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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:lipid metabolism disease pathway
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Accession:PW:0001473 term browser browse the term
Definition:Those diseases and disorders that are caused by deregulation of lipid metabolic pathways. The condition(s) can be inherited or acquired.


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carnitine palmitoyltransferase I deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00538 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00538 NCBI chrNW_004955457:5,266,032...5,300,632
Ensembl chrNW_004955457:5,266,033...5,300,056
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00538 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00538 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00538 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00538 NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00538 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00538 NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00538 NCBI chrNW_004955422:17,105,887...17,159,696
Ensembl chrNW_004955422:17,109,256...17,159,838
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00538 NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00538 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00538 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00538 NCBI chrNW_004955469:8,183,945...8,233,869
Ensembl chrNW_004955469:8,183,945...8,233,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00538 NCBI chrNW_004955469:8,233,980...8,272,149
Ensembl chrNW_004955469:8,233,980...8,274,450
JBrowse link
carnitine-acylcarnitine translocase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO SMPDB SMP:00517 NCBI chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00517 NCBI chrNW_004955505:717,800...769,702
Ensembl chrNW_004955505:721,222...798,470
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00517 NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345
JBrowse link
G Crat carnitine O-acetyltransferase ISO SMPDB SMP:00517 NCBI chrNW_004955570:1,417,608...1,428,720
Ensembl chrNW_004955570:1,417,608...1,428,720
JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chrNW_004955607:379,121...413,394
Ensembl chrNW_004955607:378,439...413,394
JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chrNW_004955563:1,737,560...1,743,854
Ensembl chrNW_004955563:1,737,560...1,743,854
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chrNW_004955424:22,799,568...22,830,718
Ensembl chrNW_004955424:22,799,568...22,830,718
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00517 NCBI chrNW_004955486:2,981,026...3,129,721
Ensembl chrNW_004955486:2,980,700...3,129,721
JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO SMPDB SMP:00517 NCBI chrNW_004955532:902,937...933,675
Ensembl chrNW_004955532:902,937...921,174
JBrowse link
cerebrotendinous xanthomatosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO SMPDB SMP:00315 NCBI chrNW_004955430:1,638,931...1,665,308
Ensembl chrNW_004955430:1,638,431...1,665,141
JBrowse link
G Akr1d1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00315 NCBI chrNW_004955494:4,799,706...4,856,100
Ensembl chrNW_004955494:4,799,450...4,854,696
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00315 NCBI chrNW_004955426:19,570,179...19,580,920
Ensembl chrNW_004955426:19,570,070...19,580,818
JBrowse link
G Baat bile acid-CoA:amino acid N-acyltransferase ISO SMPDB SMP:00315 NCBI chrNW_004955419:24,469,213...24,521,728
Ensembl chrNW_004955419:24,443,172...24,520,467
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004955425:3,763,302...3,764,432 JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00315 NCBI chrNW_004955408:39,041,028...39,136,867
Ensembl chrNW_004955408:39,040,840...39,138,338
JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00315 NCBI chrNW_004955493:7,835,160...7,838,428
Ensembl chrNW_004955493:7,835,160...7,838,428
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00315 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
JBrowse link
G LOC102004889 sterol 26-hydroxylase, mitochondrial ISO SMPDB SMP:00315 NCBI chrNW_004955453:14,601,495...14,647,383
Ensembl chrNW_004955453:14,601,444...14,647,366
JBrowse link
G LOC102006164 24-hydroxycholesterol 7-alpha-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004955437:11,444,780...11,497,268
Ensembl chrNW_004955437:11,444,220...11,497,084
JBrowse link
G LOC102008593 cholesterol 7-alpha-monooxygenase ISO SMPDB SMP:00315 NCBI chrNW_004955454:17,035,105...17,078,854
Ensembl chrNW_004955454:17,036,204...17,042,756
JBrowse link
G LOC102019604 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004955420:27,988,067...27,990,637 JBrowse link
G LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004955444:14,274,818...14,446,068
Ensembl chrNW_004955444:14,275,345...14,444,426
JBrowse link
G LOC102030124 cholesterol 24-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004955438:20,961,621...20,986,260
Ensembl chrNW_004955438:20,961,365...20,985,749
JBrowse link
G Scp2 sterol carrier protein 2 ISO SMPDB SMP:00315 NCBI chrNW_004955464:6,097,241...6,224,287
Ensembl chrNW_004955464:6,094,758...6,224,287
JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00315 NCBI chrNW_004955584:1,112,387...1,121,500
Ensembl chrNW_004955584:1,112,117...1,121,323
JBrowse link
cholesterol ester storage disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00508 NCBI chrNW_004955439:21,123,886...21,142,562
Ensembl chrNW_004955439:21,122,923...21,142,480
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00508 NCBI chrNW_004955464:4,533,928...4,557,893
Ensembl chrNW_004955464:4,533,928...4,558,133
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00508 NCBI chrNW_004955543:92,553...98,370 JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00508 NCBI chrNW_004955403:53,068,011...53,081,499
Ensembl chrNW_004955403:53,067,637...53,081,499
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00508 NCBI chrNW_004955545:1,757,090...1,765,028
Ensembl chrNW_004955545:1,757,418...1,765,028
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00508 NCBI chrNW_004955492:4,582,998...4,593,194
Ensembl chrNW_004955492:4,583,633...4,589,144
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00508 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00508 NCBI chrNW_004955446:18,978,261...18,996,794
Ensembl chrNW_004955446:18,978,102...18,998,951
JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00508 NCBI chrNW_004955462:13,555,488...13,574,506
Ensembl chrNW_004955462:13,557,292...13,574,593
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00508 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
JBrowse link
G LOC102027002 lanosterol 14-alpha demethylase ISO SMPDB SMP:00508 NCBI chrNW_004955432:9,092,923...9,112,615
Ensembl chrNW_004955432:9,092,933...9,112,615
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00508 NCBI chrNW_004955407:42,633,658...42,653,399
Ensembl chrNW_004955407:42,633,658...42,653,399
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00508 NCBI chrNW_004955403:39,991,528...40,009,047
Ensembl chrNW_004955403:39,989,409...40,009,890
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00508 NCBI chrNW_004955541:2,578,584...2,581,823
Ensembl chrNW_004955541:2,579,074...2,581,821
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00508 NCBI chrNW_004955455:8,933,250...8,953,883
Ensembl chrNW_004955455:8,930,125...8,953,894
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00508 NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00508 NCBI chrNW_004955545:1,421,562...1,440,038
Ensembl chrNW_004955545:1,421,562...1,440,038
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00508 NCBI chrNW_004955412:22,274,131...22,288,870
Ensembl chrNW_004955412:22,274,250...22,288,870
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00508 NCBI chrNW_004955406:18,644,351...18,708,666
Ensembl chrNW_004955406:18,655,894...18,706,891
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00508 NCBI chrNW_004955461:121,886...143,389
Ensembl chrNW_004955461:122,528...143,064
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00508 NCBI chrNW_004955422:20,086,994...20,091,707
Ensembl chrNW_004955422:20,086,994...20,091,707
JBrowse link
desmosterolosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00386 NCBI chrNW_004955439:21,123,886...21,142,562
Ensembl chrNW_004955439:21,122,923...21,142,480
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00386 NCBI chrNW_004955464:4,533,928...4,557,893
Ensembl chrNW_004955464:4,533,928...4,558,133
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00386 NCBI chrNW_004955543:92,553...98,370 JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00386 NCBI chrNW_004955403:53,068,011...53,081,499
Ensembl chrNW_004955403:53,067,637...53,081,499
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00386 NCBI chrNW_004955545:1,757,090...1,765,028
Ensembl chrNW_004955545:1,757,418...1,765,028
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00386 NCBI chrNW_004955492:4,582,998...4,593,194
Ensembl chrNW_004955492:4,583,633...4,589,144
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00386 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00386 NCBI chrNW_004955446:18,978,261...18,996,794
Ensembl chrNW_004955446:18,978,102...18,998,951
JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00386 NCBI chrNW_004955462:13,555,488...13,574,506
Ensembl chrNW_004955462:13,557,292...13,574,593
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00386 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
JBrowse link
G LOC102027002 lanosterol 14-alpha demethylase ISO SMPDB SMP:00386 NCBI chrNW_004955432:9,092,923...9,112,615
Ensembl chrNW_004955432:9,092,933...9,112,615
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00386 NCBI chrNW_004955407:42,633,658...42,653,399
Ensembl chrNW_004955407:42,633,658...42,653,399
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00386 NCBI chrNW_004955403:39,991,528...40,009,047
Ensembl chrNW_004955403:39,989,409...40,009,890
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00386 NCBI chrNW_004955541:2,578,584...2,581,823
Ensembl chrNW_004955541:2,579,074...2,581,821
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00386 NCBI chrNW_004955455:8,933,250...8,953,883
Ensembl chrNW_004955455:8,930,125...8,953,894
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00386 NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00386 NCBI chrNW_004955545:1,421,562...1,440,038
Ensembl chrNW_004955545:1,421,562...1,440,038
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00386 NCBI chrNW_004955412:22,274,131...22,288,870
Ensembl chrNW_004955412:22,274,250...22,288,870
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00386 NCBI chrNW_004955406:18,644,351...18,708,666
Ensembl chrNW_004955406:18,655,894...18,706,891
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00386 NCBI chrNW_004955461:121,886...143,389
Ensembl chrNW_004955461:122,528...143,064
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00386 NCBI chrNW_004955422:20,086,994...20,091,707
Ensembl chrNW_004955422:20,086,994...20,091,707
JBrowse link
Fabry disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00525 NCBI chrNW_004955495:3,247,170...3,271,417
Ensembl chrNW_004955495:3,247,083...3,271,720
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00525 NCBI chrNW_004955414:14,741,027...14,846,931
Ensembl chrNW_004955414:14,746,529...14,848,151
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00525 NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00525 NCBI chrNW_004955402:18,945,013...19,024,132
Ensembl chrNW_004955402:18,942,872...19,024,132
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00525 NCBI chrNW_004955413:30,658,472...30,693,948
Ensembl chrNW_004955413:30,660,593...30,679,674
JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00525 NCBI chrNW_004955438:21,300,118...21,313,330
Ensembl chrNW_004955438:21,300,118...21,313,330
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00525 NCBI chrNW_004955506:3,151,133...3,154,613
Ensembl chrNW_004955506:3,151,133...3,154,613
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00525 NCBI chrNW_004955455:4,771,378...4,794,085
Ensembl chrNW_004955455:4,771,346...4,784,142
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00525 NCBI chrNW_004955438:10,667,807...10,704,386
Ensembl chrNW_004955438:10,667,807...10,704,384
JBrowse link
G Gba glucosylceramidase beta ISO SMPDB SMP:00525 NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00525 NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00525 NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00525 NCBI chrNW_004955402:47,092,779...47,130,131
Ensembl chrNW_004955402:47,092,779...47,130,132
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00525 NCBI chrNW_004955414:16,783,996...16,798,368
Ensembl chrNW_004955414:16,788,171...16,798,535
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00525 NCBI chrNW_004955446:12,201,678...12,279,992
Ensembl chrNW_004955446:12,229,395...12,279,737
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00525 NCBI chrNW_004955425:5,507,905...5,819,357
Ensembl chrNW_004955425:5,784,751...5,822,488
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00525 NCBI chrNW_004955437:20,489,641...20,547,105
Ensembl chrNW_004955437:20,488,330...20,547,171
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00525 NCBI chrNW_004955453:11,244,077...11,361,990
Ensembl chrNW_004955453:11,242,647...11,359,569
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00525 NCBI chrNW_004955559:1,921,479...1,929,450
Ensembl chrNW_004955559:1,917,301...1,928,493
JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00525 NCBI chrNW_004955515:57,711...161,012
Ensembl chrNW_004955515:57,711...161,611
JBrowse link
G Sptlc2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00525 NCBI chrNW_004955438:1,385,431...1,491,534
Ensembl chrNW_004955438:1,385,431...1,491,578
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00525 NCBI chrNW_004955419:15,417,468...15,451,936
Ensembl chrNW_004955419:15,416,796...15,451,936
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00525 NCBI chrNW_004955428:24,800,854...24,864,904
Ensembl chrNW_004955428:24,800,854...24,865,378
JBrowse link
familial lipoprotein lipase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO SMPDB SMP:00530 NCBI chrNW_004955437:633,522...642,659 JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00530 NCBI chrNW_004955467:96,140...105,738
Ensembl chrNW_004955467:96,140...105,738
JBrowse link
G Dgka diacylglycerol kinase alpha ISO SMPDB SMP:00530 NCBI chrNW_004955458:3,517,519...3,544,651
Ensembl chrNW_004955458:3,524,542...3,544,374
JBrowse link
G Gk glycerol kinase ISO SMPDB SMP:00530 NCBI chrNW_004955531:106,761...183,347 JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00530 NCBI chrNW_004955532:3,933,964...3,939,858
Ensembl chrNW_004955532:3,936,160...3,942,868
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00530 NCBI chrNW_004955431:17,291,890...17,363,611
Ensembl chrNW_004955431:17,291,270...17,363,714
JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00530 NCBI chrNW_004955547:676,661...683,906
Ensembl chrNW_004955547:676,342...690,777
JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00530 NCBI chrNW_004955449:16,695,855...16,804,184
Ensembl chrNW_004955449:16,695,435...16,802,908
JBrowse link
G Lipc lipase C, hepatic type ISO SMPDB SMP:00530 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766
JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00530 NCBI chrNW_004955403:43,646,084...43,672,116
Ensembl chrNW_004955403:43,646,084...43,673,967
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00530 NCBI chrNW_004955446:12,201,678...12,279,992
Ensembl chrNW_004955446:12,229,395...12,279,737
JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00530 NCBI chrNW_004955495:7,307,079...7,310,898
Ensembl chrNW_004955495:7,307,079...7,310,955
JBrowse link
Gaucher's disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00349 NCBI chrNW_004955495:3,247,170...3,271,417
Ensembl chrNW_004955495:3,247,083...3,271,720
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00349 NCBI chrNW_004955414:14,741,027...14,846,931
Ensembl chrNW_004955414:14,746,529...14,848,151
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00349 NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00349 NCBI chrNW_004955402:18,945,013...19,024,132
Ensembl chrNW_004955402:18,942,872...19,024,132
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00349 NCBI chrNW_004955413:30,658,472...30,693,948
Ensembl chrNW_004955413:30,660,593...30,679,674
JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00349 NCBI chrNW_004955438:21,300,118...21,313,330
Ensembl chrNW_004955438:21,300,118...21,313,330
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00349 NCBI chrNW_004955506:3,151,133...3,154,613
Ensembl chrNW_004955506:3,151,133...3,154,613
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00349 NCBI chrNW_004955455:4,771,378...4,794,085
Ensembl chrNW_004955455:4,771,346...4,784,142
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00349 NCBI chrNW_004955438:10,667,807...10,704,386
Ensembl chrNW_004955438:10,667,807...10,704,384
JBrowse link
G Gba glucosylceramidase beta ISO SMPDB SMP:00349 NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00349 NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00349 NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00349 NCBI chrNW_004955402:47,092,779...47,130,131
Ensembl chrNW_004955402:47,092,779...47,130,132
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00349 NCBI chrNW_004955414:16,783,996...16,798,368
Ensembl chrNW_004955414:16,788,171...16,798,535
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00349 NCBI chrNW_004955446:12,201,678...12,279,992
Ensembl chrNW_004955446:12,229,395...12,279,737
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00349 NCBI chrNW_004955425:5,507,905...5,819,357
Ensembl chrNW_004955425:5,784,751...5,822,488
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00349 NCBI chrNW_004955437:20,489,641...20,547,105
Ensembl chrNW_004955437:20,488,330...20,547,171
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00349 NCBI chrNW_004955453:11,244,077...11,361,990
Ensembl chrNW_004955453:11,242,647...11,359,569
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00349 NCBI chrNW_004955559:1,921,479...1,929,450
Ensembl chrNW_004955559:1,917,301...1,928,493
JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00349 NCBI chrNW_004955515:57,711...161,012
Ensembl chrNW_004955515:57,711...161,611
JBrowse link
G Sptlc2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00349 NCBI chrNW_004955438:1,385,431...1,491,534
Ensembl chrNW_004955438:1,385,431...1,491,578
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00349 NCBI chrNW_004955419:15,417,468...15,451,936
Ensembl chrNW_004955419:15,416,796...15,451,936
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00349 NCBI chrNW_004955428:24,800,854...24,864,904
Ensembl chrNW_004955428:24,800,854...24,865,378
JBrowse link
hypercholesterolemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00209 NCBI chrNW_004955439:21,123,886...21,142,562
Ensembl chrNW_004955439:21,122,923...21,142,480
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00209 NCBI chrNW_004955464:4,533,928...4,557,893
Ensembl chrNW_004955464:4,533,928...4,558,133
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00209 NCBI chrNW_004955543:92,553...98,370 JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00209 NCBI chrNW_004955403:53,068,011...53,081,499
Ensembl chrNW_004955403:53,067,637...53,081,499
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00209 NCBI chrNW_004955545:1,757,090...1,765,028
Ensembl chrNW_004955545:1,757,418...1,765,028
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00209 NCBI chrNW_004955492:4,582,998...4,593,194
Ensembl chrNW_004955492:4,583,633...4,589,144
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00209 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00209 NCBI chrNW_004955446:18,978,261...18,996,794
Ensembl chrNW_004955446:18,978,102...18,998,951
JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00209 NCBI chrNW_004955462:13,555,488...13,574,506
Ensembl chrNW_004955462:13,557,292...13,574,593
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00209 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
JBrowse link
G LOC102027002 lanosterol 14-alpha demethylase ISO SMPDB SMP:00209 NCBI chrNW_004955432:9,092,923...9,112,615
Ensembl chrNW_004955432:9,092,933...9,112,615
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00209 NCBI chrNW_004955407:42,633,658...42,653,399
Ensembl chrNW_004955407:42,633,658...42,653,399
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00209 NCBI chrNW_004955403:39,991,528...40,009,047
Ensembl chrNW_004955403:39,989,409...40,009,890
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00209 NCBI chrNW_004955541:2,578,584...2,581,823
Ensembl chrNW_004955541:2,579,074...2,581,821
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00209 NCBI chrNW_004955455:8,933,250...8,953,883
Ensembl chrNW_004955455:8,930,125...8,953,894
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00209 NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00209 NCBI chrNW_004955545:1,421,562...1,440,038
Ensembl chrNW_004955545:1,421,562...1,440,038
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00209 NCBI chrNW_004955412:22,274,131...22,288,870
Ensembl chrNW_004955412:22,274,250...22,288,870
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00209 NCBI chrNW_004955406:18,644,351...18,708,666
Ensembl chrNW_004955406:18,655,894...18,706,891
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00209 NCBI chrNW_004955461:121,886...143,389
Ensembl chrNW_004955461:122,528...143,064
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00209 NCBI chrNW_004955422:20,086,994...20,091,707
Ensembl chrNW_004955422:20,086,994...20,091,707
JBrowse link
medium chain acyl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00542 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00542 NCBI chrNW_004955457:5,266,032...5,300,632
Ensembl chrNW_004955457:5,266,033...5,300,056
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00542 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00542 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00542 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00542 NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00542 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00542 NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00542 NCBI chrNW_004955422:17,105,887...17,159,696
Ensembl chrNW_004955422:17,109,256...17,159,838
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00542 NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00542 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00542 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00542 NCBI chrNW_004955469:8,183,945...8,233,869
Ensembl chrNW_004955469:8,183,945...8,233,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00542 NCBI chrNW_004955469:8,233,980...8,272,149
Ensembl chrNW_004955469:8,233,980...8,274,450
JBrowse link
metachromatic leukodystrophy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00347 NCBI chrNW_004955495:3,247,170...3,271,417
Ensembl chrNW_004955495:3,247,083...3,271,720
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00347 NCBI chrNW_004955414:14,741,027...14,846,931
Ensembl chrNW_004955414:14,746,529...14,848,151
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00347 NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00347 NCBI chrNW_004955402:18,945,013...19,024,132
Ensembl chrNW_004955402:18,942,872...19,024,132
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00347 NCBI chrNW_004955413:30,658,472...30,693,948
Ensembl chrNW_004955413:30,660,593...30,679,674
JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00347 NCBI chrNW_004955438:21,300,118...21,313,330
Ensembl chrNW_004955438:21,300,118...21,313,330
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00347 NCBI chrNW_004955506:3,151,133...3,154,613
Ensembl chrNW_004955506:3,151,133...3,154,613
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00347 NCBI chrNW_004955455:4,771,378...4,794,085
Ensembl chrNW_004955455:4,771,346...4,784,142
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00347 NCBI chrNW_004955438:10,667,807...10,704,386
Ensembl chrNW_004955438:10,667,807...10,704,384
JBrowse link
G Gba glucosylceramidase beta ISO SMPDB SMP:00347 NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00347 NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00347 NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00347 NCBI chrNW_004955402:47,092,779...47,130,131
Ensembl chrNW_004955402:47,092,779...47,130,132
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00347 NCBI chrNW_004955414:16,783,996...16,798,368
Ensembl chrNW_004955414:16,788,171...16,798,535
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00347 NCBI chrNW_004955446:12,201,678...12,279,992
Ensembl chrNW_004955446:12,229,395...12,279,737
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00347 NCBI chrNW_004955425:5,507,905...5,819,357
Ensembl chrNW_004955425:5,784,751...5,822,488
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00347 NCBI chrNW_004955437:20,489,641...20,547,105
Ensembl chrNW_004955437:20,488,330...20,547,171
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00347 NCBI chrNW_004955453:11,244,077...11,361,990
Ensembl chrNW_004955453:11,242,647...11,359,569
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00347 NCBI chrNW_004955559:1,921,479...1,929,450
Ensembl chrNW_004955559:1,917,301...1,928,493
JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00347 NCBI chrNW_004955515:57,711...161,012
Ensembl chrNW_004955515:57,711...161,611
JBrowse link
G Sptlc2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00347 NCBI chrNW_004955438:1,385,431...1,491,534
Ensembl chrNW_004955438:1,385,431...1,491,578
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00347 NCBI chrNW_004955419:15,417,468...15,451,936
Ensembl chrNW_004955419:15,416,796...15,451,936
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00347 NCBI chrNW_004955428:24,800,854...24,864,904
Ensembl chrNW_004955428:24,800,854...24,865,378
JBrowse link
short-chain acyl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00235 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00235 NCBI chrNW_004955457:5,266,032...5,300,632
Ensembl chrNW_004955457:5,266,033...5,300,056
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00235 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00235 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00235 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00235 NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00235 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00235 NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00235 NCBI chrNW_004955422:17,105,887...17,159,696
Ensembl chrNW_004955422:17,109,256...17,159,838
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00235 NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00235 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00235 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00235 NCBI chrNW_004955469:8,183,945...8,233,869
Ensembl chrNW_004955469:8,183,945...8,233,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00235 NCBI chrNW_004955469:8,233,980...8,272,149
Ensembl chrNW_004955469:8,233,980...8,274,450
JBrowse link
Smith-Lemli-Opitz Syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00389 NCBI chrNW_004955439:21,123,886...21,142,562
Ensembl chrNW_004955439:21,122,923...21,142,480
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00389 NCBI chrNW_004955464:4,533,928...4,557,893
Ensembl chrNW_004955464:4,533,928...4,558,133
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00389 NCBI chrNW_004955543:92,553...98,370 JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00389 NCBI chrNW_004955403:53,068,011...53,081,499
Ensembl chrNW_004955403:53,067,637...53,081,499
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00389 NCBI chrNW_004955545:1,757,090...1,765,028
Ensembl chrNW_004955545:1,757,418...1,765,028
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00389 NCBI chrNW_004955492:4,582,998...4,593,194
Ensembl chrNW_004955492:4,583,633...4,589,144
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00389 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00389 NCBI chrNW_004955446:18,978,261...18,996,794
Ensembl chrNW_004955446:18,978,102...18,998,951
JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00389 NCBI chrNW_004955462:13,555,488...13,574,506
Ensembl chrNW_004955462:13,557,292...13,574,593
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00389 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
JBrowse link
G LOC102027002 lanosterol 14-alpha demethylase ISO SMPDB SMP:00389 NCBI chrNW_004955432:9,092,923...9,112,615
Ensembl chrNW_004955432:9,092,933...9,112,615
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00389 NCBI chrNW_004955407:42,633,658...42,653,399
Ensembl chrNW_004955407:42,633,658...42,653,399
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00389 NCBI chrNW_004955403:39,991,528...40,009,047
Ensembl chrNW_004955403:39,989,409...40,009,890
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00389 NCBI chrNW_004955541:2,578,584...2,581,823
Ensembl chrNW_004955541:2,579,074...2,581,821
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00389 NCBI chrNW_004955455:8,933,250...8,953,883
Ensembl chrNW_004955455:8,930,125...8,953,894
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00389 NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00389 NCBI chrNW_004955545:1,421,562...1,440,038
Ensembl chrNW_004955545:1,421,562...1,440,038
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00389 NCBI chrNW_004955412:22,274,131...22,288,870
Ensembl chrNW_004955412:22,274,250...22,288,870
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00389 NCBI chrNW_004955406:18,644,351...18,708,666
Ensembl chrNW_004955406:18,655,894...18,706,891
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00389 NCBI chrNW_004955461:121,886...143,389
Ensembl chrNW_004955461:122,528...143,064
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00389 NCBI chrNW_004955422:20,086,994...20,091,707
Ensembl chrNW_004955422:20,086,994...20,091,707
JBrowse link
trifunctional protein deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00545 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00545 NCBI chrNW_004955457:5,266,032...5,300,632
Ensembl chrNW_004955457:5,266,033...5,300,056
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00545 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00545 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00545 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00545 NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00545 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00545 NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00545 NCBI chrNW_004955422:17,105,887...17,159,696
Ensembl chrNW_004955422:17,109,256...17,159,838
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00545 NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00545 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00545 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00545 NCBI chrNW_004955469:8,183,945...8,233,869
Ensembl chrNW_004955469:8,183,945...8,233,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00545 NCBI chrNW_004955469:8,233,980...8,272,149
Ensembl chrNW_004955469:8,233,980...8,274,450
JBrowse link
very long-chain acyl-CoA dehydrogenase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00540 NCBI chrNW_004955402:34,857,317...34,885,169
Ensembl chrNW_004955402:34,857,317...34,885,169
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00540 NCBI chrNW_004955457:5,266,032...5,300,632
Ensembl chrNW_004955457:5,266,033...5,300,056
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00540 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00540 NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00540 NCBI chrNW_004955477:1,177,704...1,213,347
Ensembl chrNW_004955477:1,177,680...1,213,347
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00540 NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00540 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00540 NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00540 NCBI chrNW_004955422:17,105,887...17,159,696
Ensembl chrNW_004955422:17,109,256...17,159,838
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00540 NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00540 NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00540 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00540 NCBI chrNW_004955469:8,183,945...8,233,869
Ensembl chrNW_004955469:8,183,945...8,233,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00540 NCBI chrNW_004955469:8,233,980...8,272,149
Ensembl chrNW_004955469:8,233,980...8,274,450
JBrowse link
Wolman disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955439:21,123,886...21,142,562
Ensembl chrNW_004955439:21,122,923...21,142,480
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955464:4,533,928...4,557,893
Ensembl chrNW_004955464:4,533,928...4,558,133
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955543:92,553...98,370 JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955403:53,068,011...53,081,499
Ensembl chrNW_004955403:53,067,637...53,081,499
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955545:1,757,090...1,765,028
Ensembl chrNW_004955545:1,757,418...1,765,028
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955492:4,582,998...4,593,194
Ensembl chrNW_004955492:4,583,633...4,589,144
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955446:18,978,261...18,996,794
Ensembl chrNW_004955446:18,978,102...18,998,951
JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955462:13,555,488...13,574,506
Ensembl chrNW_004955462:13,557,292...13,574,593
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
JBrowse link
G LOC102027002 lanosterol 14-alpha demethylase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955432:9,092,923...9,112,615
Ensembl chrNW_004955432:9,092,933...9,112,615
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955407:42,633,658...42,653,399
Ensembl chrNW_004955407:42,633,658...42,653,399
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955403:39,991,528...40,009,047
Ensembl chrNW_004955403:39,989,409...40,009,890
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955541:2,578,584...2,581,823
Ensembl chrNW_004955541:2,579,074...2,581,821
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955455:8,933,250...8,953,883
Ensembl chrNW_004955455:8,930,125...8,953,894
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955545:1,421,562...1,440,038
Ensembl chrNW_004955545:1,421,562...1,440,038
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955412:22,274,131...22,288,870
Ensembl chrNW_004955412:22,274,250...22,288,870
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955406:18,644,351...18,708,666
Ensembl chrNW_004955406:18,655,894...18,706,891
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955461:121,886...143,389
Ensembl chrNW_004955461:122,528...143,064
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004955422:20,086,994...20,091,707
Ensembl chrNW_004955422:20,086,994...20,091,707
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 3928
    disease pathway 675
      nutritional and metabolic disease pathway 546
        metabolic disease pathway 514
          lipid metabolism disease pathway 92
            hypercholesterolemia pathway 21
            inborn error of lipid metabolism pathway + 92
            xanthomatosis pathway + 16
paths to the root