SMPDB SMP:00362 SMP:00507 NCBI chr22:18,912,781...18,936,553
Ensembl chr22:18,912,777...18,936,553
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 EXP SMPDB SMP:00362 SMP:00507 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340
JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial EXP SMPDB SMP:00362 SMP:00507 NCBI chr 6:87,513,938...87,589,996
Ensembl chr 6:87,513,938...87,589,987
JBrowse link
G SLC25A15 solute carrier family 25 member 15 EXP SMPDB SMP:00362 SMP:00507 NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460
JBrowse link
AICA-ribosuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase EXP SMPDB SMP:00168 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,619,522...44,652,233
JBrowse link
G ADCY10 adenylate cyclase 10 EXP SMPDB SMP:00168 NCBI chr 1:167,809,080...167,916,389
Ensembl chr 1:167,809,386...167,914,215
JBrowse link
G ADSL adenylosuccinate lyase EXP SMPDB SMP:00168 NCBI chr22:40,346,500...40,387,527
Ensembl chr22:40,346,461...40,390,463
JBrowse link
G ADSS2 adenylosuccinate synthase 2 EXP SMPDB SMP:00168 NCBI chr 1:244,408,494...244,452,060
Ensembl chr 1:244,408,494...244,451,909
JBrowse link
G AK1 adenylate kinase 1 EXP SMPDB SMP:00168 NCBI chr 9:127,866,480...127,885,542
Ensembl chr 9:127,866,486...127,877,675
JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 EXP SMPDB SMP:00168 NCBI chr 1:114,673,098...114,695,546
Ensembl chr 1:114,673,090...114,695,618
JBrowse link
G APRT adenine phosphoribosyltransferase EXP SMPDB SMP:00168 NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937
JBrowse link
G ATAD1 ATPase family AAA domain containing 1 EXP SMPDB SMP:00168 NCBI chr10:87,751,512...87,841,359
Ensembl chr10:87,751,512...87,841,361
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase EXP SMPDB SMP:00168 NCBI chr 2:215,311,974...215,359,745
Ensembl chr 2:215,311,956...215,349,773
JBrowse link
G DGUOK deoxyguanosine kinase EXP SMPDB SMP:00168 NCBI chr 2:73,926,827...73,958,961
Ensembl chr 2:73,926,826...73,958,961
JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) EXP SMPDB SMP:00168 NCBI chr14:73,955,329...74,019,326
Ensembl chr14:73,958,010...74,019,399
JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 EXP SMPDB SMP:00168 NCBI chr 9:137,434,364...137,441,710
Ensembl chr 9:137,434,364...137,441,816
JBrowse link
G GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase EXP SMPDB SMP:00168 NCBI chr21:33,503,931...33,542,892
Ensembl chr21:33,503,931...33,543,491
JBrowse link
G GDA guanine deaminase EXP SMPDB SMP:00168 NCBI chr 9:72,114,595...72,256,045
Ensembl chr 9:72,114,595...72,257,193
JBrowse link
G GMPR guanosine monophosphate reductase EXP SMPDB SMP:00168 NCBI chr 6:16,238,587...16,295,549
Ensembl chr 6:16,238,587...16,295,549
JBrowse link
G GMPS guanine monophosphate synthase EXP SMPDB SMP:00168 NCBI chr 3:155,869,430...155,944,020
Ensembl chr 3:155,870,650...155,944,020
JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 EXP SMPDB SMP:00168 NCBI chr11:106,674,019...107,018,476
Ensembl chr11:106,674,019...107,018,476
JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 EXP SMPDB SMP:00168 NCBI chr 4:155,759,021...155,807,811
Ensembl chr 4:155,758,992...155,807,811
JBrowse link
G GUK1 guanylate kinase 1 EXP SMPDB SMP:00168 NCBI chr 1:228,140,084...228,148,955
Ensembl chr 1:228,139,962...228,148,984
JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 EXP SMPDB SMP:00168 NCBI chr  X:134,460,165...134,500,668
Ensembl chr  X:134,460,165...134,520,513
JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 EXP SMPDB SMP:00168 NCBI chr 7:128,392,277...128,409,989
Ensembl chr 7:128,392,277...128,410,252
JBrowse link
G ITPA inosine triphosphatase EXP SMPDB SMP:00168 NCBI chr20:3,208,676...3,227,449
Ensembl chr20:3,208,868...3,223,870
JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 EXP SMPDB SMP:00168 NCBI chr 3:48,288,402...48,302,904
Ensembl chr 3:48,290,722...48,301,685
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II EXP SMPDB SMP:00168 NCBI chr10:103,088,017...103,193,301
Ensembl chr10:103,087,185...103,277,605
JBrowse link
G NUDT2 nudix hydrolase 2 EXP SMPDB SMP:00168 NCBI chr 9:34,329,569...34,343,713
Ensembl chr 9:34,329,506...34,343,711
JBrowse link
G NUDT5 nudix hydrolase 5 EXP SMPDB SMP:00168 NCBI chr10:12,165,330...12,195,891
Ensembl chr10:12,165,330...12,196,144
JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase EXP SMPDB SMP:00168 NCBI chr 4:56,410,507...56,464,578
Ensembl chr 4:56,435,741...56,464,578
JBrowse link
G PDE10A phosphodiesterase 10A EXP SMPDB SMP:00168 NCBI chr 6:165,327,287...165,988,115
Ensembl chr 6:165,327,287...165,988,078
JBrowse link
G PDE4D phosphodiesterase 4D EXP SMPDB SMP:00168 NCBI chr 5:58,969,038...60,524,329
Ensembl chr 5:58,969,038...60,522,120
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase EXP SMPDB SMP:00168 NCBI chr17:8,247,596...8,270,491
Ensembl chr17:8,247,618...8,270,491
JBrowse link
G PNP purine nucleoside phosphorylase EXP SMPDB SMP:00168 NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,468,954...20,477,089
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase EXP SMPDB SMP:00168 NCBI chr 4:56,393,362...56,435,615
Ensembl chr 4:56,393,362...56,435,615
JBrowse link
G PRPS1L1 phosphoribosyl pyrophosphate synthetase 1 like 1 EXP SMPDB SMP:00168 NCBI chr 7:18,026,770...18,027,846
Ensembl chr 7:18,026,770...18,027,846
JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 EXP SMPDB SMP:00168 NCBI chr11:4,094,685...4,138,932
Ensembl chr11:4,094,707...4,138,932
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 EXP SMPDB SMP:00168 NCBI chr 2:10,122,568...10,211,010
Ensembl chr 2:10,120,698...10,211,725
JBrowse link
G TXN thioredoxin EXP SMPDB SMP:00168 NCBI chr 9:110,243,810...110,256,507
Ensembl chr 9:110,243,810...110,256,507
JBrowse link
G XDH xanthine dehydrogenase EXP SMPDB SMP:00168 NCBI chr 2:31,334,320...31,414,777
Ensembl chr 2:31,334,321...31,414,742
JBrowse link
alkaptonuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide EXP SMPDB SMP:00169 NCBI chr 4:99,276,369...99,290,985
Ensembl chr 4:99,276,369...99,291,003
JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 EXP SMPDB SMP:00169 NCBI chr17:19,737,984...19,748,390
Ensembl chr17:19,737,984...19,748,943
JBrowse link
G AOC1 amine oxidase copper containing 1 EXP SMPDB SMP:00169 NCBI chr 7:150,824,875...150,861,504
Ensembl chr 7:150,824,627...150,861,504
JBrowse link
G COMT catechol-O-methyltransferase EXP SMPDB SMP:00169 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G DBH dopamine beta-hydroxylase EXP SMPDB SMP:00169 NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329
JBrowse link
G DCT dopachrome tautomerase EXP SMPDB SMP:00169 NCBI chr13:94,436,811...94,549,406
Ensembl chr13:94,436,811...94,479,682
JBrowse link
G DDC dopa decarboxylase EXP SMPDB SMP:00169 NCBI chr 7:50,458,436...50,565,460
Ensembl chr 7:50,458,436...50,565,405
JBrowse link
G FAH fumarylacetoacetate hydrolase EXP SMPDB SMP:00169 NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 EXP SMPDB SMP:00169 NCBI chr10:99,396,870...99,430,624
Ensembl chr10:99,396,870...99,430,624
JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 EXP SMPDB SMP:00169 NCBI chr14:77,321,002...77,331,597
Ensembl chr14:77,320,996...77,331,597
JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase EXP SMPDB SMP:00169 NCBI chr 2:42,767,087...42,801,002
Ensembl chr 2:42,767,089...42,792,593
JBrowse link
G HGD homogentisate 1,2-dioxygenase EXP SMPDB SMP:00169 NCBI chr 3:120,628,168...120,682,555
Ensembl chr 3:120,628,172...120,682,269
JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase EXP SMPDB SMP:00169 NCBI chr12:121,839,527...121,888,611
Ensembl chr12:121,839,527...121,863,596
JBrowse link
G MAOA monoamine oxidase A EXP SMPDB SMP:00169 NCBI chr  X:43,655,006...43,746,817
Ensembl chr  X:43,654,907...43,746,824
JBrowse link
G MIF macrophage migration inhibitory factor EXP SMPDB SMP:00169 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
JBrowse link
G PNMT phenylethanolamine N-methyltransferase EXP SMPDB SMP:00169 NCBI chr17:39,668,019...39,670,475
Ensembl chr17:39,667,981...39,670,475
JBrowse link
G TAT tyrosine aminotransferase EXP SMPDB SMP:00169 NCBI chr16:71,565,660...71,577,092
Ensembl chr16:71,565,660...71,577,092
JBrowse link
G TYR tyrosinase EXP SMPDB SMP:00169 NCBI chr11:89,177,565...89,295,759
Ensembl chr11:89,177,875...89,295,759
JBrowse link
apparent mineralocorticoid excess syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1C4 aldo-keto reductase family 1 member C4 EXP SMPDB SMP:00717 NCBI chr10:5,196,837...5,218,949
Ensembl chr10:5,195,462...5,218,949
JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 EXP SMPDB SMP:00717 NCBI chr 7:138,076,459...138,118,305
Ensembl chr 7:138,002,324...138,118,305
JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 EXP SMPDB SMP:00717 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 EXP SMPDB SMP:00717 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846
JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 EXP SMPDB SMP:00717 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 EXP SMPDB SMP:00717 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
JBrowse link
G CYP21A2 cytochrome P450 family 21 subfamily A member 2 EXP SMPDB SMP:00717 NCBI chr 6:32,038,415...32,041,644
Ensembl chr 6:32,038,327...32,041,644
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 EXP SMPDB SMP:00717 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949
JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 EXP SMPDB SMP:00717 NCBI chr16:67,431,121...67,437,553
Ensembl chr16:67,430,652...67,437,553
JBrowse link
G HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 EXP SMPDB SMP:00717 NCBI chr 1:119,507,203...119,515,058
Ensembl chr 1:119,507,198...119,515,054
JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 EXP SMPDB SMP:00717 NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
JBrowse link
argininosuccinic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 EXP SMPDB SMP:00003 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
JBrowse link
G ASL argininosuccinate lyase EXP SMPDB SMP:00003 NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697
JBrowse link
G ASS1 argininosuccinate synthase 1 EXP SMPDB SMP:00003 NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 EXP SMPDB SMP:00003 NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
JBrowse link
G GLS2 glutaminase 2 EXP SMPDB SMP:00003 NCBI chr12:56,470,952...56,488,161
Ensembl chr12:56,470,944...56,488,414
JBrowse link
G GLUD1 glutamate dehydrogenase 1 EXP SMPDB SMP:00003 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 EXP SMPDB SMP:00003 NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342
JBrowse link
G GPT glutamic--pyruvic transaminase EXP SMPDB SMP:00003 NCBI chr 8:144,503,068...144,507,172
Ensembl chr 8:144,502,973...144,507,174
JBrowse link
G OTC ornithine transcarbamylase EXP SMPDB SMP:00003 NCBI chr  X:38,352,528...38,421,446
Ensembl chr  X:38,352,586...38,421,446
JBrowse link
G SLC1A4 solute carrier family 1 member 4 EXP SMPDB SMP:00003 NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865
JBrowse link
G SLC1A5 solute carrier family 1 member 5 EXP SMPDB SMP:00003 NCBI chr19:46,774,883...46,788,594
Ensembl chr19:46,774,883...46,788,594
JBrowse link
G SLC25A12 solute carrier family 25 member 12 EXP SMPDB SMP:00003 NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859
JBrowse link
G SLC25A15 solute carrier family 25 member 15 EXP SMPDB SMP:00003 NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460
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 EXP SMPDB SMP:00170 NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329
JBrowse link
G DDC dopa decarboxylase EXP SMPDB SMP:00170 NCBI chr 7:50,458,436...50,565,460
Ensembl chr 7:50,458,436...50,565,405
JBrowse link
G PNMT phenylethanolamine N-methyltransferase EXP SMPDB SMP:00170 NCBI chr17:39,668,019...39,670,475
Ensembl chr17:39,667,981...39,670,475
JBrowse link
G TH tyrosine hydroxylase EXP SMPDB SMP:00170 NCBI chr11:2,163,929...2,174,081
Ensembl chr11:2,163,929...2,171,815
JBrowse link
beta-ureidopropionase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK3 adenylate kinase 3 EXP SMPDB SMP:00172 NCBI chr 9:4,709,556...4,742,043
Ensembl chr 9:4,709,556...4,742,043
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase EXP SMPDB SMP:00172 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943
JBrowse link
G CANT1 calcium activated nucleotidase 1 EXP SMPDB SMP:00172 NCBI chr17:78,991,716...79,009,793
Ensembl chr17:78,991,716...79,009,867
JBrowse link
G CDA cytidine deaminase EXP SMPDB SMP:00172 NCBI chr 1:20,589,097...20,618,903
Ensembl chr 1:20,589,086...20,618,903
JBrowse link
G CMPK2 cytidine/uridine monophosphate kinase 2 EXP SMPDB SMP:00172 NCBI chr 2:6,840,417...6,866,635
Ensembl chr 2:6,840,570...6,866,635
JBrowse link
G CTPS1 CTP synthase 1 EXP SMPDB SMP:00172 NCBI chr 1:40,979,696...41,012,565
Ensembl chr 1:40,979,688...41,012,565
JBrowse link
G DCTD dCMP deaminase EXP SMPDB SMP:00172 NCBI chr 4:182,890,091...182,917,611
Ensembl chr 4:182,890,060...182,917,936
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) EXP SMPDB SMP:00172 NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664
JBrowse link
G DPYD dihydropyrimidine dehydrogenase EXP SMPDB SMP:00172 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
JBrowse link
G DPYS dihydropyrimidinase EXP SMPDB SMP:00172 NCBI chr 8:104,379,429...104,467,074
Ensembl chr 8:104,330,324...104,467,055
JBrowse link
G DUT deoxyuridine triphosphatase EXP SMPDB SMP:00172 NCBI chr15:48,329,991...48,343,373
Ensembl chr15:48,331,011...48,343,373
JBrowse link
G GDA guanine deaminase EXP SMPDB SMP:00172 NCBI chr 9:72,114,595...72,256,045
Ensembl chr 9:72,114,595...72,257,193
JBrowse link
G ITPA inosine triphosphatase EXP SMPDB SMP:00172 NCBI chr20:3,208,676...3,227,449
Ensembl chr20:3,208,868...3,223,870
JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 EXP SMPDB SMP:00172 NCBI chr 3:48,288,402...48,302,904
Ensembl chr 3:48,290,722...48,301,685
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II EXP SMPDB SMP:00172 NCBI chr10:103,088,017...103,193,301
Ensembl chr10:103,087,185...103,277,605
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 EXP SMPDB SMP:00172 NCBI chr 2:10,122,568...10,211,010
Ensembl chr 2:10,120,698...10,211,725
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B EXP SMPDB SMP:00172 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
JBrowse link
G TK1 thymidine kinase 1 EXP SMPDB SMP:00172 NCBI chr17:78,174,079...78,187,204
Ensembl chr17:78,174,091...78,187,233
JBrowse link
G TYMP thymidine phosphorylase EXP SMPDB SMP:00172 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link
G TYMS thymidylate synthetase EXP SMPDB SMP:00172 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
JBrowse link
G UCKL1 uridine-cytidine kinase 1 like 1 EXP SMPDB SMP:00172 NCBI chr20:63,939,829...63,956,447
Ensembl chr20:63,939,829...63,956,416
JBrowse link
G UMPS uridine monophosphate synthetase EXP SMPDB SMP:00172 NCBI chr 3:124,730,442...124,749,273
Ensembl chr 3:124,730,433...124,749,273
JBrowse link
G UPB1 beta-ureidopropionase 1 EXP SMPDB SMP:00172 NCBI chr22:24,495,060...24,528,681
Ensembl chr22:24,494,107...24,528,390
JBrowse link
G UPP2 uridine phosphorylase 2 EXP SMPDB SMP:00172 NCBI chr 2:157,995,179...158,136,154
Ensembl chr 2:157,876,702...158,136,154
JBrowse link
biotinidase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTD biotinidase EXP SMPDB SMP:00174 NCBI chr 3:15,601,352...15,722,516
Ensembl chr 3:15,601,341...15,722,311
JBrowse link
G HLCS holocarboxylase synthetase EXP SMPDB SMP:00174 NCBI chr21:36,748,625...36,990,255
Ensembl chr21:36,748,626...36,990,236
JBrowse link
G SPCS1 signal peptidase complex subunit 1 EXP SMPDB SMP:00174 NCBI chr 3:52,706,106...52,711,148
Ensembl chr 3:52,704,955...52,711,148
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 EXP SMPDB SMP:00175 NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
JBrowse link
G ADSL adenylosuccinate lyase EXP SMPDB SMP:00175 NCBI chr22:40,346,500...40,387,527
Ensembl chr22:40,346,461...40,390,463
JBrowse link
G ADSS1 adenylosuccinate synthase 1 EXP SMPDB SMP:00175 NCBI chr14:104,724,201...104,747,325
Ensembl chr14:104,724,229...104,747,325
JBrowse link
G ASL argininosuccinate lyase EXP SMPDB SMP:00175 NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697
JBrowse link
G ASNS asparagine synthetase (glutamine-hydrolyzing) EXP SMPDB SMP:00175 NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542
JBrowse link
G ASPA aspartoacylase EXP SMPDB SMP:00175 NCBI chr17:3,473,646...3,503,405
Ensembl chr17:3,472,374...3,503,405
JBrowse link
G ASRGL1 asparaginase and isoaspartyl peptidase 1 EXP SMPDB SMP:00175 NCBI chr11:62,337,430...62,401,401
Ensembl chr11:62,337,448...62,393,412
JBrowse link
G ASS1 argininosuccinate synthase 1 EXP SMPDB SMP:00175 NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase EXP SMPDB SMP:00175 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943
JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 EXP SMPDB SMP:00175 NCBI chr 2:135,905,881...135,985,684
Ensembl chr 2:135,905,881...135,986,100
JBrowse link
G DDO D-aspartate oxidase EXP SMPDB SMP:00175 NCBI chr 6:110,388,321...110,415,575
Ensembl chr 6:110,391,771...110,415,575
JBrowse link
G GAD1 glutamate decarboxylase 1 EXP SMPDB SMP:00175 NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151
JBrowse link
G IL4I1 interleukin 4 induced 1 EXP SMPDB SMP:00175 NCBI chr19:49,889,654...49,929,504
Ensembl chr19:49,889,654...49,929,539
JBrowse link
G NARS1 asparaginyl-tRNA synthetase 1 EXP SMPDB SMP:00175 NCBI chr18:57,600,656...57,621,836
Ensembl chr18:57,600,656...57,622,213
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 EXP SMPDB SMP:00002 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
JBrowse link
G ASL argininosuccinate lyase EXP SMPDB SMP:00002 NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697
JBrowse link
G ASS1 argininosuccinate synthase 1 EXP SMPDB SMP:00002 NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 EXP SMPDB SMP:00002 NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
JBrowse link
G GLS2 glutaminase 2 EXP SMPDB SMP:00002 NCBI chr12:56,470,952...56,488,161
Ensembl chr12:56,470,944...56,488,414
JBrowse link
G GLUD1 glutamate dehydrogenase 1 EXP SMPDB SMP:00002 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 EXP SMPDB SMP:00002 NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342
JBrowse link
G GPT glutamic--pyruvic transaminase EXP SMPDB SMP:00002 NCBI chr 8:144,503,068...144,507,172
Ensembl chr 8:144,502,973...144,507,174
JBrowse link
G OTC ornithine transcarbamylase EXP SMPDB SMP:00002 NCBI chr  X:38,352,528...38,421,446
Ensembl chr  X:38,352,586...38,421,446
JBrowse link
G SLC1A4 solute carrier family 1 member 4 EXP SMPDB SMP:00002 NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865
JBrowse link
G SLC1A5 solute carrier family 1 member 5 EXP SMPDB SMP:00002 NCBI chr19:46,774,883...46,788,594
Ensembl chr19:46,774,883...46,788,594
JBrowse link
G SLC25A12 solute carrier family 25 member 12 EXP SMPDB SMP:00002 NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859
JBrowse link
G SLC25A15 solute carrier family 25 member 15 EXP SMPDB SMP:00002 NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460
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 EXP SMPDB SMP:00538 NCBI chr18:49,782,164...49,813,533
Ensembl chr18:49,782,164...49,813,953
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain EXP SMPDB SMP:00538 NCBI chr 2:210,187,923...210,225,447
Ensembl chr 2:210,187,126...210,225,447
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP SMPDB SMP:00538 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00538 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain EXP SMPDB SMP:00538 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain EXP SMPDB SMP:00538 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00538 NCBI chr11:108,116,705...108,148,822
Ensembl chr11:108,116,695...108,147,603
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 EXP SMPDB SMP:00538 NCBI chr 4:184,755,595...184,826,593
Ensembl chr 4:184,755,595...184,826,818
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A EXP SMPDB SMP:00538 NCBI chr11:68,754,620...68,844,410
Ensembl chr11:68,754,620...68,844,410
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 EXP SMPDB SMP:00538 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 EXP SMPDB SMP:00538 NCBI chr10:133,362,480...133,373,396
Ensembl chr10:133,362,485...133,373,354
JBrowse link
G GCDH glutaryl-CoA dehydrogenase EXP SMPDB SMP:00538 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha EXP SMPDB SMP:00538 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta EXP SMPDB SMP:00538 NCBI chr 2:26,244,917...26,290,465
Ensembl chr 2:26,243,170...26,290,465
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 EXP SMPDB SMP:00517 NCBI chr  X:153,724,851...153,744,755
Ensembl chr  X:153,724,856...153,744,755
JBrowse link
G ABCD2 ATP binding cassette subfamily D member 2 EXP SMPDB SMP:00517 NCBI chr12:39,530,965...39,651,333
Ensembl chr12:39,550,033...39,619,803
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 EXP SMPDB SMP:00517 NCBI chr 4:184,755,595...184,826,593
Ensembl chr 4:184,755,595...184,826,818
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 EXP SMPDB SMP:00517 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G CRAT carnitine O-acetyltransferase EXP SMPDB SMP:00517 NCBI chr 9:129,094,794...129,110,793
Ensembl chr 9:129,094,142...129,111,189
JBrowse link
G CROT carnitine O-octanoyltransferase EXP SMPDB SMP:00517 NCBI chr 7:87,345,646...87,399,794
Ensembl chr 7:87,345,664...87,399,794
JBrowse link
G PEX11G peroxisomal biogenesis factor 11 gamma EXP SMPDB SMP:00517 NCBI chr19:7,476,875...7,494,977
Ensembl chr19:7,476,875...7,497,449
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 EXP SMPDB SMP:00517 NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 EXP SMPDB SMP:00517 NCBI chr 1:10,474,946...10,630,758
Ensembl chr 1:10,472,288...10,630,758
JBrowse link
G SLC25A20 solute carrier family 25 member 20 EXP SMPDB SMP:00517 NCBI chr 3:48,856,926...48,898,882
Ensembl chr 3:48,856,926...48,898,904
JBrowse link
carnosinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase EXP SMPDB SMP:00493 NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member EXP SMPDB SMP:00493 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 EXP SMPDB SMP:00493 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492
JBrowse link
G AOC3 amine oxidase copper containing 3 EXP SMPDB SMP:00493 NCBI chr17:42,851,182...42,858,130
Ensembl chr17:42,851,184...42,858,130
JBrowse link
G CNDP1 carnosine dipeptidase 1 EXP SMPDB SMP:00493 NCBI chr18:74,534,500...74,587,212
Ensembl chr18:74,534,500...74,587,212
JBrowse link
G DPYD dihydropyrimidine dehydrogenase EXP SMPDB SMP:00493 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
JBrowse link
G DPYS dihydropyrimidinase EXP SMPDB SMP:00493 NCBI chr 8:104,379,429...104,467,074
Ensembl chr 8:104,330,324...104,467,055
JBrowse link
G GAD1 glutamate decarboxylase 1 EXP SMPDB SMP:00493 NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151
JBrowse link
G UPB1 beta-ureidopropionase 1 EXP SMPDB SMP:00493 NCBI chr22:24,495,060...24,528,681
Ensembl chr22:24,494,107...24,528,390
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 EXP SMPDB SMP:00315 NCBI chr 3:58,505,136...58,537,196
Ensembl chr 3:58,505,136...58,537,283
JBrowse link
G AKR1C4 aldo-keto reductase family 1 member C4 EXP SMPDB SMP:00315 NCBI chr10:5,196,837...5,218,949
Ensembl chr10:5,195,462...5,218,949
JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 EXP SMPDB SMP:00315 NCBI chr 7:138,076,459...138,118,305
Ensembl chr 7:138,002,324...138,118,305
JBrowse link
G AMACR alpha-methylacyl-CoA racemase EXP SMPDB SMP:00315 NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104
JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase EXP SMPDB SMP:00315 NCBI chr 9:101,360,417...101,385,006
Ensembl chr 9:101,354,182...101,385,400
JBrowse link
G CH25H cholesterol 25-hydroxylase EXP SMPDB SMP:00315 NCBI chr10:89,205,629...89,207,317
Ensembl chr10:89,205,629...89,207,317
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 EXP SMPDB SMP:00315 NCBI chr 2:218,781,733...218,815,293
Ensembl chr 2:218,781,749...218,815,293
JBrowse link
G CYP39A1 cytochrome P450 family 39 subfamily A member 1 EXP SMPDB SMP:00315 NCBI chr 6:46,549,580...46,652,849
Ensembl chr 6:46,549,580...46,652,830
JBrowse link
G CYP46A1 cytochrome P450 family 46 subfamily A member 1 EXP SMPDB SMP:00315 NCBI chr14:99,684,262...99,727,321
Ensembl chr14:99,684,298...99,727,301
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 EXP SMPDB SMP:00315 NCBI chr 8:58,490,178...58,500,163
Ensembl chr 8:58,490,178...58,500,163
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 EXP SMPDB SMP:00315 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 EXP SMPDB SMP:00315 NCBI chr 3:42,872,192...42,875,879
Ensembl chr 3:42,856,005...42,875,898
JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 EXP SMPDB SMP:00315 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 EXP SMPDB SMP:00315 NCBI chr16:30,985,189...30,989,152
Ensembl chr16:30,985,207...30,989,147
JBrowse link
G LIPA lipase A, lysosomal acid type EXP SMPDB SMP:00315 NCBI chr10:89,213,571...89,251,926
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G SCP2 sterol carrier protein 2 EXP SMPDB SMP:00315 NCBI chr 1:52,927,276...53,051,698
Ensembl chr 1:52,927,276...53,051,698
JBrowse link
G SLC27A5 solute carrier family 27 member 5 EXP SMPDB SMP:00315 NCBI chr19:58,498,333...58,512,028
Ensembl chr19:58,479,512...58,512,413
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 EXP SMPDB SMP:00508 NCBI chr 6:159,762,045...159,779,112
Ensembl chr 6:159,762,045...159,779,112
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 EXP SMPDB SMP:00508 NCBI chr 7:92,112,153...92,134,803
Ensembl chr 7:92,112,153...92,134,803
JBrowse link
G DHCR24 24-dehydrocholesterol reductase EXP SMPDB SMP:00508 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
JBrowse link
G EBP EBP cholestenol delta-isomerase EXP SMPDB SMP:00508 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 EXP SMPDB SMP:00508 NCBI chr 8:11,795,582...11,839,309
Ensembl chr 8:11,795,573...11,839,304
JBrowse link
G FDPS farnesyl diphosphate synthase EXP SMPDB SMP:00508 NCBI chr 1:155,308,801...155,320,665
Ensembl chr 1:155,308,748...155,320,666
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 EXP SMPDB SMP:00508 NCBI chr 1:235,327,216...235,344,532
Ensembl chr 1:235,327,350...235,344,532
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase EXP SMPDB SMP:00508 NCBI chr 5:75,336,334...75,362,116
Ensembl chr 5:75,336,329...75,364,001
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 EXP SMPDB SMP:00508 NCBI chr 5:43,287,470...43,313,477
Ensembl chr 5:43,287,470...43,313,512
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 EXP SMPDB SMP:00508 NCBI chr 1:162,790,702...162,812,823
Ensembl chr 1:162,790,702...162,812,823
JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 EXP SMPDB SMP:00508 NCBI chr10:1,039,152...1,056,704
Ensembl chr10:1,039,152...1,049,119
JBrowse link
G LIPA lipase A, lysosomal acid type EXP SMPDB SMP:00508 NCBI chr10:89,213,571...89,251,926
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G LSS lanosterol synthase EXP SMPDB SMP:00508 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
JBrowse link
G MSMO1 methylsterol monooxygenase 1 EXP SMPDB SMP:00508 NCBI chr 4:165,327,669...165,343,164
Ensembl chr 4:165,327,667...165,343,164
JBrowse link
G MVD mevalonate diphosphate decarboxylase EXP SMPDB SMP:00508 NCBI chr16:88,651,935...88,663,153
Ensembl chr16:88,651,935...88,663,161
JBrowse link
G MVK mevalonate kinase EXP SMPDB SMP:00508 NCBI chr12:109,573,461...109,598,125
Ensembl chr12:109,573,255...109,598,125
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like EXP SMPDB SMP:00508 NCBI chr  X:152,831,001...152,869,729
Ensembl chr  X:152,830,967...152,869,729
JBrowse link
G PMVK phosphomevalonate kinase EXP SMPDB SMP:00508 NCBI chr 1:154,924,740...154,942,658
Ensembl chr 1:154,924,740...154,936,719
JBrowse link
G SC5D sterol-C5-desaturase EXP SMPDB SMP:00508 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
JBrowse link
G SOAT1 sterol O-acyltransferase 1 EXP SMPDB SMP:00508 NCBI chr 1:179,293,719...179,358,680
Ensembl chr 1:179,293,714...179,358,680
JBrowse link
G SQLE squalene epoxidase EXP SMPDB SMP:00508 NCBI chr 8:124,998,505...125,022,283
Ensembl chr 8:124,998,497...125,022,283
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 EXP SMPDB SMP:00508 NCBI chr11:65,111,872...65,116,230
Ensembl chr11:65,111,845...65,116,384
JBrowse link
citrullinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 EXP SMPDB SMP:00001 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
JBrowse link
G ASL argininosuccinate lyase EXP SMPDB SMP:00001 NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697
JBrowse link
G ASS1 argininosuccinate synthase 1 EXP SMPDB SMP:00001 NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 EXP SMPDB SMP:00001 NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
JBrowse link
G GLS2 glutaminase 2 EXP SMPDB SMP:00001 NCBI chr12:56,470,952...56,488,161
Ensembl chr12:56,470,944...56,488,414
JBrowse link
G GLUD1 glutamate dehydrogenase 1 EXP SMPDB SMP:00001 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 EXP SMPDB SMP:00001 NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342
JBrowse link
G GPT glutamic--pyruvic transaminase EXP SMPDB SMP:00001 NCBI chr 8:144,503,068...144,507,172
Ensembl chr 8:144,502,973...144,507,174
JBrowse link
G OTC ornithine transcarbamylase EXP SMPDB SMP:00001 NCBI chr  X:38,352,528...38,421,446
Ensembl chr  X:38,352,586...38,421,446
JBrowse link
G SLC1A4 solute carrier family 1 member 4 EXP SMPDB SMP:00001 NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865
JBrowse link
G SLC1A5 solute carrier family 1 member 5 EXP SMPDB SMP:00001 NCBI chr19:46,774,883...46,788,594
Ensembl chr19:46,774,883...46,788,594
JBrowse link
G SLC25A12 solute carrier family 25 member 12 EXP SMPDB SMP:00001 NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859
JBrowse link
G SLC25A15 solute carrier family 25 member 15 EXP SMPDB SMP:00001 NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460
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 EXP SMPDB SMP:00314 SMP:00318 NCBI chr 3:58,505,136...58,537,196
Ensembl chr 3:58,505,136...58,537,283
JBrowse link
G AKR1C4 aldo-keto reductase family 1 member C4 EXP SMPDB SMP:00314 SMP:00318 NCBI chr10:5,196,837...5,218,949
Ensembl chr10:5,195,462...5,218,949
JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 EXP SMPDB SMP:00314 SMP:00318 NCBI chr 7:138,076,459...138,118,305
Ensembl chr 7:138,002,324...138,118,305
JBrowse link
G AMACR alpha-methylacyl-CoA racemase EXP SMPDB SMP:00314 SMP:00318 NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104
JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase EXP SMPDB SMP:00314 SMP:00318 NCBI chr 9:101,360,417...101,385,006
Ensembl chr 9:101,354,182...101,385,400
JBrowse link
G CH25H cholesterol 25-hydroxylase EXP SMPDB SMP:00314 SMP:00318 NCBI chr10:89,205,629...89,207,317
Ensembl chr10:89,205,629...89,207,317
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 EXP SMPDB SMP:00314 SMP:00318 NCBI chr 2:218,781,733...218,815,293
Ensembl chr 2:218,781,749...218,815,293
JBrowse link
G CYP39A1 cytochrome P450 family 39 subfamily A member 1 EXP SMPDB SMP:00314 SMP:00318 NCBI chr 6:46,549,580...46,652,849
Ensembl chr 6:46,549,580...46,652,830
JBrowse link
G CYP46A1 cytochrome P450 family 46 subfamily A member 1 EXP SMPDB SMP:00314 SMP:00318 NCBI chr14:99,684,262...99,727,321
Ensembl chr14:99,684,298...99,727,301
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 EXP SMPDB SMP:00314 SMP:00318 NCBI chr 8:58,490,178...58,500,163
Ensembl chr 8:58,490,178...58,500,163
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 EXP SMPDB SMP:00314 SMP:00318 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 EXP SMPDB SMP:00314 SMP:00318 NCBI chr 3:42,872,192...42,875,879
Ensembl chr 3:42,856,005...42,875,898
JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 EXP SMPDB SMP:00314 SMP:00318 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 EXP SMPDB SMP:00314 SMP:00318 NCBI chr16:30,985,189...30,989,152
Ensembl chr16:30,985,207...30,989,147
JBrowse link
G LIPA lipase A, lysosomal acid type EXP SMPDB SMP:00314 SMP:00318 NCBI chr10:89,213,571...89,251,926
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G SCP2 sterol carrier protein 2 EXP SMPDB SMP:00314 SMP:00318 NCBI chr 1:52,927,276...53,051,698
Ensembl chr 1:52,927,276...53,051,698
JBrowse link
G SLC27A5 solute carrier family 27 member 5 EXP SMPDB SMP:00314 SMP:00318 NCBI chr19:58,498,333...58,512,028
Ensembl chr19:58,479,512...58,512,413
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 EXP SMPDB SMP:00557 NCBI chr 1:99,850,077...99,924,023
Ensembl chr 1:99,850,361...99,924,023
JBrowse link
G AMY1A amylase alpha 1A EXP SMPDB SMP:00557 NCBI chr 1:103,655,519...103,664,554
Ensembl chr 1:103,655,760...103,664,554
JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 EXP SMPDB SMP:00557 NCBI chr 3:81,489,703...81,761,645
Ensembl chr 3:81,489,703...81,761,645
JBrowse link
G GCK glucokinase EXP SMPDB SMP:00557 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
JBrowse link
G GPI glucose-6-phosphate isomerase EXP SMPDB SMP:00557 NCBI chr19:34,353,330...34,402,413
Ensembl chr19:34,359,480...34,402,413
JBrowse link
G GUSB glucuronidase beta EXP SMPDB SMP:00557 NCBI chr 7:65,960,684...65,982,230
Ensembl chr 7:65,960,684...65,982,215
JBrowse link
G GYS2 glycogen synthase 2 EXP SMPDB SMP:00557 NCBI chr12:21,531,527...21,604,858
Ensembl chr12:21,536,107...21,604,847
JBrowse link
G HK2 hexokinase 2 EXP SMPDB SMP:00557 NCBI chr 2:74,834,126...74,893,359
Ensembl chr 2:74,834,127...74,893,359
JBrowse link
G MGAM maltase-glucoamylase EXP SMPDB SMP:00557 NCBI chr 7:141,986,517...142,106,747
Ensembl chr 7:141,907,813...142,106,747
JBrowse link
G PGM1 phosphoglucomutase 1 EXP SMPDB SMP:00557 NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245
JBrowse link
G PGM2L1 phosphoglucomutase 2 like 1 EXP SMPDB SMP:00557 NCBI chr11:74,330,316...74,398,751
Ensembl chr11:74,330,316...74,398,433
JBrowse link
G PYGL glycogen phosphorylase L EXP SMPDB SMP:00557 NCBI chr14:50,905,217...50,944,483
Ensembl chr14:50,857,891...50,944,483
JBrowse link
G SI sucrase-isomaltase EXP SMPDB SMP:00557 NCBI chr 3:164,978,898...165,078,496
Ensembl chr 3:164,978,898...165,078,496
JBrowse link
G UGDH UDP-glucose 6-dehydrogenase EXP SMPDB SMP:00557 NCBI chr 4:39,498,755...39,527,439
Ensembl chr 4:39,498,755...39,528,311
JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 EXP SMPDB SMP:00557 NCBI chr 2:63,840,969...63,891,562
Ensembl chr 2:63,840,952...63,891,562
JBrowse link
G UGT2B11 UDP glucuronosyltransferase family 2 member B11 EXP SMPDB SMP:00557 NCBI chr 4:69,199,951...69,224,980
Ensembl chr 4:69,199,951...69,214,748
JBrowse link
cystathioninuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBS cystathionine beta-synthase EXP SMPDB SMP:00514 NCBI chr21:43,053,190...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CTH cystathionine gamma-lyase EXP SMPDB SMP:00514 NCBI chr 1:70,411,268...70,441,949
Ensembl chr 1:70,411,218...70,439,851
JBrowse link
cystinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP1 aquaporin 1 (Colton blood group) EXP SMPDB SMP:00723 NCBI chr 7:30,911,853...30,925,516
Ensembl chr 7:30,911,853...30,925,517
JBrowse link
G AQP2 aquaporin 2 EXP SMPDB SMP:00723 NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878
JBrowse link
G AQP3 aquaporin 3 (Gill blood group) EXP SMPDB SMP:00723 NCBI chr 9:33,441,154...33,447,596
Ensembl chr 9:33,441,156...33,447,596
JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 EXP SMPDB SMP:00723 NCBI chr 1:116,372,986...116,410,259
Ensembl chr 1:116,372,668...116,410,261
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 EXP SMPDB SMP:00723 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 EXP SMPDB SMP:00723 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
JBrowse link
G ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 EXP SMPDB SMP:00723 NCBI chr 1:160,151,603...160,186,980
Ensembl chr 1:160,151,586...160,186,980
JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 EXP SMPDB SMP:00723 NCBI chr 1:169,106,690...169,132,719
Ensembl chr 1:169,105,697...169,132,722
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 EXP SMPDB SMP:00723 NCBI chr17:7,646,627...7,657,770
Ensembl chr17:7,646,627...7,657,770
JBrowse link
G ATP1B3 ATPase Na+/K+ transporting subunit beta 3 EXP SMPDB SMP:00723 NCBI chr 3:141,876,643...141,926,549
Ensembl chr 3:141,876,124...141,926,549
JBrowse link
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 EXP SMPDB SMP:00723 NCBI chr  X:120,362,085...120,383,237
Ensembl chr  X:120,362,085...120,383,249
JBrowse link
G CLCNKA chloride voltage-gated channel Ka EXP SMPDB SMP:00723 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050
JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 EXP SMPDB SMP:00723 NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698
JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 EXP SMPDB SMP:00723 NCBI chr 4:148,078,764...148,444,698
Ensembl chr 4:148,078,762...148,444,698
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha EXP SMPDB SMP:00723 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta EXP SMPDB SMP:00723 NCBI chr16:23,278,231...23,381,295
Ensembl chr16:23,278,231...23,381,294
JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta EXP SMPDB SMP:00723 NCBI chr 1:1,280,436...1,292,025
Ensembl chr 1:1,280,436...1,292,029
JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma EXP SMPDB SMP:00723 NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883
JBrowse link
G SLC12A1 solute carrier family 12 member 1 EXP SMPDB SMP:00723 NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078
JBrowse link
G SLC12A3 solute carrier family 12 member 3 EXP SMPDB SMP:00723 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
JBrowse link
G SLC12A6 solute carrier family 12 member 6 EXP SMPDB SMP:00723 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060
JBrowse link
G SLC14A2 solute carrier family 14 member 2 EXP SMPDB SMP:00723 NCBI chr18:45,167,963...45,683,688
Ensembl chr18:45,212,995...45,683,688
JBrowse link
G SLC1A1 solute carrier family 1 member 1 EXP SMPDB SMP:00723 NCBI chr 9:4,490,466...4,587,469
Ensembl chr 9:4,490,468...4,587,469
JBrowse link
G SLC22A2 solute carrier family 22 member 2 EXP SMPDB SMP:00723 NCBI chr 6:160,216,755...160,258,821
Ensembl chr 6:160,171,061...160,277,638
JBrowse link
G SLC22A6 solute carrier family 22 member 6 EXP SMPDB SMP:00723 NCBI chr11:62,976,597...62,984,967
Ensembl chr11:62,936,385...62,984,967
JBrowse link
G SLC38A4 solute carrier family 38 member 4 EXP SMPDB SMP:00723 NCBI chr12:46,764,761...46,832,422
Ensembl chr12:46,764,761...46,832,408
JBrowse link
G SLC3A1 solute carrier family 3 member 1 EXP SMPDB SMP:00723 NCBI chr 2:44,275,464...44,321,494
Ensembl chr 2:44,275,458...44,321,494
JBrowse link
G SLC3A2 solute carrier family 3 member 2 EXP SMPDB SMP:00723 NCBI chr11:62,856,109...62,888,860
Ensembl chr11:62,856,004...62,888,880
JBrowse link
G SLC6A20 solute carrier family 6 member 20 EXP SMPDB SMP:00723 NCBI chr 3:45,755,449...45,796,553
Ensembl chr 3:45,755,449...45,796,536
JBrowse link
G SLC7A5 solute carrier family 7 member 5 EXP SMPDB SMP:00723 NCBI chr16:87,830,022...87,869,507
Ensembl chr16:87,830,023...87,869,507
JBrowse link
G SLC7A6 solute carrier family 7 member 6 EXP SMPDB SMP:00723 NCBI chr16:68,264,510...68,301,819
Ensembl chr16:68,264,516...68,301,823
JBrowse link
G SLC7A7 solute carrier family 7 member 7 EXP SMPDB SMP:00723 NCBI chr14:22,773,222...22,819,796
Ensembl chr14:22,773,222...22,829,820
JBrowse link
G SLC7A8 solute carrier family 7 member 8 EXP SMPDB SMP:00723 NCBI chr14:23,125,295...23,183,660
Ensembl chr14:23,125,295...23,183,674
JBrowse link
G SLC7A9 solute carrier family 7 member 9 EXP SMPDB SMP:00723 NCBI chr19:32,830,511...32,870,957
Ensembl chr19:32,830,509...32,869,767
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 EXP SMPDB SMP:00529 NCBI chr 6:32,168,212...32,178,108
Ensembl chr 6:32,168,212...32,178,096
JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B EXP SMPDB SMP:00529 NCBI chr 7:134,442,350...134,459,239
Ensembl chr 7:134,442,356...134,459,284
JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 EXP SMPDB SMP:00529 NCBI chr17:19,737,984...19,748,390
Ensembl chr17:19,737,984...19,748,943
JBrowse link
G DGKA diacylglycerol kinase alpha EXP SMPDB SMP:00529 NCBI chr12:55,931,091...55,954,023
Ensembl chr12:55,927,319...55,954,027
JBrowse link
G GK glycerol kinase EXP SMPDB SMP:00529 NCBI chr  X:30,653,348...30,731,462
Ensembl chr  X:30,653,359...30,731,462
JBrowse link
G GLYCTK glycerate kinase EXP SMPDB SMP:00529 NCBI chr 3:52,287,558...52,295,257
Ensembl chr 3:52,287,089...52,295,257
JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial EXP SMPDB SMP:00529 NCBI chr10:112,149,865...112,216,306
Ensembl chr10:112,149,865...112,215,377
JBrowse link
G GPD1 glycerol-3-phosphate dehydrogenase 1 EXP SMPDB SMP:00529 NCBI chr12:50,104,008...50,111,313
Ensembl chr12:50,103,982...50,111,313
JBrowse link
G GPD2 glycerol-3-phosphate dehydrogenase 2 EXP SMPDB SMP:00529 NCBI chr 2:156,435,290...156,586,403
Ensembl chr 2:156,435,290...156,613,735
JBrowse link
G LIPC lipase C, hepatic type EXP SMPDB SMP:00529 NCBI chr15:58,410,457...58,569,844
Ensembl chr15:58,410,569...58,569,844
JBrowse link
G LPL lipoprotein lipase EXP SMPDB SMP:00529 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
JBrowse link
G PLPP1 phospholipid phosphatase 1 EXP SMPDB SMP:00529 NCBI chr 5:55,424,850...55,535,075
Ensembl chr 5:55,424,854...55,534,969
JBrowse link
G PLPP2 phospholipid phosphatase 2 EXP SMPDB SMP:00529 NCBI chr19:281,043...291,413
Ensembl chr19:281,040...291,403
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 EXP SMPDB SMP:00386 NCBI chr 6:159,762,045...159,779,112
Ensembl chr 6:159,762,045...159,779,112
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 EXP SMPDB SMP:00386 NCBI chr 7:92,112,153...92,134,803
Ensembl chr 7:92,112,153...92,134,803
JBrowse link
G DHCR24 24-dehydrocholesterol reductase EXP SMPDB SMP:00386 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
JBrowse link
G EBP EBP cholestenol delta-isomerase EXP SMPDB SMP:00386 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 EXP SMPDB SMP:00386 NCBI chr 8:11,795,582...11,839,309
Ensembl chr 8:11,795,573...11,839,304
JBrowse link
G FDPS farnesyl diphosphate synthase EXP SMPDB SMP:00386 NCBI chr 1:155,308,801...155,320,665
Ensembl chr 1:155,308,748...155,320,666
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 EXP SMPDB SMP:00386 NCBI chr 1:235,327,216...235,344,532
Ensembl chr 1:235,327,350...235,344,532
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase EXP SMPDB SMP:00386 NCBI chr 5:75,336,334...75,362,116
Ensembl chr 5:75,336,329...75,364,001
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 EXP SMPDB SMP:00386 NCBI chr 5:43,287,470...43,313,477
Ensembl chr 5:43,287,470...43,313,512
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 EXP SMPDB SMP:00386 NCBI chr 1:162,790,702...162,812,823
Ensembl chr 1:162,790,702...162,812,823
JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 EXP SMPDB SMP:00386 NCBI chr10:1,039,152...1,056,704
Ensembl chr10:1,039,152...1,049,119
JBrowse link
G LIPA lipase A, lysosomal acid type EXP SMPDB SMP:00386 NCBI chr10:89,213,571...89,251,926
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G LSS lanosterol synthase EXP SMPDB SMP:00386 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
JBrowse link
G MSMO1 methylsterol monooxygenase 1 EXP SMPDB SMP:00386 NCBI chr 4:165,327,669...165,343,164
Ensembl chr 4:165,327,667...165,343,164
JBrowse link
G MVD mevalonate diphosphate decarboxylase EXP SMPDB SMP:00386 NCBI chr16:88,651,935...88,663,153
Ensembl chr16:88,651,935...88,663,161
JBrowse link
G MVK mevalonate kinase EXP SMPDB SMP:00386 NCBI chr12:109,573,461...109,598,125
Ensembl chr12:109,573,255...109,598,125
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like EXP SMPDB SMP:00386 NCBI chr  X:152,831,001...152,869,729
Ensembl chr  X:152,830,967...152,869,729
JBrowse link
G PMVK phosphomevalonate kinase EXP SMPDB SMP:00386 NCBI chr 1:154,924,740...154,942,658
Ensembl chr 1:154,924,740...154,936,719
JBrowse link
G SC5D sterol-C5-desaturase EXP SMPDB SMP:00386 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
JBrowse link
G SOAT1 sterol O-acyltransferase 1 EXP SMPDB SMP:00386 NCBI chr 1:179,293,719...179,358,680
Ensembl chr 1:179,293,714...179,358,680
JBrowse link
G SQLE squalene epoxidase EXP SMPDB SMP:00386 NCBI chr 8:124,998,505...125,022,283
Ensembl chr 8:124,998,497...125,022,283
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 EXP SMPDB SMP:00386 NCBI chr11:65,111,872...65,116,230
Ensembl chr11:65,111,845...65,116,384
JBrowse link
diabetes mellitus pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 ISO RGD PMID:18025464 RGD:2301904 NCBI chr11:17,392,498...17,476,849
Ensembl chr11:17,392,498...17,476,894
JBrowse link
G SOD3 superoxide dismutase 3 IDA RGD PMID:12830380 RGD:1581299 NCBI chr 4:24,795,478...24,800,845
Ensembl chr 4:24,789,912...24,800,842
JBrowse link
diabetic nephropathy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1B1 aldo-keto reductase family 1 member B ISS RGD PMID:9215310 RGD:734542 NCBI chr 7:134,442,350...134,459,239
Ensembl chr 7:134,442,356...134,459,284
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:16528250 RGD:1581322 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
JBrowse link
dihydropyrimidinase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK3 adenylate kinase 3 EXP SMPDB SMP:00178 NCBI chr 9:4,709,556...4,742,043
Ensembl chr 9:4,709,556...4,742,043
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase EXP SMPDB SMP:00178 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943
JBrowse link
G CANT1 calcium activated nucleotidase 1 EXP SMPDB SMP:00178 NCBI chr17:78,991,716...79,009,793
Ensembl chr17:78,991,716...79,009,867
JBrowse link
G CDA cytidine deaminase EXP SMPDB SMP:00178 NCBI chr 1:20,589,097...20,618,903
Ensembl chr 1:20,589,086...20,618,903
JBrowse link
G CMPK2 cytidine/uridine monophosphate kinase 2 EXP SMPDB SMP:00178 NCBI chr 2:6,840,417...6,866,635
Ensembl chr 2:6,840,570...6,866,635
JBrowse link
G CTPS1 CTP synthase 1 EXP SMPDB SMP:00178 NCBI chr 1:40,979,696...41,012,565
Ensembl chr 1:40,979,688...41,012,565
JBrowse link
G DCTD dCMP deaminase EXP SMPDB SMP:00178 NCBI chr 4:182,890,091...182,917,611
Ensembl chr 4:182,890,060...182,917,936
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) EXP SMPDB SMP:00178 NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664
JBrowse link
G DPYD dihydropyrimidine dehydrogenase EXP SMPDB SMP:00178 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
JBrowse link
G DPYS dihydropyrimidinase EXP SMPDB SMP:00178 NCBI chr 8:104,379,429...104,467,074
Ensembl chr 8:104,330,324...104,467,055
JBrowse link
G DUT deoxyuridine triphosphatase EXP SMPDB SMP:00178 NCBI chr15:48,329,991...48,343,373
Ensembl chr15:48,331,011...48,343,373
JBrowse link
G GDA guanine deaminase EXP SMPDB SMP:00178 NCBI chr 9:72,114,595...72,256,045
Ensembl chr 9:72,114,595...72,257,193
JBrowse link
G ITPA inosine triphosphatase EXP SMPDB SMP:00178 NCBI chr20:3,208,676...3,227,449
Ensembl chr20:3,208,868...3,223,870
JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 EXP SMPDB SMP:00178 NCBI chr 3:48,288,402...48,302,904
Ensembl chr 3:48,290,722...48,301,685
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II EXP SMPDB SMP:00178 NCBI chr10:103,088,017...103,193,301
Ensembl chr10:103,087,185...103,277,605
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 EXP SMPDB SMP:00178 NCBI chr 2:10,122,568...10,211,010
Ensembl chr 2:10,120,698...10,211,725
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B EXP SMPDB SMP:00178 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
JBrowse link
G TK1 thymidine kinase 1 EXP SMPDB SMP:00178 NCBI chr17:78,174,079...78,187,204
Ensembl chr17:78,174,091...78,187,233
JBrowse link
G TYMP thymidine phosphorylase EXP SMPDB SMP:00178 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link
G TYMS thymidylate synthetase EXP SMPDB SMP:00178 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
JBrowse link
G UCKL1 uridine-cytidine kinase 1 like 1 EXP SMPDB SMP:00178 NCBI chr20:63,939,829...63,956,447
Ensembl chr20:63,939,829...63,956,416
JBrowse link
G UMPS uridine monophosphate synthetase EXP SMPDB SMP:00178 NCBI chr 3:124,730,442...124,749,273
Ensembl chr 3:124,730,433...124,749,273
JBrowse link
G UPB1 beta-ureidopropionase 1 EXP SMPDB SMP:00178 NCBI chr22:24,495,060...24,528,681
Ensembl chr22:24,494,107...24,528,390
JBrowse link
G UPP2 uridine phosphorylase 2 EXP SMPDB SMP:00178 NCBI chr 2:157,995,179...158,136,154
Ensembl chr 2:157,876,702...158,136,154
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 EXP SMPDB SMP:00179 NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502
JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 EXP SMPDB SMP:00179 NCBI chr 3:52,198,083...52,214,327
Ensembl chr 3:52,198,086...52,214,327
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member EXP SMPDB SMP:00179 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
JBrowse link
G AMT aminomethyltransferase EXP SMPDB SMP:00179 NCBI chr 3:49,416,778...49,422,473
Ensembl chr 3:49,416,778...49,422,685
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase EXP SMPDB SMP:00179 NCBI chr 5:79,111,809...79,132,288
Ensembl chr 5:79,111,809...79,132,288
JBrowse link
G CBS cystathionine beta-synthase EXP SMPDB SMP:00179 NCBI chr21:43,053,190...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CTH cystathionine gamma-lyase EXP SMPDB SMP:00179 NCBI chr 1:70,411,268...70,441,949
Ensembl chr 1:70,411,218...70,439,851
JBrowse link
G DLD dihydrolipoamide dehydrogenase EXP SMPDB SMP:00179 NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730
JBrowse link
G DMGDH dimethylglycine dehydrogenase EXP SMPDB SMP:00179 NCBI chr 5:78,997,564...79,069,674
Ensembl chr 5:78,997,564...79,236,038
JBrowse link
G GAMT guanidinoacetate N-methyltransferase EXP SMPDB SMP:00179 NCBI chr19:1,397,026...1,401,542
Ensembl chr19:1,397,026...1,401,570
JBrowse link
G GARS1 glycyl-tRNA synthetase 1 EXP SMPDB SMP:00179 NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033
JBrowse link
G GATM glycine amidinotransferase EXP SMPDB SMP:00179 NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327
JBrowse link
G GCAT glycine C-acetyltransferase EXP SMPDB SMP:00179 NCBI chr22:37,807,894...37,817,183
Ensembl chr22:37,807,905...37,817,176
JBrowse link
G GLDC glycine decarboxylase EXP SMPDB SMP:00179 NCBI chr 9:6,532,467...6,645,729
Ensembl chr 9:6,532,467...6,645,729
JBrowse link
G GLYCTK glycerate kinase EXP SMPDB SMP:00179 NCBI chr 3:52,287,558...52,295,257
Ensembl chr 3:52,287,089...52,295,257
JBrowse link
G GNMT glycine N-methyltransferase EXP SMPDB SMP:00179 NCBI chr 6:42,960,754...42,963,880
Ensembl chr 6:42,960,754...42,963,880
JBrowse link
G MAOA monoamine oxidase A EXP SMPDB SMP:00179 NCBI chr  X:43,655,006...43,746,817
Ensembl chr  X:43,654,907...43,746,824
JBrowse link
G PHGDH phosphoglycerate dehydrogenase EXP SMPDB SMP:00179 NCBI chr 1:119,711,934...119,744,218
Ensembl chr 1:119,648,411...119,744,218
JBrowse link
G PSAT1 phosphoserine aminotransferase 1 EXP SMPDB SMP:00179 NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093
JBrowse link
G PSPH phosphoserine phosphatase EXP SMPDB SMP:00179 NCBI chr 7:56,010,487...56,051,604
Ensembl chr 7:56,011,051...56,051,604
JBrowse link
G SARDH sarcosine dehydrogenase EXP SMPDB SMP:00179 NCBI chr 9:133,663,074...133,739,958
Ensembl chr 9:133,663,560...133,739,955
JBrowse link
G SARS1 seryl-tRNA synthetase 1 EXP SMPDB SMP:00179 NCBI chr 1:109,213,893...109,238,182
Ensembl chr 1:109,213,918...109,238,182
JBrowse link
G SDS serine dehydratase EXP SMPDB SMP:00179 NCBI chr12:113,392,445...113,403,887
Ensembl chr12:113,392,445...113,426,301
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 EXP SMPDB SMP:00179 NCBI chr17:18,327,873...18,363,560
Ensembl chr17:18,327,860...18,363,563
JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 EXP SMPDB SMP:00179 NCBI chr12:57,229,685...57,234,935
Ensembl chr12:57,229,573...57,234,935
JBrowse link
G SRR serine racemase EXP SMPDB SMP:00179 NCBI chr17:2,303,371...2,325,267
Ensembl chr17:2,303,383...2,325,260
JBrowse link
dimethylglycine dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate and serine--pyruvate aminotransferase EXP SMPDB SMP:00242 SMP:00484 NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502
JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 EXP SMPDB SMP:00242 SMP:00484 NCBI chr 3:52,198,083...52,214,327
Ensembl chr 3:52,198,086...52,214,327
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member EXP SMPDB SMP:00242 SMP:00484 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
JBrowse link
G AMT aminomethyltransferase EXP SMPDB SMP:00242 SMP:00484 NCBI chr 3:49,416,778...49,422,473
Ensembl chr 3:49,416,778...49,422,685
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase EXP SMPDB SMP:00242 SMP:00484 NCBI chr 5:79,111,809...79,132,288
Ensembl chr 5:79,111,809...79,132,288
JBrowse link
G CBS cystathionine beta-synthase EXP SMPDB SMP:00242 SMP:00484 NCBI chr21:43,053,190...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CTH cystathionine gamma-lyase EXP SMPDB SMP:00242 SMP:00484 NCBI chr 1:70,411,268...70,441,949
Ensembl chr 1:70,411,218...70,439,851
JBrowse link
G DLD dihydrolipoamide dehydrogenase EXP SMPDB SMP:00242 SMP:00484 NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730
JBrowse link
G DMGDH dimethylglycine dehydrogenase EXP SMPDB SMP:00242 SMP:00484 NCBI chr 5:78,997,564...79,069,674
Ensembl chr 5:78,997,564...79,236,038
JBrowse link
G GAMT guanidinoacetate N-methyltransferase EXP SMPDB SMP:00242 SMP:00484 NCBI chr19:1,397,026...1,401,542
Ensembl chr19:1,397,026...1,401,570
JBrowse link
G GARS1 glycyl-tRNA synthetase 1 EXP SMPDB SMP:00242 SMP:00484 NCBI chr 7:30,594,73