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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 purine-pyrimidine metabolism pathway
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Accession:PW:0001776 term browser browse the term
Definition:Those diseases that are caused by inborn errors of purine and/or pyrimidine metabolism. The mutations can disrupt one or several pathways.
Synonyms:exact_synonym: inborn error of purine-pyrimidine metabolism disease pathway



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adenosine monophosphate deaminase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00537 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00537 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00537 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00537 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00537 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00537 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00537 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00537 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00537 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00537 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00537 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00537 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00537 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00537 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00537 NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00537 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00537 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00537 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00537 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00537 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00537 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00537 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00537 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00537 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00537 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00537 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00537 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00537 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00537 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00537 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00537 NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00537 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00537 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291
JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00537 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00537 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773
JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00537 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00537 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
adenylosuccinate lyase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00167 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00167 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00167 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00167 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00167 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00167 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00167 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00167 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00167 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00167 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00167 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00167 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00167 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00167 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00167 NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00167 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00167 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00167 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00167 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00167 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00167 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00167 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00167 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00167 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00167 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00167 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00167 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00167 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00167 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00167 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00167 NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00167 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00167 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291
JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00167 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00167 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773
JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00167 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00167 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
dihydropyrimidinase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak3 adenylate kinase 3 ISO SMPDB SMP:00178 NCBI chr 1:226,737,472...226,764,647
Ensembl chr 1:226,739,318...226,764,625
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00178 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00178 NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109
JBrowse link
G Cda cytidine deaminase ISO SMPDB SMP:00178 NCBI chr 5:150,556,615...150,583,231
Ensembl chr 5:150,556,615...150,583,231
JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00178 NCBI chr 6:43,073,706...43,085,183
Ensembl chr 6:43,073,796...43,085,183
JBrowse link
G Ctps1 CTP synthase 1 ISO SMPDB SMP:00178 NCBI chr 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180
JBrowse link
G Dctd dCMP deaminase ISO SMPDB SMP:00178 NCBI chr16:44,066,952...44,098,654
Ensembl chr16:44,055,128...44,098,446
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00178 NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00178 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00178 NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231
JBrowse link
G Dut deoxyuridine triphosphatase ISO SMPDB SMP:00178 NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00178 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00178 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00178 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00178 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00178 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00178 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
JBrowse link
G Tk1 thymidine kinase 1 ISO SMPDB SMP:00178 NCBI chr10:103,034,755...103,046,125
Ensembl chr10:103,031,521...103,046,920
JBrowse link
G Tymp thymidine phosphorylase ISO SMPDB SMP:00178 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
G Tyms thymidylate synthetase ISO SMPDB SMP:00178 NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
JBrowse link
G Uckl1 uridine-cytidine kinase 1-like 1 ISO SMPDB SMP:00178 NCBI chr 3:168,674,849...168,687,513
Ensembl chr 3:168,674,849...168,698,091
JBrowse link
G Umps uridine monophosphate synthetase ISO SMPDB SMP:00178 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00178 NCBI chr20:13,217,252...13,243,590
Ensembl chr20:13,217,258...13,243,590
JBrowse link
G Upp2 uridine phosphorylase 2 ISO SMPDB SMP:00178 NCBI chr 3:43,273,048...43,317,417
Ensembl chr 3:43,273,048...43,317,417
JBrowse link
dihydropyrimidine dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate aminotransferase ISO SMPDB SMP:00179 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00179 NCBI chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00179 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00179 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00179 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742
JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00179 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00179 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00179 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00179 NCBI chr 2:24,912,600...24,987,533
Ensembl chr 2:24,912,578...24,987,528
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00179 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778
JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00179 NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00179 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
JBrowse link
G Gcat glycine C-acetyltransferase ISO SMPDB SMP:00179 NCBI chr 7:110,595,126...110,601,474
Ensembl chr 7:110,595,091...110,601,473
JBrowse link
G Gldc glycine decarboxylase ISO SMPDB SMP:00179 NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00179 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397
JBrowse link
G Gnmt glycine N-methyltransferase ISO SMPDB SMP:00179 NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434
JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00179 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO SMPDB SMP:00179 NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00179 NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
JBrowse link
G Psph phosphoserine phosphatase ISO SMPDB SMP:00179 NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074
JBrowse link
G Sardh sarcosine dehydrogenase ISO SMPDB SMP:00179 NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874
JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00179 NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277
JBrowse link
G Sds serine dehydratase ISO SMPDB SMP:00179 NCBI chr12:36,083,226...36,090,540
Ensembl chr12:36,083,229...36,088,203
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00179 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820
JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00179 NCBI chr 7:63,358,961...63,364,293
Ensembl chr 7:63,358,961...63,364,236
JBrowse link
G Srr serine racemase ISO SMPDB SMP:00179 NCBI chr10:59,769,563...59,786,688
Ensembl chr10:59,769,571...59,787,011
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 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00364 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00364 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00364 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00364 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00364 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00364 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00364 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00364 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00364 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00364 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00364 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00364 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00364 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00364 NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00364 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00364 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00364 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00364 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00364 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00364 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00364 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00364 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00364 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00364 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00364 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00364 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00364 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00364 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00364 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00364 NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00364 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00364 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291
JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00364 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00364 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773
JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00364 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00364 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
methylmalonate semialdehyde dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00384 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00384 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249
JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00384 NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00384 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00384 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00384 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00384 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00384 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00384 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00384 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00384 NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00384 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00384 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00384 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00384 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00384 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00384 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00384 NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00384 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00384 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00384 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00384 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00384 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00384 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00384 NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00384 NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00384 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00384 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00384 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00384 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
JBrowse link
orotic aciduria 1 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak3 adenylate kinase 3 ISO SMPDB SMP:00219 NCBI chr 1:226,737,472...226,764,647
Ensembl chr 1:226,739,318...226,764,625
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00219 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00219 NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109
JBrowse link
G Cda cytidine deaminase ISO SMPDB SMP:00219 NCBI chr 5:150,556,615...150,583,231
Ensembl chr 5:150,556,615...150,583,231
JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00219 NCBI chr 6:43,073,706...43,085,183
Ensembl chr 6:43,073,796...43,085,183
JBrowse link
G Ctps1 CTP synthase 1 ISO SMPDB SMP:00219 NCBI chr 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180
JBrowse link
G Dctd dCMP deaminase ISO SMPDB SMP:00219 NCBI chr16:44,066,952...44,098,654
Ensembl chr16:44,055,128...44,098,446
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00219 NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00219 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00219 NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231
JBrowse link
G Dut deoxyuridine triphosphatase ISO SMPDB SMP:00219 NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00219 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00219 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00219 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00219 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00219 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00219 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
JBrowse link
G Tk1 thymidine kinase 1 ISO SMPDB SMP:00219 NCBI chr10:103,034,755...103,046,125
Ensembl chr10:103,031,521...103,046,920
JBrowse link
G Tymp thymidine phosphorylase ISO SMPDB SMP:00219 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
G Tyms thymidylate synthetase ISO SMPDB SMP:00219 NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
JBrowse link
G Uckl1 uridine-cytidine kinase 1-like 1 ISO SMPDB SMP:00219 NCBI chr 3:168,674,849...168,687,513
Ensembl chr 3:168,674,849...168,698,091
JBrowse link
G Umps uridine monophosphate synthetase ISO SMPDB SMP:00219 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00219 NCBI chr20:13,217,252...13,243,590
Ensembl chr20:13,217,258...13,243,590
JBrowse link
G Upp2 uridine phosphorylase 2 ISO SMPDB SMP:00219 NCBI chr 3:43,273,048...43,317,417
Ensembl chr 3:43,273,048...43,317,417
JBrowse link
purine nucleoside phosphorylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00210 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00210 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00210 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00210 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00210 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00210 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00210 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00210 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00210 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00210 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00210 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00210 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00210 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00210 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00210 NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00210 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00210 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00210 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00210 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00210 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00210 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00210 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00210 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00210 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00210 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00210 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00210 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00210 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00210 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00210 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00210 NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00210 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00210 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291
JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00210 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00210 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773
JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00210 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00210 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
xanthinuria type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00512 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00512 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00512 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00512 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00512 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00512 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00512 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00512 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00512 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00512 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00512 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00512 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00512 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00512 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00512 NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00512 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00512 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00512 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00512 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00512 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00512 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00512 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00512 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00512 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00512 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00512 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00512 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00512 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00512 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00512 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00512 NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00512 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00512 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291
JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00512 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00512 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773
JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00512 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00512 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
xanthinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00220 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00220 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00220 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00220 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00220 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00220 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00220 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00220 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00220 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00220 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00220 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00220 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00220 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00220 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00220 NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00220 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00220 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00220 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00220 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00220 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00220 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00220 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00220 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00220 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00220 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00220 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00220 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00220 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00220 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00220 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00220 NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00220 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00220 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291
JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00220 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00220 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773
JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00220 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00220 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
xanthinuria type II pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00513 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00513 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00513 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO SMPDB SMP:00513 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00513 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00513 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00513 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00513 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00513 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00513 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00513 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00513 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00513 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00513 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00513 NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00513 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00513 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00513 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00513 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00513 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00513 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00513 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00513 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00513 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00513 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00513 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00513 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00513 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00513 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00513 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00513 NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00513 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00513 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291
JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00513 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00513 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773
JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00513 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00513 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6092
    disease pathway 1954
      congenital disease pathway 530
        inborn genetic disease pathway 530
          inborn error of metabolism pathway 530
            inborn error of purine-pyrimidine metabolism pathway 110
              Lesch-Nyhan syndrome pathway 37
              adenosine monophosphate deaminase deficiency pathway 37
              adenylosuccinate lyase deficiency pathway 37
              dihydropyrimidinase deficiency pathway 24
              dihydropyrimidine dehydrogenase deficiency pathway 26
              methylmalonate semialdehyde dehydrogenase deficiency pathway 30
              orotic aciduria pathway + 24
              purine nucleoside phosphorylase deficiency pathway 37
              xanthinuria pathway + 37
paths to the root