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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:disease pathway
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Accession:PW:0000013 term browser browse the term
Definition:Complex human diseases encompass a spectrum of genetic and environmental attributes that together affect the normal functioning of several molecular and cellular pathways. Their combined and accumulated effect is manifested in the anomalous phenotype of the complex condition.
Synonyms:related_synonym: Disease;   complex human diseases
 alt_id: Reactome:R-HSA-1643685


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11-beta-hydroxylase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00575 NCBI chr18:11,416,065...11,532,846
Ensembl chr18:11,416,068...11,532,728
JBrowse link
G CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 ISO SMPDB SMP:00575 NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478
JBrowse link
G CYP17A1 cytochrome P450 17A1 ISO SMPDB SMP:00575 NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041
JBrowse link
G CYP21A2 cytochrome P450, family 21, subfamily A, polypepide 2 ISO SMPDB SMP:00575 NCBI chr 7:24,086,138...24,089,364
Ensembl chr 7:24,086,217...24,089,374
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00575 NCBI chr 9:133,231,451...133,278,396
Ensembl chr 9:133,231,451...133,278,396
JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00575 NCBI chr 6:28,084,087...28,089,256
Ensembl chr 6:28,083,955...28,089,672
JBrowse link
G HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO SMPDB SMP:00575 NCBI chr 4:101,565,229...101,574,110 JBrowse link
G LOC110260194 cytochrome P450 11B1, mitochondrial ISO SMPDB SMP:00575 NCBI chr 4:1,365,725...1,373,138 JBrowse link
17-alpha-hydroxylase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00372 NCBI chr18:11,416,065...11,532,846
Ensembl chr18:11,416,068...11,532,728
JBrowse link
G CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 ISO SMPDB SMP:00372 NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478
JBrowse link
G CYP17A1 cytochrome P450 17A1 ISO SMPDB SMP:00372 NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041
JBrowse link
G CYP21A2 cytochrome P450, family 21, subfamily A, polypepide 2 ISO SMPDB SMP:00372 NCBI chr 7:24,086,138...24,089,364
Ensembl chr 7:24,086,217...24,089,374
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00372 NCBI chr 9:133,231,451...133,278,396
Ensembl chr 9:133,231,451...133,278,396
JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00372 NCBI chr 6:28,084,087...28,089,256
Ensembl chr 6:28,083,955...28,089,672
JBrowse link
G HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO SMPDB SMP:00372 NCBI chr 4:101,565,229...101,574,110 JBrowse link
G LOC110260194 cytochrome P450 11B1, mitochondrial ISO SMPDB SMP:00372 NCBI chr 4:1,365,725...1,373,138 JBrowse link
2-aminoadipic 2-oxoadipic aciduria pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AADAT aminoadipate aminotransferase ISO SMPDB SMP:00719 NCBI chr14:19,768,816...19,792,254
Ensembl chr14:19,768,499...19,791,938
JBrowse link
G AASS aminoadipate-semialdehyde synthase ISO SMPDB SMP:00719 NCBI chr18:24,938,366...25,039,197
Ensembl chr18:24,974,816...25,039,196
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00719 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00719 NCBI chr 2:129,663,226...129,709,728
Ensembl chr 2:129,662,296...129,713,729
JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00719 NCBI chr10:59,820,418...59,875,322
Ensembl chr10:59,790,073...59,875,245
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00719 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00719 NCBI chr 7:98,091,161...98,111,267
Ensembl chr 7:98,091,123...98,111,572
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00719 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00719 NCBI chr 8:113,952,561...114,005,510
Ensembl chr 8:113,950,033...114,005,512
JBrowse link
G LOC110255229 peroxisomal sarcosine oxidase ISO SMPDB SMP:00719 NCBI chr12:45,256,806...45,270,755
Ensembl chr12:45,257,188...45,322,767
JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO SMPDB SMP:00719 NCBI chr 2:142,943,565...142,947,313
Ensembl chr 2:142,944,078...142,944,980
JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO SMPDB SMP:00719 NCBI chr17:5,191,973...5,271,849
Ensembl chr17:5,122,265...5,271,849
JBrowse link
2-hydroxyglutaric aciduria pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00136 NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00136 NCBI chr 6:77,373,999...77,404,015
Ensembl chr 6:77,373,999...77,393,651
JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 ISO SMPDB SMP:00136 NCBI chr 7:19,351,485...19,375,515
Ensembl chr 7:19,351,361...19,379,100
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00136 NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,495
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00136 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,209,999...113,339,078
JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00136 NCBI chr 3:22,654,351...22,684,246
Ensembl chr 3:22,655,377...22,685,480
JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00136 NCBI chr15:76,991,863...77,034,819
Ensembl chr15:76,991,928...77,034,817
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00136 NCBI chr 7:27,209,565...27,253,535
Ensembl chr 7:27,209,564...27,253,535
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00136 NCBI chr 4:123,371,198...123,390,130
Ensembl chr 4:123,371,193...123,390,135
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00136 NCBI chr 3:73,028,750...73,086,191
Ensembl chr 3:72,983,188...73,085,319
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00136 NCBI chr 5:21,806,405...21,820,001
Ensembl chr 5:21,806,406...21,820,001
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00136 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G GLUL glutamate-ammonia ligase ISO SMPDB SMP:00136 NCBI chr 9:123,751,551...123,762,575
Ensembl chr 9:123,751,548...123,762,547
JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00136 NCBI chr13:95,742,342...95,820,903
Ensembl chr13:95,742,383...95,819,762
JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00136 NCBI chr 1:182,404,460...182,423,453
Ensembl chr 1:182,407,215...182,423,443
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00136 NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,198...20,432,068
JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00136 NCBI chr 4:297,747...302,498
Ensembl chr 4:297,748...320,056
JBrowse link
G GSR glutathione-disulfide reductase ISO SMPDB SMP:00136 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,989
JBrowse link
G GSS glutathione synthetase ISO SMPDB SMP:00136 NCBI chr17:38,316,199...38,342,253
Ensembl chr17:38,312,720...38,342,304
JBrowse link
G NADSYN1 NAD synthetase 1 ISO SMPDB SMP:00136 NCBI chr 2:2,334,793...2,372,356
Ensembl chr 2:2,334,793...2,372,355
JBrowse link
G NAGK N-acetylglucosamine kinase ISO SMPDB SMP:00136 NCBI chr 3:71,496,191...71,513,020
Ensembl chr 3:71,500,337...71,512,998
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00136 NCBI chr 8:55,652,194...55,701,077
Ensembl chr 8:55,652,201...55,701,077
JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00136 NCBI chr13:31,715,686...31,723,200
Ensembl chr13:31,715,687...31,723,197
JBrowse link
21-alpha-hydroxylase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00373 NCBI chr18:11,416,065...11,532,846
Ensembl chr18:11,416,068...11,532,728
JBrowse link
G CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 ISO SMPDB SMP:00373 NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478
JBrowse link
G CYP17A1 cytochrome P450 17A1 ISO SMPDB SMP:00373 NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041
JBrowse link
G CYP21A2 cytochrome P450, family 21, subfamily A, polypepide 2 ISO SMPDB SMP:00373 NCBI chr 7:24,086,138...24,089,364
Ensembl chr 7:24,086,217...24,089,374
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00373 NCBI chr 9:133,231,451...133,278,396
Ensembl chr 9:133,231,451...133,278,396
JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00373 NCBI chr 6:28,084,087...28,089,256
Ensembl chr 6:28,083,955...28,089,672
JBrowse link
G HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO SMPDB SMP:00373 NCBI chr 4:101,565,229...101,574,110 JBrowse link
G LOC110260194 cytochrome P450 11B1, mitochondrial ISO SMPDB SMP:00373 NCBI chr 4:1,365,725...1,373,138 JBrowse link
3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00138 NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00138 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00138 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00138 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00138 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00138 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00138 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00138 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,357,952...97,381,841
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00138 NCBI chr15:104,157,748...104,234,533
Ensembl chr15:104,153,702...104,238,400
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00138 NCBI chr14:2,398,456...2,546,329
Ensembl chr14:2,398,462...2,546,320
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00138 NCBI chr 5:48,814,212...48,925,632
Ensembl chr 5:48,814,300...48,925,976
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00138 NCBI chr 6:49,381,995...49,398,745 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00138 NCBI chr 1:85,755,819...86,017,661
Ensembl chr 1:85,715,203...86,017,600
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00138 NCBI chr 4:117,884,657...117,924,006
Ensembl chr 4:117,875,002...117,937,561
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00138 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00138 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00138 NCBI chr18:44,985,410...45,102,171
Ensembl chr18:44,985,425...45,208,347
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00138 NCBI chr15:94,795,744...94,941,362
Ensembl chr15:94,785,453...94,941,381
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00138 NCBI chr 6:81,611,516...81,630,454
Ensembl chr 6:81,611,422...81,630,530
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00138 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,545...46,220,944
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00138 NCBI chr 1:130,896,488...130,910,582
Ensembl chr 1:130,893,983...130,940,350
JBrowse link
G LOC110260333 hydroxymethylglutaryl-CoA synthase, mitochondrial-like ISO SMPDB SMP:00138 NCBI chr 4:101,385,486...101,404,273
Ensembl chr 4:101,385,512...101,443,405
JBrowse link
G MCCC1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00138 NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,912,828...121,106,666
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00138 NCBI chr16:47,917,308...47,996,540
Ensembl chr16:47,917,291...47,996,540
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00138 NCBI chr 1:143,993,714...144,022,372
Ensembl chr 1:143,993,731...144,024,879
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00138 NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,292...43,624,609
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00138 NCBI chr16:26,514,497...26,659,739
Ensembl chr16:26,512,396...26,659,845
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00138 NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,301,533
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00138 NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,317,497
JBrowse link
3-hydroxyacyl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00568 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00568 NCBI chr15:112,935,631...112,969,381
Ensembl chr15:112,933,498...112,969,578
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00568 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00568 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ACSS3 acyl-CoA synthetase short chain family member 3 ISO SMPDB SMP:00568 NCBI chr 5:100,272,255...100,429,229
Ensembl chr 5:100,270,038...100,429,204
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00568 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00568 NCBI chr 8:113,952,561...114,005,510
Ensembl chr 8:113,950,033...114,005,512
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00568 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,545...46,220,944
JBrowse link
3-hydroxyisobutyric aciduria pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00521, SMP:00522 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00521, SMP:00522 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00521, SMP:00522 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00521, SMP:00522 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,357,952...97,381,841
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr15:104,157,748...104,234,533
Ensembl chr15:104,153,702...104,238,400
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00521, SMP:00522 NCBI chr14:2,398,456...2,546,329
Ensembl chr14:2,398,462...2,546,320
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 5:48,814,212...48,925,632
Ensembl chr 5:48,814,300...48,925,976
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00521, SMP:00522 NCBI chr 6:49,381,995...49,398,745 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00521, SMP:00522 NCBI chr 1:85,755,819...86,017,661
Ensembl chr 1:85,715,203...86,017,600
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00521, SMP:00522 NCBI chr 4:117,884,657...117,924,006
Ensembl chr 4:117,875,002...117,937,561
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00521, SMP:00522 NCBI chr18:44,985,410...45,102,171
Ensembl chr18:44,985,425...45,208,347
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00521, SMP:00522 NCBI chr15:94,795,744...94,941,362
Ensembl chr15:94,785,453...94,941,381
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 6:81,611,516...81,630,454
Ensembl chr 6:81,611,422...81,630,530
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00521, SMP:00522 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,545...46,220,944
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 1:130,896,488...130,910,582
Ensembl chr 1:130,893,983...130,940,350
JBrowse link
G LOC110260333 hydroxymethylglutaryl-CoA synthase, mitochondrial-like ISO SMPDB SMP:00521, SMP:00522 NCBI chr 4:101,385,486...101,404,273
Ensembl chr 4:101,385,512...101,443,405
JBrowse link
G MCCC1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,912,828...121,106,666
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00521, SMP:00522 NCBI chr16:47,917,308...47,996,540
Ensembl chr16:47,917,291...47,996,540
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 1:143,993,714...144,022,372
Ensembl chr 1:143,993,731...144,024,879
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00521, SMP:00522 NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,292...43,624,609
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00521, SMP:00522 NCBI chr16:26,514,497...26,659,739
Ensembl chr16:26,512,396...26,659,845
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00521, SMP:00522 NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,301,533
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00521, SMP:00522 NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,317,497
JBrowse link
3-methylcrotonyl CoA carboxylase 1 deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00237 NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00237 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00237 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00237 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00237 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00237 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00237 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00237 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,357,952...97,381,841
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00237 NCBI chr15:104,157,748...104,234,533
Ensembl chr15:104,153,702...104,238,400
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00237 NCBI chr14:2,398,456...2,546,329
Ensembl chr14:2,398,462...2,546,320
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00237 NCBI chr 5:48,814,212...48,925,632
Ensembl chr 5:48,814,300...48,925,976
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00237 NCBI chr 6:49,381,995...49,398,745 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00237 NCBI chr 1:85,755,819...86,017,661
Ensembl chr 1:85,715,203...86,017,600
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00237 NCBI chr 4:117,884,657...117,924,006
Ensembl chr 4:117,875,002...117,937,561
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00237 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00237 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00237 NCBI chr18:44,985,410...45,102,171
Ensembl chr18:44,985,425...45,208,347
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00237 NCBI chr15:94,795,744...94,941,362
Ensembl chr15:94,785,453...94,941,381
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00237 NCBI chr 6:81,611,516...81,630,454
Ensembl chr 6:81,611,422...81,630,530
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00237 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,545...46,220,944
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00237 NCBI chr 1:130,896,488...130,910,582
Ensembl chr 1:130,893,983...130,940,350
JBrowse link
G LOC110260333 hydroxymethylglutaryl-CoA synthase, mitochondrial-like ISO SMPDB SMP:00237 NCBI chr 4:101,385,486...101,404,273
Ensembl chr 4:101,385,512...101,443,405
JBrowse link
G MCCC1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00237 NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,912,828...121,106,666
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00237 NCBI chr16:47,917,308...47,996,540
Ensembl chr16:47,917,291...47,996,540
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00237 NCBI chr 1:143,993,714...144,022,372
Ensembl chr 1:143,993,731...144,024,879
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00237 NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,292...43,624,609
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00237 NCBI chr16:26,514,497...26,659,739
Ensembl chr16:26,512,396...26,659,845
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00237 NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,301,533
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00237 NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,317,497
JBrowse link
3-methylglutaconic aciduria type 1 pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00139 NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00139 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00139 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00139 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00139 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00139 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00139 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00139 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,357,952...97,381,841
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00139 NCBI chr15:104,157,748...104,234,533
Ensembl chr15:104,153,702...104,238,400
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00139 NCBI chr14:2,398,456...2,546,329
Ensembl chr14:2,398,462...2,546,320
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00139 NCBI chr 5:48,814,212...48,925,632
Ensembl chr 5:48,814,300...48,925,976
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00139 NCBI chr 6:49,381,995...49,398,745 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00139 NCBI chr 1:85,755,819...86,017,661
Ensembl chr 1:85,715,203...86,017,600
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00139 NCBI chr 4:117,884,657...117,924,006
Ensembl chr 4:117,875,002...117,937,561
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00139 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00139 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00139 NCBI chr18:44,985,410...45,102,171
Ensembl chr18:44,985,425...45,208,347
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00139 NCBI chr15:94,795,744...94,941,362
Ensembl chr15:94,785,453...94,941,381
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00139 NCBI chr 6:81,611,516...81,630,454
Ensembl chr 6:81,611,422...81,630,530
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00139 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,545...46,220,944
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00139 NCBI chr 1:130,896,488...130,910,582
Ensembl chr 1:130,893,983...130,940,350
JBrowse link
G LOC110260333 hydroxymethylglutaryl-CoA synthase, mitochondrial-like ISO SMPDB SMP:00139 NCBI chr 4:101,385,486...101,404,273
Ensembl chr 4:101,385,512...101,443,405
JBrowse link
G MCCC1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00139 NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,912,828...121,106,666
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00139 NCBI chr16:47,917,308...47,996,540
Ensembl chr16:47,917,291...47,996,540
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00139 NCBI chr 1:143,993,714...144,022,372
Ensembl chr 1:143,993,731...144,024,879
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00139 NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,292...43,624,609
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00139 NCBI chr16:26,514,497...26,659,739
Ensembl chr16:26,512,396...26,659,845
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00139 NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,301,533
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00139 NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,317,497
JBrowse link
3-methylglutaconic aciduria type 3 pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00140 NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00140 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00140 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00140 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00140 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00140 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00140 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00140 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,357,952...97,381,841
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00140 NCBI chr15:104,157,748...104,234,533
Ensembl chr15:104,153,702...104,238,400
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00140 NCBI chr14:2,398,456...2,546,329
Ensembl chr14:2,398,462...2,546,320
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00140 NCBI chr 5:48,814,212...48,925,632
Ensembl chr 5:48,814,300...48,925,976
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00140 NCBI chr 6:49,381,995...49,398,745 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00140 NCBI chr 1:85,755,819...86,017,661
Ensembl chr 1:85,715,203...86,017,600
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00140 NCBI chr 4:117,884,657...117,924,006
Ensembl chr 4:117,875,002...117,937,561
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00140 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00140 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00140 NCBI chr18:44,985,410...45,102,171
Ensembl chr18:44,985,425...45,208,347
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00140 NCBI chr15:94,795,744...94,941,362
Ensembl chr15:94,785,453...94,941,381
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00140 NCBI chr 6:81,611,516...81,630,454
Ensembl chr 6:81,611,422...81,630,530
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00140 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,545...46,220,944
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00140 NCBI chr 1:130,896,488...130,910,582
Ensembl chr 1:130,893,983...130,940,350
JBrowse link
G LOC110260333 hydroxymethylglutaryl-CoA synthase, mitochondrial-like ISO SMPDB SMP:00140 NCBI chr 4:101,385,486...101,404,273
Ensembl chr 4:101,385,512...101,443,405
JBrowse link
G MCCC1 methylcrotonoyl-CoA carboxylase 1 ISO SMPDB SMP:00140 NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,912,828...121,106,666
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO SMPDB SMP:00140 NCBI chr16:47,917,308...47,996,540
Ensembl chr16:47,917,291...47,996,540
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00140 NCBI chr 1:143,993,714...144,022,372
Ensembl chr 1:143,993,731...144,024,879
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00140 NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,292...43,624,609
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00140 NCBI chr16:26,514,497...26,659,739
Ensembl chr16:26,512,396...26,659,845
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00140 NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,301,533
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00140 NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,317,497
JBrowse link
acute intermittent porphyria pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAD aminolevulinate dehydratase ISO SMPDB SMP:00344 NCBI chr 1:254,015,426...254,027,584
Ensembl chr 1:254,012,196...254,027,485
JBrowse link
G ALAS1 aminolevulinate, delta-, synthase 1 pseudogene ISO SMPDB SMP:00344 NCBI chr13:34,333,263...34,347,435
Ensembl chr13:34,333,113...34,347,590
JBrowse link
G BLVRA biliverdin reductase A ISO SMPDB SMP:00344 NCBI chr18:51,131,576...51,185,493
Ensembl chr18:51,121,946...51,185,437
JBrowse link
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO SMPDB SMP:00344 NCBI chr12:58,011,831...58,110,575
Ensembl chr12:58,011,831...58,117,700
JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 ISO SMPDB SMP:00344 NCBI chr14:110,875,614...110,895,044
Ensembl chr14:110,875,818...110,894,948
JBrowse link
G CPOX coproporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chr13:160,332,436...160,345,862
Ensembl chr13:160,332,436...160,348,232
JBrowse link
G FECH ferrochelatase ISO SMPDB SMP:00344 NCBI chr 1:106,861,628...106,898,407
Ensembl chr 1:106,854,002...106,898,418
JBrowse link
G FTMT ferritin mitochondrial ISO SMPDB SMP:00344 NCBI chr 2:125,391,524...125,395,066
Ensembl chr 2:125,392,394...125,393,122
JBrowse link
G GUSB glucuronidase beta ISO SMPDB SMP:00344 NCBI chr 3:16,672,071...16,686,520
Ensembl chr 3:16,671,420...16,689,231
JBrowse link
G HMBS hydroxymethylbilane synthase ISO SMPDB SMP:00344 NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,313,936
JBrowse link
G HMOX1 heme oxygenase 1 ISO SMPDB SMP:00344
G PPOX protoporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chr 4:89,277,984...89,288,946
Ensembl chr 4:89,277,117...89,288,902
JBrowse link
G UROD uroporphyrinogen decarboxylase ISO SMPDB SMP:00344 NCBI chr 6:166,327,243...166,330,558
Ensembl chr 6:166,327,247...166,330,614
JBrowse link
G UROS uroporphyrinogen III synthase ISO SMPDB SMP:00344 NCBI chr14:135,101,609...135,131,082
Ensembl chr14:135,055,538...135,131,074
JBrowse link
adenine phoshoribosyltransferase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO SMPDB SMP:00535 NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,495...47,072,245
JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00535 NCBI chr 4:83,103,768...83,205,015
Ensembl chr 4:83,098,285...83,204,453
JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00535 NCBI chr 5:8,027,799...8,045,480
Ensembl chr 5:7,985,700...8,045,510
JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00535 NCBI chr10:17,220,081...17,259,141
Ensembl chr10:17,220,208...17,259,166
JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00535 NCBI chr 1:268,355,032...268,365,659
Ensembl chr 1:268,355,032...268,365,598
JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00535 NCBI chr 4:105,868,834...105,892,171
Ensembl chr 4:105,868,897...105,893,771
JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00535 NCBI chr 6:890,272...893,278
Ensembl chr 6:890,831...893,277
JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00535 NCBI chr14:99,802,939...99,885,562
Ensembl chr14:99,790,300...99,885,160
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00535 NCBI chr15:117,617,584...117,649,063
Ensembl chr15:117,617,502...117,649,107
JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00535 NCBI chr 3:69,054,749...69,091,366
Ensembl chr 3:69,054,760...69,091,341
JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00535 NCBI chr 7:97,270,698...97,316,578
Ensembl chr 7:97,262,305...97,316,571
JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00535
G GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00535 NCBI chr13:197,130,898...197,158,797
Ensembl chr13:197,130,904...197,161,891
JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00535 NCBI chr 1:225,425,389...225,589,835
Ensembl chr 1:225,402,117...225,589,830
JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00535 NCBI chr 7:12,254,393...12,298,802 JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00535 NCBI chr13:95,742,342...95,820,903
Ensembl chr13:95,742,383...95,819,762
JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00535 NCBI chr 9:62,101,581...62,510,803
Ensembl chr 9:62,101,613...62,499,581
JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00535 NCBI chr 8:44,544,364...44,604,690
Ensembl chr 8:44,544,179...44,604,704
JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00535 NCBI chr 2:51,247,665...51,257,481
Ensembl chr 2:51,241,952...51,257,485
JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00535 NCBI chr  X:110,321,144...110,357,902
Ensembl chr  X:110,321,208...110,357,899
JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00535 NCBI chr18:19,979,983...19,996,432
Ensembl chr18:19,979,955...19,996,429
JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00535 NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,786
JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00535 NCBI chr13:31,048,367...31,053,285
Ensembl chr13:31,046,906...31,053,130
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00535 NCBI chr14:114,062,451...114,167,460
Ensembl chr14:114,062,457...114,168,204
JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00535 NCBI chr10:32,450,986...32,466,893
Ensembl chr10:32,451,064...32,466,839
JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00535 NCBI chr10:59,765,444...59,787,773
Ensembl chr10:59,765,703...59,790,159
JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00535 NCBI chr 8:55,700,700...55,722,982
Ensembl chr 8:55,700,686...55,722,983
JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00535 NCBI chr 1:3,120,418...3,394,236
Ensembl chr 1:3,120,223...3,392,651
JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00535 NCBI chr16:37,897,300...39,406,534
Ensembl chr16:37,897,300...39,154,586
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00535 NCBI chr12:53,458,401...53,477,254 JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00535 NCBI chr 7:78,426,838...78,447,029
Ensembl chr 7:78,424,740...78,446,997
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00535 NCBI chr 8:55,652,194...55,701,077
Ensembl chr 8:55,652,201...55,701,077
JBrowse link
G PRPS1L1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00535 NCBI chr 9:87,161,863...87,164,314
Ensembl chr 9:87,163,252...87,164,208
JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00535 NCBI chr 9:6,026,151...6,065,211
Ensembl chr 9:6,025,063...6,065,116
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00535 NCBI chr 3:126,357,198...126,367,145 JBrowse link
G TXN thioredoxin ISO SMPDB SMP:00535 NCBI chr 1:251,264,180...251,278,000
Ensembl chr 1:251,263,175...251,277,988
JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00535 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,986,528...108,080,151
JBrowse link
adenosine monophosphate deaminase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO SMPDB SMP:00537 NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,495...47,072,245
JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00537 NCBI chr 4:83,103,768...83,205,015
Ensembl chr 4:83,098,285...83,204,453
JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00537 NCBI chr 5:8,027,799...8,045,480
Ensembl chr 5:7,985,700...8,045,510
JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00537 NCBI chr10:17,220,081...17,259,141
Ensembl chr10:17,220,208...17,259,166
JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00537 NCBI chr 1:268,355,032...268,365,659
Ensembl chr 1:268,355,032...268,365,598
JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00537 NCBI chr 4:105,868,834...105,892,171
Ensembl chr 4:105,868,897...105,893,771
JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00537 NCBI chr 6:890,272...893,278
Ensembl chr 6:890,831...893,277
JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00537 NCBI chr14:99,802,939...99,885,562
Ensembl chr14:99,790,300...99,885,160
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00537 NCBI chr15:117,617,584...117,649,063
Ensembl chr15:117,617,502...117,649,107
JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00537 NCBI chr 3:69,054,749...69,091,366
Ensembl chr 3:69,054,760...69,091,341
JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00537 NCBI chr 7:97,270,698...97,316,578
Ensembl chr 7:97,262,305...97,316,571
JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00537
G GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00537 NCBI chr13:197,130,898...197,158,797
Ensembl chr13:197,130,904...197,161,891
JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00537 NCBI chr 1:225,425,389...225,589,835
Ensembl chr 1:225,402,117...225,589,830
JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00537 NCBI chr 7:12,254,393...12,298,802 JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00537 NCBI chr13:95,742,342...95,820,903
Ensembl chr13:95,742,383...95,819,762
JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00537 NCBI chr 9:62,101,581...62,510,803
Ensembl chr 9:62,101,613...62,499,581
JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00537 NCBI chr 8:44,544,364...44,604,690
Ensembl chr 8:44,544,179...44,604,704
JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00537 NCBI chr 2:51,247,665...51,257,481
Ensembl chr 2:51,241,952...51,257,485
JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00537 NCBI chr  X:110,321,144...110,357,902
Ensembl chr  X:110,321,208...110,357,899
JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00537 NCBI chr18:19,979,983...19,996,432
Ensembl chr18:19,979,955...19,996,429
JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00537 NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,786
JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00537 NCBI chr13:31,048,367...31,053,285
Ensembl chr13:31,046,906...31,053,130
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00537 NCBI chr14:114,062,451...114,167,460
Ensembl chr14:114,062,457...114,168,204
JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00537 NCBI chr10:32,450,986...32,466,893
Ensembl chr10:32,451,064...32,466,839
JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00537 NCBI chr10:59,765,444...59,787,773
Ensembl chr10:59,765,703...59,790,159
JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00537 NCBI chr 8:55,700,700...55,722,982
Ensembl chr 8:55,700,686...55,722,983
JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00537 NCBI chr 1:3,120,418...3,394,236
Ensembl chr 1:3,120,223...3,392,651
JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00537 NCBI chr16:37,897,300...39,406,534
Ensembl chr16:37,897,300...39,154,586
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00537 NCBI chr12:53,458,401...53,477,254 JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00537 NCBI chr 7:78,426,838...78,447,029
Ensembl chr 7:78,424,740...78,446,997
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00537 NCBI chr 8:55,652,194...55,701,077
Ensembl chr 8:55,652,201...55,701,077
JBrowse link
G PRPS1L1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00537 NCBI chr 9:87,161,863...87,164,314
Ensembl chr 9:87,163,252...87,164,208
JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00537 NCBI chr 9:6,026,151...6,065,211
Ensembl chr 9:6,025,063...6,065,116
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00537 NCBI chr 3:126,357,198...126,367,145 JBrowse link
G TXN thioredoxin ISO SMPDB SMP:00537 NCBI chr 1:251,264,180...251,278,000
Ensembl chr 1:251,263,175...251,277,988
JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00537 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,986,528...108,080,151
JBrowse link
adenylosuccinate lyase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO SMPDB SMP:00167 NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,495...47,072,245
JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00167 NCBI chr 4:83,103,768...83,205,015
Ensembl chr 4:83,098,285...83,204,453
JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00167 NCBI chr 5:8,027,799...8,045,480
Ensembl chr 5:7,985,700...8,045,510
JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00167 NCBI chr10:17,220,081...17,259,141
Ensembl chr10:17,220,208...17,259,166
JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00167 NCBI chr 1:268,355,032...268,365,659
Ensembl chr 1:268,355,032...268,365,598
JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00167 NCBI chr 4:105,868,834...105,892,171
Ensembl chr 4:105,868,897...105,893,771
JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00167 NCBI chr 6:890,272...893,278
Ensembl chr 6:890,831...893,277
JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00167 NCBI chr14:99,802,939...99,885,562
Ensembl chr14:99,790,300...99,885,160
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00167 NCBI chr15:117,617,584...117,649,063
Ensembl chr15:117,617,502...117,649,107
JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00167 NCBI chr 3:69,054,749...69,091,366
Ensembl chr 3:69,054,760...69,091,341
JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00167 NCBI chr 7:97,270,698...97,316,578
Ensembl chr 7:97,262,305...97,316,571
JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00167
G GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00167 NCBI chr13:197,130,898...197,158,797
Ensembl chr13:197,130,904...197,161,891
JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00167 NCBI chr 1:225,425,389...225,589,835
Ensembl chr 1:225,402,117...225,589,830
JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00167 NCBI chr 7:12,254,393...12,298,802 JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00167 NCBI chr13:95,742,342...95,820,903
Ensembl chr13:95,742,383...95,819,762
JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00167 NCBI chr 9:62,101,581...62,510,803
Ensembl chr 9:62,101,613...62,499,581
JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00167 NCBI chr 8:44,544,364...44,604,690
Ensembl chr 8:44,544,179...44,604,704
JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00167 NCBI chr 2:51,247,665...51,257,481
Ensembl chr 2:51,241,952...51,257,485
JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00167 NCBI chr  X:110,321,144...110,357,902
Ensembl chr  X:110,321,208...110,357,899
JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00167 NCBI chr18:19,979,983...19,996,432
Ensembl chr18:19,979,955...19,996,429
JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00167 NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,786
JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00167 NCBI chr13:31,048,367...31,053,285
Ensembl chr13:31,046,906...31,053,130
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00167 NCBI chr14:114,062,451...114,167,460
Ensembl chr14:114,062,457...114,168,204
JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00167 NCBI chr10:32,450,986...32,466,893
Ensembl chr10:32,451,064...32,466,839
JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00167 NCBI chr10:59,765,444...59,787,773
Ensembl chr10:59,765,703...59,790,159
JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00167 NCBI chr 8:55,700,700...55,722,982
Ensembl chr 8:55,700,686...55,722,983
JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00167 NCBI chr 1:3,120,418...3,394,236
Ensembl chr 1:3,120,223...3,392,651
JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00167 NCBI chr16:37,897,300...39,406,534
Ensembl chr16:37,897,300...39,154,586
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00167 NCBI chr12:53,458,401...53,477,254 JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00167 NCBI chr 7:78,426,838...78,447,029
Ensembl chr 7:78,424,740...78,446,997
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00167 NCBI chr 8:55,652,194...55,701,077
Ensembl chr 8:55,652,201...55,701,077
JBrowse link
G PRPS1L1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00167 NCBI chr 9:87,161,863...87,164,314
Ensembl chr 9:87,163,252...87,164,208
JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00167 NCBI chr 9:6,026,151...6,065,211
Ensembl chr 9:6,025,063...6,065,116
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00167 NCBI chr 3:126,357,198...126,367,145 JBrowse link
G TXN thioredoxin ISO SMPDB SMP:00167 NCBI chr 1:251,264,180...251,278,000
Ensembl chr 1:251,263,175...251,277,988
JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00167 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,986,528...108,080,151
JBrowse link
adrenoleukodystrophy pathway term browser
Symbol Object Name Qualifiers 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:124,485,076...124,501,742
Ensembl chr  X:124,485,235...124,503,195
JBrowse link
G ABCD2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00516 NCBI chr 5:71,123,187...71,180,758
Ensembl chr 5:71,122,320...71,180,723
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00516 NCBI chr15:45,866,858...45,936,327
Ensembl chr15:45,866,851...46,090,099
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00516 NCBI chr 6:159,038,129...159,061,327
Ensembl chr 6:159,036,821...159,061,327
JBrowse link
G CRAT carnitine O-acetyltransferase ISO SMPDB SMP:00516 NCBI chr 1:269,387,430...269,401,334
Ensembl chr 1:269,386,650...269,401,331
JBrowse link
G CROT carnitine O-octanoyltransferase ISO SMPDB SMP:00516 NCBI chr 9:93,263,606...93,308,150
Ensembl chr 9:93,258,619...93,308,151
JBrowse link
G PEX11G peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00516 NCBI chr 2:71,639,289...71,649,445
Ensembl chr 2:71,635,487...71,652,903
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00516 NCBI chr 3:80,757,470...80,791,107
Ensembl chr 3:80,753,908...80,791,056
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00516 NCBI chr 6:70,737,871...70,872,074
Ensembl chr 6:70,737,905...70,872,074
JBrowse link
G SLC25A20 solute carrier family 25 member 20 ISO SMPDB SMP:00516 NCBI chr13:31,523,820...31,553,289
Ensembl chr13:31,523,821...31,553,286
JBrowse link
AGAT deficiency pathway term browser
Symbol Object Name Qualifiers 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 6:77,373,999...77,404,015
Ensembl chr 6:77,373,999...77,393,651
JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,038...32,028,986
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00362, SMP:00507 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,869
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,361
JBrowse link
G CKB creatine kinase B ISO SMPDB SMP:00362, SMP:00507
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,209,999...113,339,078
JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00362, SMP:00507 NCBI chr14:41,931,549...41,950,628
Ensembl chr14:41,929,215...41,950,633
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr10:9,579,301...9,648,416
Ensembl chr10:9,579,301...9,648,414
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00362, SMP:00507 NCBI chr 2:77,076,566...77,079,751
Ensembl chr 2:77,076,566...77,079,766
JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00362, SMP:00507 NCBI chr 1:126,361,968...126,378,705
Ensembl chr 1:126,361,945...126,380,872
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr14:110,608,422...110,635,825
Ensembl chr14:110,608,430...110,635,874
JBrowse link
G LOC110256626 proline dehydrogenase 1, mitochondrial ISO SMPDB SMP:00362, SMP:00507 NCBI chr14:51,624,919...51,644,467 JBrowse link
G NOS1 nitric oxide synthase 1 ISO SMPDB SMP:00362, SMP:00507 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,972
JBrowse link
G OAT ornithine aminotransferase ISO SMPDB SMP:00362, SMP:00507 NCBI chr14:133,808,193...133,830,517 JBrowse link
G OTC ornithine carbamoyltransferase ISO SMPDB SMP:00362, SMP:00507 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,837
JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00362, SMP:00507 NCBI chr 9:8,627,365...8,681,804
Ensembl chr 9:8,627,412...8,667,774
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00362, SMP:00507 NCBI chr10:13,841,755...13,845,900 JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00362, SMP:00507 NCBI chr 1:55,906,508...55,982,094
Ensembl chr 1:55,893,480...55,982,068
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00362, SMP:00507 NCBI chr11:15,494,176...15,551,172
Ensembl chr11:15,494,385...15,559,312
JBrowse link
AICA-ribosuria pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO SMPDB SMP:00168 NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,495...47,072,245
JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00168 NCBI chr 4:83,103,768...83,205,015
Ensembl chr 4:83,098,285...83,204,453
JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00168 NCBI chr 5:8,027,799...8,045,480
Ensembl chr 5:7,985,700...8,045,510
JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00168 NCBI chr10:17,220,081...17,259,141
Ensembl chr10:17,220,208...17,259,166
JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00168 NCBI chr 1:268,355,032...268,365,659
Ensembl chr 1:268,355,032...268,365,598
JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00168 NCBI chr 4:105,868,834...105,892,171
Ensembl chr 4:105,868,897...105,893,771
JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00168 NCBI chr 6:890,272...893,278
Ensembl chr 6:890,831...893,277
JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00168 NCBI chr14:99,802,939...99,885,562
Ensembl chr14:99,790,300...99,885,160
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00168 NCBI chr15:117,617,584...117,649,063
Ensembl chr15:117,617,502...117,649,107
JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00168 NCBI chr 3:69,054,749...69,091,366
Ensembl chr 3:69,054,760...69,091,341
JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00168 NCBI chr 7:97,270,698...97,316,578
Ensembl chr 7:97,262,305...97,316,571
JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00168
G GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00168 NCBI chr13:197,130,898...197,158,797
Ensembl chr13:197,130,904...197,161,891
JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00168 NCBI chr 1:225,425,389...225,589,835
Ensembl chr 1:225,402,117...225,589,830
JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00168 NCBI chr 7:12,254,393...12,298,802 JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00168 NCBI chr13:95,742,342...95,820,903
Ensembl chr13:95,742,383...95,819,762
JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00168 NCBI chr 9:62,101,581...62,510,803
Ensembl chr 9:62,101,613...62,499,581
JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00168 NCBI chr 8:44,544,364...44,604,690
Ensembl chr 8:44,544,179...44,604,704
JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00168 NCBI chr 2:51,247,665...51,257,481
Ensembl chr 2:51,241,952...51,257,485
JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00168 NCBI chr  X:110,321,144...110,357,902
Ensembl chr  X:110,321,208...110,357,899
JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00168 NCBI chr18:19,979,983...19,996,432
Ensembl chr18:19,979,955...19,996,429
JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00168 NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,786
JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00168 NCBI chr13:31,048,367...31,053,285
Ensembl chr13:31,046,906...31,053,130
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00168 NCBI chr14:114,062,451...114,167,460
Ensembl chr14:114,062,457...114,168,204
JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00168 NCBI chr10:32,450,986...32,466,893
Ensembl chr10:32,451,064...32,466,839
JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00168 NCBI chr10:59,765,444...59,787,773
Ensembl chr10:59,765,703...59,790,159
JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00168 NCBI chr 8:55,700,700...55,722,982
Ensembl chr 8:55,700,686...55,722,983
JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00168 NCBI chr 1:3,120,418...3,394,236
Ensembl chr 1:3,120,223...3,392,651
JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00168 NCBI chr16:37,897,300...39,406,534
Ensembl chr16:37,897,300...39,154,586
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00168 NCBI chr12:53,458,401...53,477,254 JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00168 NCBI chr 7:78,426,838...78,447,029
Ensembl chr 7:78,424,740...78,446,997
JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00168 NCBI chr 8:55,652,194...55,701,077
Ensembl chr 8:55,652,201...55,701,077
JBrowse link
G PRPS1L1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00168 NCBI chr 9:87,161,863...87,164,314
Ensembl chr 9:87,163,252...87,164,208
JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00168 NCBI chr 9:6,026,151...6,065,211
Ensembl chr 9:6,025,063...6,065,116
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00168 NCBI chr 3:126,357,198...126,367,145 JBrowse link
G TXN thioredoxin ISO SMPDB SMP:00168 NCBI chr 1:251,264,180...251,278,000
Ensembl chr 1:251,263,175...251,277,988
JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00168 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,986,528...108,080,151
JBrowse link
Alagille syndrome pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JAG1 jagged canonical Notch ligand 1 ISO RGD PMID:15057910 RGD:1334443 NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,252...19,630,085
JBrowse link
alkaptonuria pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00169 NCBI chr12:59,895,476...59,905,900
Ensembl chr12:59,897,496...59,905,967
JBrowse link
G AOC1 amine oxidase copper containing 1 ISO SMPDB SMP:00169 NCBI chr18:6,309,583...6,321,016
Ensembl chr18:6,306,835...6,320,974
JBrowse link
G COMT catechol-O-methyltransferase ISO SMPDB SMP:00169 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,133...51,403,998
JBrowse link
G DBH dopamine beta-hydroxylase ISO SMPDB SMP:00169 NCBI chr 1:273,204,407...273,225,562
Ensembl chr 1:273,204,400...273,225,558
JBrowse link
G DCT dopachrome tautomerase ISO SMPDB SMP:00169 NCBI chr11:63,584,865...63,647,486
Ensembl chr11:63,584,866...63,678,314
JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00169 NCBI chr 9:136,496,364...136,571,220
Ensembl chr 9:136,495,891...136,571,197
JBrowse link
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00169 NCBI chr 7:49,047,833...49,087,790
Ensembl chr 7:49,047,983...49,105,598
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00169 NCBI chr14:110,608,422...110,635,825
Ensembl chr14:110,608,430...110,635,874
JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00169 NCBI chr 7:100,392,217...100,404,025
Ensembl chr 7:100,392,271...100,408,423
JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00169 NCBI chr 3:97,580,756...97,595,033
Ensembl chr 3:97,580,851...97,595,021
JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00169 NCBI chr13:139,660,315...139,710,402
Ensembl chr13:139,660,343...139,710,405
JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00169 NCBI chr14:30,845,608...30,857,658
Ensembl chr14:30,845,613...30,857,667
JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00169 NCBI chr  X:38,930,452...39,006,220 JBrowse link
G MIF macrophage migration inhibitory factor ISO SMPDB SMP:00169 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,862,317
JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00169 NCBI chr12:22,648,396...22,651,520
Ensembl chr12:22,648,397...22,650,002
JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00169 NCBI chr 6:14,571,311...14,583,203
Ensembl chr 6:14,570,587...14,583,177
JBrowse link
G TYR tyrosinase ISO SMPDB SMP:00169 NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290
JBrowse link
Alzheimer's disease pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2M alpha-2-macroglobulin ISO RGD PMID:9697696 RGD:1302534 NCBI chr 5:62,406,928...62,483,690
Ensembl chr 5:62,438,017...62,485,537
JBrowse link
G PSEN2 presenilin 2 ISO DNA:missense mutation:cds:p.N141I (human) RGD PMID:10976645 RGD:9743900 NCBI chr10:14,532,556...14,561,862
Ensembl chr10:14,532,550...14,561,858
JBrowse link
G UBE2D3 ubiquitin conjugating enzyme E2 D3 ISO RGD PMID:11020223 RGD:1302873 NCBI chr 8:118,218,224...118,229,002
Ensembl chr 8:118,203,040...118,233,165
JBrowse link
G UBE2D4 ubiquitin conjugating enzyme E2 D4 (putative) ISO RGD PMID:11020223 RGD:1302873 NCBI chr18:48,735,258...48,756,314
Ensembl chr18:48,733,366...48,756,291
JBrowse link
G UBE2G1 ubiquitin conjugating enzyme E2 G1 ISO RGD PMID:11020223 RGD:1302873 NCBI chr12:50,258,037...50,368,621
Ensembl chr12:50,167,957...50,348,689
JBrowse link
G UBE2I ubiquitin conjugating enzyme E2 I ISO RGD PMID:11020223 RGD:1302873 NCBI chr 3:40,556,556...40,586,382 JBrowse link
G UBE2N ubiquitin conjugating enzyme E2 N ISO RGD PMID:11020223 RGD:1302873 NCBI chr 5:89,673,306...89,716,345 JBrowse link
amyotrophic lateral sclerosis pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC1A2 solute carrier family 1 member 2 ISO RGD PMID:9539131 RGD:1302517 NCBI chr 2:25,603,892...25,771,840
Ensembl chr 2:25,604,950...25,848,276
JBrowse link
G SOD1 superoxide dismutase 1 ISO RGD PMID:8446170, PMID:16583367 RGD:1581209, RGD:737689 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,749
JBrowse link
apparent mineralocorticoid excess syndrome pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00717 NCBI chr18:11,416,065...11,532,846
Ensembl chr18:11,416,068...11,532,728
JBrowse link
G CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 ISO SMPDB SMP:00717 NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478
JBrowse link
G CYP17A1 cytochrome P450 17A1 ISO SMPDB SMP:00717 NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041
JBrowse link
G CYP21A2 cytochrome P450, family 21, subfamily A, polypepide 2 ISO SMPDB SMP:00717 NCBI chr 7:24,086,138...24,089,364
Ensembl chr 7:24,086,217...24,089,374
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00717 NCBI chr 9:133,231,451...133,278,396
Ensembl chr 9:133,231,451...133,278,396
JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00717 NCBI chr 6:28,084,087...28,089,256
Ensembl chr 6:28,083,955...28,089,672
JBrowse link
G HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO SMPDB SMP:00717 NCBI chr 4:101,565,229...101,574,110 JBrowse link
G LOC110260194 cytochrome P450 11B1, mitochondrial ISO SMPDB SMP:00717 NCBI chr 4:1,365,725...1,373,138 JBrowse link
argininosuccinic aciduria pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00003 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,038...32,028,986
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00003 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,869
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00003 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,361
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00003 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,209,999...113,339,078
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00003 NCBI chr 5:21,806,405...21,820,001
Ensembl chr 5:21,806,406...21,820,001
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00003 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00003 NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,198...20,432,068
JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00003 NCBI chr 4:297,747...302,498
Ensembl chr 4:297,748...320,056
JBrowse link
G OTC ornithine carbamoyltransferase ISO SMPDB SMP:00003 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,837
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00003 NCBI chr 3:76,938,102...76,970,519
Ensembl chr 3:76,938,105...76,970,508
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00003 NCBI chr 6:52,647,432...52,661,464
Ensembl chr 6:52,647,432...52,661,459
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00003 NCBI chr15:77,895,935...78,021,930
Ensembl chr15:77,895,935...78,098,383
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00003 NCBI chr11:15,494,176...15,551,172
Ensembl chr11:15,494,385...15,559,312
JBrowse link
aromatic L-amino acid decarboxylase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DBH dopamine beta-hydroxylase ISO SMPDB SMP:00170 NCBI chr 1:273,204,407...273,225,562
Ensembl chr 1:273,204,400...273,225,558
JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00170 NCBI chr 9:136,496,364...136,571,220
Ensembl chr 9:136,495,891...136,571,197
JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00170 NCBI chr12:22,648,396...22,651,520
Ensembl chr12:22,648,397...22,650,002
JBrowse link
G TH tyrosine hydroxylase ISO SMPDB SMP:00170 NCBI chr 2:1,499,628...1,506,180
Ensembl chr 2:1,499,618...1,506,615
JBrowse link
atherosclerosis pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALOX15 arachidonate 15-lipoxygenase ISO RGD PMID:18206890 RGD:5509610 NCBI chr12:52,287,174...52,295,873
Ensembl chr12:52,286,019...52,414,907
JBrowse link
G LDLR low density lipoprotein receptor ISO RGD PMID:12969990 RGD:1581826 NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,823
JBrowse link
G LMNA lamin A/C ISO RGD PMID:15205220 RGD:1580530 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:15662225 RGD:1582524 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
beta-ureidopropionase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK3 adenylate kinase 3 ISO SMPDB SMP:00172 NCBI chr 1:217,236,561...217,263,144
Ensembl chr 1:217,236,482...217,261,370
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00172 NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,495
JBrowse link
G CANT1 calcium activated nucleotidase 1 ISO SMPDB SMP:00172 NCBI chr12:3,188,622...3,207,014
Ensembl chr12:3,188,644...3,216,577
JBrowse link
G CDA cytidine deaminase ISO SMPDB SMP:00172 NCBI chr 6:78,824,248...78,849,154
Ensembl chr 6:78,824,284...78,879,462
JBrowse link
G CMPK2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00172 NCBI chr 3:128,903,395...128,917,873
Ensembl chr 3:128,903,616...128,917,871
JBrowse link
G CTPS1 CTP synthase 1 ISO SMPDB SMP:00172 NCBI chr 6:170,201,749...170,233,105
Ensembl chr 6:170,201,748...170,233,054
JBrowse link
G DCTD dCMP deaminase ISO SMPDB SMP:00172 NCBI chr15:44,466,312...44,492,594
Ensembl chr15:44,466,304...44,492,406
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00172 NCBI chr 6:14,942,898...14,956,000
Ensembl chr 6:14,942,933...14,956,000
JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO SMPDB SMP:00172 NCBI chr 4:119,931,471...120,712,461
Ensembl chr 4:119,931,458...120,712,462
JBrowse link
G DPYS dihydropyrimidinase ISO SMPDB SMP:00172 NCBI chr 4:32,791,152...32,879,489
Ensembl chr 4:32,789,460...32,879,489
JBrowse link
G DUT deoxyuridine triphosphatase ISO SMPDB SMP:00172 NCBI chr 1:123,451,207...123,462,267
Ensembl chr 1:123,451,212...123,462,232
JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00172 NCBI chr 1:225,425,389...225,589,835
Ensembl chr 1:225,402,117...225,589,830
JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00172 NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,786
JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00172 NCBI chr13:31,048,367...31,053,285
Ensembl chr13:31,046,906...31,053,130
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00172 NCBI chr14:114,062,451...114,167,460
Ensembl chr14:114,062,457...114,168,204
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00172 NCBI chr 3:126,357,198...126,367,145 JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00172 NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,757...34,859,780
JBrowse link
G TK1 thymidine kinase 1 ISO SMPDB SMP:00172 NCBI chr12:3,785,997...3,794,824
Ensembl chr12:3,635,220...3,795,917
JBrowse link
G TYMS thymidylate synthetase ISO SMPDB SMP:00172 NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,640,031...105,660,601
JBrowse link
G UCKL1 uridine-cytidine kinase 1 like 1 ISO SMPDB SMP:00172 NCBI chr17:62,785,419...62,796,396
Ensembl chr17:62,785,419...62,807,552
JBrowse link
G UMPS uridine monophosphate synthetase ISO SMPDB SMP:00172 NCBI chr13:135,611,857...135,650,656
Ensembl chr13:135,610,058...135,650,604
JBrowse link
G UPB1 beta-ureidopropionase 1 ISO SMPDB SMP:00172 NCBI chr14:49,533,208...49,561,518
Ensembl chr14:49,533,226...49,565,100
JBrowse link
G UPP2 uridine phosphorylase 2 ISO SMPDB SMP:00172 NCBI chr15:65,088,652...65,131,739
Ensembl chr15:65,088,284...65,131,789
JBrowse link
biotinidase deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTD biotinidase ISO SMPDB SMP:00174 NCBI chr13:2,840,425...2,902,619
Ensembl chr13:2,840,456...2,903,680
JBrowse link
G HLCS holocarboxylase synthetase ISO SMPDB SMP:00174 NCBI chr13:200,406,395...200,618,967
Ensembl chr13:200,407,540...200,608,129
JBrowse link
G SPCS1 signal peptidase complex subunit 1 ISO SMPDB SMP:00174 NCBI chr13:34,839,921...34,841,605
Ensembl chr13:34,839,383...34,841,605
JBrowse link
bipolar disorder pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SSTR5 somatostatin receptor 5 ISO RGD PMID:12192619 RGD:1358589 NCBI chr 3:40,756,465...40,758,111
Ensembl chr 3:40,756,519...40,758,111
JBrowse link
CADASIL pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH3 notch receptor 3 ISO Mutations are predominantly found in the EGF repeats and clustered within the first five RGD PMID:9388399 RGD:1334441 NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
JBrowse link
Canavan disease pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00175 NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00175 NCBI chr 5:8,027,799...8,045,480
Ensembl chr 5:7,985,700...8,045,510
JBrowse link
G ADSS1 adenylosuccinate synthase 1 ISO SMPDB SMP:00175
G ASL argininosuccinate lyase ISO SMPDB SMP:00175 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,869
JBrowse link
G ASNS asparagine synthetase (glutamine-hydrolyzing) ISO SMPDB SMP:00175 NCBI chr 9:77,318,341...77,336,290
Ensembl chr 9:77,318,213...77,509,020
JBrowse link
G ASPA aspartoacylase ISO SMPDB SMP:00175 NCBI chr12:49,612,845...49,630,303
Ensembl chr12:49,610,519...49,641,905
JBrowse link
G ASRGL1 asparaginase and isoaspartyl peptidase 1 ISO SMPDB SMP:00175 NCBI chr 2:9,328,260...9,353,384
Ensembl chr 2:9,328,269...9,353,340
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,361
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00175 NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,495
JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chr15:15,810,497...15,885,706
Ensembl chr15:15,810,628...15,885,706
JBrowse link
G DDO D-aspartate oxidase ISO SMPDB SMP:00175 NCBI chr 1:76,391,112...76,417,147
Ensembl chr 1:76,390,493...76,417,301
JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00175 NCBI chr15:76,991,863...77,034,819
Ensembl chr15:76,991,928...77,034,817
JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00175 NCBI chr 6:54,906,401...54,945,840
Ensembl chr 6:54,906,401...54,946,202
JBrowse link
G NARS1 asparaginyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chr 1:106,911,267...106,933,105
Ensembl chr 1:106,911,277...106,933,118
JBrowse link
carbamoyl phosphate synthetase I deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00002 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,038...32,028,986
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,869
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,361
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,209,999...113,339,078
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chr 5:21,806,405...21,820,001
Ensembl chr 5:21,806,406...21,820,001
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,198...20,432,068
JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00002 NCBI chr 4:297,747...302,498
Ensembl chr 4:297,748...320,056
JBrowse link
G OTC ornithine carbamoyltransferase ISO SMPDB SMP:00002 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,837
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chr 3:76,938,102...76,970,519
Ensembl chr 3:76,938,105...76,970,508
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chr 6:52,647,432...52,661,464
Ensembl chr 6:52,647,432...52,661,459
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chr15:77,895,935...78,021,930
Ensembl chr15:77,895,935...78,098,383
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chr11:15,494,176...15,551,172
Ensembl chr11:15,494,385...15,559,312
JBrowse link
cardiomyopathy pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:15722372 RGD:1582275 NCBI chr12:10,891,445...11,018,617
Ensembl chr12:10,894,932...11,018,641
JBrowse link
cardiovascular system disease pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD14 CD14 molecule ISO RGD PMID:15310678 RGD:1580257 NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,358...142,349,581
JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:15996002 RGD:1580474 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G SOD3 superoxide dismutase 3 ISO RGD PMID:16014615 RGD:1579965 NCBI chr 8:18,796,633...18,802,156
Ensembl chr 8:18,796,636...18,802,154
JBrowse link
carnitine palmitoyltransferase I deficiency pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00538 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00538 NCBI chr15:112,935,631...112,969,381
Ensembl chr15:112,933,498...112,969,578
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00538 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00538 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00538 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00538 NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,401...52,581,755
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00538 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00538 NCBI chr15:45,866,858...45,936,327
Ensembl chr15:45,866,851...46,090,099
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00538 NCBI chr 2:4,250,642...4,293,914
Ensembl chr 2:4,233,099...4,293,984
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00538 NCBI chr 6:159,038,129...159,061,327
Ensembl chr 6:159,036,821...159,061,327
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00538 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00538 NCBI chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00538 NCBI chr 3:112,753,343...112,797,627
Ensembl chr 3:112,752,865...112,797,735
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00538 NCBI chr 3:112,712,894...112,753,121
Ensembl chr 3:112,704,023...112,753,086
JBrowse link
carnitine-acylcarnitine translocase deficiency term browser
Symbol Object Name Qualifiers 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:124,485,076...124,501,742
Ensembl chr  X:124,485,235...124,503,195
JBrowse link
G ABCD2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00517 NCBI chr 5:71,123,187...71,180,758
Ensembl chr 5:71,122,320...71,180,723
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00517 NCBI chr15:45,866,858...45,936,327
Ensembl chr15:45,866,851...46,090,099
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chr 6:159,038,129...159,061,327
Ensembl chr 6:159,036,821...159,061,327
JBrowse link
G CRAT carnitine O-acetyltransferase ISO SMPDB SMP:00517 NCBI chr 1:269,387,430...269,401,334
Ensembl chr 1:269,386,650...269,401,331
JBrowse link
G CROT carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chr 9:93,263,606...93,308,150
Ensembl chr 9:93,258,619...93,308,151
JBrowse link
G PEX11G peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chr 2:71,639,289...71,649,445
Ensembl chr 2:71,635,487...71,652,903
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chr 3:80,757,470...80,791,107
Ensembl chr 3:80,753,908...80,791,056
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00517 NCBI chr 6:70,737,871...70,872,074
Ensembl chr 6:70,737,905...70,872,074
JBrowse link
G SLC25A20 solute carrier family 25 member 20 ISO SMPDB SMP:00517 NCBI chr13:31,523,820...31,553,289
Ensembl chr13:31,523,821...31,553,286
JBrowse link
carnosinemia pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00493 NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00493 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00493 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,357,952...97,381,841
JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO SMPDB SMP:00493 NCBI chr 1:149,523,983...149,564,728
Ensembl chr 1:149,521,510...149,562,528
JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO SMPDB SMP:00493 NCBI chr 4:119,931,471...120,712,461
Ensembl chr 4:119,931,458...120,712,462
JBrowse link
G DPYS dihydropyrimidinase ISO SMPDB SMP:00493 NCBI chr 4:32,791,152...32,879,489
Ensembl chr 4:32,789,460...32,879,489
JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00493 NCBI chr15:76,991,863...77,034,819
Ensembl chr15:76,991,928...77,034,817
JBrowse link
G LOC110256000 membrane primary amine oxidase-like ISO SMPDB SMP:00493 NCBI chr12:19,996,324...20,007,006 JBrowse link
G UPB1 beta-ureidopropionase 1 ISO SMPDB SMP:00493 NCBI chr14:49,533,208...49,561,518
Ensembl chr14:49,533,226...49,565,100
JBrowse link
cerebrotendinous xanthomatosis pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOX2 acyl-CoA oxidase 2 ISO SMPDB SMP:00315 NCBI chr13:40,220,952...40,255,967
Ensembl chr13:40,223,008...40,255,967
JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00315 NCBI chr18:11,416,065...11,532,846
Ensembl chr18:11,416,068...11,532,728
JBrowse link
G AMACR alpha-methylacyl-CoA racemase ISO SMPDB SMP:00315 NCBI chr16:20,005,741...20,023,339
Ensembl chr16:19,952,451...20,023,285
JBrowse link
G CH25H cholesterol 25-hydroxylase ISO SMPDB SMP:00315 NCBI chr14:101,122,318...101,128,622
Ensembl chr14:101,123,381...101,125,593
JBrowse link
G CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr15:120,809,886...120,852,196
Ensembl chr15:120,809,959...120,852,193
JBrowse link
G CYP39A1 cytochrome P450, family 39, subfamily A, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 7:41,345,011...41,425,854
Ensembl chr 7:41,344,804...41,426,343
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr 4:74,343,101...74,372,628
Ensembl chr 4:74,342,856...74,372,638
JBrowse link
G CYP8B1 cytochrome P-450 8B1 ISO SMPDB SMP:00315 NCBI chr13:26,330,233...26,331,738
Ensembl chr13:26,330,171...26,337,379
JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00315 NCBI chr 2:123,313,445...123,401,386
Ensembl chr 2:123,313,448...123,402,731
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00315 NCBI chr 3:17,459,627...17,463,381
Ensembl chr 3:17,459,627...17,463,386
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00315 NCBI chr14:101,131,372...101,254,739
Ensembl chr14:101,123,381...101,254,725
JBrowse link
G LOC100512793 cholesterol 24-hydroxylase ISO SMPDB SMP:00315 NCBI chr 7:120,658,781...120,695,031
Ensembl chr 7:120,661,111...120,695,019
JBrowse link
G LOC100738003 25-hydroxycholesterol 7-alpha-hydroxylase-like ISO SMPDB SMP:00315 NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,035...69,806,496
JBrowse link
G LOC102158534 bile acid-CoA:amino acid N-acyltransferase-like ISO SMPDB SMP:00315 NCBI chr 1:243,065,668...243,084,816
Ensembl chr 1:243,065,795...243,084,287
JBrowse link
G SCP2 sterol carrier protein 2 ISO SMPDB SMP:00315 NCBI chr 6:159,191,045...159,314,985 JBrowse link
G SLC27A5 solute carrier family 27 member 5 ISO SMPDB SMP:00315 NCBI chr 6:63,068,880...63,075,246
Ensembl chr 6:63,065,829...63,075,204
JBrowse link
cholesterol ester storage disease pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00508 NCBI chr 1:7,600,616...7,612,861
Ensembl chr 1:7,598,735...7,612,811
JBrowse link
G CYP51 cytochrome P450, family 51, subfamily A, polypeptide 1 ISO SMPDB SMP:00508 NCBI chr 9:72,057,506...72,079,587
Ensembl chr 9:72,057,511...72,079,444
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00508 NCBI chr 6:157,483,794...157,519,060
Ensembl chr 6:157,483,783...157,579,161
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO SMPDB SMP:00508 NCBI chr  X:42,670,592...42,678,571 JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00508 NCBI chr14:14,976,259...15,010,701
Ensembl chr14:14,967,273...15,104,179
JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00508 NCBI chr 4:94,500,140...94,514,820
Ensembl chr 4:94,489,215...94,518,408
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00508 NCBI chr14:55,907,885...55,924,037
Ensembl chr14:55,880,316...55,923,988
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00508 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,225...84,402,956
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00508 NCBI chr16:27,936,225...27,957,261
Ensembl chr16:27,936,217...27,957,194
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00508 NCBI chr 4:87,720,747...87,743,037
Ensembl chr 4:87,720,118...87,742,992
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00508 NCBI chr14:101,131,372...101,254,739
Ensembl chr14:101,123,381...101,254,725
JBrowse link
G LOC100625049 isopentenyl-diphosphate Delta-isomerase 1 ISO SMPDB SMP:00508 NCBI chr10:68,534,520...68,539,279
Ensembl chr10:68,534,796...68,539,279
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00508
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00508 NCBI chr 8:43,726,834...43,745,784
Ensembl chr 8:43,726,855...43,744,714
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00508 NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,302
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00508 NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,671...41,362,974
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00508 NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,194...123,929,117
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00508 NCBI chr 4:94,861,500...94,913,743
Ensembl chr 4:94,861,694...94,878,921
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00508 NCBI chr 9:48,357,115...48,372,391
Ensembl chr 9:48,357,145...48,372,388
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00508 NCBI chr 9:121,045,211...121,112,393
Ensembl chr 9:121,045,232...121,113,693
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00508 NCBI chr 4:14,669,789...14,700,152
Ensembl chr 4:14,669,791...14,700,126
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00508 NCBI chr 2:7,076,778...7,081,502
Ensembl chr 2:7,076,778...7,081,429
JBrowse link
citrullinemia pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00001 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,038...32,028,986
JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00001 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,869
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00001 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,361
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00001 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,209,999...113,339,078
JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00001 NCBI chr 5:21,806,405...21,820,001
Ensembl chr 5:21,806,406...21,820,001
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00001 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00001 NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,198...20,432,068
JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00001 NCBI chr 4:297,747...302,498
Ensembl chr 4:297,748...320,056
JBrowse link
G OTC ornithine carbamoyltransferase ISO SMPDB SMP:00001 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,837
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00001 NCBI chr 3:76,938,102...76,970,519
Ensembl chr 3:76,938,105...76,970,508
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00001 NCBI chr 6:52,647,432...52,661,464
Ensembl chr 6:52,647,432...52,661,459
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00001 NCBI chr15:77,895,935...78,021,930
Ensembl chr15:77,895,935...78,098,383
JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00001 NCBI chr11:15,494,176...15,551,172
Ensembl chr11:15,494,385...15,559,312
JBrowse link
colorectal cancer pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO RGD PMID:18432252 RGD:2293188 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
G AXIN1 axin 1 ISO RGD PMID:18432252 RGD:2293188 NCBI chr 3:41,344,908...41,393,999
Ensembl chr 3:41,337,071...41,393,997
JBrowse link
G AXIN2 axin 2 ISO RGD PMID:18432252 RGD:2293188 NCBI chr12:12,311,293...12,343,207
Ensembl chr12:12,311,293...12,343,200
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO RGD PMID:18098337 RGD:2298531 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G CTNNB1 catenin beta 1 ISO RGD PMID:18432252 RGD:2293188 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,137,173...25,208,311
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO RGD PMID:16112461 RGD:2306732 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G MLH1 mutL homolog 1 ISO RGD PMID:11900875 RGD:2306714 NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,201...21,877,757
JBrowse link
G MSH2 mutS homolog 2 ISO RGD PMID:11900875 RGD:2306714 NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,628
JBrowse link
G MSH6 mutS homolog 6 ISO RGD PMID:11900875 RGD:2306714 NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,128
JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO RGD PMID:11900875 RGD:2306714 NCBI chr15:94,351,603...94,476,505
Ensembl chr15:94,351,324...94,601,889
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO RGD PMID:11900875 RGD:2306714 NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,113,230...5,145,634
JBrowse link
G SMAD2 SMAD family member 2 ISO RGD PMID:17613544, PMID:18662538 RGD:2306282, RGD:2308865 NCBI chr 1:97,415,360...97,511,388
Ensembl chr 1:97,415,716...97,511,358
JBrowse link
G SMAD3 SMAD family member 3 ISO RGD PMID:17613544 RGD:2306282 NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,083...165,124,454
JBrowse link
G SMAD4 SMAD family member 4 ISO RGD PMID:17613544, PMID:18662538 RGD:2306282, RGD:2308865 NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,514,791...100,628,029
JBrowse link
G SMAD7 SMAD family member 7 ISO RGD PMID:18662538 RGD:2308865 NCBI chr 1:98,512,800...98,543,924
Ensembl chr 1:98,510,229...98,542,382
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO RGD PMID:17613544 RGD:2306282 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO RGD PMID:17613544 RGD:2306282 NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,859,270...240,918,528
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO RGD PMID:17613544, PMID:18662538 RGD:2306282, RGD:2308865 NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,491...16,878,165
JBrowse link
congenital bile acid synthesis defect pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOX2 acyl-CoA oxidase 2 ISO SMPDB SMP:00314, SMP:00318 NCBI chr13:40,220,952...40,255,967
Ensembl chr13:40,223,008...40,255,967
JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr18:11,416,065...11,532,846
Ensembl chr18:11,416,068...11,532,728
JBrowse link
G AMACR alpha-methylacyl-CoA racemase ISO SMPDB SMP:00314, SMP:00318 NCBI chr16:20,005,741...20,023,339
Ensembl chr16:19,952,451...20,023,285
JBrowse link
G CH25H cholesterol 25-hydroxylase ISO SMPDB SMP:00314, SMP:00318 NCBI chr14:101,122,318...101,128,622
Ensembl chr14:101,123,381...101,125,593
JBrowse link
G CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr15:120,809,886...120,852,196
Ensembl chr15:120,809,959...120,852,193
JBrowse link
G CYP39A1 cytochrome P450, family 39, subfamily A, polypeptide 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 7:41,345,011...41,425,854
Ensembl chr 7:41,344,804...41,426,343
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 4:74,343,101...74,372,628
Ensembl chr 4:74,342,856...74,372,638
JBrowse link
G CYP8B1 cytochrome P-450 8B1 ISO SMPDB SMP:00314, SMP:00318 NCBI chr13:26,330,233...26,331,738
Ensembl chr13:26,330,171...26,337,379
JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 2:123,313,445...123,401,386
Ensembl chr 2:123,313,448...123,402,731
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 3:17,459,627...17,463,381
Ensembl chr 3:17,459,627...17,463,386
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00314, SMP:00318 NCBI chr14:101,131,372...101,254,739
Ensembl chr14:101,123,381...101,254,725
JBrowse link
G LOC100512793 cholesterol 24-hydroxylase ISO SMPDB SMP:00314, SMP:00318 NCBI chr 7:120,658,781...120,695,031
Ensembl chr 7:120,661,111...120,695,019
JBrowse link
G LOC100738003 25-hydroxycholesterol 7-alpha-hydroxylase-like ISO SMPDB SMP:00314, SMP:00318 NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,035...69,806,496
JBrowse link
G LOC102158534 bile acid-CoA:amino acid N-acyltransferase-like ISO SMPDB SMP:00314, SMP:00318 NCBI chr 1:243,065,668...243,084,816
Ensembl chr 1:243,065,795...243,084,287
JBrowse link
G SCP2 sterol carrier protein 2 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 6:159,191,045...159,314,985 JBrowse link
G SLC27A5 solute carrier family 27 member 5 ISO SMPDB SMP:00314, SMP:00318 NCBI chr 6:63,068,880...63,075,246
Ensembl chr 6:63,065,829...63,075,204
JBrowse link
congenital hemidysplasia with ichthyosiform erythroderma and limb defects pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00387 NCBI chr 1:7,600,616...7,612,861
Ensembl chr 1:7,598,735...7,612,811
JBrowse link
G CYP51 cytochrome P450, family 51, subfamily A, polypeptide 1 ISO SMPDB SMP:00387 NCBI chr 9:72,057,506...72,079,587
Ensembl chr 9:72,057,511...72,079,444
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00387 NCBI chr 6:157,483,794...157,519,060
Ensembl chr 6:157,483,783...157,579,161
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO SMPDB SMP:00387 NCBI chr  X:42,670,592...42,678,571 JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00387 NCBI chr14:14,976,259...15,010,701
Ensembl chr14:14,967,273...15,104,179
JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00387 NCBI chr 4:94,500,140...94,514,820
Ensembl chr 4:94,489,215...94,518,408
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00387 NCBI chr14:55,907,885...55,924,037
Ensembl chr14:55,880,316...55,923,988
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00387 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,225...84,402,956
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00387 NCBI chr16:27,936,225...27,957,261
Ensembl chr16:27,936,217...27,957,194
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00387 NCBI chr 4:87,720,747...87,743,037
Ensembl chr 4:87,720,118...87,742,992
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00387 NCBI chr14:101,131,372...101,254,739
Ensembl chr14:101,123,381...101,254,725
JBrowse link
G LOC100625049 isopentenyl-diphosphate Delta-isomerase 1 ISO SMPDB SMP:00387 NCBI chr10:68,534,520...68,539,279
Ensembl chr10:68,534,796...68,539,279
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00387
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00387 NCBI chr 8:43,726,834...43,745,784
Ensembl chr 8:43,726,855...43,744,714
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00387 NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,302
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00387 NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,671...41,362,974
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00387 NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,194...123,929,117
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00387 NCBI chr 4:94,861,500...94,913,743
Ensembl chr 4:94,861,694...94,878,921
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00387 NCBI chr 9:48,357,115...48,372,391
Ensembl chr 9:48,357,145...48,372,388
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00387 NCBI chr 9:121,045,211...121,112,393
Ensembl chr 9:121,045,232...121,113,693
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00387 NCBI chr 4:14,669,789...14,700,152
Ensembl chr 4:14,669,791...14,700,126
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00387 NCBI chr 2:7,076,778...7,081,502
Ensembl chr 2:7,076,778...7,081,429
JBrowse link
congenital sucrase-isomaltase deficiency pathway term browser
Symbol Object Name Qualifiers 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 4:118,186,031...118,269,106
Ensembl chr 4:118,176,241...118,268,835
JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00557 NCBI chr13:173,634,401...173,909,646
Ensembl chr13:173,634,454...173,976,255
JBrowse link
G GCK glucokinase ISO SMPDB SMP:00557 NCBI chr18:50,979,167...51,024,500
Ensembl chr18:50,790,472...51,028,917
JBrowse link
G GPI glucose-6-phosphate isomerase ISO SMPDB SMP:00557 NCBI chr 6:44,038,374...44,069,331
Ensembl chr 6:43,933,759...44,069,330
JBrowse link
G GUSB glucuronidase beta ISO SMPDB SMP:00557 NCBI chr 3:16,672,071...16,686,520
Ensembl chr 3:16,671,420...16,689,231
JBrowse link
G GYS2 glycogen synthase 2 ISO SMPDB SMP:00557 NCBI chr 5:51,862,952...51,915,153
Ensembl chr 5:51,862,945...51,916,107
JBrowse link
G HK2 hexokinase 2 ISO SMPDB SMP:00557 NCBI chr 3:68,155,656...68,231,187
Ensembl chr 3:68,145,890...68,231,615
JBrowse link
G LOC100521789 pancreatic alpha-amylase ISO SMPDB SMP:00557 NCBI chr 4:115,206,005...115,255,439 JBrowse link
G MGAM maltase-glucoamylase ISO SMPDB SMP:00557 NCBI chr18:7,871,529...7,997,137
Ensembl chr18:7,871,532...7,970,169
JBrowse link
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00557 NCBI chr 6:148,851,183...148,918,891
Ensembl chr 6:148,851,183...148,925,741
JBrowse link
G PGM2L1 phosphoglucomutase 2 like 1 ISO SMPDB SMP:00557 NCBI chr 9:8,686,976...8,761,721
Ensembl chr 9:8,636,801...8,761,709
JBrowse link
G PYGL glycogen phosphorylase L ISO SMPDB SMP:00557 NCBI chr 1:180,645,849...180,704,124
Ensembl chr 1:180,620,314...180,719,979
JBrowse link
G SI sucrase-isomaltase ISO SMPDB SMP:00557 NCBI chr13:104,296,281...104,379,558
Ensembl chr13:104,296,283...104,379,478
JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00557 NCBI chr 8:30,725,281...30,759,359
Ensembl chr 8:30,725,288...30,759,326
JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00557 NCBI chr 3:77,975,450...78,032,471
Ensembl chr 3:77,975,440...78,031,731
JBrowse link
cystathioninuria pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBS cystathionine beta-synthase ISO SMPDB SMP:00514 NCBI chr13:206,205,942...206,231,363 JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00514 NCBI chr 6:142,454,922...142,486,352
Ensembl chr 6:142,435,690...142,486,367
JBrowse link
cystinuria pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP1 aquaporin 1 (Colton blood group) ISO SMPDB SMP:00723 NCBI chr18:42,063,482...42,076,741 JBrowse link
G AQP2 aquaporin 2 ISO SMPDB SMP:00723 NCBI chr 5:15,862,739...15,868,565
Ensembl chr 5:15,863,303...15,868,565
JBrowse link
G AQP3 aquaporin 3 ISO SMPDB SMP:00723 NCBI chr10:33,045,374...33,050,285
Ensembl chr10:33,045,245...33,051,086
JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00723 NCBI chr 4:104,353,506...104,384,321
Ensembl chr 4:104,353,506...104,384,606
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO SMPDB SMP:00723 NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,291,344...90,396,160
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00723 NCBI chr 6:49,905,851...49,927,437 JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00723 NCBI chr 4:81,912,543...81,937,015
Ensembl chr 4:81,911,558...81,997,714
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00723 NCBI chr12:52,925,697...52,932,638
Ensembl chr12:52,925,693...52,932,637
JBrowse link
G ATP1B3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00723 NCBI chr13:82,680,442...82,727,052 JBrowse link
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00723 NCBI chr  X:98,514,286...98,535,154
Ensembl chr  X:98,514,305...98,535,152
JBrowse link
G CLCNKA chloride channel protein ClC-Ka ISO SMPDB SMP:00723 NCBI chr 6:75,178,914...75,192,670 JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 ISO SMPDB SMP:00723 NCBI chr 9:45,165,314...45,172,440 JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 ISO SMPDB SMP:00723 NCBI chr 8:80,303,172...80,669,050
Ensembl chr 8:80,290,715...80,669,404
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00723 NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612
JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00723 NCBI chr 3:22,832,259...22,902,592
Ensembl chr 3:22,832,262...22,902,063
JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO SMPDB SMP:00723 NCBI chr 6:63,568,171...63,578,623 JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00723 NCBI chr 3:22,977,940...23,013,384
Ensembl chr 3:22,977,947...23,013,384
JBrowse link
G SLC12A1 solute carrier family 12 member 1 ISO SMPDB SMP:00723 NCBI chr 1:123,481,892...123,571,655
Ensembl chr 1:123,481,369...123,571,630
JBrowse link
G SLC12A3 solute carrier family 12 member 3 ISO SMPDB SMP:00723 NCBI chr 6:18,844,752...18,885,497
Ensembl chr 6:18,844,773...18,885,477
JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO SMPDB SMP:00723 NCBI chr 7:80,164,788...80,266,335
Ensembl chr 7:80,161,495...80,268,323
JBrowse link
G SLC14A2 solute carrier family 14 member 2 ISO SMPDB SMP:00723 NCBI chr 1:94,838,955...95,322,748
Ensembl chr 1:95,255,632...95,320,607
JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO SMPDB SMP:00723 NCBI chr 1:217,366,493...217,441,643
Ensembl chr 1:217,366,499...217,441,674
JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO SMPDB SMP:00723 NCBI chr 1:7,289,278...7,323,418
Ensembl chr 1:7,289,831...7,323,146
JBrowse link
G SLC22A6 solute carrier family 22 member 6 ISO SMPDB SMP:00723 NCBI chr 2:8,809,547...8,817,124
Ensembl chr 2:8,802,349...8,817,338
JBrowse link
G SLC38A4 solute carrier family 38 member 4 ISO SMPDB SMP:00723 NCBI chr 5:77,411,610...77,489,542
Ensembl chr 5:77,411,610...77,489,326
JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO SMPDB SMP:00723 NCBI chr 3:96,157,387...96,201,057
Ensembl chr 3:96,157,380...96,215,454
JBrowse link
G SLC3A2 solute carrier family 3 member 2 ISO SMPDB SMP:00723 NCBI chr 2:8,892,071...8,919,070
Ensembl chr 2:8,892,089...8,919,072
JBrowse link
G SLC6A20 solute carrier family 6 member 20 ISO SMPDB SMP:00723 NCBI chr13:28,897,831...28,945,191
Ensembl chr13:28,899,797...28,945,072
JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO SMPDB SMP:00723 NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,940...1,574,288
JBrowse link
G SLC7A6 solute carrier family 7 member 6 ISO SMPDB SMP:00723 NCBI chr 6:28,834,797...28,876,154 JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO SMPDB SMP:00723 NCBI chr 7:76,195,774...76,235,406
Ensembl chr 7:76,144,113...76,236,873
JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO SMPDB SMP:00723 NCBI chr 7:75,854,700...75,921,931
Ensembl chr 7:75,854,882...75,921,931
JBrowse link
G SLC7A9 solute carrier family 7 member 9 ISO SMPDB SMP:00723 NCBI chr 6:42,664,795...42,706,113
Ensembl chr 6:42,664,929...42,714,267
JBrowse link
D-glycericacidemia pathway term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO SMPDB SMP:00529 NCBI chr 7:24,205,930...24,208,430
Ensembl chr 7:24,204,902...24,213,193
JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00529 NCBI chr18:14,593,516...14,752,316
Ensembl chr18:14,593,548...14,752,310
JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00529 NCBI chr12:59,895,476...59,905,900
Ensembl chr12:59,897,496...59,905,967
JBrowse link
G DGKA diacylglycerol kinase alpha ISO SMPDB SMP:00529 NCBI chr 5:21,331,473...21,355,614
Ensembl chr 5:21,331,473...21,355,535
JBrowse link
G GK glycerol kinase ISO SMPDB SMP:00529 NCBI chr  X:26,470,422...26,558,892 JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00529 NCBI chr13:34,433,403...34,440,037
Ensembl chr13:34,433,398...34,440,288
JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00529 NCBI chr14:122,538,600...122,582,390
Ensembl chr14:122,538,600...122,724,131
JBrowse link
G GPD1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00529 NCBI chr 5:16,008,179...16,021,676
Ensembl chr 5:16,007,448...16,017,825
JBrowse link
G GPD2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00529 NCBI chr15:63,592,723...63,728,636
Ensembl chr15:63,592,698...63,728,634
JBrowse link
G LIPC lipase C, hepatic type ISO SMPDB SMP:00529 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,679...113,604,306
JBrowse link
G LPL lipoprotein lipase ISO SMPDB SMP:00529 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00529 NCBI chr16:34,604,367...34,741,524
Ensembl chr16:34,600,719...34,744,437
JBrowse link
G PLPP2 phospholipid phosphatase 2 ISO