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PATHWAY ONTOLOGY - ANNOTATIONS

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

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


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2-aminoadipic 2-oxoadipic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadat aminoadipate aminotransferase ISO SMPDB SMP:00719 NCBI chr16:32,832,001...32,868,680
Ensembl chr16:32,832,061...32,868,702
JBrowse link
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00719 NCBI chr 4:50,152,005...50,208,935
Ensembl chr 4:50,152,452...50,200,328
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00719 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO SMPDB SMP:00719 NCBI chr18:51,619,007...51,651,267
Ensembl chr18:51,619,007...51,651,267
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00719 NCBI chr17:76,306,585...76,358,058
Ensembl chr17:76,306,585...76,358,058
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00719 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00719 NCBI chr 6:108,936,534...108,961,322
Ensembl chr 6:108,936,664...108,959,803
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00719 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr19:26,000,497...26,006,970
Ensembl chr19:26,000,497...26,006,970
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00719 NCBI chr10:64,951,986...64,964,865
Ensembl chr10:64,952,119...64,964,862
JBrowse link
G Slc25a2 solute carrier family 25 member 2 ISO SMPDB SMP:00719 NCBI chr18:30,774,205...30,775,401
Ensembl chr18:30,774,205...30,775,401
JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00719 NCBI chr16:54,459,409...54,513,349
Ensembl chr16:54,460,067...54,513,349
JBrowse link
2-hydroxyglutaric aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00136 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00136 NCBI chr 5:158,090,238...158,115,725
Ensembl chr 5:158,042,587...158,135,733
JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO SMPDB SMP:00136 NCBI chr17:42,133,076...42,159,413
Ensembl chr17:42,133,076...42,159,413
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00136 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00136 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00136 NCBI chr 1:191,997,512...192,025,350
Ensembl chr 1:191,997,512...192,025,350
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00136 NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00136 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO SMPDB SMP:00136 NCBI chr 2:225,827,504...225,847,876
Ensembl chr 2:225,827,504...225,847,874
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00136 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00136 NCBI chr 7:2,605,679...2,621,853
Ensembl chr 7:2,605,719...2,621,852
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00136 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Glul glutamate-ammonia ligase ISO SMPDB SMP:00136 NCBI chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00136 NCBI chr 2:154,555,967...154,590,662
Ensembl chr 2:154,555,871...154,590,662
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00136 NCBI chr15:19,721,292...19,734,032
Ensembl chr15:19,721,293...19,733,967
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00136 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00136 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00136 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00136 NCBI chr 3:151,076,254...151,106,557
Ensembl chr 3:151,076,254...151,106,557
JBrowse link
G Nadsyn1 NAD synthetase 1 ISO SMPDB SMP:00136 NCBI chr 1:216,985,710...217,013,743
Ensembl chr 1:216,985,714...217,013,702
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00136 NCBI chr 4:115,473,848...115,485,027
Ensembl chr 4:115,473,811...115,481,438
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00136 NCBI chr14:33,580,541...33,614,919
Ensembl chr14:33,580,541...33,614,919
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00136 NCBI chr 8:117,297,670...117,305,708
Ensembl chr 8:117,297,670...117,305,702
JBrowse link
3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00138 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00138 NCBI chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395
JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00138 NCBI chr 8:28,023,401...28,044,967
Ensembl chr 8:28,024,123...28,044,876
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00138 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00138 NCBI chr12:47,254,503...47,263,747
Ensembl chr12:47,254,484...47,263,747
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00138 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00138 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00138 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00138 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00138 NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00138 NCBI chr17:12,310,178...12,405,224
Ensembl chr17:12,310,214...12,405,205
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00138 NCBI chr 4:179,259,305...179,340,021
Ensembl chr 4:179,259,308...179,339,795
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00138 NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00138 NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00138 NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00138 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00138 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00138 NCBI chr 4:82,604,369...82,702,429
Ensembl chr 4:82,604,373...82,702,429
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00138 NCBI chr 9:53,446,185...53,526,727
Ensembl chr 9:53,446,194...53,526,728
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00138 NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00138 NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00138 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00138 NCBI chr 3:110,669,355...110,689,789
Ensembl chr 3:110,669,312...110,690,173
JBrowse link
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00138 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00138 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00138 NCBI chr 1:125,229,487...125,252,692
Ensembl chr 1:125,229,469...125,252,666
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00138 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00138 NCBI chr 2:53,859,738...54,007,733
Ensembl chr 2:53,859,737...54,007,756
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00138 NCBI chr15:108,960,509...109,306,879
Ensembl chr15:108,960,562...109,306,603
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00138 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
3-hydroxyacyl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00568 NCBI chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395
JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00568 NCBI chr 9:73,833,368...73,871,857
Ensembl chr 9:73,833,388...73,871,888
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00568 NCBI chr12:47,254,503...47,263,747
Ensembl chr12:47,254,484...47,263,747
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00568 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Acss3 acyl-CoA synthetase short-chain family member 3 ISO SMPDB SMP:00568 NCBI chr 7:49,047,022...49,250,953
Ensembl chr 7:49,047,013...49,250,957
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00568 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00568 NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00568 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
3-hydroxyisobutyric aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00521, SMP:00522 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00521, SMP:00522 NCBI chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395
JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 8:28,023,401...28,044,967
Ensembl chr 8:28,024,123...28,044,876
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00521, SMP:00522 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00521, SMP:00522 NCBI chr12:47,254,503...47,263,747
Ensembl chr12:47,254,484...47,263,747
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00521, SMP:00522 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00521, SMP:00522 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00521, SMP:00522 NCBI chr17:12,310,178...12,405,224
Ensembl chr17:12,310,214...12,405,205
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 4:179,259,305...179,340,021
Ensembl chr 4:179,259,308...179,339,795
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00521, SMP:00522 NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00521, SMP:00522 NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 4:82,604,369...82,702,429
Ensembl chr 4:82,604,373...82,702,429
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 9:53,446,185...53,526,727
Ensembl chr 9:53,446,194...53,526,728
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00521, SMP:00522 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 3:110,669,355...110,689,789
Ensembl chr 3:110,669,312...110,690,173
JBrowse link
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 1:125,229,487...125,252,692
Ensembl chr 1:125,229,469...125,252,666
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 2:53,859,738...54,007,733
Ensembl chr 2:53,859,737...54,007,756
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00521, SMP:00522 NCBI chr15:108,960,509...109,306,879
Ensembl chr15:108,960,562...109,306,603
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00521, SMP:00522 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
3-methylcrotonyl CoA carboxylase 1 deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00237 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00237 NCBI chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395
JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00237 NCBI chr 8:28,023,401...28,044,967
Ensembl chr 8:28,024,123...28,044,876
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00237 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00237 NCBI chr12:47,254,503...47,263,747
Ensembl chr12:47,254,484...47,263,747
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00237 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00237 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00237 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00237 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00237 NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00237 NCBI chr17:12,310,178...12,405,224
Ensembl chr17:12,310,214...12,405,205
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00237 NCBI chr 4:179,259,305...179,340,021
Ensembl chr 4:179,259,308...179,339,795
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00237 NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00237 NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00237 NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00237 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00237 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00237 NCBI chr 4:82,604,369...82,702,429
Ensembl chr 4:82,604,373...82,702,429
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00237 NCBI chr 9:53,446,185...53,526,727
Ensembl chr 9:53,446,194...53,526,728
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00237 NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00237 NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00237 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00237 NCBI chr 3:110,669,355...110,689,789
Ensembl chr 3:110,669,312...110,690,173
JBrowse link
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00237 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00237 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00237 NCBI chr 1:125,229,487...125,252,692
Ensembl chr 1:125,229,469...125,252,666
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00237 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00237 NCBI chr 2:53,859,738...54,007,733
Ensembl chr 2:53,859,737...54,007,756
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00237 NCBI chr15:108,960,509...109,306,879
Ensembl chr15:108,960,562...109,306,603
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00237 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
3-methylglutaconic aciduria type 1 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00139 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00139 NCBI chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395
JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00139 NCBI chr 8:28,023,401...28,044,967
Ensembl chr 8:28,024,123...28,044,876
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00139 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00139 NCBI chr12:47,254,503...47,263,747
Ensembl chr12:47,254,484...47,263,747
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00139 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00139 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00139 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00139 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00139 NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00139 NCBI chr17:12,310,178...12,405,224
Ensembl chr17:12,310,214...12,405,205
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00139 NCBI chr 4:179,259,305...179,340,021
Ensembl chr 4:179,259,308...179,339,795
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00139 NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00139 NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00139 NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00139 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00139 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00139 NCBI chr 4:82,604,369...82,702,429
Ensembl chr 4:82,604,373...82,702,429
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00139 NCBI chr 9:53,446,185...53,526,727
Ensembl chr 9:53,446,194...53,526,728
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00139 NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00139 NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00139 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00139 NCBI chr 3:110,669,355...110,689,789
Ensembl chr 3:110,669,312...110,690,173
JBrowse link
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00139 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00139 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00139 NCBI chr 1:125,229,487...125,252,692
Ensembl chr 1:125,229,469...125,252,666
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00139 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00139 NCBI chr 2:53,859,738...54,007,733
Ensembl chr 2:53,859,737...54,007,756
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00139 NCBI chr15:108,960,509...109,306,879
Ensembl chr15:108,960,562...109,306,603
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00139 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
3-methylglutaconic aciduria type 3 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00140 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00140 NCBI chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395
JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00140 NCBI chr 8:28,023,401...28,044,967
Ensembl chr 8:28,024,123...28,044,876
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00140 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00140 NCBI chr12:47,254,503...47,263,747
Ensembl chr12:47,254,484...47,263,747
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00140 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00140 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00140 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00140 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00140 NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00140 NCBI chr17:12,310,178...12,405,224
Ensembl chr17:12,310,214...12,405,205
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00140 NCBI chr 4:179,259,305...179,340,021
Ensembl chr 4:179,259,308...179,339,795
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00140 NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00140 NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00140 NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00140 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00140 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00140 NCBI chr 4:82,604,369...82,702,429
Ensembl chr 4:82,604,373...82,702,429
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00140 NCBI chr 9:53,446,185...53,526,727
Ensembl chr 9:53,446,194...53,526,728
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00140 NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00140 NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00140 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00140 NCBI chr 3:110,669,355...110,689,789
Ensembl chr 3:110,669,312...110,690,173
JBrowse link
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00140 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00140 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00140 NCBI chr 1:125,229,487...125,252,692
Ensembl chr 1:125,229,469...125,252,666
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00140 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00140 NCBI chr 2:53,859,738...54,007,733
Ensembl chr 2:53,859,737...54,007,756
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00140 NCBI chr15:108,960,509...109,306,879
Ensembl chr15:108,960,562...109,306,603
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00140 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
acute intermittent porphyria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO SMPDB SMP:00344 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00344 NCBI chr 8:114,927,704...114,941,038
Ensembl chr 8:114,927,722...114,940,177
JBrowse link
G Blvra biliverdin reductase A ISO SMPDB SMP:00344 NCBI chr 3:119,552,550...119,577,796
Ensembl chr 3:119,561,290...119,577,806
JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO SMPDB SMP:00344 NCBI chr10:50,439,778...50,563,920
Ensembl chr10:50,439,782...50,574,539
JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO SMPDB SMP:00344 NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505
JBrowse link
G Cpox coproporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chr11:44,039,665...44,049,648
Ensembl chr11:44,039,669...44,049,648
JBrowse link
G Fech ferrochelatase ISO SMPDB SMP:00344 NCBI chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192
JBrowse link
G Ftmt ferritin mitochondrial ISO SMPDB SMP:00344 NCBI chr18:47,294,292...47,295,541
Ensembl chr18:47,294,292...47,295,541
JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00344 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO SMPDB SMP:00344 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Hmox1 heme oxygenase 1 ISO SMPDB SMP:00344 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Ppox protoporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chr13:89,650,094...89,654,998
Ensembl chr13:89,650,094...89,654,244
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO SMPDB SMP:00344 NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643
JBrowse link
G Uros uroporphyrinogen III synthase ISO SMPDB SMP:00344 NCBI chr 1:205,755,766...205,778,170
Ensembl chr 1:205,756,640...205,777,167
JBrowse link
adenine phoshoribosyltransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00535 NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00535 NCBI chr13:83,701,952...83,787,010
Ensembl chr13:83,721,300...83,787,018
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00535 NCBI chr 7:122,157,201...122,192,328
Ensembl chr 7:122,157,201...122,192,328
JBrowse link
G Adss adenylosuccinate synthase ISO SMPDB SMP:00535 NCBI chr13:95,913,426...95,943,761
Ensembl chr13:95,913,426...95,943,761
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00535 NCBI chr 3:11,652,143...11,659,135 JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00535 NCBI chr 2:205,568,934...205,589,961
Ensembl chr 2:205,568,935...205,590,021
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00535 NCBI chr19:55,387,288...55,389,256
Ensembl chr19:55,387,288...55,389,256
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00535 NCBI chr 1:251,234,702...251,386,996
Ensembl chr 1:251,235,508...251,387,002
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00535 NCBI chr 9:78,862,013...78,882,061
Ensembl chr 9:78,862,013...78,882,060
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00535 NCBI chr 4:115,180,433...115,208,061
Ensembl chr 4:115,180,433...115,208,061
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00535 NCBI chr 6:108,087,677...108,123,811
Ensembl chr 6:108,087,418...108,120,579
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00535 NCBI chr 3:2,286,363...2,299,720
Ensembl chr 3:2,288,667...2,302,782
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00535 NCBI chr11:31,780,477...31,805,728
Ensembl chr11:31,780,487...31,805,728
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00535 NCBI chr 1:238,982,542...239,057,663
Ensembl chr 1:238,982,392...239,057,732
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00535 NCBI chr17:19,543,274...19,580,929
Ensembl chr17:19,543,275...19,580,929
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00535 NCBI chr 2:154,555,967...154,590,662
Ensembl chr 2:154,555,871...154,590,662
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00535 NCBI chr 8:408,001...899,851
Ensembl chr 8:408,001...899,974
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00535 NCBI chr 2:180,976,939...181,026,001
Ensembl chr 2:180,976,939...181,026,024
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00535 NCBI chr10:45,535,617...45,552,455
Ensembl chr10:45,535,627...45,543,897
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00535 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00535 NCBI chr 4:56,478,383...56,493,987
Ensembl chr 4:56,478,384...56,493,923
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00535 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00535 NCBI chr 8:117,920,912...117,928,148
Ensembl chr 8:117,920,944...117,928,195
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00535 NCBI chr 1:266,652,966...266,782,935
Ensembl chr 1:266,659,519...266,782,910
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00535 NCBI chr 5:57,845,819...57,860,658
Ensembl chr 5:57,845,819...57,860,658
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00535 NCBI chr17:76,387,027...76,410,309
Ensembl chr17:76,387,031...76,410,294
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00535 NCBI chr14:33,563,884...33,580,944
Ensembl chr14:33,563,886...33,580,566
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00535 NCBI chr 1:52,360,296...52,544,448
Ensembl chr 1:52,360,296...52,544,450
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00535 NCBI chr 2:40,219,999...41,468,551
Ensembl chr 2:40,554,146...41,464,264
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00535 NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00535 NCBI chr15:27,875,883...27,883,566
Ensembl chr15:27,875,911...27,883,350
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00535 NCBI chr14:33,580,541...33,614,919
Ensembl chr14:33,580,541...33,614,919
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00535 NCBI chr 6:54,417,903...54,419,593
Ensembl chr 6:54,417,903...54,419,593
JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00535 NCBI chr 1:167,538,387...167,562,688
Ensembl chr 1:167,538,263...167,562,688
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00535 NCBI chr 6:43,884,627...43,890,818
Ensembl chr 6:43,884,678...43,889,515
JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00535 NCBI chr 5:75,049,735...75,057,731
Ensembl chr 5:75,049,747...75,057,752
JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00535 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
adenosine monophosphate deaminase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00537 NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00537 NCBI chr13:83,701,952...83,787,010
Ensembl chr13:83,721,300...83,787,018
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00537 NCBI chr 7:122,157,201...122,192,328
Ensembl chr 7:122,157,201...122,192,328
JBrowse link
G Adss adenylosuccinate synthase ISO SMPDB SMP:00537 NCBI chr13:95,913,426...95,943,761
Ensembl chr13:95,913,426...95,943,761
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00537 NCBI chr 3:11,652,143...11,659,135 JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00537 NCBI chr 2:205,568,934...205,589,961
Ensembl chr 2:205,568,935...205,590,021
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00537 NCBI chr19:55,387,288...55,389,256
Ensembl chr19:55,387,288...55,389,256
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00537 NCBI chr 1:251,234,702...251,386,996
Ensembl chr 1:251,235,508...251,387,002
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00537 NCBI chr 9:78,862,013...78,882,061
Ensembl chr 9:78,862,013...78,882,060
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00537 NCBI chr 4:115,180,433...115,208,061
Ensembl chr 4:115,180,433...115,208,061
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00537 NCBI chr 6:108,087,677...108,123,811
Ensembl chr 6:108,087,418...108,120,579
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00537 NCBI chr 3:2,286,363...2,299,720
Ensembl chr 3:2,288,667...2,302,782
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00537 NCBI chr11:31,780,477...31,805,728
Ensembl chr11:31,780,487...31,805,728
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00537 NCBI chr 1:238,982,542...239,057,663
Ensembl chr 1:238,982,392...239,057,732
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00537 NCBI chr17:19,543,274...19,580,929
Ensembl chr17:19,543,275...19,580,929
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00537 NCBI chr 2:154,555,967...154,590,662
Ensembl chr 2:154,555,871...154,590,662
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00537 NCBI chr 8:408,001...899,851
Ensembl chr 8:408,001...899,974
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00537 NCBI chr 2:180,976,939...181,026,001
Ensembl chr 2:180,976,939...181,026,024
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00537 NCBI chr10:45,535,617...45,552,455
Ensembl chr10:45,535,627...45,543,897
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00537 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00537 NCBI chr 4:56,478,383...56,493,987
Ensembl chr 4:56,478,384...56,493,923
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00537 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00537 NCBI chr 8:117,920,912...117,928,148
Ensembl chr 8:117,920,944...117,928,195
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00537 NCBI chr 1:266,652,966...266,782,935
Ensembl chr 1:266,659,519...266,782,910
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00537 NCBI chr 5:57,845,819...57,860,658
Ensembl chr 5:57,845,819...57,860,658
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00537 NCBI chr17:76,387,027...76,410,309
Ensembl chr17:76,387,031...76,410,294
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00537 NCBI chr14:33,563,884...33,580,944
Ensembl chr14:33,563,886...33,580,566
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00537 NCBI chr 1:52,360,296...52,544,448
Ensembl chr 1:52,360,296...52,544,450
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00537 NCBI chr 2:40,219,999...41,468,551
Ensembl chr 2:40,554,146...41,464,264
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00537 NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00537 NCBI chr15:27,875,883...27,883,566
Ensembl chr15:27,875,911...27,883,350
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00537 NCBI chr14:33,580,541...33,614,919
Ensembl chr14:33,580,541...33,614,919
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00537 NCBI chr 6:54,417,903...54,419,593
Ensembl chr 6:54,417,903...54,419,593
JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00537 NCBI chr 1:167,538,387...167,562,688
Ensembl chr 1:167,538,263...167,562,688
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00537 NCBI chr 6:43,884,627...43,890,818
Ensembl chr 6:43,884,678...43,889,515
JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00537 NCBI chr 5:75,049,735...75,057,731
Ensembl chr 5:75,049,747...75,057,752
JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00537 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
adenylosuccinate lyase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00167 NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00167 NCBI chr13:83,701,952...83,787,010
Ensembl chr13:83,721,300...83,787,018
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00167 NCBI chr 7:122,157,201...122,192,328
Ensembl chr 7:122,157,201...122,192,328
JBrowse link
G Adss adenylosuccinate synthase ISO SMPDB SMP:00167 NCBI chr13:95,913,426...95,943,761
Ensembl chr13:95,913,426...95,943,761
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00167 NCBI chr 3:11,652,143...11,659,135 JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00167 NCBI chr 2:205,568,934...205,589,961
Ensembl chr 2:205,568,935...205,590,021
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00167 NCBI chr19:55,387,288...55,389,256
Ensembl chr19:55,387,288...55,389,256
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00167 NCBI chr 1:251,234,702...251,386,996
Ensembl chr 1:251,235,508...251,387,002
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00167 NCBI chr 9:78,862,013...78,882,061
Ensembl chr 9:78,862,013...78,882,060
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00167 NCBI chr 4:115,180,433...115,208,061
Ensembl chr 4:115,180,433...115,208,061
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00167 NCBI chr 6:108,087,677...108,123,811
Ensembl chr 6:108,087,418...108,120,579
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00167 NCBI chr 3:2,286,363...2,299,720
Ensembl chr 3:2,288,667...2,302,782
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00167 NCBI chr11:31,780,477...31,805,728
Ensembl chr11:31,780,487...31,805,728
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00167 NCBI chr 1:238,982,542...239,057,663
Ensembl chr 1:238,982,392...239,057,732
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00167 NCBI chr17:19,543,274...19,580,929
Ensembl chr17:19,543,275...19,580,929
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00167 NCBI chr 2:154,555,967...154,590,662
Ensembl chr 2:154,555,871...154,590,662
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00167 NCBI chr 8:408,001...899,851
Ensembl chr 8:408,001...899,974
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00167 NCBI chr 2:180,976,939...181,026,001
Ensembl chr 2:180,976,939...181,026,024
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00167 NCBI chr10:45,535,617...45,552,455
Ensembl chr10:45,535,627...45,543,897
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00167 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00167 NCBI chr 4:56,478,383...56,493,987
Ensembl chr 4:56,478,384...56,493,923
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00167 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00167 NCBI chr 8:117,920,912...117,928,148
Ensembl chr 8:117,920,944...117,928,195
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00167 NCBI chr 1:266,652,966...266,782,935
Ensembl chr 1:266,659,519...266,782,910
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00167 NCBI chr 5:57,845,819...57,860,658
Ensembl chr 5:57,845,819...57,860,658
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00167 NCBI chr17:76,387,027...76,410,309
Ensembl chr17:76,387,031...76,410,294
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00167 NCBI chr14:33,563,884...33,580,944
Ensembl chr14:33,563,886...33,580,566
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00167 NCBI chr 1:52,360,296...52,544,448
Ensembl chr 1:52,360,296...52,544,450
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00167 NCBI chr 2:40,219,999...41,468,551
Ensembl chr 2:40,554,146...41,464,264
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00167 NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00167 NCBI chr15:27,875,883...27,883,566
Ensembl chr15:27,875,911...27,883,350
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00167 NCBI chr14:33,580,541...33,614,919
Ensembl chr14:33,580,541...33,614,919
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00167 NCBI chr 6:54,417,903...54,419,593
Ensembl chr 6:54,417,903...54,419,593
JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00167 NCBI chr 1:167,538,387...167,562,688
Ensembl chr 1:167,538,263...167,562,688
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00167 NCBI chr 6:43,884,627...43,890,818
Ensembl chr 6:43,884,678...43,889,515
JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00167 NCBI chr 5:75,049,735...75,057,731
Ensembl chr 5:75,049,747...75,057,752
JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00167 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
adrenoleukodystrophy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO SMPDB SMP:00516 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274
JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00516 NCBI chr 7:132,294,564...132,343,169
Ensembl chr 7:132,294,562...132,343,169
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00516 NCBI chr16:48,937,456...49,003,898
Ensembl chr16:48,937,456...49,003,246
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00516 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link
G Crat carnitine O-acetyltransferase ISO SMPDB SMP:00516 NCBI chr 3:8,967,984...8,981,959
Ensembl chr 3:8,968,417...8,981,362
JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00516 NCBI chr 4:22,079,837...22,116,265
Ensembl chr 4:22,081,604...22,116,265
JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00516 NCBI chr12:2,000,426...2,007,516
Ensembl chr12:2,000,427...2,007,516
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00516 NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00516 NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO SMPDB SMP:00516 NCBI chr 8:117,455,308...117,476,762
Ensembl chr 8:117,455,262...117,476,734
JBrowse link
AGAT deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr 5:158,090,238...158,115,725
Ensembl chr 5:158,042,587...158,135,733
JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00362, SMP:00507 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00362, SMP:00507 NCBI chr 6:136,142,956...136,145,838
Ensembl chr 6:136,142,956...136,145,837
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Dao D-amino-acid oxidase ISO SMPDB SMP:00362, SMP:00507 NCBI chr12:48,353,691...48,373,647
Ensembl chr12:48,354,196...48,365,784
JBrowse link
G Eprs glutamyl-prolyl-tRNA synthetase ISO SMPDB SMP:00362, SMP:00507 NCBI chr13:103,300,911...103,371,651
Ensembl chr13:103,300,932...103,371,577
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00362, SMP:00507 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00362, SMP:00507 NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00362, SMP:00507 NCBI chr 1:204,562,289...204,582,070
Ensembl chr 1:204,562,289...204,582,070
JBrowse link
G Otc ornithine carbamoyltransferase ISO SMPDB SMP:00362, SMP:00507 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00362, SMP:00507 NCBI chr 1:165,295,835...165,330,922
Ensembl chr 1:165,295,847...165,330,322
JBrowse link
G Prodh1 proline dehydrogenase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr11:87,058,478...87,075,785
Ensembl chr11:87,058,616...87,075,785
JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00362, SMP:00507 NCBI chr13:99,184,624...99,188,418
Ensembl chr13:99,184,564...99,188,431
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00362, SMP:00507 NCBI chr 5:50,075,510...50,127,625
Ensembl chr 5:50,075,527...50,127,424
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00362, SMP:00507 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
JBrowse link
AICA-ribosuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00168 NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00168 NCBI chr13:83,701,952...83,787,010
Ensembl chr13:83,721,300...83,787,018
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00168 NCBI chr 7:122,157,201...122,192,328
Ensembl chr 7:122,157,201...122,192,328
JBrowse link
G Adss adenylosuccinate synthase ISO SMPDB SMP:00168 NCBI chr13:95,913,426...95,943,761
Ensembl chr13:95,913,426...95,943,761
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00168 NCBI chr 3:11,652,143...11,659,135 JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00168 NCBI chr 2:205,568,934...205,589,961
Ensembl chr 2:205,568,935...205,590,021
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00168 NCBI chr19:55,387,288...55,389,256
Ensembl chr19:55,387,288...55,389,256
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00168 NCBI chr 1:251,234,702...251,386,996
Ensembl chr 1:251,235,508...251,387,002
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00168 NCBI chr 9:78,862,013...78,882,061
Ensembl chr 9:78,862,013...78,882,060
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00168 NCBI chr 4:115,180,433...115,208,061
Ensembl chr 4:115,180,433...115,208,061
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00168 NCBI chr 6:108,087,677...108,123,811
Ensembl chr 6:108,087,418...108,120,579
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00168 NCBI chr 3:2,286,363...2,299,720
Ensembl chr 3:2,288,667...2,302,782
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00168 NCBI chr11:31,780,477...31,805,728
Ensembl chr11:31,780,487...31,805,728
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00168 NCBI chr 1:238,982,542...239,057,663
Ensembl chr 1:238,982,392...239,057,732
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00168 NCBI chr17:19,543,274...19,580,929
Ensembl chr17:19,543,275...19,580,929
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00168 NCBI chr 2:154,555,967...154,590,662
Ensembl chr 2:154,555,871...154,590,662
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00168 NCBI chr 8:408,001...899,851
Ensembl chr 8:408,001...899,974
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00168 NCBI chr 2:180,976,939...181,026,001
Ensembl chr 2:180,976,939...181,026,024
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00168 NCBI chr10:45,535,617...45,552,455
Ensembl chr10:45,535,627...45,543,897
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00168 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00168 NCBI chr 4:56,478,383...56,493,987
Ensembl chr 4:56,478,384...56,493,923
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00168 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00168 NCBI chr 8:117,920,912...117,928,148
Ensembl chr 8:117,920,944...117,928,195
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00168 NCBI chr 1:266,652,966...266,782,935
Ensembl chr 1:266,659,519...266,782,910
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00168 NCBI chr 5:57,845,819...57,860,658
Ensembl chr 5:57,845,819...57,860,658
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00168 NCBI chr17:76,387,027...76,410,309
Ensembl chr17:76,387,031...76,410,294
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00168 NCBI chr14:33,563,884...33,580,944
Ensembl chr14:33,563,886...33,580,566
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00168 NCBI chr 1:52,360,296...52,544,448
Ensembl chr 1:52,360,296...52,544,450
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00168 NCBI chr 2:40,219,999...41,468,551
Ensembl chr 2:40,554,146...41,464,264
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00168 NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00168 NCBI chr15:27,875,883...27,883,566
Ensembl chr15:27,875,911...27,883,350
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00168 NCBI chr14:33,580,541...33,614,919
Ensembl chr14:33,580,541...33,614,919
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00168 NCBI chr 6:54,417,903...54,419,593
Ensembl chr 6:54,417,903...54,419,593
JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00168 NCBI chr 1:167,538,387...167,562,688
Ensembl chr 1:167,538,263...167,562,688
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00168 NCBI chr 6:43,884,627...43,890,818
Ensembl chr 6:43,884,678...43,889,515
JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00168 NCBI chr 5:75,049,735...75,057,731
Ensembl chr 5:75,049,747...75,057,752
JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00168 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
alkaptonuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00169 NCBI chr10:47,490,168...47,499,855
Ensembl chr10:47,490,153...47,499,876
JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO SMPDB SMP:00169 NCBI chr 4:78,496,043...78,515,582
Ensembl chr 4:78,496,043...78,515,584
JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00169 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00169 NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00169 NCBI chr15:103,208,174...103,245,033
Ensembl chr15:103,208,258...103,244,494
JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00169 NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00169 NCBI chr 1:146,713,663...146,736,339
Ensembl chr 1:146,713,676...146,736,261
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00169 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00169 NCBI chr 6:111,176,798...111,187,246
Ensembl chr 6:111,176,798...111,187,244
JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00169 NCBI chr 6:7,045,145...7,059,227
Ensembl chr 6:7,045,152...7,058,314
JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00169 NCBI chr11:65,983,221...66,034,555
Ensembl chr11:65,983,221...66,034,573
JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00169 NCBI chr12:38,828,606...38,839,956
Ensembl chr12:38,828,444...38,839,969
JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00169 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
JBrowse link
G Mif macrophage migration inhibitory factor ISO SMPDB SMP:00169 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO SMPDB SMP:00169 NCBI chr10:86,340,893...86,342,501
Ensembl chr10:86,340,940...86,342,858
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00169 NCBI chr19:41,675,639...41,686,195
Ensembl chr19:41,675,355...41,686,229
JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00169 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
apparent mineralocorticoid excess syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00717 NCBI chr17:69,441,253...69,460,334
Ensembl chr17:69,441,223...69,460,321
JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00717 NCBI chr 4:65,110,706...65,143,930
Ensembl chr 4:65,110,746...65,143,941
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO SMPDB SMP:00717 NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO SMPDB SMP:00717 NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO SMPDB SMP:00717 NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO SMPDB SMP:00717 NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00717 NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00717 NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO SMPDB SMP:00717
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00717 NCBI chr 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
JBrowse link
argininosuccinic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00003 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00003 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00003 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00003 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00003 NCBI chr 7:2,605,679...2,621,853
Ensembl chr 7:2,605,719...2,621,852
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00003 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00003 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00003 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Otc ornithine carbamoyltransferase ISO SMPDB SMP:00003 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00003 NCBI chr14:104,582,884...104,612,417
Ensembl chr14:104,581,190...104,612,597
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00003 NCBI chr 1:78,710,686...78,724,789
Ensembl chr 1:78,710,539...78,724,794
JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00003 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00003 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
JBrowse link
aromatic L-amino acid decarboxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00170 NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00170 NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO SMPDB SMP:00170 NCBI chr10:86,340,893...86,342,501
Ensembl chr10:86,340,940...86,342,858
JBrowse link
G Th tyrosine hydroxylase ISO SMPDB SMP:00170 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
beta-ureidopropionase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak3 adenylate kinase 3 ISO SMPDB SMP:00172 NCBI chr 1:247,144,486...247,169,690
Ensembl chr 1:247,144,491...247,169,693
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00172 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00172 NCBI chr10:107,432,500...107,445,634
Ensembl chr10:107,432,506...107,445,522
JBrowse link
G Cda cytidine deaminase ISO SMPDB SMP:00172 NCBI chr 5:156,703,579...156,734,541
Ensembl chr 5:156,703,579...156,734,541
JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00172 NCBI chr 6:45,683,242...45,694,824
Ensembl chr 6:45,683,234...45,694,822
JBrowse link
G Ctps1 CTP synthase 1 ISO SMPDB SMP:00172 NCBI chr 5:139,475,934...139,505,065
Ensembl chr 5:139,475,934...139,505,065
JBrowse link
G Dctd dCMP deaminase ISO SMPDB SMP:00172 NCBI chr16:47,177,144...47,222,850
Ensembl chr16:47,177,145...47,208,110
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00172 NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00172 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00172 NCBI chr 7:78,769,918...78,847,941
Ensembl chr 7:78,769,807...78,847,974
JBrowse link
G Dut deoxyuridine triphosphatase ISO SMPDB SMP:00172 NCBI chr 3:117,514,399...117,525,450
Ensembl chr 3:117,514,444...117,525,446
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00172 NCBI chr 1:238,982,542...239,057,663
Ensembl chr 1:238,982,392...239,057,732
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00172 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00172 NCBI chr 8:117,920,912...117,928,148
Ensembl chr 8:117,920,944...117,928,195
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00172 NCBI chr 1:266,652,966...266,782,935
Ensembl chr 1:266,659,519...266,782,910
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00172 NCBI chr 6:43,884,627...43,890,818
Ensembl chr 6:43,884,678...43,889,515
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00172 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
JBrowse link
G Tk1 thymidine kinase 1 ISO SMPDB SMP:00172 NCBI chr10:106,817,556...106,828,888
Ensembl chr10:106,817,601...106,828,884
JBrowse link
G Tymp thymidine phosphorylase ISO SMPDB SMP:00172 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
G Tyms thymidylate synthetase ISO SMPDB SMP:00172 NCBI chr 9:121,918,875...121,931,564
Ensembl chr 9:121,918,947...121,931,564
JBrowse link
G Uckl1 uridine-cytidine kinase 1-like 1 ISO SMPDB SMP:00172 NCBI chr 3:177,066,022...177,078,611
Ensembl chr 3:177,066,014...177,078,594
JBrowse link
G Umps uridine monophosphate synthetase ISO SMPDB SMP:00172 NCBI chr11:70,034,181...70,044,590
Ensembl chr11:70,034,139...70,044,628
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00172 NCBI chr20:14,167,383...14,193,724
Ensembl chr20:14,167,586...14,193,690
JBrowse link
G Upp2 uridine phosphorylase 2 ISO SMPDB SMP:00172 NCBI chr 3:44,806,106...44,846,464
Ensembl chr 3:44,806,106...44,846,464
JBrowse link
biotinidase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btd biotinidase ISO SMPDB SMP:00174 NCBI chr16:7,758,192...7,791,301
Ensembl chr16:7,758,996...7,791,243
JBrowse link
G Hlcs holocarboxylase synthetase ISO SMPDB SMP:00174 NCBI chr11:34,357,372...34,537,798
Ensembl chr11:34,352,287...34,526,931
JBrowse link
G Spcs1 signal peptidase complex subunit 1 ISO SMPDB SMP:00174 NCBI chr16:7,080,389...7,081,957
Ensembl chr16:7,080,454...7,082,193
JBrowse link
Canavan disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00175 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00175 NCBI chr 7:122,157,201...122,192,328
Ensembl chr 7:122,157,201...122,192,328
JBrowse link
G Adssl1 adenylosuccinate synthase like 1 ISO SMPDB SMP:00175 NCBI chr 6:137,184,818...137,206,694
Ensembl chr 6:137,184,820...137,206,693
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00175 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO SMPDB SMP:00175 NCBI chr 4:33,742,876...33,761,106
Ensembl chr 4:33,743,364...33,761,163
JBrowse link
G Aspa aspartoacylase ISO SMPDB SMP:00175 NCBI chr10:59,839,693...59,888,244
Ensembl chr10:59,839,852...59,892,960
JBrowse link
G Asrgl1 asparaginase and isoaspartyl peptidase 1 ISO SMPDB SMP:00175 NCBI chr 1:225,309,737...225,329,743
Ensembl chr 1:225,309,246...225,329,770
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00175 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Dars1 aspartyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chr13:45,074,067...45,127,815
Ensembl chr13:45,074,072...45,127,815
JBrowse link
G Ddo D-aspartate oxidase ISO SMPDB SMP:00175 NCBI chr20:48,739,812...48,758,958
Ensembl chr20:48,739,639...48,758,905
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00175 NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00175 NCBI chr 1:100,811,727...100,836,901
Ensembl chr 1:100,830,064...100,836,677
JBrowse link
G Nars1 asparaginyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chr18:59,986,350...60,002,644
Ensembl chr18:59,986,360...60,002,569
JBrowse link
carbamoyl phosphate synthetase I deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00002 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chr 7:2,605,679...2,621,853
Ensembl chr 7:2,605,719...2,621,852
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00002 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Otc ornithine carbamoyltransferase ISO SMPDB SMP:00002 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chr14:104,582,884...104,612,417
Ensembl chr14:104,581,190...104,612,597
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chr 1:78,710,686...78,724,789
Ensembl chr 1:78,710,539...78,724,794
JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
JBrowse link
carnitine palmitoyltransferase I deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00538 NCBI chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395
JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00538 NCBI chr 9:73,833,368...73,871,857
Ensembl chr 9:73,833,388...73,871,888
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00538 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00538 NCBI chr12:47,254,503...47,263,747
Ensembl chr12:47,254,484...47,263,747
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00538 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO SMPDB SMP:00538 NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00538 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00538 NCBI chr16:48,937,456...49,003,898
Ensembl chr16:48,937,456...49,003,246
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00538 NCBI chr 1:218,568,157...218,629,679
Ensembl chr 1:218,569,510...218,629,678
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00538 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00538 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00538 NCBI chr19:26,000,497...26,006,970
Ensembl chr19:26,000,497...26,006,970
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00538 NCBI chr 6:27,589,840...27,628,921
Ensembl chr 6:27,589,657...27,629,175
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00538 NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
JBrowse link
carnitine-acylcarnitine translocase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO SMPDB SMP:00517 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274
JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00517 NCBI chr 7:132,294,564...132,343,169
Ensembl chr 7:132,294,562...132,343,169
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00517 NCBI chr16:48,937,456...49,003,898
Ensembl chr16:48,937,456...49,003,246
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link
G Crat carnitine O-acetyltransferase ISO SMPDB SMP:00517 NCBI chr 3:8,967,984...8,981,959
Ensembl chr 3:8,968,417...8,981,362
JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chr 4:22,079,837...22,116,265
Ensembl chr 4:22,081,604...22,116,265
JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chr12:2,000,426...2,007,516
Ensembl chr12:2,000,427...2,007,516
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00517 NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO SMPDB SMP:00517 NCBI chr 8:117,455,308...117,476,762
Ensembl chr 8:117,455,262...117,476,734
JBrowse link
carnosinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00493 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00493 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00493 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO SMPDB SMP:00493 NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO SMPDB SMP:00493 NCBI chr18:81,466,717...81,512,841
Ensembl chr18:81,466,716...81,499,051
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00493 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00493 NCBI chr 7:78,769,918...78,847,941
Ensembl chr 7:78,769,807...78,847,974
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00493 NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00493 NCBI chr20:14,167,383...14,193,724
Ensembl chr20:14,167,586...14,193,690
JBrowse link
cerebrotendinous xanthomatosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO SMPDB SMP:00315 NCBI chr15:18,449,304...18,481,472
Ensembl chr15:18,451,144...18,481,470
JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00315 NCBI chr17:69,441,253...69,460,334
Ensembl chr17:69,441,223...69,460,321
JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00315 NCBI chr 4:65,110,706...65,143,930
Ensembl chr 4:65,110,746...65,143,941
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00315 NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO SMPDB SMP:00315 NCBI chr 5:64,768,397...64,777,368
Ensembl chr 5:64,768,401...64,777,368
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00315 NCBI chr 1:252,807,062...252,811,409
Ensembl chr 1:252,807,065...252,808,380
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
JBrowse link
G Cyp39a1 cytochrome P450, family 39, subfamily a, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 9:19,804,079...19,880,346
Ensembl chr 9:19,804,079...19,880,346
JBrowse link
G Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 6:132,242,328...132,273,788
Ensembl chr 6:132,242,328...132,273,787
JBrowse link
G Cyp7a1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr 5:19,358,734...19,368,431
Ensembl chr 5:19,358,734...19,368,431
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00315 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
JBrowse link
G Cyp8b1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00315 NCBI chr 8:130,548,418...130,550,388
Ensembl chr 8:130,548,418...130,550,388
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO SMPDB SMP:00315 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00315 NCBI chr 1:199,248,084...199,251,745
Ensembl chr 1:199,248,470...199,251,740
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00315 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904
JBrowse link
G Scp2 sterol carrier protein 2 ISO SMPDB SMP:00315 NCBI chr 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739
JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00315 NCBI chr 1:65,576,599...65,587,192
Ensembl chr 1:65,576,535...65,587,186
JBrowse link
cholesterol ester storage disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00508 NCBI chr 1:47,972,399...47,992,654
Ensembl chr 1:47,972,399...47,992,653
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00508 NCBI chr 4:27,175,564...27,194,018
Ensembl chr 4:27,175,243...27,194,018
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00508 NCBI chr 5:126,164,708...126,188,926
Ensembl chr 5:126,164,674...126,191,206
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00508 NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00508 NCBI chr15:46,339,248...46,367,302
Ensembl chr15:46,339,249...46,367,302
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00508 NCBI chr 2:188,403,595...188,413,219
Ensembl chr 2:188,392,858...188,413,219
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00508 NCBI chr17:53,956,185...53,971,039
Ensembl chr17:53,956,203...53,971,443
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00508 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00508 NCBI chr 2:52,427,351...52,445,082
Ensembl chr 2:52,431,601...52,445,055
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00508 NCBI chr13:88,288,116...88,308,019
Ensembl chr13:88,288,046...88,307,988
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00508 NCBI chr17:57,976,266...57,984,036
Ensembl chr17:57,976,268...57,984,036
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00508 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00508 NCBI chr20:12,844,522...12,870,474
Ensembl chr20:12,842,884...12,870,497
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00508 NCBI chr16:26,859,441...26,875,880
Ensembl chr16:26,859,397...26,875,973
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00508 NCBI chr19:55,258,910...55,268,933
Ensembl chr19:55,258,905...55,268,951
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00508 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00508 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00508 NCBI chr 2:188,784,329...188,793,890
Ensembl chr 2:188,784,222...188,793,895
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00508 NCBI chr 8:46,525,406...46,537,014
Ensembl chr 8:46,525,400...46,537,050
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00508 NCBI chr13:74,035,258...74,077,759
Ensembl chr13:74,035,080...74,077,783
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00508 NCBI chr 7:99,609,929...99,624,803
Ensembl chr 7:99,609,191...99,624,732
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00508 NCBI chr 1:221,426,017...221,430,340
Ensembl chr 1:221,425,987...221,431,713
JBrowse link
citrullinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00001 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00001 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00001 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00001 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00001 NCBI chr 7:2,605,679...2,621,853
Ensembl chr 7:2,605,719...2,621,852
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00001 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00001 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00001 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Otc ornithine carbamoyltransferase ISO SMPDB SMP:00001 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00001 NCBI chr14:104,582,884...104,612,417
Ensembl chr14:104,581,190...104,612,597
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00001 NCBI chr 1:78,710,686...78,724,789
Ensembl chr 1:78,710,539...78,724,794
JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00001 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00001 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
JBrowse link
congenital bile acid synthesis defect pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO SMPDB SMP:00314, SMP:00318 NCBI chr15:18,449,304...18,481,472
Ensembl chr15:18,451,144...18,481,470
JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr17:69,441,253...69,460,334
Ensembl chr17:69,441,223...69,460,321
JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 4:65,110,706...65,143,930
Ensembl chr 4:65,110,746...65,143,941
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00314, SMP:00318 NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO SMPDB SMP:00314, SMP:00318 NCBI chr 5:64,768,397...64,777,368
Ensembl chr 5:64,768,401...64,777,368
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00314, SMP:00318 NCBI chr 1:252,807,062...252,811,409
Ensembl chr 1:252,807,065...252,808,380
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
JBrowse link
G Cyp39a1 cytochrome P450, family 39, subfamily a, polypeptide 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 9:19,804,079...19,880,346
Ensembl chr 9:19,804,079...19,880,346
JBrowse link
G Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 6:132,242,328...132,273,788
Ensembl chr 6:132,242,328...132,273,787
JBrowse link
G Cyp7a1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 5:19,358,734...19,368,431
Ensembl chr 5:19,358,734...19,368,431
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
JBrowse link
G Cyp8b1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 8:130,548,418...130,550,388
Ensembl chr 8:130,548,418...130,550,388
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO SMPDB SMP:00314, SMP:00318 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 1:199,248,084...199,251,745
Ensembl chr 1:199,248,470...199,251,740
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00314, SMP:00318 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904
JBrowse link
G Scp2 sterol carrier protein 2 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739
JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 1:65,576,599...65,587,192
Ensembl chr 1:65,576,535...65,587,186
JBrowse link
congenital sucrase-isomaltase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO SMPDB SMP:00557 NCBI chr 2:219,788,234...219,843,189
Ensembl chr 2:219,788,234...219,842,986
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00557 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00557 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00557 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00557 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00557 NCBI chr 4:176,638,632...176,679,805
Ensembl chr 4:176,638,629...176,679,815
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00557 NCBI chr 4:113,559,396...113,609,897
Ensembl chr 4:113,559,427...113,610,243
JBrowse link
G Mgam maltase-glucoamylase ISO SMPDB SMP:00557 NCBI chr 4:69,018,592...69,114,027
Ensembl chr 4:68,849,033...68,996,961
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00557 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO SMPDB SMP:00557 NCBI chr 1:165,237,847...165,286,980
Ensembl chr 1:165,237,847...165,286,980
JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00557 NCBI chr 6:92,597,759...92,643,734
Ensembl chr 6:92,597,706...92,643,847
JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00557 NCBI chr 2:170,220,794...170,301,348
Ensembl chr 2:170,221,245...170,301,348
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00557 NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00557 NCBI chr14:106,208,174...106,249,322
Ensembl chr14:106,208,176...106,248,539
JBrowse link
cystathioninuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO SMPDB SMP:00514 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00514 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
cystinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO SMPDB SMP:00723 NCBI chr 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360
JBrowse link
G Aqp2 aquaporin 2 ISO SMPDB SMP:00723 NCBI chr 7:141,237,802...141,242,837
Ensembl chr 7:141,237,768...141,245,165
JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO SMPDB SMP:00723 NCBI chr 5:57,423,735...57,429,252
Ensembl chr 5:57,423,734...57,429,245
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00723 NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO SMPDB SMP:00723 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00723 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 ISO SMPDB SMP:00723 NCBI chr13:90,605,792...90,642,032
Ensembl chr13:90,605,794...90,641,772
JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00723 NCBI chr13:82,737,161...82,757,681
Ensembl chr13:82,737,159...82,758,004
JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00723 NCBI chr10:56,205,622...56,211,879
Ensembl chr10:56,205,625...56,211,891
JBrowse link
G Atp1b3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00723 NCBI chr 8:104,190,032...104,221,342
Ensembl chr 8:104,190,032...104,221,342
JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00723 NCBI chr  X:124,631,544...124,652,520
Ensembl chr  X:124,631,881...124,652,975
JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO SMPDB SMP:00723 NCBI chr 5:159,931,497...159,946,483
Ensembl chr 5:159,931,511...159,946,446
JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO SMPDB SMP:00723 NCBI chr 8:49,710,334...49,717,492
Ensembl chr 8:49,710,477...49,716,955
JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO SMPDB SMP:00723 NCBI chr19:34,408,275...34,761,003
Ensembl chr19:34,448,289...34,752,695
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00723 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00723 NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00723 NCBI chr 1:191,704,397...191,738,271
Ensembl chr 1:191,704,311...191,738,268
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO SMPDB SMP:00723 NCBI chr 3:117,421,531...117,498,372
Ensembl chr 3:117,421,604...117,498,367
JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO SMPDB SMP:00723 NCBI chr19:11,106,033...11,144,674
Ensembl chr19:11,106,033...11,144,641
JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO SMPDB SMP:00723 NCBI chr 3:103,752,213...103,852,686
Ensembl chr 3:103,753,238...103,852,686
JBrowse link
G Slc14a2 solute carrier family 14 member 2 ISO SMPDB SMP:00723 NCBI chr18:74,508,070...74,941,389
Ensembl chr18:74,546,220...74,688,551
Ensembl chr18:74,546,220...74,688,551
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO SMPDB SMP:00723 NCBI chr 1:246,955,017...247,035,159
Ensembl chr 1:246,954,980...247,037,056
JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO SMPDB SMP:00723 NCBI chr 1:48,318,025...48,360,219
Ensembl chr 1:48,317,995...48,360,261
JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO SMPDB SMP:00723 NCBI chr 1:224,824,809...224,833,284
Ensembl chr 1:224,824,799...224,833,259
JBrowse link
G Slc38a4 solute carrier family 38, member 4 ISO SMPDB SMP:00723 NCBI chr 7:138,459,576...138,512,952
Ensembl chr 7:138,459,504...138,512,952
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO SMPDB SMP:00723 NCBI chr 6:8,284,937...8,318,649
Ensembl chr 6:8,284,878...8,318,674
JBrowse link
G Slc3a2 solute carrier family 3 member 2 ISO SMPDB SMP:00723 NCBI chr 1:224,906,566...224,921,029
Ensembl chr 1:224,906,554...224,921,092
JBrowse link
G Slc6a20 solute carrier family 6 member 20 ISO SMPDB SMP:00723 NCBI chr 8:132,713,013...132,753,145
Ensembl chr 8:132,665,927...132,753,292
JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO SMPDB SMP:00723 NCBI chr19:54,693,959...54,722,563
Ensembl chr19:54,693,959...54,722,563
JBrowse link
G Slc7a6 solute carrier family 7 member 6 ISO SMPDB SMP:00723 NCBI chr19:38,152,225...38,179,149
Ensembl chr19:38,162,515...38,179,149
JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO SMPDB SMP:00723 NCBI chr15:33,013,346...33,059,733
Ensembl chr15:33,013,504...33,051,129
JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO SMPDB SMP:00723 NCBI chr15:33,369,245...33,428,942
Ensembl chr15:33,369,216...33,428,973
JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO SMPDB SMP:00723 NCBI chr 1:91,709,034...91,738,492
Ensembl chr 1:91,716,383...91,738,494
JBrowse link
D-glycericacidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO SMPDB SMP:00529 NCBI chr20:4,369,399...4,378,272
Ensembl chr20:4,369,178...4,378,269
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00529 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00529 NCBI chr10:47,490,168...47,499,855
Ensembl chr10:47,490,153...47,499,876
JBrowse link
G Dgka diacylglycerol kinase, alpha ISO SMPDB SMP:00529 NCBI chr 7:3,143,826...3,170,764
Ensembl chr 7:3,143,827...3,170,146
JBrowse link
G Gk glycerol kinase ISO SMPDB SMP:00529 NCBI chr  X:54,227,291...54,303,897
Ensembl chr  X:54,227,397...54,303,864
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00529 NCBI chr 8:114,846,210...114,853,374
Ensembl chr 8:114,848,084...114,853,103
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00529 NCBI chr 1:275,843,823...275,906,880
Ensembl chr 1:275,846,819...275,906,686
JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00529 NCBI chr 7:141,368,928...141,377,931
Ensembl chr 7:141,370,491...141,377,928
JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00529 NCBI chr 3:43,223,892...43,359,069
Ensembl chr 3:43,255,567...43,359,074
JBrowse link
G Lipc lipase C, hepatic type ISO SMPDB SMP:00529 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00529 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00529 NCBI chr 2:44,664,076...44,726,820
Ensembl chr 2:44,664,124...44,726,689
JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00529 NCBI chr 7:13,062,168...13,070,281
Ensembl chr 7:13,062,196...13,070,280
JBrowse link
desmosterolosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00386 NCBI chr 1:47,972,399...47,992,654
Ensembl chr 1:47,972,399...47,992,653
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00386 NCBI chr 4:27,175,564...27,194,018
Ensembl chr 4:27,175,243...27,194,018
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00386 NCBI chr 5:126,164,708...126,188,926
Ensembl chr 5:126,164,674...126,191,206
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00386 NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00386 NCBI chr15:46,339,248...46,367,302
Ensembl chr15:46,339,249...46,367,302
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00386 NCBI chr 2:188,403,595...188,413,219
Ensembl chr 2:188,392,858...188,413,219
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00386 NCBI chr17:53,956,185...53,971,039
Ensembl chr17:53,956,203...53,971,443
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00386 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00386 NCBI chr 2:52,427,351...52,445,082
Ensembl chr 2:52,431,601...52,445,055
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00386 NCBI chr13:88,288,116...88,308,019
Ensembl chr13:88,288,046...88,307,988
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00386 NCBI chr17:57,976,266...57,984,036
Ensembl chr17:57,976,268...57,984,036
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00386 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00386 NCBI chr20:12,844,522...12,870,474
Ensembl chr20:12,842,884...12,870,497
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00386 NCBI chr16:26,859,441...26,875,880
Ensembl chr16:26,859,397...26,875,973
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00386 NCBI chr19:55,258,910...55,268,933
Ensembl chr19:55,258,905...55,268,951
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00386 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00386 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00386 NCBI chr 2:188,784,329...188,793,890
Ensembl chr 2:188,784,222...188,793,895
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00386 NCBI chr 8:46,525,406...46,537,014
Ensembl chr 8:46,525,400...46,537,050
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00386 NCBI chr13:74,035,258...74,077,759
Ensembl chr13:74,035,080...74,077,783
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00386 NCBI chr 7:99,609,929...99,624,803
Ensembl chr 7:99,609,191...99,624,732
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00386 NCBI chr 1:221,426,017...221,430,340
Ensembl chr 1:221,425,987...221,431,713
JBrowse link
diabetes mellitus pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 IDA RGD PMID:18025464 RGD:2301904 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Sod3 superoxide dismutase 3 ISO RGD PMID:12830380 RGD:1581299 NCBI chr14:60,958,583...60,971,143
Ensembl chr14:60,958,592...60,964,324
JBrowse link
diabetic nephropathy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1b1 aldo-keto reductase family 1 member B ISS RGD PMID:9215310 RGD:734542 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Spp1 secreted phosphoprotein 1 IDA RGD PMID:16528250 RGD:1581322 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
dihydropyrimidinase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak3 adenylate kinase 3 ISO SMPDB SMP:00178 NCBI chr 1:247,144,486...247,169,690
Ensembl chr 1:247,144,491...247,169,693
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00178 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00178 NCBI chr10:107,432,500...107,445,634
Ensembl chr10:107,432,506...107,445,522
JBrowse link
G Cda cytidine deaminase ISO SMPDB SMP:00178 NCBI chr 5:156,703,579...156,734,541
Ensembl chr 5:156,703,579...156,734,541
JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00178 NCBI chr 6:45,683,242...45,694,824
Ensembl chr 6:45,683,234...45,694,822
JBrowse link
G Ctps1 CTP synthase 1 ISO SMPDB SMP:00178 NCBI chr 5:139,475,934...139,505,065
Ensembl chr 5:139,475,934...139,505,065
JBrowse link
G Dctd dCMP deaminase ISO SMPDB SMP:00178 NCBI chr16:47,177,144...47,222,850
Ensembl chr16:47,177,145...47,208,110
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00178 NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00178 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00178 NCBI chr 7:78,769,918...78,847,941
Ensembl chr 7:78,769,807...78,847,974
JBrowse link
G Dut deoxyuridine triphosphatase ISO SMPDB SMP:00178 NCBI chr 3:117,514,399...117,525,450
Ensembl chr 3:117,514,444...117,525,446
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00178 NCBI chr 1:238,982,542...239,057,663
Ensembl chr 1:238,982,392...239,057,732
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00178 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00178 NCBI chr 8:117,920,912...117,928,148
Ensembl chr 8:117,920,944...117,928,195
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00178 NCBI chr 1:266,652,966...266,782,935
Ensembl chr 1:266,659,519...266,782,910
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00178 NCBI chr 6:43,884,627...43,890,818
Ensembl chr 6:43,884,678...43,889,515
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00178 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
JBrowse link
G Tk1 thymidine kinase 1 ISO SMPDB SMP:00178 NCBI chr10:106,817,556...106,828,888
Ensembl chr10:106,817,601...106,828,884
JBrowse link
G Tymp thymidine phosphorylase ISO SMPDB SMP:00178 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
G Tyms thymidylate synthetase ISO SMPDB SMP:00178 NCBI chr 9:121,918,875...121,931,564
Ensembl chr 9:121,918,947...121,931,564
JBrowse link
G Uckl1 uridine-cytidine kinase 1-like 1 ISO SMPDB SMP:00178 NCBI chr 3:177,066,022...177,078,611
Ensembl chr 3:177,066,014...177,078,594
JBrowse link
G Umps uridine monophosphate synthetase ISO SMPDB SMP:00178 NCBI chr11:70,034,181...70,044,590
Ensembl chr11:70,034,139...70,044,628
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00178 NCBI chr20:14,167,383...14,193,724
Ensembl chr20:14,167,586...14,193,690
JBrowse link
G Upp2 uridine phosphorylase 2 ISO SMPDB SMP:00178 NCBI chr 3:44,806,106...44,846,464
Ensembl chr 3:44,806,106...44,846,464
JBrowse link
dihydropyrimidine dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO SMPDB SMP:00179 NCBI chr 9:100,281,339...100,291,292
Ensembl chr 9:100,281,339...100,291,291
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00179 NCBI chr 8:114,927,704...114,941,038
Ensembl chr 8:114,927,722...114,940,177
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00179 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00179 NCBI chr 8:117,068,388...117,078,633
Ensembl chr 8:117,068,582...117,077,913
JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00179 NCBI chr 2:23,236,573...23,256,158
Ensembl chr 2:23,236,575...23,256,158
JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00179 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00179 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00179 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00179 NCBI chr 2:23,289,376...23,370,360
Ensembl chr 2:23,289,374...23,370,477
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00179 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
JBrowse link
G Gars glycyl-tRNA synthetase ISO SMPDB SMP:00179 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00179 NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
JBrowse link
G Gcat glycine C-acetyltransferase ISO SMPDB SMP:00179 NCBI chr 7:120,263,068...120,269,365
Ensembl chr 7:120,263,054...120,269,451
JBrowse link
G Gldc glycine decarboxylase ISO SMPDB SMP:00179 NCBI chr 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00179 NCBI chr 8:114,846,210...114,853,374
Ensembl chr 8:114,848,084...114,853,103
JBrowse link
G Gnmt glycine N-methyltransferase ISO SMPDB SMP:00179 NCBI chr 9:16,565,274...16,568,626
Ensembl chr 9:16,565,225...16,568,627
JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00179 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO SMPDB SMP:00179 NCBI chr 2:200,484,245...200,513,564
Ensembl chr 2:200,484,246...200,513,564
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00179 NCBI chr 1:233,124,089...233,145,941
Ensembl chr 1:233,124,092...233,145,941
JBrowse link
G Psph phosphoserine phosphatase ISO SMPDB SMP:00179 NCBI chr12:30,514,128...30,526,551
Ensembl chr12:30,514,112...30,526,557
JBrowse link
G Sardh sarcosine dehydrogenase ISO SMPDB SMP:00179 NCBI chr 3:5,737,203...5,802,153
Ensembl chr 3:5,737,200...5,802,129
JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00179 NCBI chr 2:211,219,743...211,235,475
Ensembl chr 2:211,219,750...211,235,467
JBrowse link
G Sds serine dehydratase ISO SMPDB SMP:00179 NCBI chr12:41,620,429...41,627,741
Ensembl chr12:41,620,393...41,627,741
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00179 NCBI chr10:47,030,813...47,059,216
Ensembl chr10:47,031,050...47,059,216
JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00179 NCBI chr 7:70,824,718...70,829,822
Ensembl chr 7:70,824,715...70,829,815
JBrowse link
G Srr serine racemase ISO SMPDB SMP:00179 NCBI chr10:61,756,138...61,772,327
Ensembl chr10:61,756,138...61,772,293
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 chr 9:100,281,339...100,291,292
Ensembl chr 9:100,281,339...100,291,291
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00242, SMP:00484 NCBI chr 8:114,927,704...114,941,038
Ensembl chr 8:114,927,722...114,940,177
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00242, SMP:00484 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00242, SMP:00484 NCBI chr 8:117,068,388...117,078,633
Ensembl chr 8:117,068,582...117,077,913
JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00242, SMP:00484 NCBI chr 2:23,236,573...23,256,158
Ensembl chr 2:23,236,575...23,256,158
JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00242, SMP:00484 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00242, SMP:00484 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00242, SMP:00484 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00242, SMP:00484 NCBI chr 2:23,289,376...23,370,360
Ensembl chr 2:23,289,374...23,370,477
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00242, SMP:00484 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
JBrowse link
G Gars glycyl-tRNA synthetase ISO SMPDB SMP:00242, SMP:00484 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00242, SMP:00484 NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
JBrowse link
G Gcat glycine C-acetyltransferase ISO SMPDB SMP:00242, SMP:00484 NCBI chr 7:120,263,068...120,269,365
Ensembl chr 7:120,263,054...120,269,451
JBrowse link
G Gldc glycine decarboxylase ISO SMPDB