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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:congenital disease pathway
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Accession:PW:0001476 term browser browse the term
Definition:Those diseases present at birth and also before birth, or those that develop during the first month of life. Alteration(s) in one or several pathways can contribute to the development of the condition usually manifested in structural deformities.
Synonyms:related_synonym: congenital disorder pathway


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11-beta-hydroxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00575 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00575 NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO SMPDB SMP:00575 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO SMPDB SMP:00575 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO SMPDB SMP:00575 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO SMPDB SMP:00575 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00575 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00575 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO SMPDB SMP:00575 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00575 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
JBrowse link
17-alpha-hydroxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00372 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00372 NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO SMPDB SMP:00372 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO SMPDB SMP:00372 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO SMPDB SMP:00372 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO SMPDB SMP:00372 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00372 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00372 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO SMPDB SMP:00372 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00372 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
JBrowse link
2-aminoadipic 2-oxoadipic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadat aminoadipate aminotransferase ISO SMPDB SMP:00719 NCBI chr16:29,509,392...29,544,332
Ensembl chr16:29,509,394...29,544,332
JBrowse link
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00719 NCBI chr 4:51,606,461...51,663,136
Ensembl chr 4:51,606,462...51,663,136
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00719 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO SMPDB SMP:00719 NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00719 NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00719 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00719 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00719 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00719 NCBI chr10:62,769,874...62,783,484
Ensembl chr10:62,769,900...62,782,370
JBrowse link
G Slc25a2 solute carrier family 25 member 2 ISO SMPDB SMP:00719 NCBI chr18:29,452,943...29,457,906
Ensembl chr18:29,453,582...29,460,383
JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00719 NCBI chr16:51,417,478...51,470,784
Ensembl chr16:51,417,493...51,470,784
JBrowse link
2-hydroxyglutaric aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00136 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00136 NCBI chr 5:151,880,002...151,905,491 JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO SMPDB SMP:00136 NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00136 NCBI chr 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00136 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00136 NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00136 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00136 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO SMPDB SMP:00136 NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00136 NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00136 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00136 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
JBrowse link
G Glul glutamate-ammonia ligase ISO SMPDB SMP:00136 NCBI chr13:65,969,064...66,035,121
Ensembl chr13:66,025,630...66,035,108
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00136 NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00136 NCBI chr15:18,596,180...18,608,854
Ensembl chr15:18,596,442...18,608,739
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00136 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00136 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00136 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00136 NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198
JBrowse link
G Nadsyn1 NAD synthetase 1 ISO SMPDB SMP:00136 NCBI chr 1:198,981,559...199,009,806
Ensembl chr 1:198,981,604...199,009,869
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00136 NCBI chr 4:116,281,179...116,293,870
Ensembl chr 4:116,281,328...116,313,137
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00136 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00136 NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
JBrowse link
21-alpha-hydroxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00373 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00373 NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO SMPDB SMP:00373 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO SMPDB SMP:00373 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO SMPDB SMP:00373 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO SMPDB SMP:00373 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00373 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00373 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO SMPDB SMP:00373 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00373 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
JBrowse link
3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00138 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00138 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:00138 NCBI chr 8:25,382,271...25,406,429
Ensembl chr 8:25,382,273...25,406,414
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00138 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:00138 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:00138 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:00138 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:00138 NCBI chr12:34,949,549...34,982,527 JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00138 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:00138 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:00138 NCBI chr17:12,329,522...12,424,896
Ensembl chr17:12,329,524...12,424,896
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00138 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:00138 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:00138 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:00138 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:00138 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:00138 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:00138 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:00138 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:00138 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:00138 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:00138 NCBI chr  X:21,089,152...21,091,597
Ensembl chr  X:21,089,122...21,109,488
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00138 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:00138 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:00138 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:00138 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:00138 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:00138 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:00138 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:00138 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
JBrowse link
3-hydroxyacyl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00568 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249
JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00568 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00568 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00568 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
JBrowse link
G Acss3 acyl-CoA synthetase short-chain family member 3 ISO SMPDB SMP:00568 NCBI chr 7:42,241,261...42,450,230
Ensembl chr 7:42,242,652...42,450,230
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00568 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00568 NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00568 NCBI chr  X:21,089,152...21,091,597
Ensembl chr  X:21,089,122...21,109,488
JBrowse link
3-hydroxyisobutyric aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00521 SMP:00522 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00521 SMP:00522 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:00521 SMP:00522 NCBI chr 8:25,382,271...25,406,429
Ensembl chr 8:25,382,273...25,406,414
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00521 SMP:00522 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:00521 SMP:00522 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:00521 SMP:00522 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:00521 SMP:00522 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:00521 SMP:00522 NCBI chr12:34,949,549...34,982,527 JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00521 SMP:00522 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:00521 SMP:00522 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:00521 SMP:00522 NCBI chr17:12,329,522...12,424,896
Ensembl chr17:12,329,524...12,424,896
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00521 SMP:00522 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:00521 SMP:00522 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:00521 SMP:00522 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:00521 SMP:00522 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:00521 SMP:00522 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:00521 SMP:00522 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:00521 SMP:00522 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:00521 SMP:00522 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:00521 SMP:00522 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:00521 SMP:00522 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:00521 SMP:00522 NCBI chr  X:21,089,152...21,091,597
Ensembl chr  X:21,089,122...21,109,488
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00521 SMP:00522 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:00521 SMP:00522 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:00521 SMP:00522 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:00521 SMP:00522 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:00521 SMP:00522 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:00521 SMP:00522 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:00521 SMP:00522 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:00521 SMP:00522 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
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 chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00237 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:00237 NCBI chr 8:25,382,271...25,406,429
Ensembl chr 8:25,382,273...25,406,414
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00237 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:00237 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:00237 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:00237 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:00237 NCBI chr12:34,949,549...34,982,527 JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00237 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:00237 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:00237 NCBI chr17:12,329,522...12,424,896
Ensembl chr17:12,329,524...12,424,896
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00237 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:00237 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:00237 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:00237 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:00237 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:00237 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:00237 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:00237 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:00237 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:00237 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:00237 NCBI chr  X:21,089,152...21,091,597
Ensembl chr  X:21,089,122...21,109,488
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00237 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:00237 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:00237 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:00237 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:00237 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:00237 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:00237 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:00237 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
JBrowse link
3-methylglutaconic aciduria type 1 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00139 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00139 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:00139 NCBI chr 8:25,382,271...25,406,429
Ensembl chr 8:25,382,273...25,406,414
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00139 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:00139 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:00139 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:00139 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:00139 NCBI chr12:34,949,549...34,982,527 JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00139 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:00139 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:00139 NCBI chr17:12,329,522...12,424,896
Ensembl chr17:12,329,524...12,424,896
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00139 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:00139 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:00139 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:00139 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:00139 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:00139 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:00139 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:00139 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:00139 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:00139 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:00139 NCBI chr  X:21,089,152...21,091,597
Ensembl chr  X:21,089,122...21,109,488
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00139 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:00139 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:00139 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:00139 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:00139 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:00139 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:00139 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:00139 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
JBrowse link
3-methylglutaconic aciduria type 3 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00140 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00140 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:00140 NCBI chr 8:25,382,271...25,406,429
Ensembl chr 8:25,382,273...25,406,414
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00140 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:00140 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:00140 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:00140 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:00140 NCBI chr12:34,949,549...34,982,527 JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00140 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:00140 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:00140 NCBI chr17:12,329,522...12,424,896
Ensembl chr17:12,329,524...12,424,896
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00140 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:00140 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:00140 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:00140 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:00140 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:00140 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:00140 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:00140 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:00140 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:00140 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:00140 NCBI chr  X:21,089,152...21,091,597
Ensembl chr  X:21,089,122...21,109,488
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00140 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:00140 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:00140 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:00140 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:00140 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:00140 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:00140 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:00140 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
JBrowse link
acute intermittent porphyria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO SMPDB SMP:00344 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00344 NCBI chr 8:106,876,514...106,889,852
Ensembl chr 8:106,876,514...106,889,917
JBrowse link
G Blvra biliverdin reductase A ISO SMPDB SMP:00344 NCBI chr 3:114,340,778...114,366,048
Ensembl chr 3:114,340,838...114,366,033
JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO SMPDB SMP:00344 NCBI chr10:48,630,993...48,742,835
Ensembl chr10:48,630,676...48,746,667
JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO SMPDB SMP:00344 NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261
JBrowse link
G Cpox coproporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
JBrowse link
G Fech ferrochelatase ISO SMPDB SMP:00344 NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
JBrowse link
G Ftmt ferritin mitochondrial ISO SMPDB SMP:00344 NCBI chr18:45,758,874...45,760,123
Ensembl chr18:45,758,874...45,760,123
JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00344 NCBI chr12:26,701,191...26,714,718
Ensembl chr12:26,697,951...26,726,905
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO SMPDB SMP:00344 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
G Hmox1 heme oxygenase 1 ISO SMPDB SMP:00344 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Ppox protoporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO SMPDB SMP:00344 NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
JBrowse link
G Uros uroporphyrinogen III synthase ISO SMPDB SMP:00344 NCBI chr 1:188,490,832...188,513,659
Ensembl chr 1:188,490,323...188,512,249
JBrowse link
adenine phoshoribosyltransferase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00535 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00535 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:00535 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760
JBrowse link
G Adss adenylosuccinate synthase ISO SMPDB SMP:00535 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:00535 NCBI chr 3:15,912,431...15,923,045 JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00535 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:00535 NCBI chr19:50,626,436...50,628,404
Ensembl chr19:50,626,202...50,628,431
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00535 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:00535 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:00535 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:00535 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:00535 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:00535 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:00535 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:00535 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:00535 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:00535 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:00535 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:00535 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:00535 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:00535 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:00535 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:00535 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:00535 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:00535 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:00535 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:00535 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:00535 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:00535 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:00535 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:00535 NCBI chr15:24,170,456...24,178,274
Ensembl chr15:24,170,602...24,203,986
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00535 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:00535 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:00535 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:00535 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:00535 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:00535 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
adenosine monophosphate deaminase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00537 NCBI chr 3:152,398,745...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 Adss adenylosuccinate synthase 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 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 chr19:50,626,436...50,628,404
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 chr15:24,170,456...24,178,274
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 Adss adenylosuccinate synthase 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 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 chr19:50,626,436...50,628,404
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 chr15:24,170,456...24,178,274
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
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:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00516 NCBI chr 7:122,263,034...122,311,642
Ensembl chr 7:122,263,032...122,311,642
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00516 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00516 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
JBrowse link
G Crat carnitine O-acetyltransferase ISO SMPDB SMP:00516 NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255
JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00516 NCBI chr 4:25,068,270...25,133,111
Ensembl chr 4:25,080,587...25,133,109
JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00516 NCBI chr12:1,502,606...1,532,347
Ensembl chr12:1,503,646...1,512,585
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00516 NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00516 NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272
JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO SMPDB SMP:00516 NCBI chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512
JBrowse link
AGAT deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 5:151,880,002...151,905,491 JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00362 SMP:00507 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
JBrowse link
G Dao D-amino-acid oxidase ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:42,592,342...42,613,046
Ensembl chr12:42,592,343...42,612,741
JBrowse link
G Eprs glutamyl-prolyl-tRNA synthetase ISO SMPDB SMP:00362 SMP:00507 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 7:9,448,590...9,451,778
Ensembl chr 7:9,448,628...9,451,778
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633
JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00362 SMP:00507 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918
JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775
JBrowse link
G Prodh1 proline dehydrogenase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305
JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00362 SMP:00507 NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00362 SMP:00507 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00362 SMP:00507 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010
JBrowse link
AICA-ribosuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00168 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00168 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:00168 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760
JBrowse link
G Adss adenylosuccinate synthase ISO SMPDB SMP:00168 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:00168 NCBI chr 3:15,912,431...15,923,045 JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00168 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:00168 NCBI chr19:50,626,436...50,628,404
Ensembl chr19:50,626,202...50,628,431
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00168 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:00168 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:00168 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:00168 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:00168 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:00168 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:00168 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:00168 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:00168 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:00168 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:00168 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:00168 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:00168 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:00168 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:00168 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:00168 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:00168 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:00168 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:00168 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:00168 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:00168 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:00168 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:00168 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:00168 NCBI chr15:24,170,456...24,178,274
Ensembl chr15:24,170,602...24,203,986
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00168 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:00168 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:00168 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:00168 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:00168 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:00168 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
alkaptonuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00169 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681
JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO SMPDB SMP:00169 NCBI chr 4:77,812,260...77,831,846
Ensembl chr 4:77,812,260...77,831,840
JBrowse link
G Comt catechol-O-methyltransferase ISO SMPDB SMP:00169 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
JBrowse link
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00169 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248
JBrowse link
G Dct dopachrome tautomerase ISO SMPDB SMP:00169 NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836
JBrowse link
G Ddc dopa decarboxylase ISO SMPDB SMP:00169 NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208
JBrowse link
G Fah fumarylacetoacetate hydrolase ISO SMPDB SMP:00169 NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00169 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00169 NCBI chr 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284
JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00169 NCBI chr 6:10,845,235...10,864,863
Ensembl chr 6:10,845,771...10,864,877
JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO SMPDB SMP:00169 NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323
JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00169 NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766
JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00169 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593
JBrowse link
G Mif macrophage migration inhibitory factor ISO SMPDB SMP:00169 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO SMPDB SMP:00169 NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556
JBrowse link
G Tat tyrosine aminotransferase ISO SMPDB SMP:00169 NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031
JBrowse link
G Tyr tyrosinase ISO SMPDB SMP:00169 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
apparent mineralocorticoid excess syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00717 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00717 NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO SMPDB SMP:00717 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO SMPDB SMP:00717 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO SMPDB SMP:00717 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO SMPDB SMP:00717 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00717 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00717 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO SMPDB SMP:00717 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00717 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00003 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00003 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00003 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00003 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00003 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00003 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00003 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00003 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00003 NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00003 NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952
JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00003 NCBI chr 3:56,098,080...56,192,188
Ensembl chr 3:56,097,269...56,192,100
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00003 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010
JBrowse link
aromatic L-amino acid decarboxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dbh dopamine beta-hydroxylase ISO SMPDB SMP:00170 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248
JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO SMPDB SMP:00170 NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556
JBrowse link
G Th tyrosine hydroxylase ISO SMPDB SMP:00170 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
JBrowse link
beta-ureidopropionase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak3 adenylate kinase 3 ISO SMPDB SMP:00172 NCBI chr 1:226,737,472...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:00172 NCBI chr 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861
JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00172 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:00172 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:00172 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:00172 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:00172 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:00172 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:00172 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:00172 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:00172 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:00172 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:00172 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:00172 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:00172 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:00172 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:00172 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:00172 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:00172 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:00172 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:00172 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:00172 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:00172 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:00172 NCBI chr 3:43,273,048...43,317,417
Ensembl chr 3:43,273,048...43,317,417
JBrowse link
biotinidase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btd biotinidase ISO SMPDB SMP:00174 NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
JBrowse link
G Hlcs holocarboxylase synthetase ISO SMPDB SMP:00174 NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222
JBrowse link
G Spcs1 signal peptidase complex subunit 1 ISO SMPDB SMP:00174 NCBI chr16:6,190,208...6,191,776
Ensembl chr16:6,190,262...6,192,000
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 chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00175 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760
JBrowse link
G Adss1 adenylosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00175 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
JBrowse link
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO SMPDB SMP:00175 NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423
JBrowse link
G Aspa aspartoacylase ISO SMPDB SMP:00175 NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272
JBrowse link
G Asrgl1 asparaginase and isoaspartyl peptidase 1 ISO SMPDB SMP:00175 NCBI chr 1:206,006,103...206,027,115
Ensembl chr 1:206,006,109...206,027,108
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00175 NCBI chr 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861
JBrowse link
G Dars1 aspartyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chr13:39,857,936...39,913,055
Ensembl chr13:39,857,936...39,913,116
JBrowse link
G Ddo D-aspartate oxidase ISO SMPDB SMP:00175 NCBI chr20:44,090,823...44,109,962
Ensembl chr20:44,090,914...44,133,095
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00175 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00175 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562
JBrowse link
G Nars1 asparaginyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chr18:57,989,308...58,005,639
Ensembl chr18:57,989,308...58,005,622
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 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00002 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00002 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952
JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chr 3:56,098,080...56,192,188
Ensembl chr 3:56,097,269...56,192,100
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010
JBrowse link
carnitine palmitoyltransferase I deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00538 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249
JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00538 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00538 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:00538 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:00538 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO SMPDB SMP:00538 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00538 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00538 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00538 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00538 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00538 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00538 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00538 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00538 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
JBrowse link
carnitine-acylcarnitine translocase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO SMPDB SMP:00517 NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00517 NCBI chr 7:122,263,034...122,311,642
Ensembl chr 7:122,263,032...122,311,642
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00517 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
JBrowse link
G Crat carnitine O-acetyltransferase ISO SMPDB SMP:00517 NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255
JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chr 4:25,068,270...25,133,111
Ensembl chr 4:25,080,587...25,133,109
JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chr12:1,502,606...1,532,347
Ensembl chr12:1,503,646...1,512,585
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00517 NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272
JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO SMPDB SMP:00517 NCBI chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512
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 chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00493 NCBI chr12:34,949,549...34,982,527 JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00493 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656
JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO SMPDB SMP:00493 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO SMPDB SMP:00493 NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00493 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:00493 NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00493 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00493 NCBI chr20:13,217,252...13,243,590
Ensembl chr20:13,217,258...13,243,590
JBrowse link
cerebrotendinous xanthomatosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO SMPDB SMP:00315 NCBI chr15:16,660,584...16,692,160
Ensembl chr15:16,660,272...16,692,160
JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00315 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00315 NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00315 NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO SMPDB SMP:00315 NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00315 NCBI chr 1:232,014,877...232,016,195
Ensembl chr 1:232,014,880...232,016,195
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
JBrowse link
G Cyp39a1 cytochrome P450, family 39, subfamily a, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 9:17,230,455...17,306,775
Ensembl chr 9:17,230,455...17,306,775
JBrowse link
G Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 6:127,243,315...127,274,765
Ensembl chr 6:127,243,315...127,274,760
JBrowse link
G Cyp7a1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00315 NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
JBrowse link
G Cyp8b1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00315 NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO SMPDB SMP:00315 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00315 NCBI chr 1:182,411,836...182,415,447
Ensembl chr 1:182,412,151...182,415,442
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00315 NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
G Scp2 sterol carrier protein 2 ISO SMPDB SMP:00315 NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287
JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00315 NCBI chr 1:73,616,556...73,627,149
Ensembl chr 1:73,616,564...73,627,172
JBrowse link
cholesterol ester storage disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00508 NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00508 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00508 NCBI chr 5:121,344,637...121,368,853
Ensembl chr 5:121,344,575...121,371,137
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00508 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00508 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00508 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00508 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00508 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00508 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00508 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00508 NCBI chr17:61,629,592...61,637,357
Ensembl chr17:61,629,594...61,637,357
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00508 NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00508 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00508 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00508 NCBI chr19:50,496,366...50,506,389
Ensembl chr19:50,496,367...50,507,971
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00508 NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00508 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00508 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00508 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00508 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00508 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00508 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270
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 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00001 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00001 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00001 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00001 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00001 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00001 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00001 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00001 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00001 NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00001 NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952
JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00001 NCBI chr 3:56,098,080...56,192,188
Ensembl chr 3:56,097,269...56,192,100
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00001 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010
JBrowse link
congenital bile acid synthesis defect pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO SMPDB SMP:00314 SMP:00318 NCBI chr15:16,660,584...16,692,160
Ensembl chr15:16,660,272...16,692,160
JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00314 SMP:00318 NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO SMPDB SMP:00314 SMP:00318 NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00314 SMP:00318 NCBI chr 1:232,014,877...232,016,195
Ensembl chr 1:232,014,880...232,016,195
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
JBrowse link
G Cyp39a1 cytochrome P450, family 39, subfamily a, polypeptide 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 9:17,230,455...17,306,775
Ensembl chr 9:17,230,455...17,306,775
JBrowse link
G Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 6:127,243,315...127,274,765
Ensembl chr 6:127,243,315...127,274,760
JBrowse link
G Cyp7a1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
JBrowse link
G Cyp8b1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO SMPDB SMP:00314 SMP:00318 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 1:182,411,836...182,415,447
Ensembl chr 1:182,412,151...182,415,442
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00314 SMP:00318 NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
G Scp2 sterol carrier protein 2 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287
JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 1:73,616,556...73,627,149
Ensembl chr 1:73,616,564...73,627,172
JBrowse link
congenital hemidysplasia with ichthyosiform erythroderma and limb defects 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:00387 NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00387 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00387 NCBI chr 5:121,344,637...121,368,853
Ensembl chr 5:121,344,575...121,371,137
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00387 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00387 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00387 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00387 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00387 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00387 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00387 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00387 NCBI chr17:61,629,592...61,637,357
Ensembl chr17:61,629,594...61,637,357
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00387 NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00387 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00387 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00387 NCBI chr19:50,496,366...50,506,389
Ensembl chr19:50,496,367...50,507,971
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00387 NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00387 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00387 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00387 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00387 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00387 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00387 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270
JBrowse link
congenital sucrase-isomaltase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO SMPDB SMP:00557 NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00557 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00557 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00557 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086
JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00557 NCBI chr12:26,701,191...26,714,718
Ensembl chr12:26,697,951...26,726,905
JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00557 NCBI chr 4:175,365,054...175,406,228
Ensembl chr 4:175,365,054...175,406,228
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00557 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530
JBrowse link
G Mgam maltase-glucoamylase ISO SMPDB SMP:00557 NCBI chr 4:69,624,024...69,715,782
Ensembl chr 4:69,446,150...69,692,715
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00557 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728
JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO SMPDB SMP:00557 NCBI chr 1:154,571,410...154,620,902
Ensembl chr 1:154,571,766...154,620,902
JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00557 NCBI chr 6:88,697,598...88,740,260
Ensembl chr 6:88,697,593...88,740,310
JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00557 NCBI chr 2:157,505,893...157,586,228
Ensembl chr 2:157,506,342...157,585,260
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00557 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00557 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830
JBrowse link
cystathioninuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO SMPDB SMP:00514 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00514 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234
JBrowse link
cystinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO SMPDB SMP:00723 NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
JBrowse link
G Aqp2 aquaporin 2 ISO SMPDB SMP:00723 NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468
JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO SMPDB SMP:00723 NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00723 NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO SMPDB SMP:00723 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00723 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
G Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 ISO SMPDB SMP:00723 NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687
JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00723 NCBI chr13:76,786,580...76,807,096
Ensembl chr13:76,786,578...76,807,459
JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00723 NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
JBrowse link
G Atp1b3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00723 NCBI chr 8:96,910,265...96,941,592
Ensembl chr 8:96,910,309...96,941,598
JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00723 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020
JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO SMPDB SMP:00723 NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148
JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO SMPDB SMP:00723 NCBI chr 8:45,712,887...45,720,032
Ensembl chr 8:45,712,903...45,720,203
JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO SMPDB SMP:00723 NCBI chr19:30,715,648...31,059,885
Ensembl chr19:30,715,648...31,059,885
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00723 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00723 NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00723 NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO SMPDB SMP:00723 NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899
JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO SMPDB SMP:00723 NCBI chr19:10,630,649...10,679,250
Ensembl chr19:10,631,393...10,669,091
JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO SMPDB SMP:00723 NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258
JBrowse link
G Slc14a2 solute carrier family 14 member 2 ISO SMPDB SMP:00723 NCBI chr18:71,612,460...72,039,462
Ensembl chr18:71,612,460...71,792,968
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO SMPDB SMP:00723 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402
JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO SMPDB SMP:00723 NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO SMPDB SMP:00723 NCBI chr 1:205,522,579...205,531,179
Ensembl chr 1:205,522,729...205,531,173
JBrowse link
G Slc38a4 solute carrier family 38, member 4 ISO SMPDB SMP:00723 NCBI chr 7:128,142,866...128,203,000
Ensembl chr 7:128,144,807...128,202,995
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO SMPDB SMP:00723 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907
JBrowse link
G Slc3a2 solute carrier family 3 member 2 ISO SMPDB SMP:00723 NCBI chr 1:205,604,468...205,618,931
Ensembl chr 1:205,604,468...205,618,931
JBrowse link
G Slc6a20 solute carrier family 6 member 20 ISO SMPDB SMP:00723 NCBI chr 8:123,282,325...123,322,609
Ensembl chr 8:123,281,472...123,322,573
JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO SMPDB SMP:00723 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
JBrowse link
G Slc7a6 solute carrier family 7 member 6 ISO SMPDB SMP:00723 NCBI chr19:34,073,472...34,100,268
Ensembl chr19:34,074,286...34,100,268
JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO SMPDB SMP:00723 NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648
JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO SMPDB SMP:00723 NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717
JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO SMPDB SMP:00723 NCBI chr 1:88,109,517...88,132,653
Ensembl chr 1:88,110,644...88,132,641
JBrowse link
D-glycericacidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO SMPDB SMP:00529 NCBI chr20:4,135,955...4,144,880
Ensembl chr20:4,135,957...4,145,278
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00529 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00529 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681
JBrowse link
G Dgka diacylglycerol kinase, alpha ISO SMPDB SMP:00529 NCBI chr 7:1,148,734...1,175,324
Ensembl chr 7:1,148,735...1,175,110
JBrowse link
G Gk glycerol kinase ISO SMPDB SMP:00529 NCBI chr  X:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00529 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00529 NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639
JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00529 NCBI chr 7:130,842,526...130,851,530
Ensembl chr 7:130,844,138...130,851,529
JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00529 NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901
JBrowse link
G Lipc lipase C, hepatic type ISO SMPDB SMP:00529 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00529 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00529 NCBI chr 2:44,439,002...44,500,430
Ensembl chr 2:44,438,994...44,501,268
JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00529 NCBI chr 7:10,175,918...10,184,032
Ensembl chr 7:10,175,948...10,184,071
JBrowse link
desmosterolosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00386 NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00386 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00386 NCBI chr 5:121,344,637...121,368,853
Ensembl chr 5:121,344,575...121,371,137
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00386 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00386 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00386 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00386 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00386 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00386 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00386 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00386 NCBI chr17:61,629,592...61,637,357
Ensembl chr17:61,629,594...61,637,357
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00386 NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00386 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00386 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00386 NCBI chr19:50,496,366...50,506,389
Ensembl chr19:50,496,367...50,507,971
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00386 NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00386 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00386 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00386 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00386 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00386 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00386 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270
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...25,315,176
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