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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_004936497:13,242,644...13,269,007
Ensembl chrNW_004936497:13,242,644...13,269,532
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00538 NCBI chrNW_004936845:66,674...96,248
Ensembl chrNW_004936845:66,241...96,249
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
Ensembl chrNW_004936668:254,595...272,118
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00538 NCBI chrNW_004936486:11,668,099...11,707,946
Ensembl chrNW_004936486:11,668,099...11,711,786
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00538 NCBI chrNW_004936595:514,883...520,223
Ensembl chrNW_004936595:514,534...520,223
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00538 NCBI chrNW_004936551:594,647...626,016
Ensembl chrNW_004936551:591,695...626,056
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
Ensembl chrNW_004936554:4,425,495...4,484,887
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00538 NCBI chrNW_004936599:1,491,934...1,535,101
Ensembl chrNW_004936599:1,482,172...1,535,119
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00538 NCBI chrNW_004936522:7,858,172...7,875,679
Ensembl chrNW_004936522:7,856,087...7,875,685
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00538 NCBI chrNW_004936486:19,488,619...19,496,583
Ensembl chrNW_004936486:19,488,554...19,496,575
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00538 NCBI chrNW_004936659:1,955,601...1,961,925
Ensembl chrNW_004936659:1,955,559...1,962,758
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
Ensembl chrNW_004936493:6,182,261...6,224,693
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
Ensembl chrNW_004936493:6,137,970...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
Ensembl chrNW_004936809:615,139...635,990
JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00517 NCBI chrNW_004936607:1,292,964...1,345,671
Ensembl chrNW_004936607:1,292,888...1,343,334
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
Ensembl chrNW_004936554:4,425,495...4,484,887
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chrNW_004936522:7,858,172...7,875,679
Ensembl chrNW_004936522:7,856,087...7,875,685
JBrowse link
G Crat carnitine O-acetyltransferase ISO SMPDB SMP:00517 NCBI chrNW_004936487:16,523,571...16,537,242
Ensembl chrNW_004936487:16,523,571...16,537,248
JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chrNW_004936763:1,425,394...1,462,638
Ensembl chrNW_004936763:1,424,935...1,462,679
JBrowse link
G LOC101959362 peroxisomal membrane protein PEX14 ISO SMPDB SMP:00517 NCBI chrNW_004936623:4,313,186...4,462,462
Ensembl chrNW_004936623:4,313,147...4,462,528
Ensembl chrNW_004936623:4,313,147...4,462,528
JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chrNW_004936588:4,574,220...4,580,195
Ensembl chrNW_004936588:4,574,612...4,580,222
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chrNW_004936491:6,530,385...6,559,706
Ensembl chrNW_004936491:6,529,779...6,562,590
JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO SMPDB SMP:00517 NCBI chrNW_004936529:607,035...631,872
Ensembl chrNW_004936529:606,804...631,991
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
Ensembl chrNW_004936473:2,494,554...2,526,787
JBrowse link
G Akr1d1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00315 NCBI chrNW_004936592:2,486,219...2,522,796
Ensembl chrNW_004936592:2,491,681...2,522,796
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00315 NCBI chrNW_004936518:7,072,436...7,088,927
Ensembl chrNW_004936518:7,072,403...7,088,929
JBrowse link
G Baat bile acid-CoA:amino acid N-acyltransferase ISO SMPDB SMP:00315 NCBI chrNW_004936524:9,536,032...9,544,901
Ensembl chrNW_004936524:9,536,010...9,545,076
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004936601:5,015,922...5,016,942
Ensembl chrNW_004936601:5,015,219...5,160,908
JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00315 NCBI chrNW_004936715:2,357,215...2,446,601
Ensembl chrNW_004936715:2,357,274...2,446,271
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
Ensembl chrNW_004936501:13,363,576...13,367,553
JBrowse link
G LOC101955077 cytochrome P450 7B1 ISO SMPDB SMP:00315 NCBI chrNW_004936496:8,900,320...9,072,109
Ensembl chrNW_004936496:8,899,965...9,072,089
JBrowse link
G LOC101961079 cholesterol 24-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004936604:3,451,853...3,490,688
Ensembl chrNW_004936604:3,451,842...3,491,159
JBrowse link
G LOC101963150 sterol 26-hydroxylase, mitochondrial ISO SMPDB SMP:00315 NCBI chrNW_004936569:1,213,700...1,250,181
Ensembl chrNW_004936569:1,213,573...1,250,589
JBrowse link
G LOC101970910 cytochrome P450 7A1 ISO SMPDB SMP:00315 NCBI chrNW_004936496:4,599,138...4,605,653
Ensembl 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
Ensembl chrNW_004936476:13,697,583...13,819,109
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
Ensembl 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
Ensembl chrNW_004936522:8,005,442...8,110,889
JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00315 NCBI chrNW_004937062:90,217...98,562
Ensembl chrNW_004937062:89,664...98,113
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
Ensembl chrNW_004936489:11,255,871...11,283,216
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00508 NCBI chrNW_004936522:6,423,561...6,447,363
Ensembl chrNW_004936522:6,423,561...6,444,814
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00508 NCBI chrNW_004936721:508,716...515,968
Ensembl chrNW_004936721:509,374...515,918
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
Ensembl chrNW_004936484:17,104,750...17,110,059
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00508 NCBI chrNW_004936549:1,378,536...1,400,501
Ensembl chrNW_004936549:1,378,736...1,400,532
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00508 NCBI chrNW_004936480:18,862,288...18,882,614
Ensembl chrNW_004936480:18,862,238...18,882,616
JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00508 NCBI chrNW_004936831:951,603...976,159
Ensembl chrNW_004936831:951,562...977,208
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
Ensembl chrNW_004936621:2,209,199...2,232,531
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00508 NCBI chrNW_004936778:323,120...351,100
Ensembl chrNW_004936778:323,014...351,102
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00508 NCBI chrNW_004936555:664,171...678,082
Ensembl chrNW_004936555:664,158...678,208
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00508 NCBI chrNW_004936641:1,030,465...1,035,967
Ensembl chrNW_004936641:1,030,595...1,035,954
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00508 NCBI chrNW_004936769:1,274,595...1,295,186
Ensembl chrNW_004936769:1,274,540...1,298,178
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00508 NCBI chrNW_004936714:246,574...273,930
Ensembl chrNW_004936714:246,551...273,912
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00508 NCBI chrNW_004936580:4,473,554...4,482,396
Ensembl chrNW_004936580:4,473,359...4,482,631
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00508 NCBI chrNW_004936542:6,046,425...6,062,825
Ensembl chrNW_004936542:6,046,390...6,059,074
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00508 NCBI chrNW_004936481:9,614,605...9,669,705
Ensembl chrNW_004936481:9,616,850...9,669,705
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00508 NCBI chrNW_004936470:22,726,793...22,752,429
Ensembl chrNW_004936470:22,725,888...22,752,500
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00508 NCBI chrNW_004936599:4,253,725...4,258,198
Ensembl chrNW_004936599:4,253,735...4,258,071
JBrowse link
desmosterolosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00386 NCBI chrNW_004936489:11,255,871...11,273,848
Ensembl chrNW_004936489:11,255,871...11,283,216
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00386 NCBI chrNW_004936522:6,423,561...6,447,363
Ensembl chrNW_004936522:6,423,561...6,444,814
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00386 NCBI chrNW_004936721:508,716...515,968
Ensembl chrNW_004936721:509,374...515,918
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
Ensembl chrNW_004936484:17,104,750...17,110,059
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00386 NCBI chrNW_004936549:1,378,536...1,400,501
Ensembl chrNW_004936549:1,378,736...1,400,532
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936480:18,862,288...18,882,614
Ensembl chrNW_004936480:18,862,238...18,882,616
JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00386 NCBI chrNW_004936831:951,603...976,159
Ensembl chrNW_004936831:951,562...977,208
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
Ensembl chrNW_004936621:2,209,199...2,232,531
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00386 NCBI chrNW_004936778:323,120...351,100
Ensembl chrNW_004936778:323,014...351,102
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936555:664,171...678,082
Ensembl chrNW_004936555:664,158...678,208
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00386 NCBI chrNW_004936641:1,030,465...1,035,967
Ensembl chrNW_004936641:1,030,595...1,035,954
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00386 NCBI chrNW_004936769:1,274,595...1,295,186
Ensembl chrNW_004936769:1,274,540...1,298,178
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00386 NCBI chrNW_004936714:246,574...273,930
Ensembl chrNW_004936714:246,551...273,912
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00386 NCBI chrNW_004936580:4,473,554...4,482,396
Ensembl chrNW_004936580:4,473,359...4,482,631
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00386 NCBI chrNW_004936542:6,046,425...6,062,825
Ensembl chrNW_004936542:6,046,390...6,059,074
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936481:9,614,605...9,669,705
Ensembl chrNW_004936481:9,616,850...9,669,705
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00386 NCBI chrNW_004936470:22,726,793...22,752,429
Ensembl chrNW_004936470:22,725,888...22,752,500
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00386 NCBI chrNW_004936599:4,253,725...4,258,198
Ensembl chrNW_004936599:4,253,735...4,258,071
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
Ensembl 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
Ensembl 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
Ensembl chrNW_004936629:187,275...191,008
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00525 NCBI chrNW_004936682:1,535,617...1,590,723
Ensembl chrNW_004936682:1,535,586...1,593,827
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00525 NCBI chrNW_004936629:3,304,236...3,346,264
Ensembl chrNW_004936629:3,304,236...3,344,136
JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00525 NCBI chrNW_004936604:3,821,672...3,839,975
Ensembl chrNW_004936604:3,817,886...3,839,986
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00525 NCBI chrNW_004936594:3,855,071...3,864,034
Ensembl chrNW_004936594:3,855,150...3,858,317
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00525 NCBI chrNW_004936904:142,576...158,606
Ensembl chrNW_004936904:142,387...159,633
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00525 NCBI chrNW_004936488:15,444,184...15,519,395
Ensembl chrNW_004936488:15,444,801...15,518,856
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00525 NCBI chrNW_004936580:4,715,869...4,720,752
Ensembl chrNW_004936580:4,715,408...4,720,798
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00525 NCBI chrNW_004936813:474,938...484,753
Ensembl chrNW_004936813:474,949...484,760
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00525 NCBI chrNW_004936473:23,348,431...23,440,271
Ensembl chrNW_004936473:23,348,416...23,440,196
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00525 NCBI chrNW_004936497:2,169,982...2,199,600
Ensembl chrNW_004936497:2,169,712...2,203,150
JBrowse link
G LOC101967158 serine palmitoyltransferase 2 ISO SMPDB SMP:00525 NCBI chrNW_004936488:6,313,189...6,404,425
Ensembl chrNW_004936488:6,289,833...6,296,849
Ensembl chrNW_004936488:6,289,833...6,296,849
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00525 NCBI chrNW_004936498:3,897,511...3,915,013
Ensembl chrNW_004936498:3,897,485...3,910,115
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00525 NCBI chrNW_004936480:12,265,304...12,357,747
Ensembl chrNW_004936480:12,265,246...12,359,450
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00525 NCBI chrNW_004936735:1,702,754...1,984,141
Ensembl chrNW_004936735:1,943,352...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
Ensembl chrNW_004936521:7,848,972...7,900,041
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00525 NCBI chrNW_004936569:4,405,804...4,518,637
Ensembl chrNW_004936569:4,406,253...4,518,655
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00525 NCBI chrNW_004936664:2,668,708...2,676,608
Ensembl chrNW_004936664:2,669,920...2,676,587
JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00525 NCBI chrNW_004936796:886,946...948,254
Ensembl chrNW_004936796:886,922...948,254
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00525 NCBI chrNW_004936559:1,475,684...1,513,273
Ensembl chrNW_004936559:1,475,592...1,513,273
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00525 NCBI chrNW_004936563:5,251,451...5,305,683
Ensembl chrNW_004936563:5,224,173...5,306,120
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
Ensembl chrNW_004936727:1,426,857...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
Ensembl chrNW_004936881:70,951...77,839
JBrowse link
G Dgka diacylglycerol kinase alpha ISO SMPDB SMP:00530 NCBI chrNW_004936646:351,589...367,985
Ensembl chrNW_004936646:351,414...369,971
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
Ensembl chrNW_004936529:3,628,822...3,635,236
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00530 NCBI chrNW_004936486:2,754,753...2,823,600
Ensembl chrNW_004936486:2,754,751...2,823,665
JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00530 NCBI chrNW_004936512:7,762,325...7,770,007
Ensembl chrNW_004936512:7,762,643...7,770,309
JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00530 NCBI chrNW_004936469:21,705,421...21,833,143
Ensembl chrNW_004936469:21,705,421...21,831,745
JBrowse link
G Lipc lipase C, hepatic type ISO SMPDB SMP:00530 NCBI chrNW_004936471:19,604,083...19,733,721
Ensembl chrNW_004936471:19,703,236...19,733,686
JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00530 NCBI chrNW_004936555:4,084,099...4,108,219
Ensembl chrNW_004936555:4,084,099...4,108,365
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00530 NCBI chrNW_004936480:12,265,304...12,357,747
Ensembl chrNW_004936480:12,265,246...12,359,450
JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00530 NCBI chrNW_004936588:14,422...20,467
Ensembl chrNW_004936588:14,399...20,514
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
Ensembl 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
Ensembl 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
Ensembl chrNW_004936629:187,275...191,008
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00349 NCBI chrNW_004936682:1,535,617...1,590,723
Ensembl chrNW_004936682:1,535,586...1,593,827
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00349 NCBI chrNW_004936629:3,304,236...3,346,264
Ensembl chrNW_004936629:3,304,236...3,344,136
JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00349 NCBI chrNW_004936604:3,821,672...3,839,975
Ensembl chrNW_004936604:3,817,886...3,839,986
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00349 NCBI chrNW_004936594:3,855,071...3,864,034
Ensembl chrNW_004936594:3,855,150...3,858,317
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00349 NCBI chrNW_004936904:142,576...158,606
Ensembl chrNW_004936904:142,387...159,633
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00349 NCBI chrNW_004936488:15,444,184...15,519,395
Ensembl chrNW_004936488:15,444,801...15,518,856
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00349 NCBI chrNW_004936580:4,715,869...4,720,752
Ensembl chrNW_004936580:4,715,408...4,720,798
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00349 NCBI chrNW_004936813:474,938...484,753
Ensembl chrNW_004936813:474,949...484,760
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00349 NCBI chrNW_004936473:23,348,431...23,440,271
Ensembl chrNW_004936473:23,348,416...23,440,196
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00349 NCBI chrNW_004936497:2,169,982...2,199,600
Ensembl chrNW_004936497:2,169,712...2,203,150
JBrowse link
G LOC101967158 serine palmitoyltransferase 2 ISO SMPDB SMP:00349 NCBI chrNW_004936488:6,313,189...6,404,425
Ensembl chrNW_004936488:6,289,833...6,296,849
Ensembl chrNW_004936488:6,289,833...6,296,849
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00349 NCBI chrNW_004936498:3,897,511...3,915,013
Ensembl chrNW_004936498:3,897,485...3,910,115
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00349 NCBI chrNW_004936480:12,265,304...12,357,747
Ensembl chrNW_004936480:12,265,246...12,359,450
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00349 NCBI chrNW_004936735:1,702,754...1,984,141
Ensembl chrNW_004936735:1,943,352...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
Ensembl chrNW_004936521:7,848,972...7,900,041
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00349 NCBI chrNW_004936569:4,405,804...4,518,637
Ensembl chrNW_004936569:4,406,253...4,518,655
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00349 NCBI chrNW_004936664:2,668,708...2,676,608
Ensembl chrNW_004936664:2,669,920...2,676,587
JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00349 NCBI chrNW_004936796:886,946...948,254
Ensembl chrNW_004936796:886,922...948,254
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00349 NCBI chrNW_004936559:1,475,684...1,513,273
Ensembl chrNW_004936559:1,475,592...1,513,273
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00349 NCBI chrNW_004936563:5,251,451...5,305,683
Ensembl chrNW_004936563:5,224,173...5,306,120
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_004936489:11,255,871...11,273,848
Ensembl chrNW_004936489:11,255,871...11,283,216
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00209 NCBI chrNW_004936522:6,423,561...6,447,363
Ensembl chrNW_004936522:6,423,561...6,444,814
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00209 NCBI chrNW_004936721:508,716...515,968
Ensembl chrNW_004936721:509,374...515,918
JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00209 NCBI chrNW_004936628:3,599,435...3,600,061 JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00209 NCBI chrNW_004936580:4,799,354...4,808,406 JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00209 NCBI chrNW_004936484:17,104,437...17,115,897
Ensembl chrNW_004936484:17,104,750...17,110,059
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00209 NCBI chrNW_004936549:1,378,536...1,400,501
Ensembl chrNW_004936549:1,378,736...1,400,532
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00209 NCBI chrNW_004936480:18,862,288...18,882,614
Ensembl chrNW_004936480:18,862,238...18,882,616
JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00209 NCBI chrNW_004936831:951,603...976,159
Ensembl chrNW_004936831:951,562...977,208
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00209 NCBI chrNW_004936484:13,054,155...13,061,935 JBrowse link
G LOC101955024 lanosterol 14-alpha demethylase ISO SMPDB SMP:00209 NCBI chrNW_004936621:2,209,255...2,232,404
Ensembl chrNW_004936621:2,209,199...2,232,531
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00209 NCBI chrNW_004936778:323,120...351,100
Ensembl chrNW_004936778:323,014...351,102
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00209 NCBI chrNW_004936555:664,171...678,082
Ensembl chrNW_004936555:664,158...678,208
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00209 NCBI chrNW_004936641:1,030,465...1,035,967
Ensembl chrNW_004936641:1,030,595...1,035,954
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00209 NCBI chrNW_004936769:1,274,595...1,295,186
Ensembl chrNW_004936769:1,274,540...1,298,178
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00209 NCBI chrNW_004936714:246,574...273,930
Ensembl chrNW_004936714:246,551...273,912
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00209 NCBI chrNW_004936580:4,473,554...4,482,396
Ensembl chrNW_004936580:4,473,359...4,482,631
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00209 NCBI chrNW_004936542:6,046,425...6,062,825
Ensembl chrNW_004936542:6,046,390...6,059,074
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00209 NCBI chrNW_004936481:9,614,605...9,669,705
Ensembl chrNW_004936481:9,616,850...9,669,705
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00209 NCBI chrNW_004936470:22,726,793...22,752,429
Ensembl chrNW_004936470:22,725,888...22,752,500
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00209 NCBI chrNW_004936599:4,253,725...4,258,198
Ensembl chrNW_004936599:4,253,735...4,258,071
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
Ensembl chrNW_004936497:13,242,644...13,269,532
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00542 NCBI chrNW_004936845:66,674...96,248
Ensembl chrNW_004936845:66,241...96,249
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
Ensembl chrNW_004936668:254,595...272,118
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00542 NCBI chrNW_004936486:11,668,099...11,707,946
Ensembl chrNW_004936486:11,668,099...11,711,786
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00542 NCBI chrNW_004936595:514,883...520,223
Ensembl chrNW_004936595:514,534...520,223
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00542 NCBI chrNW_004936551:594,647...626,016
Ensembl chrNW_004936551:591,695...626,056
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
Ensembl chrNW_004936554:4,425,495...4,484,887
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00542 NCBI chrNW_004936599:1,491,934...1,535,101
Ensembl chrNW_004936599:1,482,172...1,535,119
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00542 NCBI chrNW_004936522:7,858,172...7,875,679
Ensembl chrNW_004936522:7,856,087...7,875,685
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00542 NCBI chrNW_004936486:19,488,619...19,496,583
Ensembl chrNW_004936486:19,488,554...19,496,575
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00542 NCBI chrNW_004936659:1,955,601...1,961,925
Ensembl chrNW_004936659:1,955,559...1,962,758
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
Ensembl chrNW_004936493:6,182,261...6,224,693
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
Ensembl chrNW_004936493:6,137,970...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
Ensembl 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
Ensembl 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
Ensembl chrNW_004936629:187,275...191,008
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00347 NCBI chrNW_004936682:1,535,617...1,590,723
Ensembl chrNW_004936682:1,535,586...1,593,827
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00347 NCBI chrNW_004936629:3,304,236...3,346,264
Ensembl chrNW_004936629:3,304,236...3,344,136
JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00347 NCBI chrNW_004936604:3,821,672...3,839,975
Ensembl chrNW_004936604:3,817,886...3,839,986
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00347 NCBI chrNW_004936594:3,855,071...3,864,034
Ensembl chrNW_004936594:3,855,150...3,858,317
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00347 NCBI chrNW_004936904:142,576...158,606
Ensembl chrNW_004936904:142,387...159,633
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00347 NCBI chrNW_004936488:15,444,184...15,519,395
Ensembl chrNW_004936488:15,444,801...15,518,856
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00347 NCBI chrNW_004936580:4,715,869...4,720,752
Ensembl chrNW_004936580:4,715,408...4,720,798
JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00347 NCBI chrNW_004936813:474,938...484,753
Ensembl chrNW_004936813:474,949...484,760
JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00347 NCBI chrNW_004936473:23,348,431...23,440,271
Ensembl chrNW_004936473:23,348,416...23,440,196
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00347 NCBI chrNW_004936497:2,169,982...2,199,600
Ensembl chrNW_004936497:2,169,712...2,203,150
JBrowse link
G LOC101967158 serine palmitoyltransferase 2 ISO SMPDB SMP:00347 NCBI chrNW_004936488:6,313,189...6,404,425
Ensembl chrNW_004936488:6,289,833...6,296,849
Ensembl chrNW_004936488:6,289,833...6,296,849
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00347 NCBI chrNW_004936498:3,897,511...3,915,013
Ensembl chrNW_004936498:3,897,485...3,910,115
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00347 NCBI chrNW_004936480:12,265,304...12,357,747
Ensembl chrNW_004936480:12,265,246...12,359,450
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00347 NCBI chrNW_004936735:1,702,754...1,984,141
Ensembl chrNW_004936735:1,943,352...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
Ensembl chrNW_004936521:7,848,972...7,900,041
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00347 NCBI chrNW_004936569:4,405,804...4,518,637
Ensembl chrNW_004936569:4,406,253...4,518,655
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00347 NCBI chrNW_004936664:2,668,708...2,676,608
Ensembl chrNW_004936664:2,669,920...2,676,587
JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00347 NCBI chrNW_004936796:886,946...948,254
Ensembl chrNW_004936796:886,922...948,254
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00347 NCBI chrNW_004936559:1,475,684...1,513,273
Ensembl chrNW_004936559:1,475,592...1,513,273
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00347 NCBI chrNW_004936563:5,251,451...5,305,683
Ensembl chrNW_004936563:5,224,173...5,306,120
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
Ensembl chrNW_004936497:13,242,644...13,269,532
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00235 NCBI chrNW_004936845:66,674...96,248
Ensembl chrNW_004936845:66,241...96,249
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
Ensembl chrNW_004936668:254,595...272,118
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00235 NCBI chrNW_004936486:11,668,099...11,707,946
Ensembl chrNW_004936486:11,668,099...11,711,786
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00235 NCBI chrNW_004936595:514,883...520,223
Ensembl chrNW_004936595:514,534...520,223
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00235 NCBI chrNW_004936551:594,647...626,016
Ensembl chrNW_004936551:591,695...626,056
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
Ensembl chrNW_004936554:4,425,495...4,484,887
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00235 NCBI chrNW_004936599:1,491,934...1,535,101
Ensembl chrNW_004936599:1,482,172...1,535,119
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00235 NCBI chrNW_004936522:7,858,172...7,875,679
Ensembl chrNW_004936522:7,856,087...7,875,685
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00235 NCBI chrNW_004936486:19,488,619...19,496,583
Ensembl chrNW_004936486:19,488,554...19,496,575
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00235 NCBI chrNW_004936659:1,955,601...1,961,925
Ensembl chrNW_004936659:1,955,559...1,962,758
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
Ensembl chrNW_004936493:6,182,261...6,224,693
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
Ensembl chrNW_004936493:6,137,970...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
Ensembl chrNW_004936489:11,255,871...11,283,216
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00389 NCBI chrNW_004936522:6,423,561...6,447,363
Ensembl chrNW_004936522:6,423,561...6,444,814
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00389 NCBI chrNW_004936721:508,716...515,968
Ensembl chrNW_004936721:509,374...515,918
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
Ensembl chrNW_004936484:17,104,750...17,110,059
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00389 NCBI chrNW_004936549:1,378,536...1,400,501
Ensembl chrNW_004936549:1,378,736...1,400,532
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00389 NCBI chrNW_004936480:18,862,288...18,882,614
Ensembl chrNW_004936480:18,862,238...18,882,616
JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00389 NCBI chrNW_004936831:951,603...976,159
Ensembl chrNW_004936831:951,562...977,208
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
Ensembl chrNW_004936621:2,209,199...2,232,531
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00389 NCBI chrNW_004936778:323,120...351,100
Ensembl chrNW_004936778:323,014...351,102
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00389 NCBI chrNW_004936555:664,171...678,082
Ensembl chrNW_004936555:664,158...678,208
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00389 NCBI chrNW_004936641:1,030,465...1,035,967
Ensembl chrNW_004936641:1,030,595...1,035,954
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00389 NCBI chrNW_004936769:1,274,595...1,295,186
Ensembl chrNW_004936769:1,274,540...1,298,178
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00389 NCBI chrNW_004936714:246,574...273,930
Ensembl chrNW_004936714:246,551...273,912
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00389 NCBI chrNW_004936580:4,473,554...4,482,396
Ensembl chrNW_004936580:4,473,359...4,482,631
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00389 NCBI chrNW_004936542:6,046,425...6,062,825
Ensembl chrNW_004936542:6,046,390...6,059,074
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00389 NCBI chrNW_004936481:9,614,605...9,669,705
Ensembl chrNW_004936481:9,616,850...9,669,705
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00389 NCBI chrNW_004936470:22,726,793...22,752,429
Ensembl chrNW_004936470:22,725,888...22,752,500
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00389 NCBI chrNW_004936599:4,253,725...4,258,198
Ensembl chrNW_004936599:4,253,735...4,258,071
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
Ensembl chrNW_004936497:13,242,644...13,269,532
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00545 NCBI chrNW_004936845:66,674...96,248
Ensembl chrNW_004936845:66,241...96,249
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
Ensembl chrNW_004936668:254,595...272,118
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00545 NCBI chrNW_004936486:11,668,099...11,707,946
Ensembl chrNW_004936486:11,668,099...11,711,786
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00545 NCBI chrNW_004936595:514,883...520,223
Ensembl chrNW_004936595:514,534...520,223
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00545 NCBI chrNW_004936551:594,647...626,016
Ensembl chrNW_004936551:591,695...626,056
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
Ensembl chrNW_004936554:4,425,495...4,484,887
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00545 NCBI chrNW_004936599:1,491,934...1,535,101
Ensembl chrNW_004936599:1,482,172...1,535,119
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00545 NCBI chrNW_004936522:7,858,172...7,875,679
Ensembl chrNW_004936522:7,856,087...7,875,685
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00545 NCBI chrNW_004936486:19,488,619...19,496,583
Ensembl chrNW_004936486:19,488,554...19,496,575
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00545 NCBI chrNW_004936659:1,955,601...1,961,925
Ensembl chrNW_004936659:1,955,559...1,962,758
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
Ensembl chrNW_004936493:6,182,261...6,224,693
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
Ensembl chrNW_004936493:6,137,970...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
Ensembl chrNW_004936497:13,242,644...13,269,532
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00540 NCBI chrNW_004936845:66,674...96,248
Ensembl chrNW_004936845:66,241...96,249
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
Ensembl chrNW_004936668:254,595...272,118
JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00540 NCBI chrNW_004936486:11,668,099...11,707,946
Ensembl chrNW_004936486:11,668,099...11,711,786
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00540 NCBI chrNW_004936595:514,883...520,223
Ensembl chrNW_004936595:514,534...520,223
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00540 NCBI chrNW_004936551:594,647...626,016
Ensembl chrNW_004936551:591,695...626,056
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
Ensembl chrNW_004936554:4,425,495...4,484,887
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00540 NCBI chrNW_004936599:1,491,934...1,535,101
Ensembl chrNW_004936599:1,482,172...1,535,119
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00540 NCBI chrNW_004936522:7,858,172...7,875,679
Ensembl chrNW_004936522:7,856,087...7,875,685
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00540 NCBI chrNW_004936486:19,488,619...19,496,583
Ensembl chrNW_004936486:19,488,554...19,496,575
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00540 NCBI chrNW_004936659:1,955,601...1,961,925
Ensembl chrNW_004936659:1,955,559...1,962,758
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
Ensembl chrNW_004936493:6,182,261...6,224,693
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
Ensembl chrNW_004936493:6,137,970...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
Ensembl chrNW_004936489:11,255,871...11,283,216
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936522:6,423,561...6,447,363
Ensembl chrNW_004936522:6,423,561...6,444,814
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936721:508,716...515,968
Ensembl chrNW_004936721:509,374...515,918
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
Ensembl chrNW_004936484:17,104,750...17,110,059
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
Ensembl chrNW_004936549:1,378,736...1,400,532
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
Ensembl chrNW_004936480:18,862,238...18,882,616
JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936831:951,603...976,159
Ensembl chrNW_004936831:951,562...977,208
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
Ensembl chrNW_004936621:2,209,199...2,232,531
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936778:323,120...351,100
Ensembl chrNW_004936778:323,014...351,102
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936555:664,171...678,082
Ensembl chrNW_004936555:664,158...678,208
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936641:1,030,465...1,035,967
Ensembl chrNW_004936641:1,030,595...1,035,954
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936769:1,274,595...1,295,186
Ensembl chrNW_004936769:1,274,540...1,298,178
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936714:246,574...273,930
Ensembl chrNW_004936714:246,551...273,912
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936580:4,473,554...4,482,396
Ensembl chrNW_004936580:4,473,359...4,482,631
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936542:6,046,425...6,062,825
Ensembl chrNW_004936542:6,046,390...6,059,074
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936481:9,614,605...9,669,705
Ensembl chrNW_004936481:9,616,850...9,669,705
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936470:22,726,793...22,752,429
Ensembl chrNW_004936470:22,725,888...22,752,500
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00319 SMP:00511 NCBI chrNW_004936599:4,253,725...4,258,198
Ensembl chrNW_004936599:4,253,735...4,258,071
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 3951
    disease pathway 688
      nutritional and metabolic disease pathway 558
        metabolic disease pathway 523
          lipid metabolism disease pathway 93
            hypercholesterolemia pathway 21
            inborn error of lipid metabolism pathway + 93
            xanthomatosis pathway + 15
paths to the root