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PATHWAY ONTOLOGY - ANNOTATIONS

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

Term:inborn error of amino acid metabolism pathway
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Accession:PW:0001645 term browser browse the term
Definition:Those diseases that are caused by inborn errors of amino acid metabolism. The mutations can disrupt one or several pathways.
Synonyms:exact_synonym: inborn error of amino acid metabolism disease pathway


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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 7:122,073,549...122,144,255
Ensembl chr 7:122,073,549...122,144,255
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...108,035,175
Ensembl chr 4:107,989,714...108,035,175
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
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 chr11:134,253,495...134,265,855
Ensembl chr11:134,253,495...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 1:75,724,347...75,787,575
Ensembl chr 1:75,724,347...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
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...91,361,913
Ensembl chr 9:91,213,815...91,361,913
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
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
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 5:71,587,288...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-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 chr11:134,253,495...134,265,855
Ensembl chr11:134,253,495...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 1:75,724,347...75,787,575
Ensembl chr 1:75,724,347...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
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...91,361,913
Ensembl chr 9:91,213,815...91,361,913
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
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
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 5:71,587,288...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 chr11:134,253,495...134,265,855
Ensembl chr11:134,253,495...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 1:75,724,347...75,787,575
Ensembl chr 1:75,724,347...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
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...91,361,913
Ensembl chr 9:91,213,815...91,361,913
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
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
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 5:71,587,288...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
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...18,902,580
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
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 chr22:19,941,733...19,969,975
Ensembl chr22:19,941,733...19,969,975
Ensembl chr22:19,941,733...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
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...2,171,877
Ensembl chr11:2,163,929...2,171,877
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
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
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
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
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
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
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
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 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033
Ensembl chr 7:30,580,533...30,634,033
JBrowse link
G GATM glycine amidinotransferase EXP SMPDB SMP:00242 SMP:00484 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:00242 SMP:00484 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:00242 SMP:00484 NCBI chr 9:6,532,467...6,645,729
Ensembl chr 9:6,532,464...6,645,783
Ensembl chr 9:6,532,464...6,645,783
JBrowse link
G GLYCTK glycerate kinase EXP SMPDB SMP:00242 SMP:00484 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:00242 SMP:00484 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:00242 SMP:00484 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:00242 SMP:00484 NCBI chr 1:119,711,934...119,744,218
Ensembl chr 1:119,648,411...119,744,218
Ensembl chr 1:119,648,411...119,744,218
JBrowse link
G PSAT1 phosphoserine aminotransferase 1 EXP SMPDB SMP:00242 SMP:00484 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:00242 SMP:00484 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:00242 SMP:00484 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:00242 SMP:00484 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:00242 SMP:00484 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:00242 SMP:00484 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:00242 SMP:00484 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:00242 SMP:00484 NCBI chr17:2,303,371...2,325,267
Ensembl chr17:2,303,383...2,325,260
JBrowse link
GABA aminotransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase EXP SMPDB SMP:00351 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:00351 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:00351 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:00351 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:00351 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:00351 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:00351 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:00351 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:00351 NCBI chr22:24,495,060...24,528,681
Ensembl chr22:24,494,107...24,528,390
JBrowse link
glutaric aciduria type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AADAT aminoadipate aminotransferase EXP SMPDB SMP:00186 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:00186 NCBI chr 7:122,073,544...122,144,269
Ensembl chr 7:122,073,549...122,144,255
Ensembl chr 7:122,073,549...122,144,255
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 EXP SMPDB SMP:00185 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:00185 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:00185 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,347...75,787,575
Ensembl chr 1:75,724,347...75,787,575
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00185 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:00185 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
Ensembl chr10:123,008,979...123,058,290
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain EXP SMPDB SMP:00185 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:00185 SMP:00186 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:00185 NCBI chr 4:184,755,595...184,826,593
Ensembl chr 4:184,755,595...184,826,818
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 EXP SMPDB SMP:00186 NCBI chr 5:126,541,841...126,595,219
Ensembl chr 5:126,531,200...126,595,362
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A EXP SMPDB SMP:00185 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:00185 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 EXP SMPDB SMP:00186 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:00186 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:00186 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:00185 SMP:00186 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:00185 SMP:00186 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:00186 NCBI chr 4:107,989,839...108,035,171
Ensembl chr 4:107,989,714...108,035,175
Ensembl chr 4:107,989,714...108,035,175
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha EXP SMPDB SMP:00185 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:00185 NCBI chr 2:26,244,917...26,290,465
Ensembl chr 2:26,243,170...26,290,465
JBrowse link
G PIPOX pipecolic acid and sarcosine oxidase EXP SMPDB SMP:00186 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:00186 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:00186 NCBI chr 8:17,494,349...17,570,566
Ensembl chr 8:17,497,088...17,570,573
JBrowse link
glutathione synthase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANPEP alanyl aminopeptidase, membrane EXP SMPDB SMP:00143 SMP:00337 NCBI chr15:89,784,895...89,814,852
Ensembl chr15:89,784,895...89,815,401
JBrowse link
G CASP7 caspase 7 EXP SMPDB SMP:00143 SMP:00337 NCBI chr10:113,679,194...113,730,909
Ensembl chr10:113,679,162...113,730,907
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit EXP SMPDB SMP:00143 SMP:00337 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:00143 SMP:00337 NCBI chr 1:93,885,199...93,910,370
Ensembl chr 1:93,885,199...93,909,456
JBrowse link
G GGCT gamma-glutamylcyclotransferase EXP SMPDB SMP:00143 SMP:00337 NCBI chr 7:30,496,621...30,504,829
Ensembl chr 7:30,496,621...30,504,841
JBrowse link
G GGT6 gamma-glutamyltransferase 6 EXP SMPDB SMP:00143 SMP:00337 NCBI chr17:4,556,927...4,560,920
Ensembl chr17:4,556,927...4,560,818
JBrowse link
G GPX1 glutathione peroxidase 1 EXP SMPDB SMP:00143 SMP:00337 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,176...49,358,358
Ensembl chr 3:49,357,176...49,358,358
JBrowse link
G GSR glutathione-disulfide reductase EXP SMPDB SMP:00143 SMP:00337 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:00143 SMP:00337 NCBI chr20:34,928,432...34,956,027
Ensembl chr20:34,928,432...34,956,027
JBrowse link
G GSTO2 glutathione S-transferase omega 2 EXP SMPDB SMP:00143 SMP:00337 NCBI chr10:104,267,626...104,304,950
Ensembl chr10:104,268,873...104,304,950
JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing EXP SMPDB SMP:00143 SMP:00337 NCBI chr 8:144,051,266...144,064,026
Ensembl chr 8:144,051,266...144,063,965
JBrowse link
glutathionuria disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANPEP alanyl aminopeptidase, membrane EXP SMPDB SMP:00501 NCBI chr15:89,784,895...89,814,852
Ensembl chr15:89,784,895...89,815,401
JBrowse link
G CASP7 caspase 7 EXP SMPDB SMP:00501 NCBI chr10:113,679,194...113,730,909
Ensembl chr10:113,679,162...113,730,907
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit EXP SMPDB SMP:00501 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:00501 NCBI chr 1:93,885,199...93,910,370
Ensembl chr 1:93,885,199...93,909,456
JBrowse link
G GGCT gamma-glutamylcyclotransferase EXP SMPDB SMP:00501 NCBI chr 7:30,496,621...30,504,829
Ensembl chr 7:30,496,621...30,504,841
JBrowse link
G GGT6 gamma-glutamyltransferase 6 EXP SMPDB SMP:00501 NCBI chr17:4,556,927...4,560,920
Ensembl chr17:4,556,927...4,560,818
JBrowse link
G GPX1 glutathione peroxidase 1 EXP SMPDB SMP:00501 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,176...49,358,358
Ensembl chr 3:49,357,176...49,358,358
JBrowse link
G GSR glutathione-disulfide reductase EXP SMPDB SMP:00501 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:00501 NCBI chr20:34,928,432...34,956,027
Ensembl chr20:34,928,432...34,956,027
JBrowse link
G GSTO2 glutathione S-transferase omega 2 EXP SMPDB SMP:00501 NCBI chr10:104,267,626...104,304,950
Ensembl chr10:104,268,873...104,304,950
JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing EXP SMPDB SMP:00501 NCBI chr 8:144,051,266...144,064,026
Ensembl chr 8:144,051,266...144,063,965
JBrowse link
glycine N-methyltransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase EXP SMPDB SMP:00222 NCBI chr20:34,235,012...34,311,976
Ensembl chr20:34,280,268...34,311,802
JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 EXP SMPDB SMP:00222 NCBI chr 6:110,814,617...110,895,713
Ensembl chr 6:110,874,770...110,898,879
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase EXP SMPDB SMP:00222 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:00222 NCBI chr21:43,053,190...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CHDH choline dehydrogenase EXP SMPDB SMP:00222 NCBI chr 3:53,812,335...53,846,464
Ensembl chr 3:53,812,335...53,846,419
JBrowse link
G CTH cystathionine gamma-lyase EXP SMPDB SMP:00222 NCBI chr 1:70,411,268...70,441,949
Ensembl chr 1:70,411,218...70,439,851
JBrowse link
G DNMT1 DNA methyltransferase 1 EXP SMPDB SMP:00222 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,345...10,231,286
Ensembl chr19:10,133,345...10,231,286
JBrowse link
G IL4I1 interleukin 4 induced 1 EXP SMPDB SMP:00222 NCBI chr19:49,889,654...49,929,504
Ensembl chr19:49,889,654...49,929,539
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 EXP SMPDB SMP:00222 NCBI chr12:57,488,068...57,516,655
Ensembl chr12:57,475,445...57,517,569
JBrowse link
G MAT2A methionine adenosyltransferase 2A EXP SMPDB SMP:00222 NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281
JBrowse link
G MAT2B methionine adenosyltransferase 2B EXP SMPDB SMP:00222 NCBI chr 5:163,503,064...163,519,354
Ensembl chr 5:163,503,114...163,519,354
JBrowse link
G MSRB2 methionine sulfoxide reductase B2 EXP SMPDB SMP:00222 NCBI chr10:23,095,564...23,122,013
Ensembl chr10:23,095,579...23,122,013
JBrowse link
G MSRB3 methionine sulfoxide reductase B3 EXP SMPDB SMP:00222 NCBI chr12:65,278,593...65,466,907
Ensembl chr12:65,278,643...65,491,430
JBrowse link
G MTAP methylthioadenosine phosphorylase EXP SMPDB SMP:00222 NCBI chr 9:21,802,636...21,867,081
Ensembl chr 9:21,802,636...21,937,651
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase EXP SMPDB SMP:00222 NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639
JBrowse link
G MTHFR methylenetetrahydrofolate reductase EXP SMPDB SMP:00222 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase EXP SMPDB SMP:00222 NCBI chr 1:236,794,304...236,903,981
Ensembl chr 1:236,795,292...236,921,278
Ensembl chr 1:236,795,292...236,921,278
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 EXP SMPDB SMP:00222 NCBI chr17:18,327,873...18,363,560
Ensembl chr17:18,327,860...18,363,563
JBrowse link
G SRM spermidine synthase EXP SMPDB SMP:00222 NCBI chr 1:11,054,589...11,060,053
Ensembl chr 1:11,054,584...11,060,020
JBrowse link
hawkinsinuria 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:00190 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:00190 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:00190 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:00190 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,733...19,969,975
Ensembl chr22:19,941,733...19,969,975
Ensembl chr22:19,941,733...19,969,975
JBrowse link
G DBH dopamine beta-hydroxylase EXP SMPDB SMP:00190 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:00190 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:00190 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:00190 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:00190 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:00190 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:00190 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:00190 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:00190 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:00190 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:00190 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:00190 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:00190 NCBI chr16:71,565,660...71,577,092
Ensembl chr16:71,565,660...71,577,092
JBrowse link
G TYR tyrosinase EXP SMPDB SMP:00190 NCBI chr11:89,177,565...89,295,759
Ensembl chr11:89,177,875...89,295,759
JBrowse link
histidinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH2 aldehyde dehydrogenase 2 family member EXP SMPDB SMP:00191 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 EXP SMPDB SMP:00191 NCBI chr17:19,737,984...19,748,390
Ensembl chr17:19,737,984...19,748,943
JBrowse link
G AMDHD1 amidohydrolase domain containing 1 EXP SMPDB SMP:00191 NCBI chr12:95,943,331...95,968,720
Ensembl chr12:95,943,331...95,968,720
JBrowse link
G AOC1 amine oxidase copper containing 1 EXP SMPDB SMP:00191 NCBI chr 7:150,824,875...150,861,504
Ensembl chr 7:150,824,627...150,861,504
JBrowse link
G CARNMT1 carnosine N-methyltransferase 1 EXP SMPDB SMP:00191 NCBI chr 9:74,980,790...75,028,456
Ensembl chr 9:74,980,790...75,028,423
JBrowse link
G CARNS1 carnosine synthase 1 EXP SMPDB SMP:00191 NCBI chr11:67,415,678...67,425,607
Ensembl chr11:67,414,968...67,425,607
JBrowse link
G CNDP1 carnosine dipeptidase 1 EXP SMPDB SMP:00191 NCBI chr18:74,534,500...74,587,212
Ensembl chr18:74,534,500...74,587,212
JBrowse link
G CNDP2 carnosine dipeptidase 2 EXP SMPDB SMP:00191 NCBI chr18:74,496,363...74,523,454
Ensembl chr18:74,495,816...74,523,454
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase EXP SMPDB SMP:00191 NCBI chr21:46,135,981...46,156,482
Ensembl chr21:46,136,262...46,155,579
JBrowse link
G HAL histidine ammonia-lyase EXP SMPDB SMP:00191 NCBI chr12:95,972,662...95,996,344
Ensembl chr12:95,972,662...95,996,365
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 EXP SMPDB SMP:00191 NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
Ensembl chr 5:140,673,035...140,691,537
JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial EXP SMPDB SMP:00191 NCBI chr 5:140,691,455...140,699,305
Ensembl chr 5:140,691,430...140,699,305
JBrowse link
G HDC histidine decarboxylase EXP SMPDB SMP:00191 NCBI chr15:50,241,945...50,266,049
Ensembl chr15:50,241,947...50,265,965
JBrowse link
G HNMT histamine N-methyltransferase EXP SMPDB SMP:00191 NCBI chr 2:137,964,068...138,016,364
Ensembl chr 2:137,964,020...138,016,364
JBrowse link
G MAOA monoamine oxidase A EXP SMPDB SMP:00191 NCBI chr  X:43,655,006...43,746,817
Ensembl chr  X:43,654,907...43,746,824
JBrowse link
G PRMT3 protein arginine methyltransferase 3 EXP SMPDB SMP:00191 NCBI chr11:20,387,563...20,510,861
Ensembl chr11:20,387,558...20,509,338
JBrowse link
G UROC1 urocanate hydratase 1 EXP SMPDB SMP:00191 NCBI chr 3:126,481,166...126,517,773
Ensembl chr 3:126,481,166...126,517,773
JBrowse link
holocarboxylase synthetase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTD biotinidase EXP SMPDB SMP:00564 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:00564 NCBI chr21:36,748,625...36,990,255
Ensembl chr21:36,748,626...36,990,236
Ensembl chr21:36,748,626...36,990,236
JBrowse link
G SPCS1 signal peptidase complex subunit 1 EXP SMPDB SMP:00564 NCBI chr 3:52,706,106...52,711,148
Ensembl chr 3:52,704,955...52,711,148
JBrowse link
homocarnosinosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase EXP SMPDB SMP:00385 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:00385 NCBI chr 1:18,871,430...18,902,580
Ensembl chr 1:18,871,430...18,902,724
JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 EXP SMPDB SMP:00385 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:00385 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:00385 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:00385 NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,522,016...23,557,731
Ensembl chr16:23,522,016...23,557,731
Ensembl chr16:23,522,016...23,557,731
JBrowse link
G GAD1 glutamate decarboxylase 1 EXP SMPDB SMP:00385 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:00385 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:00385 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:00385 NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,769...69,387,254
Ensembl chr 2:69,319,769...69,387,254
JBrowse link
G GLS2 glutaminase 2 EXP SMPDB SMP:00385 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:00385 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:00385 NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,381,704...182,392,206
Ensembl chr 1:182,381,704...182,392,206
JBrowse link
G GMPS guanine monophosphate synthase EXP SMPDB SMP:00385 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 NCBI chr 3:49,095,932...49,104,758
Ensembl chr 3:49,095,932...49,105,130
JBrowse link
homocystinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase EXP SMPDB SMP:00177 NCBI chr20:34,235,012...34,311,976
Ensembl chr20:34,280,268...34,311,802
JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 EXP SMPDB SMP:00177 NCBI chr 6:110,814,617...110,895,713
Ensembl chr 6:110,874,770...110,898,879
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase EXP SMPDB SMP:00177 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:00177 SMP:00515 NCBI chr21:43,053,190...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CHDH choline dehydrogenase EXP SMPDB SMP:00177 NCBI chr 3:53,812,335...53,846,464
Ensembl chr 3:53,812,335...53,846,419
JBrowse link
G CTH cystathionine gamma-lyase EXP SMPDB SMP:00177 SMP:00515 NCBI chr 1:70,411,268...70,441,949
Ensembl chr 1:70,411,218...70,439,851
JBrowse link
G DNMT1 DNA methyltransferase 1 EXP SMPDB SMP:00177 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,345...10,231,286
Ensembl chr19:10,133,345...10,231,286
JBrowse link
G IL4I1 interleukin 4 induced 1 EXP SMPDB SMP:00177 NCBI chr19:49,889,654...49,929,504
Ensembl chr19:49,889,654...49,929,539
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 EXP SMPDB SMP:00177 NCBI chr12:57,488,068...57,516,655
Ensembl chr12:57,475,445...57,517,569
JBrowse link
G MAT2A methionine adenosyltransferase 2A EXP SMPDB SMP:00177 NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281
JBrowse link
G MAT2B methionine adenosyltransferase 2B EXP SMPDB SMP:00177 NCBI chr 5:163,503,064...163,519,354
Ensembl chr 5:163,503,114...163,519,354
JBrowse link
G MSRB2 methionine sulfoxide reductase B2 EXP SMPDB SMP:00177 NCBI chr10:23,095,564...23,122,013
Ensembl chr10:23,095,579...23,122,013
JBrowse link
G MSRB3 methionine sulfoxide reductase B3 EXP SMPDB SMP:00177 NCBI chr12:65,278,593...65,466,907
Ensembl chr12:65,278,643...65,491,430
JBrowse link
G MTAP methylthioadenosine phosphorylase EXP SMPDB SMP:00177 NCBI chr 9:21,802,636...21,867,081
Ensembl chr 9:21,802,636...21,937,651
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase EXP SMPDB SMP:00177 NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639
JBrowse link
G MTHFR methylenetetrahydrofolate reductase EXP SMPDB SMP:00177 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase EXP SMPDB SMP:00177 NCBI chr 1:236,794,304...236,903,981
Ensembl chr 1:236,795,292...236,921,278
Ensembl chr 1:236,795,292...236,921,278
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 EXP SMPDB SMP:00177 NCBI chr17:18,327,873...18,363,560
Ensembl chr17:18,327,860...18,363,563
JBrowse link
G SRM spermidine synthase EXP SMPDB SMP:00177 NCBI chr 1:11,054,589...11,060,053
Ensembl chr 1:11,054,584...11,060,020
JBrowse link
hyperargininemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 EXP SMPDB SMP:00357 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:00357 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:00357 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:00357 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:00357 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:00357 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:00357 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:00357 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:00357 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:00357 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:00357 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:00357 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:00357 NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460
JBrowse link
hyperlysinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AADAT aminoadipate aminotransferase EXP SMPDB SMP:00527 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:00527 NCBI chr 7:122,073,544...122,144,269
Ensembl chr 7:122,073,549...122,144,255
Ensembl chr 7:122,073,549...122,144,255
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00527 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:00527 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:00527 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:00527 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:00527 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:00527 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:00527 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:00527 NCBI chr 4:107,989,839...108,035,171
Ensembl chr 4:107,989,714...108,035,175
Ensembl chr 4:107,989,714...108,035,175
JBrowse link
G PIPOX pipecolic acid and sarcosine oxidase EXP SMPDB SMP:00527 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:00527 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:00527 NCBI chr 8:17,494,349...17,570,566
Ensembl chr 8:17,497,088...17,570,573
JBrowse link
hypermethioninemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase EXP SMPDB SMP:00341 NCBI chr20:34,235,012...34,311,976
Ensembl chr20:34,280,268...34,311,802
JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 EXP SMPDB SMP:00341 NCBI chr 6:110,814,617...110,895,713
Ensembl chr 6:110,874,770...110,898,879
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase EXP SMPDB SMP:00341 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:00341 NCBI chr21:43,053,190...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CHDH choline dehydrogenase EXP SMPDB SMP:00341 NCBI chr 3:53,812,335...53,846,464
Ensembl chr 3:53,812,335...53,846,419
JBrowse link
G CTH cystathionine gamma-lyase EXP SMPDB SMP:00341 NCBI chr 1:70,411,268...70,441,949
Ensembl chr 1:70,411,218...70,439,851
JBrowse link
G DNMT1 DNA methyltransferase 1 EXP SMPDB SMP:00341 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,345...10,231,286
Ensembl chr19:10,133,345...10,231,286
JBrowse link
G IL4I1 interleukin 4 induced 1 EXP SMPDB SMP:00341 NCBI chr19:49,889,654...49,929,504
Ensembl chr19:49,889,654...49,929,539
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 EXP SMPDB SMP:00341 NCBI chr12:57,488,068...57,516,655
Ensembl chr12:57,475,445...57,517,569
JBrowse link
G MAT2A methionine adenosyltransferase 2A EXP SMPDB SMP:00341 NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281
JBrowse link
G MAT2B methionine adenosyltransferase 2B EXP SMPDB SMP:00341 NCBI chr 5:163,503,064...163,519,354
Ensembl chr 5:163,503,114...163,519,354
JBrowse link
G MSRB2 methionine sulfoxide reductase B2 EXP SMPDB SMP:00341 NCBI chr10:23,095,564...23,122,013
Ensembl chr10:23,095,579...23,122,013
JBrowse link
G MSRB3 methionine sulfoxide reductase B3 EXP SMPDB SMP:00341 NCBI chr12:65,278,593...65,466,907
Ensembl chr12:65,278,643...65,491,430
JBrowse link
G MTAP methylthioadenosine phosphorylase EXP SMPDB SMP:00341 NCBI chr 9:21,802,636...21,867,081
Ensembl chr 9:21,802,636...21,937,651
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase EXP SMPDB SMP:00341 NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639
JBrowse link
G MTHFR methylenetetrahydrofolate reductase EXP SMPDB SMP:00341 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase EXP SMPDB SMP:00341 NCBI chr 1:236,794,304...236,903,981
Ensembl chr 1:236,795,292...236,921,278
Ensembl chr 1:236,795,292...236,921,278
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 EXP SMPDB SMP:00341 NCBI chr17:18,327,873...18,363,560
Ensembl chr17:18,327,860...18,363,563
JBrowse link
G SRM spermidine synthase EXP SMPDB SMP:00341 NCBI chr 1:11,054,589...11,060,053
Ensembl chr 1:11,054,584...11,060,020
JBrowse link
hyperprolinemia type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 EXP SMPDB SMP:00361 NCBI chr 1:18,871,430...18,902,580
Ensembl chr 1:18,871,430...18,902,724
JBrowse link
G ARG1 arginase 1 EXP SMPDB SMP:00361 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:00361 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:00361 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:00361 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:00361 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:00361 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:00361 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:00361 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:00361 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:00361 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:00361 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:00361 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:00361 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:00361 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:00361 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:00361 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:00361 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:00361 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:00361 NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460
JBrowse link
hyperprolinemia type II pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 EXP SMPDB SMP:00360 NCBI chr 1:18,871,430...18,902,580
Ensembl chr 1:18,871,430...18,902,724
JBrowse link
G ARG1 arginase 1 EXP SMPDB SMP:00360 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:00360 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:00360 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:00360 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:00360 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:00360 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:00360 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:00360 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:00360 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:00360 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:00360 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:00360 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:00360 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:00360 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:00360 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:00360 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:00360 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:00360 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:00360 NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460
JBrowse link
isobutyryl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase EXP SMPDB SMP:00523 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:00523 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:00523 NCBI chr11:134,253,538...134,265,858
Ensembl chr11:134,253,495...134,265,855
Ensembl chr11:134,253,495...134,265,855
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP SMPDB SMP:00523 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,347...75,787,575
Ensembl chr 1:75,724,347...75,787,575
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00523 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:00523 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
Ensembl chr10:123,008,979...123,058,290
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00523 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:00523 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:00523 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:00523 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:00523 NCBI chr 9:91,213,823...91,361,945
Ensembl chr 9:91,213,815...91,361,913
Ensembl chr 9:91,213,815...91,361,913
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 EXP SMPDB SMP:00523 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:00523 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:00523 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:00523 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:00523 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:00523 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:00523 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:00523 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:00523 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:00523 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905
Ensembl chr 1:119,748,002...119,768,905
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 EXP SMPDB SMP:00523 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370
Ensembl chr  X:53,431,258...53,434,370
JBrowse link
G IVD isovaleryl-CoA dehydrogenase EXP SMPDB SMP:00523 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:00523 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:00523 NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,587,288...71,658,706
JBrowse link
G MCEE methylmalonyl-CoA epimerase EXP SMPDB SMP:00523 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:00523 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:00523 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:00523 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:00523 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896
JBrowse link
isovaleric acidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase EXP SMPDB SMP:00238 SMP:00524 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:00238 SMP:00524 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:00238 SMP:00524 NCBI chr11:134,253,538...134,265,858
Ensembl chr11:134,253,495...134,265,855
Ensembl chr11:134,253,495...134,265,855
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP SMPDB SMP:00238 SMP:00524 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,347...75,787,575
Ensembl chr 1:75,724,347...75,787,575
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00238 SMP:00524 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:00238 SMP:00524 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
Ensembl chr10:123,008,979...123,058,290
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00238 SMP:00524 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:00238 SMP:00524 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:00238 SMP:00524 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:00238 SMP:00524 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:00238 SMP:00524 NCBI chr 9:91,213,823...91,361,945
Ensembl chr 9:91,213,815...91,361,913
Ensembl chr 9:91,213,815...91,361,913
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 EXP SMPDB SMP:00238 SMP:00524 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:00238 SMP:00524 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:00238 SMP:00524 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:00238 SMP:00524 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:00238 SMP:00524 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:00238 SMP:00524 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:00238 SMP:00524 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:00238 SMP:00524 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:00238 SMP:00524 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:00238 SMP:00524 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905
Ensembl chr 1:119,748,002...119,768,905
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 EXP SMPDB SMP:00238 SMP:00524 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370
Ensembl chr  X:53,431,258...53,434,370
JBrowse link
G IVD isovaleryl-CoA dehydrogenase EXP SMPDB SMP:00238 SMP:00524 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:00238 SMP:00524 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:00238 SMP:00524 NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,587,288...71,658,706
JBrowse link
G MCEE methylmalonyl-CoA epimerase EXP SMPDB SMP:00238 SMP:00524 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:00238 SMP:00524 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:00238 SMP:00524 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:00238 SMP:00524 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:00238 SMP:00524 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896
JBrowse link
lysinuric protein intolerance pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP1 aquaporin 1 (Colton blood group) EXP SMPDB SMP:00197 SMP:00585 NCBI chr 7:30,911,853...30,925,516
Ensembl chr 7:30,911,853...30,925,517
Ensembl chr 7:30,911,853...30,925,517
JBrowse link
G AQP2 aquaporin 2 EXP SMPDB SMP:00197 SMP:00585 NCBI chr12:49,950,737...49,958,878
Ensembl 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:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 NCBI chr 1:160,151,603...160,186,980
Ensembl chr 1:160,151,586...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:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 NCBI chr18:45,167,963...45,683,688
Ensembl chr18:45,212,995...45,683,688
Ensembl chr18:45,212,995...45,683,688
JBrowse link
G SLC1A1 solute carrier family 1 member 1 EXP SMPDB SMP:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 NCBI chr11:62,976,597...62,984,967
Ensembl chr11:62,936,385...62,984,967
Ensembl chr11:62,936,385...62,984,967
JBrowse link
G SLC38A4 solute carrier family 38 member 4 EXP SMPDB SMP:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 NCBI chr11:62,856,109...62,888,860
Ensembl chr11:62,856,102...62,888,875
Ensembl chr11:62,856,102...62,888,875
JBrowse link
G SLC6A20 solute carrier family 6 member 20 EXP SMPDB SMP:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 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:00197 SMP:00585 NCBI chr19:32,830,511...32,870,957
Ensembl chr19:32,830,509...32,869,767
JBrowse link
maple syrup urine disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase EXP SMPDB SMP:00199 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:00199 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:00199 NCBI chr11:134,253,538...134,265,858
Ensembl chr11:134,253,495...134,265,855
Ensembl chr11:134,253,495...134,265,855
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP SMPDB SMP:00199 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,347...75,787,575
Ensembl chr 1:75,724,347...75,787,575
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00199 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:00199 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
Ensembl chr10:123,008,979...123,058,290
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00199 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:00199 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:00199 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:00199 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:00199 NCBI chr 9:91,213,823...91,361,945
Ensembl chr 9:91,213,815...91,361,913
Ensembl chr 9:91,213,815...91,361,913
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 EXP SMPDB SMP:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905
Ensembl chr 1:119,748,002...119,768,905
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 EXP SMPDB SMP:00199 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370
Ensembl chr  X:53,431,258...53,434,370
JBrowse link
G IVD isovaleryl-CoA dehydrogenase EXP SMPDB SMP:00199 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:00199 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:00199 NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,587,288...71,658,706
JBrowse link
G MCEE methylmalonyl-CoA epimerase EXP SMPDB SMP:00199 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:00199 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:00199 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:00199 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:00199 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896
JBrowse link
mercaptolactate-cysteine disulfiduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARS1 cysteinyl-tRNA synthetase 1 EXP SMPDB SMP:00499 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
JBrowse link
G CDO1 cysteine dioxygenase type 1 EXP SMPDB SMP:00499 NCBI chr 5:115,804,733...115,816,659
Ensembl chr 5:115,804,733...115,816,659
JBrowse link
G CTH cystathionine gamma-lyase EXP SMPDB SMP:00499 NCBI chr 1:70,411,268...70,441,949
Ensembl chr 1:70,411,218...70,439,851
JBrowse link
G CTNS cystinosin, lysosomal cystine transporter EXP SMPDB SMP:00499 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,661,542
Ensembl chr17:3,636,459...3,661,542
Ensembl chr17:3,636,459...3,661,542
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit EXP SMPDB SMP:00499 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:00499 NCBI chr 1:93,885,199...93,910,370
Ensembl chr 1:93,885,199...93,909,456
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 EXP SMPDB SMP:00499 NCBI chr10:99,396,870...99,430,624
Ensembl chr10:99,396,870...99,430,624
JBrowse link
G LDHAL6A lactate dehydrogenase A like 6A EXP SMPDB SMP:00499 NCBI chr11:18,455,856...18,479,601
Ensembl chr11:18,455,824...18,479,601
JBrowse link
G MPST mercaptopyruvate sulfurtransferase EXP SMPDB SMP:00499 NCBI chr22:37,019,742...37,029,815
Ensembl chr22:37,019,635...37,029,822
Ensembl chr22:37,019,635...37,029,822
JBrowse link
methylenetetrahydrofolate reductase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase EXP SMPDB SMP:00340 NCBI chr20:34,235,012...34,311,976
Ensembl chr20:34,280,268...34,311,802
JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 EXP SMPDB SMP:00340 NCBI chr 6:110,814,617...110,895,713
Ensembl chr 6:110,874,770...110,898,879
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase EXP SMPDB SMP:00340 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:00340 NCBI chr21:43,053,190...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CHDH choline dehydrogenase EXP SMPDB SMP:00340 NCBI chr 3:53,812,335...53,846,464
Ensembl chr 3:53,812,335...53,846,419
JBrowse link
G CTH cystathionine gamma-lyase EXP SMPDB SMP:00340 NCBI chr 1:70,411,268...70,441,949
Ensembl chr 1:70,411,218...70,439,851
JBrowse link
G DNMT1 DNA methyltransferase 1 EXP SMPDB SMP:00340 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,345...10,231,286
Ensembl chr19:10,133,345...10,231,286
JBrowse link
G IL4I1 interleukin 4 induced 1 EXP SMPDB SMP:00340 NCBI chr19:49,889,654...49,929,504
Ensembl chr19:49,889,654...49,929,539
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 EXP SMPDB SMP:00340 NCBI chr12:57,488,068...57,516,655
Ensembl chr12:57,475,445...57,517,569
JBrowse link
G MAT2A methionine adenosyltransferase 2A EXP SMPDB SMP:00340 NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281
JBrowse link
G MAT2B methionine adenosyltransferase 2B EXP SMPDB SMP:00340 NCBI chr 5:163,503,064...163,519,354
Ensembl chr 5:163,503,114...163,519,354
JBrowse link
G MSRB2 methionine sulfoxide reductase B2 EXP SMPDB SMP:00340 NCBI chr10:23,095,564...23,122,013
Ensembl chr10:23,095,579...23,122,013
JBrowse link
G MSRB3 methionine sulfoxide reductase B3 EXP SMPDB SMP:00340 NCBI chr12:65,278,593...65,466,907
Ensembl chr12:65,278,643...65,491,430
JBrowse link
G MTAP methylthioadenosine phosphorylase EXP SMPDB SMP:00340 NCBI chr 9:21,802,636...21,867,081
Ensembl chr 9:21,802,636...21,937,651
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase EXP SMPDB SMP:00340 NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639
JBrowse link
G MTHFR methylenetetrahydrofolate reductase EXP SMPDB SMP:00340 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase EXP SMPDB SMP:00340 NCBI chr 1:236,794,304...236,903,981
Ensembl chr 1:236,795,292...236,921,278
Ensembl chr 1:236,795,292...236,921,278
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 EXP SMPDB SMP:00340 NCBI chr17:18,327,873...18,363,560
Ensembl chr17:18,327,860...18,363,563
JBrowse link
G SRM spermidine synthase EXP SMPDB SMP:00340 NCBI chr 1:11,054,589...11,060,053
Ensembl chr 1:11,054,584...11,060,020
JBrowse link
methylmalonate semialdehyde dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase EXP SMPDB SMP:00384 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:00384 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:00384 NCBI chr11:134,253,538...134,265,858
Ensembl chr11:134,253,495...134,265,855
Ensembl chr11:134,253,495...134,265,855
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP SMPDB SMP:00384 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,347...75,787,575
Ensembl chr 1:75,724,347...75,787,575
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00384 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:00384 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
Ensembl chr10:123,008,979...123,058,290
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00384 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:00384 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:00384 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:00384 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:00384 NCBI chr 9:91,213,823...91,361,945
Ensembl chr 9:91,213,815...91,361,913
Ensembl chr 9:91,213,815...91,361,913
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 EXP SMPDB SMP:00384 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:00384 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:00384 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:00384 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:00384 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:00384 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:00384 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:00384 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:00384 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:00384 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905
Ensembl chr 1:119,748,002...119,768,905
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 EXP SMPDB SMP:00384 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370
Ensembl chr  X:53,431,258...53,434,370
JBrowse link
G IVD isovaleryl-CoA dehydrogenase EXP SMPDB SMP:00384 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:00384 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:00384 NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,587,288...71,658,706
JBrowse link
G MCEE methylmalonyl-CoA epimerase EXP SMPDB SMP:00384 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:00384 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:00384 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:00384 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:00384 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896
JBrowse link
methylmalonic acidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase EXP SMPDB SMP:00200 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:00200 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:00200 NCBI chr11:134,253,538...134,265,858
Ensembl chr11:134,253,495...134,265,855
Ensembl chr11:134,253,495...134,265,855
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP SMPDB SMP:00200 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,347...75,787,575
Ensembl chr 1:75,724,347...75,787,575
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00200 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:00200 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
Ensembl chr10:123,008,979...123,058,290
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00200 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:00200 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:00200 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:00200 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:00200 NCBI chr 9:91,213,823...91,361,945
Ensembl chr 9:91,213,815...91,361,913
Ensembl chr 9:91,213,815...91,361,913
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 EXP SMPDB SMP:00200 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:00200 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:00200 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:00200 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:00200 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:00200 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:00200 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:00200 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:00200 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:00200 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905
Ensembl chr 1:119,748,002...119,768,905
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 EXP SMPDB SMP:00200 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370
Ensembl chr  X:53,431,258...53,434,370
JBrowse link
G IVD isovaleryl-CoA dehydrogenase EXP SMPDB SMP:00200 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:00200 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:00200 NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,587,288...71,658,706
JBrowse link
G MCEE methylmalonyl-CoA epimerase EXP SMPDB SMP:00200 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:00200 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:00200 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:00200 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:00200 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896
JBrowse link
methylmalonic aciduria, cobalamin-related pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase EXP SMPDB SMP:00201 NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
JBrowse link
G ACACA acetyl-CoA carboxylase alpha EXP SMPDB SMP:00201 NCBI chr17:37,084,992...37,406,836
Ensembl chr17:37,084,992...37,406,836
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP SMPDB SMP:00201 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,347...75,787,575
Ensembl chr 1:75,724,347...75,787,575
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00201 NCBI chr11:108,116,705...108,148,822
Ensembl chr11:108,116,695...108,147,603
JBrowse link
G ACSS1 acyl-CoA synthetase short chain family member 1 EXP SMPDB SMP:00201 NCBI chr20:25,006,232...25,058,143
Ensembl chr20:25,006,230...25,058,980
JBrowse link
G ACSS3 acyl-CoA synthetase short chain family member 3 EXP SMPDB SMP:00201 NCBI chr12:81,078,037...81,261,210
Ensembl chr12:80,936,414...81,261,210
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 EXP SMPDB SMP:00201 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha EXP SMPDB SMP:00201 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:00201 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:00201 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:00201 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:00201 NCBI chr10:133,362,480...133,373,396
Ensembl chr10:133,362,485...133,373,354
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase EXP SMPDB SMP:00201 NCBI chr 2:190,203,920...190,319,826
Ensembl chr 2:190,189,735...190,344,193
JBrowse link
G LDHAL6B lactate dehydrogenase A like 6B EXP SMPDB SMP:00201 NCBI chr15:59,206,843...59,208,588
Ensembl chr15:59,206,843...59,208,588
JBrowse link
G MCEE methylmalonyl-CoA epimerase EXP SMPDB SMP:00201 NCBI chr 2:71,109,684...71,130,288
Ensembl chr 2:71,109,684...71,130,239
JBrowse link
G MLYCD malonyl-CoA decarboxylase EXP SMPDB SMP:00201 NCBI chr16:83,899,115...83,927,031
Ensembl chr16:83,899,115...83,951,445
JBrowse link
G MMUT methylmalonyl-CoA mutase EXP SMPDB SMP:00201 NCBI chr 6:49,430,360...49,463,298
Ensembl chr 6:49,430,360...49,463,253
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha EXP SMPDB SMP:00201 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:00201 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896
JBrowse link
nonketotic hyperglycinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate and serine--pyruvate aminotransferase EXP SMPDB SMP:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
JBrowse link
G AMT aminomethyltransferase EXP SMPDB SMP:00223 SMP:00485 NCBI chr 3:49,416,778...49,422,473
Ensembl chr 3:49,416,778...49,422,685
Ensembl chr 3:49,416,778...49,422,685
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase EXP SMPDB SMP:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033
Ensembl chr 7:30,580,533...30,634,033
JBrowse link
G GATM glycine amidinotransferase EXP SMPDB SMP:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 NCBI chr 9:6,532,467...6,645,729
Ensembl chr 9:6,532,464...6,645,783
Ensembl chr 9:6,532,464...6,645,783
JBrowse link
G GLYCTK glycerate kinase EXP SMPDB SMP:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 NCBI chr 1:119,711,934...119,744,218
Ensembl chr 1:119,648,411...119,744,218
Ensembl chr 1:119,648,411...119,744,218
JBrowse link
G PSAT1 phosphoserine aminotransferase 1 EXP SMPDB SMP:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 NCBI chr17:2,303,371...2,325,267
Ensembl chr17:2,303,383...2,325,260
JBrowse link
ornithine carbamoyltransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 EXP SMPDB SMP:00205 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:00205 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:00205 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:00205 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:00205 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:00205 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:00205 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:00205 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:00205 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:00205 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:00205 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:00205 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:00205 NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460
JBrowse link
ornithine translocase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 EXP SMPDB SMP:00506 NCBI chr 1:18,871,430...18,902,580
Ensembl chr 1:18,871,430...18,902,724
JBrowse link
G ARG1 arginase 1