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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 ISO SMPDB SMP:00719 NCBI chr 4:162,283,569...162,313,720
Ensembl chr 4:174,353,766...174,383,471
JBrowse link
G AASS aminoadipate-semialdehyde synthase ISO SMPDB SMP:00719 NCBI chr 7:114,084,792...114,155,558
Ensembl chr 7:126,769,655...126,840,346
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00719 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00719 NCBI chr 5:121,946,527...122,000,273 JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00719 NCBI chr10:12,073,324...12,130,589
Ensembl chr10:12,054,060...12,108,387
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00719 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00719 NCBI chr14:55,433,358...55,455,876
Ensembl chr14:74,278,128...74,300,133
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00719 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr19:12,452,779...12,461,757
Ensembl chr19:13,195,241...13,204,223
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr 4:100,495,205...100,540,589
Ensembl chr 4:111,067,336...111,113,868
JBrowse link
G PIPOX pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00719 NCBI chr17:27,717,083...27,820,776
Ensembl chr17:28,225,831...28,240,210
JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO SMPDB SMP:00719 NCBI chr 5:136,664,485...136,666,344 JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO SMPDB SMP:00719 NCBI chr 8:16,723,227...16,788,745
Ensembl chr 8:13,671,571...13,735,645
JBrowse link
3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00138 NCBI chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00138 NCBI chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00138 NCBI chr11:129,106,646...129,118,773
Ensembl chr11:132,964,071...132,976,092
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00138 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00138 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00138 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00138 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00138 NCBI chr12:109,343,020...109,385,060 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00138 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00138 NCBI chr2B:87,839,376...87,924,823
Ensembl chr2B:205,996,604...206,083,897
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00138 NCBI chr 9:62,269,809...62,420,577 JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00138 NCBI chr12:61,364,154...61,500,827
Ensembl chr12:63,978,116...64,107,463
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00138 NCBI chr19:38,391,618...38,418,826 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00138 NCBI chr 6:78,005,287...78,246,287
Ensembl chr 6:81,276,836...81,516,787
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00138 NCBI chr 1:102,852,585...102,907,146
Ensembl chr 1:101,567,551...101,621,850
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00138 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00138 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00138 NCBI chr 7:28,166,127...28,299,845
Ensembl chr 7:27,763,021...27,896,598
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00138 NCBI chr2B:77,510,938...77,652,911 JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00138 NCBI chr 1:22,993,489...23,017,307
Ensembl chr 1:23,977,723...24,001,150
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00138 NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00138 NCBI chr  X:45,645,849...45,649,039
Ensembl chr  X:53,754,164...53,757,643
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00138 NCBI chr15:19,342,283...19,372,465
Ensembl chr15:37,596,688...37,609,902
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00138 NCBI chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00138 NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00138 NCBI chr2A:71,154,176...71,176,679
Ensembl chr2A:72,656,860...72,677,401
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00138 NCBI chr 6:49,007,500...49,040,470
Ensembl chr 6:50,269,644...50,302,593
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00138 NCBI chr 5:68,528,765...68,668,305
Ensembl chr 5:73,563,758...73,710,316
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00138 NCBI chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00138 NCBI chr 3:133,304,472...133,382,664
Ensembl chr 3:140,768,319...140,849,270
JBrowse link
3-hydroxyisobutyric aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00521 SMP:00522 NCBI chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00521 SMP:00522 NCBI chr11:129,106,646...129,118,773
Ensembl chr11:132,964,071...132,976,092
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00521 SMP:00522 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00521 SMP:00522 NCBI chr12:109,343,020...109,385,060 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr2B:87,839,376...87,924,823
Ensembl chr2B:205,996,604...206,083,897
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 9:62,269,809...62,420,577 JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr12:61,364,154...61,500,827
Ensembl chr12:63,978,116...64,107,463
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00521 SMP:00522 NCBI chr19:38,391,618...38,418,826 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00521 SMP:00522 NCBI chr 6:78,005,287...78,246,287
Ensembl chr 6:81,276,836...81,516,787
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:102,852,585...102,907,146
Ensembl chr 1:101,567,551...101,621,850
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00521 SMP:00522 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 7:28,166,127...28,299,845
Ensembl chr 7:27,763,021...27,896,598
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00521 SMP:00522 NCBI chr2B:77,510,938...77,652,911 JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:22,993,489...23,017,307
Ensembl chr 1:23,977,723...24,001,150
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00521 SMP:00522 NCBI chr  X:45,645,849...45,649,039
Ensembl chr  X:53,754,164...53,757,643
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00521 SMP:00522 NCBI chr15:19,342,283...19,372,465
Ensembl chr15:37,596,688...37,609,902
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00521 SMP:00522 NCBI chr2A:71,154,176...71,176,679
Ensembl chr2A:72,656,860...72,677,401
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00521 SMP:00522 NCBI chr 6:49,007,500...49,040,470
Ensembl chr 6:50,269,644...50,302,593
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00521 SMP:00522 NCBI chr 5:68,528,765...68,668,305
Ensembl chr 5:73,563,758...73,710,316
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00521 SMP:00522 NCBI chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00521 SMP:00522 NCBI chr 3:133,304,472...133,382,664
Ensembl chr 3:140,768,319...140,849,270
JBrowse link
3-methylcrotonyl CoA carboxylase 1 deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00237 NCBI chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00237 NCBI chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00237 NCBI chr11:129,106,646...129,118,773
Ensembl chr11:132,964,071...132,976,092
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00237 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00237 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00237 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00237 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00237 NCBI chr12:109,343,020...109,385,060 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00237 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00237 NCBI chr2B:87,839,376...87,924,823
Ensembl chr2B:205,996,604...206,083,897
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00237 NCBI chr 9:62,269,809...62,420,577 JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00237 NCBI chr12:61,364,154...61,500,827
Ensembl chr12:63,978,116...64,107,463
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00237 NCBI chr19:38,391,618...38,418,826 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00237 NCBI chr 6:78,005,287...78,246,287
Ensembl chr 6:81,276,836...81,516,787
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00237 NCBI chr 1:102,852,585...102,907,146
Ensembl chr 1:101,567,551...101,621,850
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00237 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00237 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00237 NCBI chr 7:28,166,127...28,299,845
Ensembl chr 7:27,763,021...27,896,598
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00237 NCBI chr2B:77,510,938...77,652,911 JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00237 NCBI chr 1:22,993,489...23,017,307
Ensembl chr 1:23,977,723...24,001,150
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00237 NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00237 NCBI chr  X:45,645,849...45,649,039
Ensembl chr  X:53,754,164...53,757,643
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00237 NCBI chr15:19,342,283...19,372,465
Ensembl chr15:37,596,688...37,609,902
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00237 NCBI chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00237 NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00237 NCBI chr2A:71,154,176...71,176,679
Ensembl chr2A:72,656,860...72,677,401
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00237 NCBI chr 6:49,007,500...49,040,470
Ensembl chr 6:50,269,644...50,302,593
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00237 NCBI chr 5:68,528,765...68,668,305
Ensembl chr 5:73,563,758...73,710,316
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00237 NCBI chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00237 NCBI chr 3:133,304,472...133,382,664
Ensembl chr 3:140,768,319...140,849,270
JBrowse link
AGAT deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:17,829,723...17,861,008
Ensembl chr 1:18,878,421...18,909,615
JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 7:59,971,529...59,988,722
Ensembl chr 7:73,142,842...73,157,472
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036
JBrowse link
G CKB creatine kinase B ISO SMPDB SMP:00362 SMP:00507 NCBI chr14:84,145,931...84,149,093 JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:106,453,807...106,475,409
Ensembl chr12:109,849,995...109,870,065
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:195,537,319...195,618,257
Ensembl chr 1:200,575,259...200,656,197
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00362 SMP:00507 Ensembl chr19:1,371,312...1,375,461 JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr15:24,309,045...24,326,673
Ensembl chr15:42,639,597...42,657,209
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr10:83,498,338...83,540,730 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr10:96,012,345...96,046,266
Ensembl chr10:99,506,205...99,540,178
JBrowse link
G LOC100987322 proline dehydrogenase 1, mitochondrial ISO SMPDB SMP:00362 SMP:00507 NCBI chr22:1,654,019...1,678,389 JBrowse link
G NOS1 nitric oxide synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005
JBrowse link
G OAT ornithine aminotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr10:120,955,805...120,977,484
Ensembl chr10:125,224,032...125,245,504
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00362 SMP:00507 NCBI chr  X:30,796,828...30,868,144
Ensembl chr  X:38,505,232...38,575,819
JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00362 SMP:00507 NCBI chr11:69,333,199...69,385,012
Ensembl chr11:72,647,004...72,691,294
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:201,381,270...201,385,703 JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00362 SMP:00507 NCBI chr 6:85,391,061...85,466,888
Ensembl chr 6:88,665,543...88,741,371
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00362 SMP:00507 NCBI chr13:21,996,153...22,066,574
Ensembl chr13:40,589,689...40,608,994
JBrowse link
alkaptonuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00169 NCBI chr17:31,384,740...31,395,719
Ensembl chr17:36,531,720...36,542,504
JBrowse link
G AOC1 amine oxidase copper containing 1 ISO SMPDB SMP:00169 NCBI chr 7:142,434,732...142,443,050
Ensembl chr 7:154,563,523...154,595,248
JBrowse link
G COMT catechol-O-methyltransferase ISO SMPDB SMP:00169 NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387
JBrowse link
G DBH dopamine beta-hydroxylase ISO SMPDB SMP:00169 NCBI chr 9:104,761,504...104,784,445
Ensembl chr 9:133,371,821...133,393,697
JBrowse link
G DCT dopachrome tautomerase ISO SMPDB SMP:00169 NCBI chr13:75,590,366...75,730,956
Ensembl chr13:94,773,794...94,816,083
JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00169 NCBI chr 7:51,101,169...51,206,031
Ensembl chr 7:51,345,228...51,449,710
JBrowse link
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00169 NCBI chr15:59,121,657...59,155,229
Ensembl chr15:78,048,571...78,115,098
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00169 NCBI chr10:96,012,345...96,046,266
Ensembl chr10:99,506,205...99,540,178
JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00169 NCBI chr14:57,874,184...57,901,397
Ensembl chr14:77,075,814...77,086,530
JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00169 NCBI chr2A:42,857,216...42,882,738
Ensembl chr2A:43,704,468...43,729,887
JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00169 NCBI chr 3:117,735,772...117,790,096
Ensembl chr 3:124,646,431...124,700,733
JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00169 NCBI chr12:119,442,893...119,462,171
Ensembl chr12:122,813,141...122,831,701
JBrowse link
G LOC100971436 alcohol dehydrogenase 1A ISO SMPDB SMP:00169 NCBI chr 4:91,697,663...91,712,314
Ensembl chr 4:102,359,419...102,374,101
JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00169 NCBI chr  X:36,106,680...36,197,907
Ensembl chr  X:43,931,044...44,022,199
JBrowse link
G MIF macrophage migration inhibitory factor ISO SMPDB SMP:00169 NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009
JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00169 NCBI chr17:17,618,399...17,620,691
Ensembl chr17:17,835,277...17,837,180
JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00169 NCBI chr16:53,434,028...53,443,624
Ensembl chr16:71,404,399...71,413,886
JBrowse link
G TYR tyrosinase ISO SMPDB SMP:00169 NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138
JBrowse link
argininosuccinic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00003 NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00003 NCBI chr 7:59,971,529...59,988,722
Ensembl chr 7:73,142,842...73,157,472
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00003 NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00003 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00003 NCBI chr12:32,426,264...32,443,690
Ensembl chr12:32,678,814...32,696,694
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00003 NCBI chr10:83,498,338...83,540,730 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00003 NCBI chr16:38,995,770...39,022,750
Ensembl chr16:58,120,781...58,147,378
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00003 NCBI chr  X:30,796,828...30,868,144
Ensembl chr  X:38,505,232...38,575,819
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00003 NCBI chr2A:65,051,025...65,086,917
Ensembl chr2A:66,176,925...66,209,615
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00003 NCBI chr19:43,765,001...43,778,981
Ensembl chr19:52,294,655...52,307,529
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00003 NCBI chr2B:59,071,123...59,297,327
Ensembl chr2B:176,532,940...176,641,894
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00003 NCBI chr13:21,996,153...22,066,574
Ensembl chr13:40,589,689...40,608,994
JBrowse link
aromatic L-amino acid decarboxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DBH dopamine beta-hydroxylase ISO SMPDB SMP:00170 NCBI chr 9:104,761,504...104,784,445
Ensembl chr 9:133,371,821...133,393,697
JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00170 NCBI chr 7:51,101,169...51,206,031
Ensembl chr 7:51,345,228...51,449,710
JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00170 NCBI chr17:17,618,399...17,620,691
Ensembl chr17:17,835,277...17,837,180
JBrowse link
G TH tyrosine hydroxylase ISO SMPDB SMP:00170 NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433
JBrowse link
biotinidase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTD biotinidase ISO SMPDB SMP:00174 NCBI chr 3:15,526,339...15,575,475
Ensembl chr 3:15,863,489...15,907,497
JBrowse link
G HLCS holocarboxylase synthetase ISO SMPDB SMP:00174 NCBI chr21:23,112,477...23,352,121
Ensembl chr21:36,470,872...36,655,688
JBrowse link
G SPCS1 signal peptidase complex subunit 1 ISO SMPDB SMP:00174 NCBI chr 3:52,646,427...52,648,786
Ensembl chr 3:53,873,921...53,876,229
JBrowse link
carbamoyl phosphate synthetase I deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00002 NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chr 7:59,971,529...59,988,722
Ensembl chr 7:73,142,842...73,157,472
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chr12:32,426,264...32,443,690
Ensembl chr12:32,678,814...32,696,694
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chr10:83,498,338...83,540,730 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chr16:38,995,770...39,022,750
Ensembl chr16:58,120,781...58,147,378
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00002 NCBI chr  X:30,796,828...30,868,144
Ensembl chr  X:38,505,232...38,575,819
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chr2A:65,051,025...65,086,917
Ensembl chr2A:66,176,925...66,209,615
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chr19:43,765,001...43,778,981
Ensembl chr19:52,294,655...52,307,529
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chr2B:59,071,123...59,297,327
Ensembl chr2B:176,532,940...176,641,894
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chr13:21,996,153...22,066,574
Ensembl chr13:40,589,689...40,608,994
JBrowse link
carnosinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00493 NCBI chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00493 NCBI chr12:109,343,020...109,385,060 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00493 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734
JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO SMPDB SMP:00493 NCBI chr18:67,920,453...67,982,843
Ensembl chr18:71,162,331...71,188,879
Ensembl chr18:71,162,331...71,188,879
JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO SMPDB SMP:00493 NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100
JBrowse link
G DPYS dihydropyrimidinase ISO SMPDB SMP:00493 NCBI chr 8:101,008,090...101,096,234
Ensembl chr 8:103,160,922...103,248,303
JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00493 NCBI chr2B:58,100,623...58,145,045
Ensembl chr2B:175,558,538...175,602,944
JBrowse link
G UPB1 beta-ureidopropionase 1 ISO SMPDB SMP:00493 NCBI chr22:5,300,686...5,332,735
Ensembl chr22:22,166,370...22,197,360
JBrowse link
citrullinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00001 NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00001 NCBI chr 7:59,971,529...59,988,722
Ensembl chr 7:73,142,842...73,157,472
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00001 NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00001 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00001 NCBI chr12:32,426,264...32,443,690
Ensembl chr12:32,678,814...32,696,694
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00001 NCBI chr10:83,498,338...83,540,730 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00001 NCBI chr16:38,995,770...39,022,750
Ensembl chr16:58,120,781...58,147,378
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00001 NCBI chr  X:30,796,828...30,868,144
Ensembl chr  X:38,505,232...38,575,819
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00001 NCBI chr2A:65,051,025...65,086,917
Ensembl chr2A:66,176,925...66,209,615
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00001 NCBI chr19:43,765,001...43,778,981
Ensembl chr19:52,294,655...52,307,529
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00001 NCBI chr2B:59,071,123...59,297,327
Ensembl chr2B:176,532,940...176,641,894
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00001 NCBI chr13:21,996,153...22,066,574
Ensembl chr13:40,589,689...40,608,994
JBrowse link
cystathioninuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBS cystathionine beta-synthase ISO SMPDB SMP:00514 NCBI chr21:29,361,519...29,385,610 JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00514 NCBI chr 1:69,646,608...69,674,301
Ensembl chr 1:71,629,333...71,677,666
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 ISO SMPDB SMP:00242 SMP:00484 NCBI chr2B:128,125,289...128,137,091
Ensembl chr2B:246,928,784...246,939,837
JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 3:52,140,423...52,156,656
Ensembl chr 3:53,369,522...53,385,361
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00242 SMP:00484 NCBI chr12:109,343,020...109,385,060 JBrowse link
G AMT aminomethyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 3:49,344,590...49,350,383
Ensembl chr 3:50,589,193...50,594,968
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 5:36,181,183...36,201,833
Ensembl chr 5:36,670,854...36,728,993
JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00242 SMP:00484 NCBI chr21:29,361,519...29,385,610 JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 1:69,646,608...69,674,301
Ensembl chr 1:71,629,333...71,677,666
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G DMGDH dimethylglycine dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 5:36,241,341...36,313,995
Ensembl chr 5:36,732,005...36,805,883
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00242 SMP:00484 Ensembl chr19:1,371,312...1,375,461 JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 7:31,208,351...31,247,841
Ensembl chr 7:31,329,456...31,368,582
JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr15:24,309,045...24,326,673
Ensembl chr15:42,639,597...42,657,209
JBrowse link
G GCAT glycine C-acetyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr22:18,722,886...18,731,963
Ensembl chr22:36,554,067...36,563,429
JBrowse link
G GLDC glycine decarboxylase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 9:6,347,381...6,456,042
Ensembl chr 9:6,527,242...6,635,779
JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 3:52,230,128...52,237,561
Ensembl chr 3:53,458,563...53,466,702
JBrowse link
G GNMT glycine N-methyltransferase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 6:42,550,631...42,554,385
Ensembl chr 6:43,846,560...43,849,679
JBrowse link
G LOC100993185 putative phosphoserine phosphatase-like protein ISO SMPDB SMP:00242 SMP:00484 NCBI chr 7:56,351,434...56,376,714 JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00242 SMP:00484 NCBI chr  X:36,106,680...36,197,907
Ensembl chr  X:43,931,044...44,022,199
JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 1:82,803,155...82,835,465
Ensembl chr 1:117,800,843...117,833,462
JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 9:46,517,253...46,550,018
Ensembl chr 9:77,147,493...77,180,439
JBrowse link
G SARDH sarcosine dehydrogenase ISO SMPDB SMP:00242 SMP:00484 NCBI chr 9:104,786,774...104,864,480
Ensembl chr 9:133,398,806...133,473,642
JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr 1:111,590,850...111,615,068
Ensembl chr 1:110,755,054...110,779,704
JBrowse link
G SDS serine dehydratase ISO SMPDB SMP:00242 SMP:00484 NCBI chr12:110,995,164...111,006,668
Ensembl chr12:114,377,650...114,388,839
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00242 SMP:00484 NCBI chr17:32,870,949...32,905,690
Ensembl chr17:37,849,206...37,884,220
JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00242 SMP:00484 NCBI chr12:31,692,451...31,697,727
Ensembl chr12:31,944,785...31,950,138
JBrowse link
G SRR serine racemase ISO SMPDB SMP:00242 SMP:00484 NCBI chr17:2,294,440...2,316,244
Ensembl chr17:2,182,839...2,200,704
JBrowse link
GABA aminotransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00351 NCBI chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00351 NCBI chr12:109,343,020...109,385,060 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00351 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734
JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO SMPDB SMP:00351 NCBI chr18:67,920,453...67,982,843
Ensembl chr18:71,162,331...71,188,879
Ensembl chr18:71,162,331...71,188,879
JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO SMPDB SMP:00351 NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100
JBrowse link
G DPYS dihydropyrimidinase ISO SMPDB SMP:00351 NCBI chr 8:101,008,090...101,096,234
Ensembl chr 8:103,160,922...103,248,303
JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00351 NCBI chr2B:58,100,623...58,145,045
Ensembl chr2B:175,558,538...175,602,944
JBrowse link
G UPB1 beta-ureidopropionase 1 ISO SMPDB SMP:00351 NCBI chr22:5,300,686...5,332,735
Ensembl chr22:22,166,370...22,197,360
JBrowse link
glutaric aciduria type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AADAT aminoadipate aminotransferase ISO SMPDB SMP:00186 NCBI chr 4:162,283,569...162,313,720
Ensembl chr 4:174,353,766...174,383,471
JBrowse link
G AASS aminoadipate-semialdehyde synthase ISO SMPDB SMP:00186 NCBI chr 7:114,084,792...114,155,558
Ensembl chr 7:126,769,655...126,840,346
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00185 NCBI chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00185 NCBI chr2B:97,445,421...97,483,514
Ensembl chr2B:215,847,775...215,885,524
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00185 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00185 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00185 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00185 NCBI chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00185 NCBI chr 4:176,920,811...176,991,495
Ensembl chr 4:189,145,403...189,198,646
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00186 NCBI chr 5:121,946,527...122,000,273 JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00185 NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00185 NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994
JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00186 NCBI chr10:12,073,324...12,130,589
Ensembl chr10:12,054,060...12,108,387
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00186 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00186 NCBI chr14:55,433,358...55,455,876
Ensembl chr14:74,278,128...74,300,133
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00185 SMP:00186 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00185 SMP:00186 NCBI chr19:12,452,779...12,461,757
Ensembl chr19:13,195,241...13,204,223
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00186 NCBI chr 4:100,495,205...100,540,589
Ensembl chr 4:111,067,336...111,113,868
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00185 NCBI chr2A:26,185,938...26,240,229
Ensembl chr2A:26,279,995...26,334,068
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00185 NCBI chr2A:26,240,365...26,285,982
Ensembl chr2A:26,334,043...26,379,059
JBrowse link
G PIPOX pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00186 NCBI chr17:27,717,083...27,820,776
Ensembl chr17:28,225,831...28,240,210
JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO SMPDB SMP:00186 NCBI chr 5:136,664,485...136,666,344 JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO SMPDB SMP:00186 NCBI chr 8:16,723,227...16,788,745
Ensembl chr 8:13,671,571...13,735,645
JBrowse link
glutathione synthase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANPEP alanyl aminopeptidase, membrane ISO SMPDB SMP:00143 SMP:00337 NCBI chr15:68,479,349...68,509,238
Ensembl chr15:87,681,826...87,703,713
JBrowse link
G CASP7 caspase 7 ISO SMPDB SMP:00143 SMP:00337 NCBI chr10:110,273,318...110,324,800
Ensembl chr10:113,707,780...113,758,626
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00143 SMP:00337 NCBI chr 6:53,052,145...53,102,794
Ensembl chr 6:54,687,315...54,734,994
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00143 SMP:00337 NCBI chr 1:96,548,850...96,573,273
Ensembl chr 1:95,278,665...95,297,893
JBrowse link
G GGCT gamma-glutamylcyclotransferase ISO SMPDB SMP:00143 SMP:00337 NCBI chr 7:31,125,964...31,134,330 JBrowse link
G GGT6 gamma-glutamyltransferase 6 ISO SMPDB SMP:00143 SMP:00337 NCBI chr17:4,611,707...4,615,336
Ensembl chr17:4,604,393...4,608,037
JBrowse link
G GPX1 glutathione peroxidase 1 ISO SMPDB SMP:00143 SMP:00337 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
JBrowse link
G GSR glutathione-disulfide reductase ISO SMPDB SMP:00143 SMP:00337 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
JBrowse link
G GSS glutathione synthetase ISO SMPDB SMP:00143 SMP:00337 NCBI chr20:31,256,734...31,284,356
Ensembl chr20:32,381,745...32,409,297
JBrowse link
G GSTO2 glutathione S-transferase omega 2 ISO SMPDB SMP:00143 SMP:00337 NCBI chr10:100,868,109...100,901,013
Ensembl chr10:104,326,175...104,357,604
JBrowse link
glutathionuria disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANPEP alanyl aminopeptidase, membrane ISO SMPDB SMP:00501 NCBI chr15:68,479,349...68,509,238
Ensembl chr15:87,681,826...87,703,713
JBrowse link
G CASP7 caspase 7 ISO SMPDB SMP:00501 NCBI chr10:110,273,318...110,324,800
Ensembl chr10:113,707,780...113,758,626
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00501 NCBI chr 6:53,052,145...53,102,794
Ensembl chr 6:54,687,315...54,734,994
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00501 NCBI chr 1:96,548,850...96,573,273
Ensembl chr 1:95,278,665...95,297,893
JBrowse link
G GGCT gamma-glutamylcyclotransferase ISO SMPDB SMP:00501 NCBI chr 7:31,125,964...31,134,330 JBrowse link
G GGT6 gamma-glutamyltransferase 6 ISO SMPDB SMP:00501 NCBI chr17:4,611,707...4,615,336
Ensembl chr17:4,604,393...4,608,037
JBrowse link
G GPX1 glutathione peroxidase 1 ISO SMPDB SMP:00501 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
JBrowse link
G GSR glutathione-disulfide reductase ISO SMPDB SMP:00501 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
JBrowse link
G GSS glutathione synthetase ISO SMPDB SMP:00501 NCBI chr20:31,256,734...31,284,356
Ensembl chr20:32,381,745...32,409,297
JBrowse link
G GSTO2 glutathione S-transferase omega 2 ISO SMPDB SMP:00501 NCBI chr10:100,868,109...100,901,013
Ensembl chr10:104,326,175...104,357,604
JBrowse link
glycine N-methyltransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase ISO SMPDB SMP:00222 NCBI chr20:30,603,701...30,626,835
Ensembl chr20:31,738,007...31,760,803
JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00222 NCBI chr 6:108,678,741...108,699,695
Ensembl chr 6:112,761,072...112,782,074
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00222 NCBI chr 5:36,181,183...36,201,833
Ensembl chr 5:36,670,854...36,728,993
JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00222 NCBI chr21:29,361,519...29,385,610 JBrowse link
G CHDH choline dehydrogenase ISO SMPDB SMP:00222 NCBI chr 3:53,751,179...53,784,437
Ensembl chr 3:54,976,780...54,982,991
JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00222 NCBI chr 1:69,646,608...69,674,301
Ensembl chr 1:71,629,333...71,677,666
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO SMPDB SMP:00222 NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00222 NCBI chr19:46,902,656...46,942,213
Ensembl chr19:55,819,080...55,858,389
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00222 NCBI chr12:31,410,231...31,438,015
Ensembl chr12:31,668,708...31,693,839
JBrowse link
G MAT2A methionine adenosyltransferase 2A ISO SMPDB SMP:00222 NCBI chr2A:85,589,301...85,595,437
Ensembl chr2A:87,141,857...87,148,322
JBrowse link
G MAT2B methionine adenosyltransferase 2B ISO SMPDB SMP:00222 NCBI chr 5:158,879,425...158,895,690
Ensembl chr 5:165,656,086...165,672,176
JBrowse link
G MSRB2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00222 NCBI chr10:23,259,791...23,285,261 JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00222 NCBI chr12:23,449,225...23,638,287
Ensembl chr12:23,953,759...24,142,578
JBrowse link
G MTAP methylthioadenosine phosphorylase ISO SMPDB SMP:00222 NCBI chr 9:21,637,543...21,769,698
Ensembl chr 9:22,266,376...22,382,218
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00222 NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO SMPDB SMP:00222 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00222 NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00222 NCBI chr17:32,870,949...32,905,690
Ensembl chr17:37,849,206...37,884,220
JBrowse link
G SRM spermidine synthase ISO SMPDB SMP:00222 NCBI chr 1:9,817,765...9,823,244 JBrowse link
hawkinsinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00190 NCBI chr17:31,384,740...31,395,719
Ensembl chr17:36,531,720...36,542,504
JBrowse link
G AOC1 amine oxidase copper containing 1 ISO SMPDB SMP:00190 NCBI chr 7:142,434,732...142,443,050
Ensembl chr 7:154,563,523...154,595,248
JBrowse link
G COMT catechol-O-methyltransferase ISO SMPDB SMP:00190 NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387
JBrowse link
G DBH dopamine beta-hydroxylase ISO SMPDB SMP:00190 NCBI chr 9:104,761,504...104,784,445
Ensembl chr 9:133,371,821...133,393,697
JBrowse link
G DCT dopachrome tautomerase ISO SMPDB SMP:00190 NCBI chr13:75,590,366...75,730,956
Ensembl chr13:94,773,794...94,816,083
JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00190 NCBI chr 7:51,101,169...51,206,031
Ensembl chr 7:51,345,228...51,449,710
JBrowse link
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00190 NCBI chr15:59,121,657...59,155,229
Ensembl chr15:78,048,571...78,115,098
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00190 NCBI chr10:96,012,345...96,046,266
Ensembl chr10:99,506,205...99,540,178
JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00190 NCBI chr14:57,874,184...57,901,397
Ensembl chr14:77,075,814...77,086,530
JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00190 NCBI chr2A:42,857,216...42,882,738
Ensembl chr2A:43,704,468...43,729,887
JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00190 NCBI chr 3:117,735,772...117,790,096
Ensembl chr 3:124,646,431...124,700,733
JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00190 NCBI chr12:119,442,893...119,462,171
Ensembl chr12:122,813,141...122,831,701
JBrowse link
G LOC100971436 alcohol dehydrogenase 1A ISO SMPDB SMP:00190 NCBI chr 4:91,697,663...91,712,314
Ensembl chr 4:102,359,419...102,374,101
JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00190 NCBI chr  X:36,106,680...36,197,907
Ensembl chr  X:43,931,044...44,022,199
JBrowse link
G MIF macrophage migration inhibitory factor ISO SMPDB SMP:00190 NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009
JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00190 NCBI chr17:17,618,399...17,620,691
Ensembl chr17:17,835,277...17,837,180
JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00190 NCBI chr16:53,434,028...53,443,624
Ensembl chr16:71,404,399...71,413,886
JBrowse link
G TYR tyrosinase ISO SMPDB SMP:00190 NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138
JBrowse link
histidinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00191 NCBI chr12:109,343,020...109,385,060 JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00191 NCBI chr17:31,384,740...31,395,719
Ensembl chr17:36,531,720...36,542,504
JBrowse link
G AMDHD1 amidohydrolase domain containing 1 ISO SMPDB SMP:00191 NCBI chr12:93,534,881...93,557,762
Ensembl chr12:96,923,879...96,946,507
JBrowse link
G AOC1 amine oxidase copper containing 1 ISO SMPDB SMP:00191 NCBI chr 7:142,434,732...142,443,050
Ensembl chr 7:154,563,523...154,595,248
JBrowse link
G CARNMT1 carnosine N-methyltransferase 1 ISO SMPDB SMP:00191 NCBI chr 9:49,806,082...49,854,079
Ensembl chr 9:73,837,056...73,884,964
JBrowse link
G CARNS1 carnosine synthase 1 ISO SMPDB SMP:00191 NCBI chr11:62,774,027...62,784,066
Ensembl chr11:66,085,594...66,097,970
JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO SMPDB SMP:00191 NCBI chr18:67,920,453...67,982,843
Ensembl chr18:71,162,331...71,188,879
Ensembl chr18:71,162,331...71,188,879
JBrowse link
G CNDP2 carnosine dipeptidase 2 ISO SMPDB SMP:00191 NCBI chr18:67,882,189...67,907,094
Ensembl chr18:71,162,331...71,188,879
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO SMPDB SMP:00191 NCBI chr21:32,481,042...32,501,932
Ensembl chr21:45,734,825...45,753,400
JBrowse link
G HAL histidine ammonia-lyase ISO SMPDB SMP:00191 NCBI chr12:93,561,401...93,585,215
Ensembl chr12:96,950,020...96,973,662
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO SMPDB SMP:00191 NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371
JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00191 NCBI chr 5:136,056,060...136,065,588
Ensembl chr 5:142,172,081...142,179,950
JBrowse link
G HDC histidine decarboxylase ISO SMPDB SMP:00191 NCBI chr15:29,188,296...29,212,327
Ensembl chr15:47,510,629...47,534,577
JBrowse link
G HNMT histamine N-methyltransferase ISO SMPDB SMP:00191 NCBI chr2B:21,840,342...21,892,744
Ensembl chr2B:142,036,321...142,088,315
JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00191 NCBI chr  X:36,106,680...36,197,907
Ensembl chr  X:43,931,044...44,022,199
JBrowse link
G PRMT3 protein arginine methyltransferase 3 ISO SMPDB SMP:00191 NCBI chr11:20,412,419...20,538,295
Ensembl chr11:20,324,196...20,449,681
JBrowse link
G UROC1 urocanate hydratase 1 ISO SMPDB SMP:00191 NCBI chr 3:123,530,644...123,569,337
Ensembl chr 3:130,846,775...130,882,119
JBrowse link
holocarboxylase synthetase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTD biotinidase ISO SMPDB SMP:00564 NCBI chr 3:15,526,339...15,575,475
Ensembl chr 3:15,863,489...15,907,497
JBrowse link
G HLCS holocarboxylase synthetase ISO SMPDB SMP:00564 NCBI chr21:23,112,477...23,352,121
Ensembl chr21:36,470,872...36,655,688
JBrowse link
G SPCS1 signal peptidase complex subunit 1 ISO SMPDB SMP:00564 NCBI chr 3:52,646,427...52,648,786
Ensembl chr 3:53,873,921...53,876,229
JBrowse link
homocarnosinosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00385 NCBI chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00385 NCBI chr 1:17,829,723...17,861,008
Ensembl chr 1:18,878,421...18,909,615
JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 ISO SMPDB SMP:00385 NCBI chr 6:24,332,093...24,370,764
Ensembl chr 6:24,665,026...24,705,151
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00385 NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00385 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00385 NCBI chr16:14,552,664...14,588,022
Ensembl chr16:23,774,123...23,809,873
JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00385 NCBI chr2B:58,100,623...58,145,045
Ensembl chr2B:175,558,538...175,602,944
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00385 NCBI chr 6:53,052,145...53,102,794
Ensembl chr 6:54,687,315...54,734,994
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00385 NCBI chr 1:96,548,850...96,573,273
Ensembl chr 1:95,278,665...95,297,893
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00385 NCBI chr2A:69,363,229...69,430,182
Ensembl chr2A:70,488,763...70,551,141
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00385 NCBI chr12:32,426,264...32,443,690
Ensembl chr12:32,678,814...32,696,694
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00385 NCBI chr10:83,498,338...83,540,730 JBrowse link
G GLUL glutamate-ammonia ligase ISO SMPDB SMP:00385 NCBI chr 1:157,882,258...157,891,562
Ensembl chr 1:161,534,106...161,543,411
JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00385 NCBI chr 3:152,925,905...152,999,180
Ensembl chr 3:160,977,222...161,045,214
JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00385 NCBI chr14:33,371,603...33,388,098
Ensembl chr14:51,655,182...51,671,619
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00385 NCBI chr16:38,995,770...39,022,750
Ensembl chr16:58,120,781...58,147,378
JBrowse link
G GSR glutathione-disulfide reductase ISO SMPDB SMP:00385 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
JBrowse link
G GSS glutathione synthetase ISO SMPDB SMP:00385 NCBI chr20:31,256,734...31,284,356
Ensembl chr20:32,381,745...32,409,297
JBrowse link
G NADSYN1 NAD synthetase 1 ISO SMPDB SMP:00385 NCBI chr11:66,464,320...66,537,649
Ensembl chr11:69,735,871...69,788,953
JBrowse link
G NAGK N-acetylglucosamine kinase ISO SMPDB SMP:00385 NCBI chr2A:71,114,832...71,125,182
Ensembl chr2A:72,616,077...72,626,435
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00385 NCBI chr 4:67,491,407...67,533,822
Ensembl chr 4:74,059,966...74,102,002
JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00385 NCBI chr 3:49,020,310...49,029,443
Ensembl chr 3:50,100,216...50,125,112
JBrowse link
homocystinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase ISO SMPDB SMP:00177 NCBI chr20:30,603,701...30,626,835
Ensembl chr20:31,738,007...31,760,803
JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00177 NCBI chr 6:108,678,741...108,699,695
Ensembl chr 6:112,761,072...112,782,074
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00177 NCBI chr 5:36,181,183...36,201,833
Ensembl chr 5:36,670,854...36,728,993
JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00177 SMP:00515 NCBI chr21:29,361,519...29,385,610 JBrowse link
G CHDH choline dehydrogenase ISO SMPDB SMP:00177 NCBI chr 3:53,751,179...53,784,437
Ensembl chr 3:54,976,780...54,982,991
JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00177 SMP:00515 NCBI chr 1:69,646,608...69,674,301
Ensembl chr 1:71,629,333...71,677,666
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO SMPDB SMP:00177 NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00177 NCBI chr19:46,902,656...46,942,213
Ensembl chr19:55,819,080...55,858,389
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00177 NCBI chr12:31,410,231...31,438,015
Ensembl chr12:31,668,708...31,693,839
JBrowse link
G MAT2A methionine adenosyltransferase 2A ISO SMPDB SMP:00177 NCBI chr2A:85,589,301...85,595,437
Ensembl chr2A:87,141,857...87,148,322
JBrowse link
G MAT2B methionine adenosyltransferase 2B ISO SMPDB SMP:00177 NCBI chr 5:158,879,425...158,895,690
Ensembl chr 5:165,656,086...165,672,176
JBrowse link
G MSRB2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00177 NCBI chr10:23,259,791...23,285,261 JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00177 NCBI chr12:23,449,225...23,638,287
Ensembl chr12:23,953,759...24,142,578
JBrowse link
G MTAP methylthioadenosine phosphorylase ISO SMPDB SMP:00177 NCBI chr 9:21,637,543...21,769,698
Ensembl chr 9:22,266,376...22,382,218
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00177 NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO SMPDB SMP:00177 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00177 NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00177 NCBI chr17:32,870,949...32,905,690
Ensembl chr17:37,849,206...37,884,220
JBrowse link
G SRM spermidine synthase ISO SMPDB SMP:00177 NCBI chr 1:9,817,765...9,823,244 JBrowse link
hyperargininemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00357 NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00357 NCBI chr 7:59,971,529...59,988,722
Ensembl chr 7:73,142,842...73,157,472
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00357 NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00357 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00357 NCBI chr12:32,426,264...32,443,690
Ensembl chr12:32,678,814...32,696,694
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00357 NCBI chr10:83,498,338...83,540,730 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00357 NCBI chr16:38,995,770...39,022,750
Ensembl chr16:58,120,781...58,147,378
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00357 NCBI chr  X:30,796,828...30,868,144
Ensembl chr  X:38,505,232...38,575,819
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00357 NCBI chr2A:65,051,025...65,086,917
Ensembl chr2A:66,176,925...66,209,615
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00357 NCBI chr19:43,765,001...43,778,981
Ensembl chr19:52,294,655...52,307,529
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00357 NCBI chr2B:59,071,123...59,297,327
Ensembl chr2B:176,532,940...176,641,894
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00357 NCBI chr13:21,996,153...22,066,574
Ensembl chr13:40,589,689...40,608,994
JBrowse link
hyperlysinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AADAT aminoadipate aminotransferase ISO SMPDB SMP:00527 NCBI chr 4:162,283,569...162,313,720
Ensembl chr 4:174,353,766...174,383,471
JBrowse link
G AASS aminoadipate-semialdehyde synthase ISO SMPDB SMP:00527 NCBI chr 7:114,084,792...114,155,558
Ensembl chr 7:126,769,655...126,840,346
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00527 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00527 NCBI chr 5:121,946,527...122,000,273 JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00527 NCBI chr10:12,073,324...12,130,589
Ensembl chr10:12,054,060...12,108,387
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00527 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00527 NCBI chr14:55,433,358...55,455,876
Ensembl chr14:74,278,128...74,300,133
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00527 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chr19:12,452,779...12,461,757
Ensembl chr19:13,195,241...13,204,223
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chr 4:100,495,205...100,540,589
Ensembl chr 4:111,067,336...111,113,868
JBrowse link
G PIPOX pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00527 NCBI chr17:27,717,083...27,820,776
Ensembl chr17:28,225,831...28,240,210
JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO SMPDB SMP:00527 NCBI chr 5:136,664,485...136,666,344 JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO SMPDB SMP:00527 NCBI chr 8:16,723,227...16,788,745
Ensembl chr 8:13,671,571...13,735,645
JBrowse link
hypermethioninemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase ISO SMPDB SMP:00341 NCBI chr20:30,603,701...30,626,835
Ensembl chr20:31,738,007...31,760,803
JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00341 NCBI chr 6:108,678,741...108,699,695
Ensembl chr 6:112,761,072...112,782,074
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00341 NCBI chr 5:36,181,183...36,201,833
Ensembl chr 5:36,670,854...36,728,993
JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00341 NCBI chr21:29,361,519...29,385,610 JBrowse link
G CHDH choline dehydrogenase ISO SMPDB SMP:00341 NCBI chr 3:53,751,179...53,784,437
Ensembl chr 3:54,976,780...54,982,991
JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00341 NCBI chr 1:69,646,608...69,674,301
Ensembl chr 1:71,629,333...71,677,666
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO SMPDB SMP:00341 NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00341 NCBI chr19:46,902,656...46,942,213
Ensembl chr19:55,819,080...55,858,389
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00341 NCBI chr12:31,410,231...31,438,015
Ensembl chr12:31,668,708...31,693,839
JBrowse link
G MAT2A methionine adenosyltransferase 2A ISO SMPDB SMP:00341 NCBI chr2A:85,589,301...85,595,437
Ensembl chr2A:87,141,857...87,148,322
JBrowse link
G MAT2B methionine adenosyltransferase 2B ISO SMPDB SMP:00341 NCBI chr 5:158,879,425...158,895,690
Ensembl chr 5:165,656,086...165,672,176
JBrowse link
G MSRB2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00341 NCBI chr10:23,259,791...23,285,261 JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00341 NCBI chr12:23,449,225...23,638,287
Ensembl chr12:23,953,759...24,142,578
JBrowse link
G MTAP methylthioadenosine phosphorylase ISO SMPDB SMP:00341 NCBI chr 9:21,637,543...21,769,698
Ensembl chr 9:22,266,376...22,382,218
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00341 NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO SMPDB SMP:00341 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00341 NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00341 NCBI chr17:32,870,949...32,905,690
Ensembl chr17:37,849,206...37,884,220
JBrowse link
G SRM spermidine synthase ISO SMPDB SMP:00341 NCBI chr 1:9,817,765...9,823,244 JBrowse link
hyperprolinemia type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00361 NCBI chr 1:17,829,723...17,861,008
Ensembl chr 1:18,878,421...18,909,615
JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00361 NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00361 NCBI chr 7:59,971,529...59,988,722
Ensembl chr 7:73,142,842...73,157,472
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00361 NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036
JBrowse link
G CKB creatine kinase B ISO SMPDB SMP:00361 NCBI chr14:84,145,931...84,149,093 JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00361 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00361 NCBI chr12:106,453,807...106,475,409
Ensembl chr12:109,849,995...109,870,065
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00361 NCBI chr 1:195,537,319...195,618,257
Ensembl chr 1:200,575,259...200,656,197
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00361 Ensembl chr19:1,371,312...1,375,461 JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00361 NCBI chr15:24,309,045...24,326,673
Ensembl chr15:42,639,597...42,657,209
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00361 NCBI chr10:83,498,338...83,540,730 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00361 NCBI chr10:96,012,345...96,046,266
Ensembl chr10:99,506,205...99,540,178
JBrowse link
G LOC100987322 proline dehydrogenase 1, mitochondrial ISO SMPDB SMP:00361 NCBI chr22:1,654,019...1,678,389 JBrowse link
G NOS1 nitric oxide synthase 1 ISO SMPDB SMP:00361 NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005
JBrowse link
G OAT ornithine aminotransferase ISO SMPDB SMP:00361 NCBI chr10:120,955,805...120,977,484
Ensembl chr10:125,224,032...125,245,504
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00361 NCBI chr  X:30,796,828...30,868,144
Ensembl chr  X:38,505,232...38,575,819
JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00361 NCBI chr11:69,333,199...69,385,012
Ensembl chr11:72,647,004...72,691,294
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00361 NCBI chr 1:201,381,270...201,385,703 JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00361 NCBI chr 6:85,391,061...85,466,888
Ensembl chr 6:88,665,543...88,741,371
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00361 NCBI chr13:21,996,153...22,066,574
Ensembl chr13:40,589,689...40,608,994
JBrowse link
hyperprolinemia type II pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00360 NCBI chr 1:17,829,723...17,861,008
Ensembl chr 1:18,878,421...18,909,615
JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00360 NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00360 NCBI chr 7:59,971,529...59,988,722
Ensembl chr 7:73,142,842...73,157,472
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00360 NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036
JBrowse link
G CKB creatine kinase B ISO SMPDB SMP:00360 NCBI chr14:84,145,931...84,149,093 JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00360 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00360 NCBI chr12:106,453,807...106,475,409
Ensembl chr12:109,849,995...109,870,065
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00360 NCBI chr 1:195,537,319...195,618,257
Ensembl chr 1:200,575,259...200,656,197
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00360 Ensembl chr19:1,371,312...1,375,461 JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00360 NCBI chr15:24,309,045...24,326,673
Ensembl chr15:42,639,597...42,657,209
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00360 NCBI chr10:83,498,338...83,540,730 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00360 NCBI chr10:96,012,345...96,046,266
Ensembl chr10:99,506,205...99,540,178
JBrowse link
G LOC100987322 proline dehydrogenase 1, mitochondrial ISO SMPDB SMP:00360 NCBI chr22:1,654,019...1,678,389 JBrowse link
G NOS1 nitric oxide synthase 1 ISO SMPDB SMP:00360 NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005
JBrowse link
G OAT ornithine aminotransferase ISO SMPDB SMP:00360 NCBI chr10:120,955,805...120,977,484
Ensembl chr10:125,224,032...125,245,504
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00360 NCBI chr  X:30,796,828...30,868,144
Ensembl chr  X:38,505,232...38,575,819
JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00360 NCBI chr11:69,333,199...69,385,012
Ensembl chr11:72,647,004...72,691,294
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00360 NCBI chr 1:201,381,270...201,385,703 JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00360 NCBI chr 6:85,391,061...85,466,888
Ensembl chr 6:88,665,543...88,741,371
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00360 NCBI chr13:21,996,153...22,066,574
Ensembl chr13:40,589,689...40,608,994
JBrowse link
isobutyryl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00523 NCBI chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00523 NCBI chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00523 NCBI chr11:129,106,646...129,118,773
Ensembl chr11:132,964,071...132,976,092
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00523 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00523 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00523 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00523 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00523 NCBI chr12:109,343,020...109,385,060 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00523 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00523 NCBI chr2B:87,839,376...87,924,823
Ensembl chr2B:205,996,604...206,083,897
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00523 NCBI chr 9:62,269,809...62,420,577 JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00523 NCBI chr12:61,364,154...61,500,827
Ensembl chr12:63,978,116...64,107,463
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00523 NCBI chr19:38,391,618...38,418,826 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00523 NCBI chr 6:78,005,287...78,246,287
Ensembl chr 6:81,276,836...81,516,787
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00523 NCBI chr 1:102,852,585...102,907,146
Ensembl chr 1:101,567,551...101,621,850
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00523 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00523 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00523 NCBI chr 7:28,166,127...28,299,845
Ensembl chr 7:27,763,021...27,896,598
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00523 NCBI chr2B:77,510,938...77,652,911 JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00523 NCBI chr 1:22,993,489...23,017,307
Ensembl chr 1:23,977,723...24,001,150
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00523 NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00523 NCBI chr  X:45,645,849...45,649,039
Ensembl chr  X:53,754,164...53,757,643
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00523 NCBI chr15:19,342,283...19,372,465
Ensembl chr15:37,596,688...37,609,902
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00523 NCBI chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00523 NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00523 NCBI chr2A:71,154,176...71,176,679
Ensembl chr2A:72,656,860...72,677,401
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00523 NCBI chr 6:49,007,500...49,040,470
Ensembl chr 6:50,269,644...50,302,593
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00523 NCBI chr 5:68,528,765...68,668,305
Ensembl chr 5:73,563,758...73,710,316
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00523 NCBI chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00523 NCBI chr 3:133,304,472...133,382,664
Ensembl chr 3:140,768,319...140,849,270
JBrowse link
isovaleric acidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00238 SMP:00524 NCBI chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00238 SMP:00524 NCBI chr11:129,106,646...129,118,773
Ensembl chr11:132,964,071...132,976,092
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00238 SMP:00524 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00238 SMP:00524 NCBI chr12:109,343,020...109,385,060 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr2B:87,839,376...87,924,823
Ensembl chr2B:205,996,604...206,083,897
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 9:62,269,809...62,420,577 JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr12:61,364,154...61,500,827
Ensembl chr12:63,978,116...64,107,463
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00238 SMP:00524 NCBI chr19:38,391,618...38,418,826 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00238 SMP:00524 NCBI chr 6:78,005,287...78,246,287
Ensembl chr 6:81,276,836...81,516,787
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:102,852,585...102,907,146
Ensembl chr 1:101,567,551...101,621,850
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00238 SMP:00524 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 7:28,166,127...28,299,845
Ensembl chr 7:27,763,021...27,896,598
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00238 SMP:00524 NCBI chr2B:77,510,938...77,652,911 JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:22,993,489...23,017,307
Ensembl chr 1:23,977,723...24,001,150
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00238 SMP:00524 NCBI chr  X:45,645,849...45,649,039
Ensembl chr  X:53,754,164...53,757,643
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00238 SMP:00524 NCBI chr15:19,342,283...19,372,465
Ensembl chr15:37,596,688...37,609,902
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00238 SMP:00524 NCBI chr2A:71,154,176...71,176,679
Ensembl chr2A:72,656,860...72,677,401
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00238 SMP:00524 NCBI chr 6:49,007,500...49,040,470
Ensembl chr 6:50,269,644...50,302,593
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00238 SMP:00524 NCBI chr 5:68,528,765...68,668,305
Ensembl chr 5:73,563,758...73,710,316
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00238 SMP:00524 NCBI chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00238 SMP:00524 NCBI chr 3:133,304,472...133,382,664
Ensembl chr 3:140,768,319...140,849,270
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) ISO SMPDB SMP:00197 SMP:00585 NCBI chr 7:31,524,933...31,538,602
Ensembl chr 7:31,644,331...31,658,141
JBrowse link
G AQP2 aquaporin 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr12:38,796,300...38,804,559
Ensembl chr12:39,690,289...39,698,397
JBrowse link
G AQP3 aquaporin 3 (Gill blood group) ISO SMPDB SMP:00197 SMP:00585 NCBI chr 9:33,221,989...33,228,469
Ensembl chr 9:34,032,983...34,039,438
JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:86,162,401...86,193,883
Ensembl chr 1:121,212,488...121,243,099
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr19:38,854,243...38,882,034 JBrowse link
G ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:135,504,929...135,540,651
Ensembl chr 1:139,426,556...139,462,393
JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:144,592,667...144,621,052
Ensembl chr 1:148,314,793...148,342,050
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr17:7,681,831...7,688,710
Ensembl chr17:7,669,626...7,673,834
JBrowse link
G ATP1B3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 3:138,903,371...138,954,915
Ensembl chr 3:146,500,493...146,550,164
JBrowse link
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chr  X:109,633,770...109,654,662
Ensembl chr  X:119,820,695...119,841,598
JBrowse link
G CLCNKA chloride voltage-gated channel Ka ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:15,159,362...15,171,376
Ensembl chr 1:16,152,022...16,163,777
JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 4:140,418,624...140,785,180
Ensembl chr 4:152,108,508...152,430,298
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00197 SMP:00585 NCBI chr12:6,475,723...6,506,443 JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00197 SMP:00585 NCBI chr16:14,728,834...14,809,072
Ensembl chr16:23,555,388...23,634,873
JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO SMPDB SMP:00197 SMP:00585 NCBI chr 1:35,437...46,538
Ensembl chr 1:1,238,512...1,247,649
JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00197 SMP:00585 NCBI chr16:14,893,631...14,928,402
Ensembl chr16:23,435,793...23,469,969
JBrowse link
G SLC12A1 solute carrier family 12 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr15:27,155,331...27,252,995
Ensembl chr15:45,479,583...45,577,084
JBrowse link
G SLC12A3 solute carrier family 12 member 3 ISO SMPDB SMP:00197 SMP:00585 NCBI chr16:37,142,797...37,193,713
Ensembl chr16:56,276,049...56,324,528
JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr15:12,741,526...12,846,894
Ensembl chr15:31,576,756...31,680,061
JBrowse link
G SLC14A2 solute carrier family 14 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr18:38,766,994...38,966,124
Ensembl chr18:42,448,067...42,506,485
JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 9:4,323,124...4,420,193
Ensembl chr 9:4,511,491...4,608,337
JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 6:158,058,226...158,150,917
Ensembl chr 6:163,065,317...163,158,931
JBrowse link
G SLC22A6 solute carrier family 22 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr11:58,328,476...58,336,887
Ensembl chr11:61,680,016...61,688,223
JBrowse link
G SLC38A4 solute carrier family 38 member 4 ISO SMPDB SMP:00197 SMP:00585 NCBI chr12:41,906,527...41,967,859
Ensembl chr12:42,799,172...42,838,283
JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO SMPDB SMP:00197 SMP:00585 NCBI chr2A:44,371,328...44,419,611
Ensembl chr2A:45,307,885...45,355,386
JBrowse link
G SLC3A2 solute carrier family 3 member 2 ISO SMPDB SMP:00197 SMP:00585 NCBI chr11:58,212,395...58,241,686
Ensembl chr11:61,565,680...61,594,579
JBrowse link
G SLC6A20 solute carrier family 6 member 20 ISO SMPDB SMP:00197 SMP:00585 NCBI chr 3:45,663,830...45,703,576
Ensembl chr 3:46,770,067...46,811,158
JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO SMPDB SMP:00197 SMP:00585 NCBI chr16:68,512,407...68,552,763 JBrowse link
G SLC7A6 solute carrier family 7 member 6 ISO SMPDB SMP:00197 SMP:00585 NCBI chr16:48,641,256...48,675,347
Ensembl chr16:68,038,696...68,072,502
JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO SMPDB SMP:00197 SMP:00585 NCBI chr14:3,590,781...3,637,588
Ensembl chr14:21,690,145...21,738,057
JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO SMPDB SMP:00197 SMP:00585 NCBI chr14:3,945,123...4,003,574
Ensembl chr14:22,040,787...22,100,112
JBrowse link
G SLC7A9 solute carrier family 7 member 9 ISO SMPDB SMP:00197 SMP:00585 NCBI chr19:29,753,265...29,793,871
Ensembl chr19:38,499,106...38,538,750
JBrowse link
maple syrup urine disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00199 NCBI chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00199 NCBI chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00199 NCBI chr11:129,106,646...129,118,773
Ensembl chr11:132,964,071...132,976,092
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00199 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00199 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00199 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00199 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00199 NCBI chr12:109,343,020...109,385,060 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00199 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00199 NCBI chr2B:87,839,376...87,924,823
Ensembl chr2B:205,996,604...206,083,897
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00199 NCBI chr 9:62,269,809...62,420,577 JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00199 NCBI chr12:61,364,154...61,500,827
Ensembl chr12:63,978,116...64,107,463
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00199 NCBI chr19:38,391,618...38,418,826 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00199 NCBI chr 6:78,005,287...78,246,287
Ensembl chr 6:81,276,836...81,516,787
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00199 NCBI chr 1:102,852,585...102,907,146
Ensembl chr 1:101,567,551...101,621,850
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00199 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00199 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00199 NCBI chr 7:28,166,127...28,299,845
Ensembl chr 7:27,763,021...27,896,598
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00199 NCBI chr2B:77,510,938...77,652,911 JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00199 NCBI chr 1:22,993,489...23,017,307
Ensembl chr 1:23,977,723...24,001,150
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00199 NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00199 NCBI chr  X:45,645,849...45,649,039
Ensembl chr  X:53,754,164...53,757,643
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00199 NCBI chr15:19,342,283...19,372,465
Ensembl chr15:37,596,688...37,609,902
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00199 NCBI chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00199 NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00199 NCBI chr2A:71,154,176...71,176,679
Ensembl chr2A:72,656,860...72,677,401
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00199 NCBI chr 6:49,007,500...49,040,470
Ensembl chr 6:50,269,644...50,302,593
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00199 NCBI chr 5:68,528,765...68,668,305
Ensembl chr 5:73,563,758...73,710,316
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00199 NCBI chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00199 NCBI chr 3:133,304,472...133,382,664
Ensembl chr 3:140,768,319...140,849,270
JBrowse link
mercaptolactate-cysteine disulfiduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARS1 cysteinyl-tRNA synthetase 1 ISO SMPDB SMP:00499 NCBI chr11:3,026,787...3,083,170
Ensembl chr11:3,053,551...3,109,509
JBrowse link
G CDO1 cysteine dioxygenase type 1 ISO SMPDB SMP:00499 NCBI chr 5:111,159,041...111,170,965
Ensembl chr 5:116,955,295...116,967,506
JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00499 NCBI chr 1:69,646,608...69,674,301
Ensembl chr 1:71,629,333...71,677,666
JBrowse link
G CTNS cystinosin, lysosomal cystine transporter ISO SMPDB SMP:00499 NCBI chr17:3,686,903...3,711,857
Ensembl chr17:3,683,575...3,708,253
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00499 NCBI chr 6:53,052,145...53,102,794
Ensembl chr 6:54,687,315...54,734,994
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00499 NCBI chr 1:96,548,850...96,573,273
Ensembl chr 1:95,278,665...95,297,893
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00499 NCBI chr10:96,012,345...96,046,266
Ensembl chr10:99,506,205...99,540,178
JBrowse link
G LDHAL6A lactate dehydrogenase A like 6A ISO SMPDB SMP:00499 NCBI chr11:18,493,842...18,517,691
Ensembl chr11:18,176,824...18,200,673
JBrowse link
G MPST mercaptopyruvate sulfurtransferase ISO SMPDB SMP:00499 NCBI chr22:17,933,995...17,944,196
Ensembl chr22:35,770,209...35,780,250
JBrowse link
methylenetetrahydrofolate reductase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase ISO SMPDB SMP:00340 NCBI chr20:30,603,701...30,626,835
Ensembl chr20:31,738,007...31,760,803
JBrowse link
G AMD1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00340 NCBI chr 6:108,678,741...108,699,695
Ensembl chr 6:112,761,072...112,782,074
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00340 NCBI chr 5:36,181,183...36,201,833
Ensembl chr 5:36,670,854...36,728,993
JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00340 NCBI chr21:29,361,519...29,385,610 JBrowse link
G CHDH choline dehydrogenase ISO SMPDB SMP:00340 NCBI chr 3:53,751,179...53,784,437
Ensembl chr 3:54,976,780...54,982,991
JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00340 NCBI chr 1:69,646,608...69,674,301
Ensembl chr 1:71,629,333...71,677,666
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO SMPDB SMP:00340 NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00340 NCBI chr19:46,902,656...46,942,213
Ensembl chr19:55,819,080...55,858,389
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00340 NCBI chr12:31,410,231...31,438,015
Ensembl chr12:31,668,708...31,693,839
JBrowse link
G MAT2A methionine adenosyltransferase 2A ISO SMPDB SMP:00340 NCBI chr2A:85,589,301...85,595,437
Ensembl chr2A:87,141,857...87,148,322
JBrowse link
G MAT2B methionine adenosyltransferase 2B ISO SMPDB SMP:00340 NCBI chr 5:158,879,425...158,895,690
Ensembl chr 5:165,656,086...165,672,176
JBrowse link
G MSRB2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00340 NCBI chr10:23,259,791...23,285,261 JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00340 NCBI chr12:23,449,225...23,638,287
Ensembl chr12:23,953,759...24,142,578
JBrowse link
G MTAP methylthioadenosine phosphorylase ISO SMPDB SMP:00340 NCBI chr 9:21,637,543...21,769,698
Ensembl chr 9:22,266,376...22,382,218
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00340 NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO SMPDB SMP:00340 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00340 NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00340 NCBI chr17:32,870,949...32,905,690
Ensembl chr17:37,849,206...37,884,220
JBrowse link
G SRM spermidine synthase ISO SMPDB SMP:00340 NCBI chr 1:9,817,765...9,823,244 JBrowse link
methylmalonate semialdehyde dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00384 NCBI chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00384 NCBI chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00384 NCBI chr11:129,106,646...129,118,773
Ensembl chr11:132,964,071...132,976,092
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00384 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00384 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00384 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00384 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00384 NCBI chr12:109,343,020...109,385,060 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00384 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00384 NCBI chr2B:87,839,376...87,924,823
Ensembl chr2B:205,996,604...206,083,897
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00384 NCBI chr 9:62,269,809...62,420,577 JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00384 NCBI chr12:61,364,154...61,500,827
Ensembl chr12:63,978,116...64,107,463
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00384 NCBI chr19:38,391,618...38,418,826 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00384 NCBI chr 6:78,005,287...78,246,287
Ensembl chr 6:81,276,836...81,516,787
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00384 NCBI chr 1:102,852,585...102,907,146
Ensembl chr 1:101,567,551...101,621,850
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00384 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00384 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00384 NCBI chr 7:28,166,127...28,299,845
Ensembl chr 7:27,763,021...27,896,598
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00384 NCBI chr2B:77,510,938...77,652,911 JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00384 NCBI chr 1:22,993,489...23,017,307
Ensembl chr 1:23,977,723...24,001,150
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00384 NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00384 NCBI chr  X:45,645,849...45,649,039
Ensembl chr  X:53,754,164...53,757,643
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00384 NCBI chr15:19,342,283...19,372,465
Ensembl chr15:37,596,688...37,609,902
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00384 NCBI chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00384 NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00384 NCBI chr2A:71,154,176...71,176,679
Ensembl chr2A:72,656,860...72,677,401
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00384 NCBI chr 6:49,007,500...49,040,470
Ensembl chr 6:50,269,644...50,302,593
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00384 NCBI chr 5:68,528,765...68,668,305
Ensembl chr 5:73,563,758...73,710,316
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00384 NCBI chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00384 NCBI chr 3:133,304,472...133,382,664
Ensembl chr 3:140,768,319...140,849,270
JBrowse link
methylmalonic acidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00200 NCBI chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00200 NCBI chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00200 NCBI chr11:129,106,646...129,118,773
Ensembl chr11:132,964,071...132,976,092
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00200 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00200 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00200 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00200 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00200 NCBI chr12:109,343,020...109,385,060 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00200 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00200 NCBI chr2B:87,839,376...87,924,823
Ensembl chr2B:205,996,604...206,083,897
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00200 NCBI chr 9:62,269,809...62,420,577 JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00200 NCBI chr12:61,364,154...61,500,827
Ensembl chr12:63,978,116...64,107,463
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00200 NCBI chr19:38,391,618...38,418,826 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00200 NCBI chr 6:78,005,287...78,246,287
Ensembl chr 6:81,276,836...81,516,787
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00200 NCBI chr 1:102,852,585...102,907,146
Ensembl chr 1:101,567,551...101,621,850
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00200 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00200 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00200 NCBI chr 7:28,166,127...28,299,845
Ensembl chr 7:27,763,021...27,896,598
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00200 NCBI chr2B:77,510,938...77,652,911 JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00200 NCBI chr 1:22,993,489...23,017,307
Ensembl chr 1:23,977,723...24,001,150
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00200 NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00200 NCBI chr  X:45,645,849...45,649,039
Ensembl chr  X:53,754,164...53,757,643
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00200 NCBI chr15:19,342,283...19,372,465
Ensembl chr15:37,596,688...37,609,902
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00200 NCBI chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00200 NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00200 NCBI chr2A:71,154,176...71,176,679
Ensembl chr2A:72,656,860...72,677,401
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00200 NCBI chr 6:49,007,500...49,040,470
Ensembl chr 6:50,269,644...50,302,593
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00200 NCBI chr 5:68,528,765...68,668,305
Ensembl chr 5:73,563,758...73,710,316
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00200 NCBI chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00200 NCBI chr 3:133,304,472...133,382,664
Ensembl chr 3:140,768,319...140,849,270
JBrowse link
methylmalonic aciduria, cobalamin-related pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00201 NCBI chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ACACA acetyl-CoA carboxylase alpha ISO SMPDB SMP:00201 NCBI chr17:19,670,114...19,998,903
Ensembl chr17:19,969,205...20,297,651
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00201 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00201 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ACSS1 acyl-CoA synthetase short chain family member 1 ISO SMPDB SMP:00201 NCBI chr20:24,946,629...25,001,311
Ensembl chr20:25,293,511...25,349,017
JBrowse link
G ACSS3 acyl-CoA synthetase short chain family member 3 ISO SMPDB SMP:00201 NCBI chr12:78,586,987...78,771,478
Ensembl chr12:81,698,875...81,878,325
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00201 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00201 NCBI chr19:38,391,618...38,418,826 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00201 NCBI chr 6:78,005,287...78,246,287
Ensembl chr 6:81,276,836...81,516,787
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00201 NCBI chr 1:102,852,585...102,907,146
Ensembl chr 1:101,567,551...101,621,850
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00201 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00201 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00201 NCBI chr2B:77,510,938...77,652,911 JBrowse link
G LDHAL6B lactate dehydrogenase A like 6B ISO SMPDB SMP:00201 NCBI chr15:38,176,451...38,179,189
Ensembl chr15:56,484,343...56,485,488
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00201 NCBI chr2A:71,154,176...71,176,679
Ensembl chr2A:72,656,860...72,677,401
JBrowse link
G MLYCD malonyl-CoA decarboxylase ISO SMPDB SMP:00201 NCBI chr16:64,520,860...64,537,955
Ensembl chr16:83,912,793...83,929,162
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00201 NCBI chr 6:49,007,500...49,040,470
Ensembl chr 6:50,269,644...50,302,593
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00201 NCBI chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00201 NCBI chr 3:133,304,472...133,382,664
Ensembl chr 3:140,768,319...140,849,270
JBrowse link
nonketotic hyperglycinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate and serine--pyruvate aminotransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr2B:128,125,289...128,137,091
Ensembl chr2B:246,928,784...246,939,837
JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 3:52,140,423...52,156,656
Ensembl chr 3:53,369,522...53,385,361
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00223 SMP:00485 NCBI chr12:109,343,020...109,385,060 JBrowse link
G AMT aminomethyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 3:49,344,590...49,350,383
Ensembl chr 3:50,589,193...50,594,968
JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 5:36,181,183...36,201,833
Ensembl chr 5:36,670,854...36,728,993
JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00223 SMP:00485 NCBI chr21:29,361,519...29,385,610 JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 1:69,646,608...69,674,301
Ensembl chr 1:71,629,333...71,677,666
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G DMGDH dimethylglycine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 5:36,241,341...36,313,995
Ensembl chr 5:36,732,005...36,805,883
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 Ensembl chr19:1,371,312...1,375,461 JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 7:31,208,351...31,247,841
Ensembl chr 7:31,329,456...31,368,582
JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr15:24,309,045...24,326,673
Ensembl chr15:42,639,597...42,657,209
JBrowse link
G GCAT glycine C-acetyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr22:18,722,886...18,731,963
Ensembl chr22:36,554,067...36,563,429
JBrowse link
G GLDC glycine decarboxylase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 9:6,347,381...6,456,042
Ensembl chr 9:6,527,242...6,635,779
JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 3:52,230,128...52,237,561
Ensembl chr 3:53,458,563...53,466,702
JBrowse link
G GNMT glycine N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 6:42,550,631...42,554,385
Ensembl chr 6:43,846,560...43,849,679
JBrowse link
G LOC100993185 putative phosphoserine phosphatase-like protein ISO SMPDB SMP:00223 SMP:00485 NCBI chr 7:56,351,434...56,376,714 JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00223 SMP:00485 NCBI chr  X:36,106,680...36,197,907
Ensembl chr  X:43,931,044...44,022,199
JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 1:82,803,155...82,835,465
Ensembl chr 1:117,800,843...117,833,462
JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 9:46,517,253...46,550,018
Ensembl chr 9:77,147,493...77,180,439
JBrowse link
G SARDH sarcosine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 9:104,786,774...104,864,480
Ensembl chr 9:133,398,806...133,473,642
JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 1:111,590,850...111,615,068
Ensembl chr 1:110,755,054...110,779,704
JBrowse link
G SDS serine dehydratase ISO SMPDB SMP:00223 SMP:00485 NCBI chr12:110,995,164...111,006,668
Ensembl chr12:114,377,650...114,388,839
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr17:32,870,949...32,905,690
Ensembl chr17:37,849,206...37,884,220
JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00223 SMP:00485 NCBI chr12:31,692,451...31,697,727
Ensembl chr12:31,944,785...31,950,138
JBrowse link
G SRR serine racemase ISO SMPDB SMP:00223 SMP:00485 NCBI chr17:2,294,440...2,316,244
Ensembl chr17:2,182,839...2,200,704
JBrowse link
ornithine carbamoyltransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00205 NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00205 NCBI chr 7:59,971,529...59,988,722
Ensembl chr 7:73,142,842...73,157,472
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00205 NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00205 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00205 NCBI chr12:32,426,264...32,443,690
Ensembl chr12:32,678,814...32,696,694
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00205 NCBI chr10:83,498,338...83,540,730 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00205 NCBI chr16:38,995,770...39,022,750
Ensembl chr16:58,120,781...58,147,378
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00205 NCBI chr  X:30,796,828...30,868,144
Ensembl chr  X:38,505,232...38,575,819
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00205 NCBI chr2A:65,051,025...65,086,917
Ensembl chr2A:66,176,925...66,209,615
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00205 NCBI chr19:43,765,001...43,778,981
Ensembl chr19:52,294,655...52,307,529
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00205 NCBI chr2B:59,071,123...59,297,327
Ensembl chr2B:176,532,940...176,641,894
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00205 NCBI chr13:21,996,153...22,066,574
Ensembl chr13:40,589,689...40,608,994
JBrowse link
ornithine translocase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00506 NCBI chr 1:17,829,723...17,861,008
Ensembl chr 1:18,878,421...18,909,615
JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00506 NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00506 NCBI chr 7:59,971,529...59,988,722
Ensembl chr 7:73,142,842...73,157,472
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00506 NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036
JBrowse link
G CKB creatine kinase B ISO SMPDB SMP:00506 NCBI chr14:84,145,931...84,149,093 JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00506 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00506 NCBI chr12:106,453,807...106,475,409
Ensembl chr12:109,849,995...109,870,065
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00506 NCBI chr 1:195,537,319...195,618,257
Ensembl chr 1:200,575,259...200,656,197
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00506 Ensembl chr19:1,371,312...1,375,461 JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00506 NCBI chr15:24,309,045...24,326,673
Ensembl chr15:42,639,597...42,657,209
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00506 NCBI chr10:83,498,338...83,540,730 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00506 NCBI chr10:96,012,345...96,046,266
Ensembl chr10:99,506,205...99,540,178
JBrowse link
G LOC100987322 proline dehydrogenase 1, mitochondrial ISO SMPDB SMP:00506 NCBI chr22:1,654,019...1,678,389 JBrowse link
G NOS1 nitric oxide synthase 1 ISO SMPDB SMP:00506 NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005
JBrowse link
G OAT ornithine aminotransferase ISO SMPDB SMP:00506 NCBI chr10:120,955,805...120,977,484
Ensembl chr10:125,224,032...125,245,504
JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00506 NCBI chr  X:30,796,828...30,868,144
Ensembl chr  X:38,505,232...38,575,819
JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00506 NCBI chr11:69,333,199...69,385,012
Ensembl chr11:72,647,004...72,691,294
JBrowse link