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PATHWAY ONTOLOGY - ANNOTATIONS

The Pathway Ontology (PW), is currently being developed at the Rat Genome Database. For more information about this vocabulary, please see Petri et al. The rat genome database pathway portal. Database (Oxford). 2011 Apr 8;2011:bar010. Print 2011 or contact us (http://rgd.mcw.edu/contact/index.shtml).

Term:inborn error of lipid metabolism pathway
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Accession:PW:0001643 term browser browse the term
Definition:Those diseases that are caused by inborn errors of lipid metabolism. The mutations can disrupt one or several pathways.
Synonyms:exact_synonym: inborn error of lipid metabolism disease pathway


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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_004936497:13,242,644...13,269,007 JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00538 NCBI chrNW_004936845:66,674...96,248 JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00538 NCBI chrNW_004936571:2,761,254...2,797,045 JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00538 NCBI chrNW_004936668:257,214...272,089 JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00538 NCBI chrNW_004936486:11,668,099...11,707,946 JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00538 NCBI chrNW_004936595:514,883...520,223 JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00538 NCBI chrNW_004936551:594,647...626,016 JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00538 NCBI chrNW_004936554:4,425,518...4,484,853 JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00538 NCBI chrNW_004936599:1,491,934...1,535,101 JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00538 NCBI chrNW_004936522:7,858,172...7,875,679 JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00538 NCBI chrNW_004936486:19,488,619...19,496,583 JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00538 NCBI chrNW_004936659:1,955,601...1,961,925 JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00538 NCBI chrNW_004936493:6,182,786...6,224,601 JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00538 NCBI chrNW_004936493:6,139,717...6,182,792 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_004936809:615,133...634,618 JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00517 NCBI chrNW_004936607:1,292,964...1,345,671 JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00517 NCBI chrNW_004936554:4,425,518...4,484,853 JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chrNW_004936522:7,858,172...7,875,679 JBrowse link
G Crat carnitine O-acetyltransferase ISO SMPDB SMP:00517 NCBI chrNW_004936487:16,523,571...16,537,242 JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chrNW_004936763:1,425,394...1,462,638 JBrowse link
G LOC101959362 peroxisomal membrane protein PEX14 ISO SMPDB SMP:00517 NCBI chrNW_004936623:4,313,186...4,462,462 JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chrNW_004936588:4,574,220...4,580,195 JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chrNW_004936491:6,530,385...6,559,706 JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO SMPDB SMP:00517 NCBI chrNW_004936529:607,035...631,872 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_004936473:2,494,568...2,525,956 JBrowse link
G Akr1d1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00315 NCBI chrNW_004936592:2,486,219...2,522,796 JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00315 NCBI chrNW_004936518:7,072,436...7,088,927 JBrowse link
G Baat bile acid-CoA:amino acid N-acyltransferase ISO SMPDB SMP:00315 NCBI chrNW_004936524:9,536,032...9,544,901 JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004936601:5,015,922...5,016,942 JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00315 NCBI chrNW_004936715:2,357,215...2,446,601 JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00315 NCBI chrNW_004936501:13,363,630...13,367,553 JBrowse link
G LOC101955077 cytochrome P450 7B1 ISO SMPDB SMP:00315 NCBI chrNW_004936496:8,900,320...9,072,109 JBrowse link
G LOC101961079 cholesterol 24-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004936604:3,451,853...3,490,688 JBrowse link
G LOC101963150 sterol 26-hydroxylase, mitochondrial ISO SMPDB SMP:00315 NCBI chrNW_004936569:1,213,700...1,250,181 JBrowse link
G LOC101970910 cytochrome P450 7A1 ISO SMPDB SMP:00315 NCBI chrNW_004936496:4,599,138...4,605,653 JBrowse link
G LOC101972335 24-hydroxycholesterol 7-alpha-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004936476:13,697,598...13,819,362 JBrowse link
G LOC101977223 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004936695:2,263,868...2,265,373 JBrowse link
G Scp2 sterol carrier protein 2 ISO SMPDB SMP:00315 NCBI chrNW_004936522:8,004,503...8,110,995 JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00315 NCBI chrNW_004937062:90,217...98,562 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_004936489:11,255,871...11,273,848 JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00508 NCBI chrNW_004936522:6,423,561...6,447,363 JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00508 NCBI chrNW_004936628:3,599,435...3,600,061 JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00508 NCBI chrNW_004936580:4,799,354...4,808,406 JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00508 NCBI chrNW_004936484:17,104,437...17,115,897 JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00508 NCBI chrNW_004936549:1,378,536...1,400,501 JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00508 NCBI chrNW_004936480:18,862,288...18,882,614 JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00508 NCBI chrNW_004936831:951,603...976,159 JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00508 NCBI chrNW_004936484:13,054,155...13,061,935 JBrowse link
G LOC101955024 lanosterol 14-alpha demethylase ISO SMPDB SMP:00508 NCBI chrNW_004936621:2,209,255...2,232,404 JBrowse link
G LOC101964999 EBP cholestenol delta-isomerase ISO SMPDB SMP:00508 NCBI chrNW_004936721:508,716...515,968 JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00508 NCBI chrNW_004936778:323,120...351,100 JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00508 NCBI chrNW_004936555:664,171...678,082 JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00508 NCBI chrNW_004936641:1,030,465...1,035,967 JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00508 NCBI chrNW_004936769:1,274,595...1,295,186 JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00508 NCBI chrNW_004936714:246,574...273,930 JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00508 NCBI chrNW_004936580:4,473,554...4,482,396 JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00508 NCBI chrNW_004936542:6,046,425...6,062,825 JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00508 NCBI chrNW_004936481:9,614,605...9,669,705 JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00508 NCBI chrNW_004936470:22,726,793...22,752,429 JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00508 NCBI chrNW_004936599:4,253,725...4,258,198 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_004936489:11,255,871...11,273,848 JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00386 NCBI chrNW_004936522:6,423,561...6,447,363 JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936628:3,599,435...3,600,061 JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00386 NCBI chrNW_004936580:4,799,354...4,808,406 JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936484:17,104,437...17,115,897 JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00386 NCBI chrNW_004936549:1,378,536...1,400,501 JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936480:18,862,288...18,882,614 JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00386 NCBI chrNW_004936831:951,603...976,159 JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936484:13,054,155...13,061,935 JBrowse link
G LOC101955024 lanosterol 14-alpha demethylase ISO SMPDB SMP:00386 NCBI chrNW_004936621:2,209,255...2,232,404 JBrowse link
G LOC101964999 EBP cholestenol delta-isomerase ISO SMPDB SMP:00386 NCBI chrNW_004936721:508,716...515,968 JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00386 NCBI chrNW_004936778:323,120...351,100 JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936555:664,171...678,082 JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00386 NCBI chrNW_004936641:1,030,465...1,035,967 JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00386 NCBI chrNW_004936769:1,274,595...1,295,186 JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00386 NCBI chrNW_004936714:246,574...273,930 JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00386 NCBI chrNW_004936580:4,473,554...4,482,396 JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00386 NCBI chrNW_004936542:6,046,425...6,062,825 JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936481:9,614,605...9,669,705 JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00386 NCBI chrNW_004936470:22,726,793...22,752,429 JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00386 NCBI chrNW_004936599:4,253,725...4,258,198 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_004936588:3,688,244...3,705,831 JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00525 NCBI chrNW_004936498:5,496,991...5,653,206 JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00525 NCBI chrNW_004936629:187,281...205,493 JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00525 NCBI chrNW_004936682:1,535,617...1,590,723 JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00525 NCBI chrNW_004936629:3,304,236...3,346,264 JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00525 NCBI chrNW_004936604:3,821,672...3,839,975 JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00525 NCBI chrNW_004936594:3,855,071...3,864,034 JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00525 NCBI chrNW_004936904:142,576...158,606 JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00525 NCBI chrNW_004936488:15,444,184...15,519,395 JBrowse link
G Gba glucosylceramidase beta ISO SMPDB SMP:00525 NCBI chrNW_004936580:4,715,869...4,720,752 JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00525 NCBI chrNW_004936813:474,938...484,753 JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00525 NCBI chrNW_004936473:23,348,431...23,440,271 JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00525 NCBI chrNW_004936497:2,169,982...2,199,600 JBrowse link
G LOC101967158 serine palmitoyltransferase 2 ISO SMPDB SMP:00525 NCBI chrNW_004936488:6,313,189...6,404,425 JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00525 NCBI chrNW_004936498:3,897,511...3,915,013 JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00525 NCBI chrNW_004936480:12,265,304...12,357,747 JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00525 NCBI chrNW_004936735:1,702,754...1,984,141 JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00525 NCBI chrNW_004936521:7,850,370...7,899,998 JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00525 NCBI chrNW_004936569:4,405,804...4,518,637 JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00525 NCBI chrNW_004936664:2,668,708...2,676,608 JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00525 NCBI chrNW_004936796:886,946...948,254 JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00525 NCBI chrNW_004936559:1,475,684...1,513,273 JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00525 NCBI chrNW_004936563:5,251,451...5,305,683 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_004936727:1,425,784...1,434,921 JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00530 NCBI chrNW_004936579:1,312,175...1,328,397 JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00530 NCBI chrNW_004936881:71,047...77,543 JBrowse link
G Dgka diacylglycerol kinase alpha ISO SMPDB SMP:00530 NCBI chrNW_004936646:351,589...367,985 JBrowse link
G Gk glycerol kinase ISO SMPDB SMP:00530 NCBI chrNW_004936553:6,707,148...6,787,245 JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00530 NCBI chrNW_004936529:3,627,194...3,635,568 JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00530 NCBI chrNW_004936486:2,754,753...2,823,600 JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00530 NCBI chrNW_004936512:7,762,325...7,770,007 JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00530 NCBI chrNW_004936469:21,705,421...21,833,143 JBrowse link
G Lipc lipase C, hepatic type ISO SMPDB SMP:00530 NCBI chrNW_004936471:19,604,083...19,733,721 JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00530 NCBI chrNW_004936555:4,084,099...4,108,219 JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00530 NCBI chrNW_004936480:12,265,304...12,357,747 JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00530 NCBI chrNW_004936588:14,422...20,467 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_004936588:3,688,244...3,705,831 JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00349 NCBI chrNW_004936498:5,496,991...5,653,206 JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00349 NCBI chrNW_004936629:187,281...205,493 JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00349 NCBI chrNW_004936682:1,535,617...1,590,723 JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00349 NCBI chrNW_004936629:3,304,236...3,346,264 JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00349 NCBI chrNW_004936604:3,821,672...3,839,975 JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00349 NCBI chrNW_004936594:3,855,071...3,864,034 JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00349 NCBI chrNW_004936904:142,576...158,606 JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00349 NCBI chrNW_004936488:15,444,184...15,519,395 JBrowse link
G Gba glucosylceramidase beta ISO SMPDB SMP:00349 NCBI chrNW_004936580:4,715,869...4,720,752 JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00349 NCBI chrNW_004936813:474,938...484,753 JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00349 NCBI chrNW_004936473:23,348,431...23,440,271 JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00349 NCBI chrNW_004936497:2,169,982...2,199,600 JBrowse link
G LOC101967158 serine palmitoyltransferase 2 ISO SMPDB SMP:00349 NCBI chrNW_004936488:6,313,189...6,404,425 JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00349 NCBI chrNW_004936498:3,897,511...3,915,013 JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00349 NCBI chrNW_004936480:12,265,304...12,357,747 JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00349 NCBI chrNW_004936735:1,702,754...1,984,141 JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00349 NCBI chrNW_004936521:7,850,370...7,899,998 JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00349 NCBI chrNW_004936569:4,405,804...4,518,637 JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00349 NCBI chrNW_004936664:2,668,708...2,676,608 JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00349 NCBI chrNW_004936796:886,946...948,254 JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00349 NCBI chrNW_004936559:1,475,684...1,513,273 JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00349 NCBI chrNW_004936563:5,251,451...5,305,683 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_004936497:13,242,644...13,269,007 JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00542 NCBI chrNW_004936845:66,674...96,248 JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00542 NCBI chrNW_004936571:2,761,254...2,797,045 JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00542 NCBI chrNW_004936668:257,214...272,089 JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00542 NCBI chrNW_004936486:11,668,099...11,707,946 JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00542 NCBI chrNW_004936595:514,883...520,223 JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00542 NCBI chrNW_004936551:594,647...626,016 JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00542 NCBI chrNW_004936554:4,425,518...4,484,853 JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00542 NCBI chrNW_004936599:1,491,934...1,535,101 JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00542 NCBI chrNW_004936522:7,858,172...7,875,679 JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00542 NCBI chrNW_004936486:19,488,619...19,496,583 JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00542 NCBI chrNW_004936659:1,955,601...1,961,925 JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00542 NCBI chrNW_004936493:6,182,786...6,224,601 JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00542 NCBI chrNW_004936493:6,139,717...6,182,792 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_004936588:3,688,244...3,705,831 JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00347 NCBI chrNW_004936498:5,496,991...5,653,206 JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00347 NCBI chrNW_004936629:187,281...205,493 JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00347 NCBI chrNW_004936682:1,535,617...1,590,723 JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00347 NCBI chrNW_004936629:3,304,236...3,346,264 JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00347 NCBI chrNW_004936604:3,821,672...3,839,975 JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00347 NCBI chrNW_004936594:3,855,071...3,864,034 JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00347 NCBI chrNW_004936904:142,576...158,606 JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00347 NCBI chrNW_004936488:15,444,184...15,519,395 JBrowse link
G Gba glucosylceramidase beta ISO SMPDB SMP:00347 NCBI chrNW_004936580:4,715,869...4,720,752 JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00347 NCBI chrNW_004936813:474,938...484,753 JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00347 NCBI chrNW_004936473:23,348,431...23,440,271 JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00347 NCBI chrNW_004936497:2,169,982...2,199,600 JBrowse link
G LOC101967158 serine palmitoyltransferase 2 ISO SMPDB SMP:00347 NCBI chrNW_004936488:6,313,189...6,404,425 JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00347 NCBI chrNW_004936498:3,897,511...3,915,013 JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00347 NCBI chrNW_004936480:12,265,304...12,357,747 JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00347 NCBI chrNW_004936735:1,702,754...1,984,141 JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00347 NCBI chrNW_004936521:7,850,370...7,899,998 JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00347 NCBI chrNW_004936569:4,405,804...4,518,637 JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00347 NCBI chrNW_004936664:2,668,708...2,676,608 JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00347 NCBI chrNW_004936796:886,946...948,254 JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00347 NCBI chrNW_004936559:1,475,684...1,513,273 JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00347 NCBI chrNW_004936563:5,251,451...5,305,683 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_004936497:13,242,644...13,269,007 JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00235 NCBI chrNW_004936845:66,674...96,248 JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00235 NCBI chrNW_004936571:2,761,254...2,797,045 JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00235 NCBI chrNW_004936668:257,214...272,089 JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00235 NCBI chrNW_004936486:11,668,099...11,707,946 JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00235 NCBI chrNW_004936595:514,883...520,223 JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00235 NCBI chrNW_004936551:594,647...626,016 JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00235 NCBI chrNW_004936554:4,425,518...4,484,853 JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00235 NCBI chrNW_004936599:1,491,934...1,535,101 JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00235 NCBI chrNW_004936522:7,858,172...7,875,679 JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00235 NCBI chrNW_004936486:19,488,619...19,496,583 JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00235 NCBI chrNW_004936659:1,955,601...1,961,925 JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00235 NCBI chrNW_004936493:6,182,786...6,224,601 JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00235 NCBI chrNW_004936493:6,139,717...6,182,792 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_004936489:11,255,871...11,273,848 JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00389 NCBI chrNW_004936522:6,423,561...6,447,363 JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00389 NCBI chrNW_004936628:3,599,435...3,600,061 JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00389 NCBI chrNW_004936580:4,799,354...4,808,406 JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00389 NCBI chrNW_004936484:17,104,437...17,115,897 JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00389 NCBI chrNW_004936549:1,378,536...1,400,501 JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00389 NCBI chrNW_004936480:18,862,288...18,882,614 JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00389 NCBI chrNW_004936831:951,603...976,159 JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00389 NCBI chrNW_004936484:13,054,155...13,061,935 JBrowse link
G LOC101955024 lanosterol 14-alpha demethylase ISO SMPDB SMP:00389 NCBI chrNW_004936621:2,209,255...2,232,404 JBrowse link
G LOC101964999 EBP cholestenol delta-isomerase ISO SMPDB SMP:00389 NCBI chrNW_004936721:508,716...515,968 JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00389 NCBI chrNW_004936778:323,120...351,100 JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00389 NCBI chrNW_004936555:664,171...678,082 JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00389 NCBI chrNW_004936641:1,030,465...1,035,967 JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00389 NCBI chrNW_004936769:1,274,595...1,295,186 JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00389 NCBI chrNW_004936714:246,574...273,930 JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00389 NCBI chrNW_004936580:4,473,554...4,482,396 JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00389 NCBI chrNW_004936542:6,046,425...6,062,825 JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00389 NCBI chrNW_004936481:9,614,605...9,669,705 JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00389 NCBI chrNW_004936470:22,726,793...22,752,429 JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00389 NCBI chrNW_004936599:4,253,725...4,258,198 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_004936497:13,242,644...13,269,007 JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00545 NCBI chrNW_004936845:66,674...96,248 JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00545 NCBI chrNW_004936571:2,761,254...2,797,045 JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00545 NCBI chrNW_004936668:257,214...272,089 JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00545 NCBI chrNW_004936486:11,668,099...11,707,946 JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00545 NCBI chrNW_004936595:514,883...520,223 JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00545 NCBI chrNW_004936551:594,647...626,016 JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00545 NCBI chrNW_004936554:4,425,518...4,484,853 JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00545 NCBI chrNW_004936599:1,491,934...1,535,101 JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00545 NCBI chrNW_004936522:7,858,172...7,875,679 JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00545 NCBI chrNW_004936486:19,488,619...19,496,583 JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00545 NCBI chrNW_004936659:1,955,601...1,961,925 JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00545 NCBI chrNW_004936493:6,182,786...6,224,601 JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00545 NCBI chrNW_004936493:6,139,717...6,182,792 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_004936497:13,242,644...13,269,007 JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00540 NCBI chrNW_004936845:66,674...96,248 JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00540 NCBI chrNW_004936571:2,761,254...2,797,045 JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00540 NCBI chrNW_004936668:257,214...272,089 JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00540 NCBI chrNW_004936486:11,668,099...11,707,946 JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00540 NCBI chrNW_004936595:514,883...520,223 JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00540 NCBI chrNW_004936551:594,647...626,016 JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00540 NCBI chrNW_004936554:4,425,518...4,484,853 JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00540 NCBI chrNW_004936599:1,491,934...1,535,101 JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00540 NCBI chrNW_004936522:7,858,172...7,875,679 JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00540 NCBI chrNW_004936486:19,488,619...19,496,583 JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00540 NCBI chrNW_004936659:1,955,601...1,961,925 JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00540 NCBI chrNW_004936493:6,182,786...6,224,601 JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00540 NCBI chrNW_004936493:6,139,717...6,182,792 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_004936489:11,255,871...11,273,848 JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936522:6,423,561...6,447,363 JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936628:3,599,435...3,600,061 JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936580:4,799,354...4,808,406 JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936484:17,104,437...17,115,897 JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936549:1,378,536...1,400,501 JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936480:18,862,288...18,882,614 JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936831:951,603...976,159 JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936484:13,054,155...13,061,935 JBrowse link
G LOC101955024 lanosterol 14-alpha demethylase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936621:2,209,255...2,232,404 JBrowse link
G LOC101964999 EBP cholestenol delta-isomerase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936721:508,716...515,968 JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936778:323,120...351,100 JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936555:664,171...678,082 JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936641:1,030,465...1,035,967 JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936769:1,274,595...1,295,186 JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936714:246,574...273,930 JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936580:4,473,554...4,482,396 JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936542:6,046,425...6,062,825 JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936481:9,614,605...9,669,705 JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936470:22,726,793...22,752,429 JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936599:4,253,725...4,258,198 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 3946
    disease pathway 686
      nutritional and metabolic disease pathway 557
        metabolic disease pathway 522
          lipid metabolism disease pathway 93
            inborn error of lipid metabolism pathway 93
              Smith-Lemli-Opitz Syndrome pathway 21
              carnitine palmitoyltransferase I deficiency pathway 14
              carnitine-acylcarnitine translocase deficiency 10
              cerebrotendinous xanthomatosis pathway 15
              cholesterol ester storage disease pathway + 21
              desmosterolosis pathway 21
              familial lipoprotein lipase deficiency pathway 13
              medium chain acyl-CoA dehydrogenase deficiency pathway 14
              short-chain acyl-CoA dehydrogenase deficiency pathway 14
              sphingolipidosis pathway + 23
              trifunctional protein deficiency pathway 14
              very long-chain acyl-CoA dehydrogenase deficiency pathway 14
paths to the root