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Pathways
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PATHWAY ONTOLOGY - ANNOTATIONS

The Pathway Ontology (PW), is currently being developed at the Rat Genome Database. For more information about this vocabulary, please see Petri et al. The rat genome database pathway portal. Database (Oxford). 2011 Apr 8;2011:bar010. Print 2011 or contact us (http://rgd.mcw.edu/contact/index.shtml).
Term:inborn error of brain metabolic pathway
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Accession:PW:0001646 term browser browse the term
Definition:Those brain diseases that are caused by inborn metabolic errors. The mutations can disrupt one or several pathways.
Synonyms:exact_synonym: inborn error of brain metabolic disease pathway

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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-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
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
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 transcarbamylase 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
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 transcarbamylase 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
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
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 transcarbamylase 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
ethylmalonic encephalopathy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00181 NCBI 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:00181 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:00181 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:00181 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:00181 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:00181 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:00181 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:00181 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:00181 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:00181 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:00181 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:00181 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:00181 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:00181 NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995 		JBrowse link
Fabry disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00525 NCBI chr 9:10,061,978...10,093,588
Ensembl chr 9:10,061,978...10,093,588 		JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00525 NCBI chr 1:163,160,987...163,263,621
Ensembl chr 1:163,160,979...163,263,606 		JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00525 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283 		JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00525 NCBI chr18:15,462,913...15,525,584
Ensembl chr18:15,462,913...15,525,579 		JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00525 NCBI chr 7:127,015,162...127,058,056
Ensembl chr 7:127,015,162...127,058,056 		JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00525 NCBI chr 6:132,591,968...132,608,600
Ensembl chr 6:132,591,969...132,608,600 		JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00525 NCBI chr10:108,095,131...108,099,483
Ensembl chr10:108,095,131...108,099,483 		JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00525 NCBI chr14:84,231,473...84,247,371
Ensembl chr14:84,231,639...84,247,369 		JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00525 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614 		JBrowse link
G Gba glucosylceramidase beta ISO SMPDB SMP:00525 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601 		JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00525 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323 		JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00525 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00525 NCBI chr13:26,779,386...26,812,271
Ensembl chr13:26,780,633...26,812,215 		JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00525 NCBI chr 1:164,803,574...164,814,777
Ensembl chr 1:164,803,574...164,814,651 		JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00525 NCBI chr 2:44,664,076...44,726,820
Ensembl chr 2:44,664,124...44,726,689 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00525 NCBI chr 1:250,692,448...250,951,685
Ensembl chr 1:250,691,370...250,951,697 		JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00525 NCBI chr20:30,699,936...30,769,178
Ensembl chr20:30,699,872...30,749,940 		JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00525 NCBI chr 9:84,203,094...84,321,269
Ensembl chr 9:84,203,072...84,319,874 		JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00525 NCBI chr 1:101,692,972...101,700,604
Ensembl chr 1:101,692,973...101,697,277 		JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00525 NCBI chr17:11,856,525...11,895,566
Ensembl chr17:11,856,525...11,895,566 		JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00525 NCBI chr 6:111,334,408...111,417,960
Ensembl chr 6:111,339,136...111,417,954 		JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00525 NCBI chr 5:76,376,722...76,419,564
Ensembl chr 5:76,386,836...76,419,560 		JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00525 NCBI chr 2:229,644,373...229,718,678
Ensembl chr 2:229,644,382...229,718,659 		JBrowse link
french type sialuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amdhd2 amidohydrolase domain containing 2 ISO SMPDB SMP:00216 SMP:00217 NCBI chr10:13,528,400...13,536,949
Ensembl chr10:13,528,413...13,536,899 		JBrowse link
G Chit1 chitinase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr13:50,947,020...50,994,644
Ensembl chr13:50,974,872...50,994,643 		JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 4:176,994,129...177,012,445
Ensembl chr 4:176,994,129...177,012,444 		JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416 		JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr18:31,479,117...31,489,154
Ensembl chr18:31,479,117...31,487,671 		JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr15:19,721,292...19,734,032
Ensembl chr15:19,721,293...19,733,967 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00216 SMP:00217 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773 		JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649 		JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 4:115,473,848...115,485,027
Ensembl chr 4:115,473,811...115,481,438 		JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 3:146,800,018...146,812,988
Ensembl chr 3:146,800,019...146,812,989 		JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 5:62,109,352...62,126,492
Ensembl chr 5:62,109,328...62,126,494 		JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00216 SMP:00217 NCBI chr13:70,938,073...70,981,179
Ensembl chr13:70,938,082...70,980,913 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00216 SMP:00217 NCBI chr 8:94,225,513...94,243,230
Ensembl chr 8:94,225,515...94,243,215 		JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00216 SMP:00217 NCBI chr  X:156,854,490...156,863,548
Ensembl chr  X:156,854,594...156,863,528 		JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO SMPDB SMP:00216 SMP:00217 NCBI chr 8:85,891,245...85,926,466
Ensembl chr 8:85,891,257...85,926,450 		JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr13:88,463,532...88,497,901
Ensembl chr13:88,463,532...88,497,901 		JBrowse link
galactokinase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gale UDP-galactose-4-epimerase ISO SMPDB SMP:00495 NCBI chr 5:154,310,453...154,314,959
Ensembl chr 5:154,310,453...154,314,955 		JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00495 NCBI chr10:104,560,322...104,564,499
Ensembl chr10:104,560,303...104,564,480 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00495 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929 		JBrowse link
G Gck glucokinase ISO SMPDB SMP:00495 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00495 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055 		JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00495 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:00495 NCBI chr14:106,208,174...106,249,322
Ensembl chr14:106,208,176...106,248,539 		JBrowse link
G Uxs1 UDP-glucuronate decarboxylase 1 ISO SMPDB SMP:00495 NCBI chr 9:11,165,006...11,240,329
Ensembl chr 9:11,164,715...11,339,790 		JBrowse link
galactosemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1b1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00182 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO SMPDB SMP:00182 NCBI chr 5:57,121,768...57,168,610
Ensembl chr 5:57,121,769...57,168,610 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00182 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213 		JBrowse link
G Gaa alpha glucosidase ISO SMPDB SMP:00182 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059 		JBrowse link
G Gale UDP-galactose-4-epimerase ISO SMPDB SMP:00182 NCBI chr 5:154,310,453...154,314,959
Ensembl chr 5:154,310,453...154,314,955 		JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00182 NCBI chr10:104,560,322...104,564,499
Ensembl chr10:104,560,303...104,564,480 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00182 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929 		JBrowse link
G Gck glucokinase ISO SMPDB SMP:00182 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659 		JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00182 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323 		JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00182 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939 		JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00182 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649 		JBrowse link
G Lct lactase ISO SMPDB SMP:00182 NCBI chr13:44,998,414...45,040,593
Ensembl chr13:44,998,414...45,040,593 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00182 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00182 NCBI chr14:106,208,174...106,249,322
Ensembl chr14:106,208,176...106,248,539 		JBrowse link
GALE deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gale UDP-galactose-4-epimerase ISO SMPDB SMP:00496 NCBI chr 5:154,310,453...154,314,959
Ensembl chr 5:154,310,453...154,314,955 		JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00496 NCBI chr10:104,560,322...104,564,499
Ensembl chr10:104,560,303...104,564,480 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00496 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929 		JBrowse link
G Gck glucokinase ISO SMPDB SMP:00496 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00496 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055 		JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00496 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:00496 NCBI chr14:106,208,174...106,249,322
Ensembl chr14:106,208,176...106,248,539 		JBrowse link
G Uxs1 UDP-glucuronate decarboxylase 1 ISO SMPDB SMP:00496 NCBI chr 9:11,165,006...11,240,329
Ensembl chr 9:11,164,715...11,339,790 		JBrowse link
Gaucher's disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00349 NCBI chr 9:10,061,978...10,093,588
Ensembl chr 9:10,061,978...10,093,588 		JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00349 NCBI chr 1:163,160,987...163,263,621
Ensembl chr 1:163,160,979...163,263,606 		JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00349 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283 		JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00349 NCBI chr18:15,462,913...15,525,584
Ensembl chr18:15,462,913...15,525,579 		JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00349 NCBI chr 7:127,015,162...127,058,056
Ensembl chr 7:127,015,162...127,058,056 		JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00349 NCBI chr 6:132,591,968...132,608,600
Ensembl chr 6:132,591,969...132,608,600 		JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00349 NCBI chr10:108,095,131...108,099,483
Ensembl chr10:108,095,131...108,099,483 		JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00349 NCBI chr14:84,231,473...84,247,371
Ensembl chr14:84,231,639...84,247,369 		JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00349 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614 		JBrowse link
G Gba glucosylceramidase beta ISO SMPDB SMP:00349 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601 		JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00349 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323 		JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00349 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00349 NCBI chr13:26,779,386...26,812,271
Ensembl chr13:26,780,633...26,812,215 		JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00349 NCBI chr 1:164,803,574...164,814,777
Ensembl chr 1:164,803,574...164,814,651 		JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00349 NCBI chr 2:44,664,076...44,726,820
Ensembl chr 2:44,664,124...44,726,689 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00349 NCBI chr 1:250,692,448...250,951,685
Ensembl chr 1:250,691,370...250,951,697 		JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00349 NCBI chr20:30,699,936...30,769,178
Ensembl chr20:30,699,872...30,749,940 		JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00349 NCBI chr 9:84,203,094...84,321,269
Ensembl chr 9:84,203,072...84,319,874 		JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00349 NCBI chr 1:101,692,972...101,700,604
Ensembl chr 1:101,692,973...101,697,277 		JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00349 NCBI chr17:11,856,525...11,895,566
Ensembl chr17:11,856,525...11,895,566 		JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00349 NCBI chr 6:111,334,408...111,417,960
Ensembl chr 6:111,339,136...111,417,954 		JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00349 NCBI chr 5:76,376,722...76,419,564
Ensembl chr 5:76,386,836...76,419,560 		JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00349 NCBI chr 2:229,644,373...229,718,678
Ensembl chr 2:229,644,382...229,718,659 		JBrowse link
Hartnup disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO SMPDB SMP:00189 NCBI 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 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:00189 NCBI chr 1:91,709,034...91,738,492
Ensembl chr 1:91,716,383...91,738,494 		JBrowse link
homocarnosinosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00385 NCBI 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 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:00385 NCBI chr 8:117,297,670...117,305,708
Ensembl chr 8:117,297,670...117,305,702 		JBrowse link
hyperargininemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00357 NCBI chr 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:00357 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:00357 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:00357 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:00357 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:00357 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:00357 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:00357 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00357 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:00357 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:00357 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:00357 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:00357 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529 		JBrowse link
hyperlysinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadat aminoadipate aminotransferase ISO SMPDB SMP:00527 NCBI 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:00527 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:00527 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:00527 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:00527 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:00527 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:00527 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:00527 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:00527 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:00527 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:00527 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:00527 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:00527 NCBI chr16:54,459,409...54,513,349
Ensembl chr16:54,460,067...54,513,349 		JBrowse link
Krabbe disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00348 NCBI chr 9:10,061,978...10,093,588
Ensembl chr 9:10,061,978...10,093,588 		JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00348 NCBI chr 1:163,160,987...163,263,621
Ensembl chr 1:163,160,979...163,263,606 		JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00348 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283 		JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00348 NCBI chr18:15,462,913...15,525,584
Ensembl chr18:15,462,913...15,525,579 		JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00348 NCBI chr 7:127,015,162...127,058,056
Ensembl chr 7:127,015,162...127,058,056 		JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00348 NCBI chr 6:132,591,968...132,608,600
Ensembl chr 6:132,591,969...132,608,600 		JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00348 NCBI chr10:108,095,131...108,099,483
Ensembl chr10:108,095,131...108,099,483 		JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00348 NCBI chr14:84,231,473...84,247,371
Ensembl chr14:84,231,639...84,247,369 		JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00348 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614 		JBrowse link
G Gba glucosylceramidase beta ISO SMPDB SMP:00348 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601 		JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00348 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323 		JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00348 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00348 NCBI chr13:26,779,386...26,812,271
Ensembl chr13:26,780,633...26,812,215 		JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00348 NCBI chr 1:164,803,574...164,814,777
Ensembl chr 1:164,803,574...164,814,651 		JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00348 NCBI chr 2:44,664,076...44,726,820
Ensembl chr 2:44,664,124...44,726,689 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00348 NCBI chr 1:250,692,448...250,951,685
Ensembl chr 1:250,691,370...250,951,697 		JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00348 NCBI chr20:30,699,936...30,769,178
Ensembl chr20:30,699,872...30,749,940 		JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00348 NCBI chr 9:84,203,094...84,321,269
Ensembl chr 9:84,203,072...84,319,874 		JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00348 NCBI chr 1:101,692,972...101,700,604
Ensembl chr 1:101,692,973...101,697,277 		JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00348 NCBI chr17:11,856,525...11,895,566
Ensembl chr17:11,856,525...11,895,566 		JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00348 NCBI chr 6:111,334,408...111,417,960
Ensembl chr 6:111,339,136...111,417,954 		JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00348 NCBI chr 5:76,376,722...76,419,564
Ensembl chr 5:76,386,836...76,419,560 		JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00348 NCBI chr 2:229,644,373...229,718,678
Ensembl chr 2:229,644,382...229,718,659 		JBrowse link
Leigh disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaca acetyl-CoA carboxylase alpha ISO SMPDB SMP:00196 NCBI chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00196 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884 		JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00196 NCBI chr 2:20,857,056...20,901,656
Ensembl chr 2:20,857,202...20,901,659 		JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO SMPDB SMP:00196 NCBI chr 3:151,032,925...151,075,856
Ensembl chr 3:151,032,952...151,075,856 		JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00196 NCBI chr 6:109,097,065...109,110,266
Ensembl chr 6:109,097,065...109,104,050 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00196 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00196 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00196 NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00196 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694 		JBrowse link
G Glo1 glyoxalase 1 ISO SMPDB SMP:00196 NCBI chr20:9,273,589...9,291,608
Ensembl chr20:9,273,594...9,291,610 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00196 NCBI chr 5:60,528,981...60,538,410
Ensembl chr 5:60,528,997...60,538,375 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO SMPDB SMP:00196 NCBI chr10:14,215,913...14,230,506
Ensembl chr10:14,216,155...14,230,515 		JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00196 NCBI chr19:43,826,989...43,848,937
Ensembl chr19:43,826,993...43,848,937 		JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00196 NCBI chr14:106,378,349...106,393,642
Ensembl chr14:106,378,942...106,393,670 		JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00196 NCBI chr 8:94,256,830...94,368,834
Ensembl chr 8:94,256,839...94,368,834 		JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00196 NCBI chr18:69,737,515...69,784,099
Ensembl chr18:69,738,686...69,784,099 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00196 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00196 NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00196 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00196 NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854 		JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00196 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592 		JBrowse link
Lesch-Nyhan syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00364 NCBI 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:00364 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:00364 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:00364 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:00364 NCBI chr 3:11,652,143...11,659,135 JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 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:00364 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494 		JBrowse link
maple syrup urine disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00199 NCBI 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 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:00199 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872 		JBrowse link
metachromatic leukodystrophy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00347 NCBI chr 9:10,061,978...10,093,588
Ensembl chr 9:10,061,978...10,093,588 		JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00347 NCBI chr 1:163,160,987...163,263,621
Ensembl chr 1:163,160,979...163,263,606 		JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00347 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283 		JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00347 NCBI chr18:15,462,913...15,525,584
Ensembl chr18:15,462,913...15,525,579 		JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00347 NCBI chr 7:127,015,162...127,058,056
Ensembl chr 7:127,015,162...127,058,056 		JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00347 NCBI chr 6:132,591,968...132,608,600
Ensembl chr 6:132,591,969...132,608,600 		JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00347 NCBI chr10:108,095,131...108,099,483
Ensembl chr10:108,095,131...108,099,483 		JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00347 NCBI chr14:84,231,473...84,247,371
Ensembl chr14:84,231,639...84,247,369 		JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00347 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614 		JBrowse link
G Gba glucosylceramidase beta ISO SMPDB SMP:00347 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601 		JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00347 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323 		JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00347 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00347 NCBI chr13:26,779,386...26,812,271
Ensembl chr13:26,780,633...26,812,215 		JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00347 NCBI chr 1:164,803,574...164,814,777
Ensembl chr 1:164,803,574...164,814,651 		JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00347 NCBI chr 2:44,664,076...44,726,820
Ensembl chr 2:44,664,124...44,726,689 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00347 NCBI chr 1:250,692,448...250,951,685
Ensembl chr 1:250,691,370...250,951,697 		JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00347 NCBI chr20:30,699,936...30,769,178
Ensembl chr20:30,699,872...30,749,940 		JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00347 NCBI chr 9:84,203,094...84,321,269
Ensembl chr 9:84,203,072...84,319,874 		JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00347 NCBI chr 1:101,692,972...101,700,604
Ensembl chr 1:101,692,973...101,697,277 		JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00347 NCBI chr17:11,856,525...11,895,566
Ensembl chr17:11,856,525...11,895,566 		JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00347 NCBI chr 6:111,334,408...111,417,960
Ensembl chr 6:111,339,136...111,417,954 		JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00347 NCBI chr 5:76,376,722...76,419,564
Ensembl chr 5:76,386,836...76,419,560 		JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00347 NCBI chr 2:229,644,373...229,718,678
Ensembl chr 2:229,644,382...229,718,659 		JBrowse link
mevalonic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00509 SMP:00510 NCBI chr 1:47,972,399...47,992,654
Ensembl chr 1:47,972,399...47,992,653 		JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 NCBI chr 1:221,426,017...221,430,340
Ensembl chr 1:221,425,987...221,431,713 		JBrowse link
nonketotic hyperglycinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO SMPDB SMP:00223 SMP:00485 NCBI 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:00223 SMP:00485 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:00223 SMP:00485 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752 		JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 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:00223 SMP:00485 NCBI chr10:61,756,138...61,772,327
Ensembl chr10:61,756,138...61,772,293 		JBrowse link
ornithine translocase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00506 NCBI chr 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:00506 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:00506 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:00506 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:00506 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:00506 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:00506 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:00506 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:00506 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:00506 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:00506 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:00506 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:00506 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:00506 NCBI chr 1:204,562,289...204,582,070
Ensembl chr 1:204,562,289...204,582,070 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00506 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:00506 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:00506 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:00506 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:00506 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:00506 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529 		JBrowse link
phenylketonuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00206 NCBI chr 1:146,713,663...146,736,339
Ensembl chr 1:146,713,676...146,736,261 		JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00206 NCBI chr19:25,969,255...25,978,777
Ensembl chr19:25,969,255...25,978,776 		JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00206 NCBI chr 9:84,324,456...84,383,674
Ensembl chr 9:84,324,442...84,383,687 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00206 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:00206 NCBI chr 6:111,176,798...111,187,246
Ensembl chr 6:111,176,798...111,187,244 		JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00206 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:00206 NCBI chr12:38,828,606...38,839,956
Ensembl chr12:38,828,444...38,839,969 		JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00206 NCBI chr 1:100,811,727...100,836,901
Ensembl chr 1:100,830,064...100,836,677 		JBrowse link
G Pah phenylalanine hydroxylase ISO SMPDB SMP:00206 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769 		JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00206 NCBI chr19:41,675,639...41,686,195
Ensembl chr19:41,675,355...41,686,229 		JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00206 NCBI chr 5:147,375,350...147,403,578
Ensembl chr 5:147,375,350...147,403,571 		JBrowse link
Refsum disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO SMPDB SMP:00451 NCBI chr  X: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:00451 NCBI chr 7:132,294,564...132,343,169
Ensembl chr 7:132,294,562...132,343,169 		JBrowse link
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 ISO SMPDB SMP:00451 NCBI chr10:47,525,486...47,546,535
Ensembl chr10:47,525,493...47,546,345 		JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO SMPDB SMP:00451 NCBI chr16:7,720,047...7,758,119
Ensembl chr16:7,714,465...7,758,189 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO SMPDB SMP:00451 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530 		JBrowse link
G Slc27a2 solute carrier family 27 member 2 ISO SMPDB SMP:00451 NCBI chr 3:119,014,620...119,052,531
Ensembl chr 3:119,014,620...119,052,531 		JBrowse link
saccharopinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadat aminoadipate aminotransferase ISO SMPDB SMP:00239 SMP:00528 NCBI 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:00239 SMP:00528 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:00239 SMP:00528 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:00239 SMP:00528 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:00239 SMP:00528 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:00239 SMP:00528 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:00239 SMP:00528 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:00239 SMP:00528 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:00239 SMP:00528 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:00239 SMP:00528 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:00239 SMP:00528 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:00239 SMP:00528 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:00239 SMP:00528 NCBI chr16:54,459,409...54,513,349
Ensembl chr16:54,460,067...54,513,349 		JBrowse link
sialic acid storage disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amdhd2 amidohydrolase domain containing 2 ISO SMPDB SMP:00240 NCBI chr10:13,528,400...13,536,949
Ensembl chr10:13,528,413...13,536,899 		JBrowse link
G Chit1 chitinase 1 ISO SMPDB SMP:00240 NCBI chr13:50,947,020...50,994,644
Ensembl chr13:50,974,872...50,994,643 		JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00240 NCBI chr 4:176,994,129...177,012,445
Ensembl chr 4:176,994,129...177,012,444 		JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00240 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00240 NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416 		JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00240 NCBI chr18:31,479,117...31,489,154
Ensembl chr18:31,479,117...31,487,671 		JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00240 NCBI chr15:19,721,292...19,734,032
Ensembl chr15:19,721,293...19,733,967 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00240 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773 		JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00240 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649 		JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00240 NCBI chr 4:115,473,848...115,485,027
Ensembl chr 4:115,473,811...115,481,438 		JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00240 NCBI chr 3:146,800,018...146,812,988
Ensembl chr 3:146,800,019...146,812,989 		JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00240 NCBI chr 5:62,109,352...62,126,492
Ensembl chr 5:62,109,328...62,126,494 		JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00240 NCBI chr13:70,938,073...70,981,179
Ensembl chr13:70,938,082...70,980,913 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00240 NCBI chr 8:94,225,513...94,243,230
Ensembl chr 8:94,225,515...94,243,215 		JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00240 NCBI chr  X:156,854,490...156,863,548
Ensembl chr  X:156,854,594...156,863,528 		JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO SMPDB SMP:00240 NCBI chr 8:85,891,245...85,926,466
Ensembl chr 8:85,891,257...85,926,450 		JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00240 NCBI chr13:88,463,532...88,497,901
Ensembl chr13:88,463,532...88,497,901 		JBrowse link
Tay-Sachs disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amdhd2 amidohydrolase domain containing 2 ISO SMPDB SMP:00390 NCBI chr10:13,528,400...13,536,949
Ensembl chr10:13,528,413...13,536,899 		JBrowse link
G Chit1 chitinase 1 ISO SMPDB SMP:00390 NCBI chr13:50,947,020...50,994,644
Ensembl chr13:50,974,872...50,994,643 		JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00390 NCBI chr 4:176,994,129...177,012,445
Ensembl chr 4:176,994,129...177,012,444 		JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00390 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00390 NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416 		JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00390 NCBI chr18:31,479,117...31,489,154
Ensembl chr18:31,479,117...31,487,671 		JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00390 NCBI chr15:19,721,292...19,734,032
Ensembl chr15:19,721,293...19,733,967 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00390 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773 		JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00390 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649 		JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00390 NCBI chr 4:115,473,848...115,485,027
Ensembl chr 4:115,473,811...115,481,438 		JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00390 NCBI chr 3:146,800,018...146,812,988
Ensembl chr 3:146,800,019...146,812,989 		JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00390 NCBI chr 5:62,109,352...62,126,492
Ensembl chr 5:62,109,328...62,126,494 		JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00390 NCBI chr13:70,938,073...70,981,179
Ensembl chr13:70,938,082...70,980,913 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00390 NCBI chr 8:94,225,513...94,243,230
Ensembl chr 8:94,225,515...94,243,215 		JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00390 NCBI chr  X:156,854,490...156,863,548
Ensembl chr  X:156,854,594...156,863,528 		JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO SMPDB SMP:00390 NCBI chr 8:85,891,245...85,926,466
Ensembl chr 8:85,891,257...85,926,450 		JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00390 NCBI chr13:88,463,532...88,497,901
Ensembl chr13:88,463,532...88,497,901 		JBrowse link
tyrosinemia type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00218 NCBI 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:00218 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:00218 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:00218 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:00218 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:00218 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:00218 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:00218 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:00218 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:00218 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:00218 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:00218 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:00218 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:00218 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:00218 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:00218 NCBI chr19:41,675,639...41,686,195
Ensembl chr19:41,675,355...41,686,229 		JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00218 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802 		JBrowse link
tyrosinemia type II pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00369 NCBI chr 1:146,713,663...146,736,339
Ensembl chr 1:146,713,676...146,736,261 		JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00369 NCBI chr19:25,969,255...25,978,777
Ensembl chr19:25,969,255...25,978,776 		JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00369 NCBI chr 9:84,324,456...84,383,674
Ensembl chr 9:84,324,442...84,383,687 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00369 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:00369 NCBI chr 6:111,176,798...111,187,246
Ensembl chr 6:111,176,798...111,187,244 		JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00369 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:00369 NCBI chr12:38,828,606...38,839,956
Ensembl chr12:38,828,444...38,839,969 		JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00369 NCBI chr 1:100,811,727...100,836,901
Ensembl chr 1:100,830,064...100,836,677 		JBrowse link
G Pah phenylalanine hydroxylase ISO SMPDB SMP:00369 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769 		JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00369 NCBI chr19:41,675,639...41,686,195
Ensembl chr19:41,675,355...41,686,229 		JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00369 NCBI chr 5:147,375,350...147,403,578
Ensembl chr 5:147,375,350...147,403,571 		JBrowse link
tyrosinemia type III pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO SMPDB SMP:00434 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515 		JBrowse link
G Abcc1 ATP binding cassette subfamily C member 1 ISO SMPDB SMP:00434 NCBI chr10:549,537...672,235
Ensembl chr10:549,883...672,196 		JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO SMPDB SMP:00434 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252 		JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISO SMPDB SMP:00434 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621 		JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00370 NCBI chr 1:146,713,663...146,736,339
Ensembl chr 1:146,713,676...146,736,261 		JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00370 NCBI chr19:25,969,255...25,978,777
Ensembl chr19:25,969,255...25,978,776 		JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00370 NCBI chr 9:84,324,456...84,383,674
Ensembl chr 9:84,324,442...84,383,687 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00370 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:00370 NCBI chr 6:111,176,798...111,187,246
Ensembl chr 6:111,176,798...111,187,244 		JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00370 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:00370 NCBI chr12:38,828,606...38,839,956
Ensembl chr12:38,828,444...38,839,969 		JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00370 NCBI chr 1:100,811,727...100,836,901
Ensembl chr 1:100,830,064...100,836,677 		JBrowse link
G Pah phenylalanine hydroxylase ISO SMPDB SMP:00370 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769 		JBrowse link
G Slco1b2 solute carrier organic anion transporter family member 1B2 ISO SMPDB SMP:00434 NCBI chr 4:175,814,118...175,881,775
Ensembl chr 4:175,814,118...175,881,768 		JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00370 NCBI chr19:41,675,639...41,686,195
Ensembl chr19:41,675,355...41,686,229 		JBrowse link
G Tuba1b tubulin, alpha 1B ISO SMPDB SMP:00434 NCBI chr 7:140,614,746...140,617,721
Ensembl chr 7:140,614,752...140,617,721 		JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO SMPDB SMP:00434 NCBI chr 3:172,550,252...172,558,089
Ensembl chr 3:172,550,258...172,558,114 		JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00370 NCBI chr 5:147,375,350...147,403,578
Ensembl chr 5:147,375,350...147,403,571 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6106
    disease pathway 1956
      nervous system disease pathway 761
        brain disease pathway 350
          inborn error of brain metabolic pathway 319
            2-hydroxyglutaric aciduria pathway 23
            Canavan disease pathway 14
            Hartnup disease pathway 33
            Leigh disease pathway 21
            Lesch-Nyhan syndrome pathway 37
            Refsum disease pathway 6
            adrenoleukodystrophy pathway 10
            carnosinemia pathway 9
            ethylmalonic encephalopathy pathway 14
            galactosemias pathway + 16
            hereditary central nervous system demyelinating disease pathway + 23
            homocarnosinosis pathway 23
            hyperlysinemia pathway + 13
            inborn error of urea cycle pathway + 56
            maple syrup urine disease pathway 30
            mevalonic aciduria pathway 22
            nervous system lysosomal storage disease pathway + 40
            nonketotic hyperglycinemia pathway 26
            phenylketonuria pathway 11
            tyrosinemia pathway + 29
Path 2
Term Annotations click to browse term
  pathway 6106
    disease pathway 1956
      nutritional and metabolic disease pathway 708
        metabolic disease pathway 666
          inborn error of metabolism pathway 529
            inborn error of brain metabolic pathway 319
              2-hydroxyglutaric aciduria pathway 23
              Canavan disease pathway 14
              Hartnup disease pathway 33
              Leigh disease pathway 21
              Lesch-Nyhan syndrome pathway 37
              Refsum disease pathway 6
              adrenoleukodystrophy pathway 10
              carnosinemia pathway 9
              ethylmalonic encephalopathy pathway 14
              galactosemias pathway + 16
              hereditary central nervous system demyelinating disease pathway + 23
              homocarnosinosis pathway 23
              hyperlysinemia pathway + 13
              inborn error of urea cycle pathway + 56
              maple syrup urine disease pathway 30
              mevalonic aciduria pathway 22
              nervous system lysosomal storage disease pathway + 40
              nonketotic hyperglycinemia pathway 26
              phenylketonuria pathway 11
              tyrosinemia pathway + 29
paths to the root