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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 chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00538 NCBI chr15:112,935,631...112,969,381
Ensembl chr15:112,933,498...112,969,578
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00538 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00538 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00538 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00538 NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,401...52,581,755
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00538 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00538 NCBI chr15:45,866,858...45,936,327
Ensembl chr15:45,866,851...46,090,099
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00538 NCBI chr 2:4,250,642...4,293,914
Ensembl chr 2:4,233,099...4,293,984
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00538 NCBI chr 6:159,038,129...159,061,327
Ensembl chr 6:159,036,821...159,061,327
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00538 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00538 NCBI chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00538 NCBI chr 3:112,753,343...112,797,627
Ensembl chr 3:112,752,865...112,797,735
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00538 NCBI chr 3:112,712,894...112,753,121
Ensembl chr 3:112,704,023...112,753,086
JBrowse link
carnitine-acylcarnitine translocase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO SMPDB SMP:00517 NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,235...124,503,195
JBrowse link
G ABCD2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00517 NCBI chr 5:71,123,187...71,180,758
Ensembl chr 5:71,122,320...71,180,723
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00517 NCBI chr15:45,866,858...45,936,327
Ensembl chr15:45,866,851...46,090,099
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chr 6:159,038,129...159,061,327
Ensembl chr 6:159,036,821...159,061,327
JBrowse link
G CRAT carnitine O-acetyltransferase ISO SMPDB SMP:00517 NCBI chr 1:269,387,430...269,401,334
Ensembl chr 1:269,386,650...269,401,331
JBrowse link
G CROT carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chr 9:93,263,606...93,308,150
Ensembl chr 9:93,258,619...93,308,151
JBrowse link
G PEX11G peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chr 2:71,639,289...71,649,445
Ensembl chr 2:71,635,487...71,652,903
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chr 3:80,757,470...80,791,107
Ensembl chr 3:80,753,908...80,791,056
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00517 NCBI chr 6:70,737,871...70,872,074
Ensembl chr 6:70,737,905...70,872,074
JBrowse link
G SLC25A20 solute carrier family 25 member 20 ISO SMPDB SMP:00517 NCBI chr13:31,523,820...31,553,289
Ensembl chr13:31,523,821...31,553,286
JBrowse link
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 chr13:40,220,952...40,255,967
Ensembl chr13:40,223,008...40,255,967
JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00315 NCBI chr18:11,416,065...11,532,846
Ensembl chr18:11,416,068...11,532,728
JBrowse link
G AMACR alpha-methylacyl-CoA racemase ISO SMPDB SMP:00315 NCBI chr16:20,005,741...20,023,339
Ensembl chr16:19,952,451...20,023,285
JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase ISO SMPDB SMP:00315 NCBI chr 1:243,065,668...243,084,816
Ensembl chr 1:243,065,795...243,084,287
JBrowse link
G CH25H cholesterol 25-hydroxylase ISO SMPDB SMP:00315 NCBI chr14:101,122,318...101,128,622
Ensembl chr14:101,123,381...101,125,593
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr15:120,809,886...120,852,196
Ensembl chr15:120,809,959...120,852,193
JBrowse link
G CYP39A1 cytochrome P450 family 39 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr 7:41,345,011...41,425,854
Ensembl chr 7:41,344,804...41,426,343
JBrowse link
G CYP46A1 cytochrome P450 family 46 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr 7:120,658,781...120,695,031
Ensembl chr 7:120,661,111...120,695,019
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr 4:74,343,101...74,372,628
Ensembl chr 4:74,342,856...74,372,638
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00315 NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,035...69,806,496
JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00315 NCBI chr13:26,330,233...26,331,738
Ensembl chr13:26,330,171...26,337,379
JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00315 NCBI chr 2:123,313,445...123,401,386
Ensembl chr 2:123,313,448...123,402,731
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00315 NCBI chr 3:17,459,627...17,463,381
Ensembl chr 3:17,459,627...17,463,386
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00315 NCBI chr14:101,131,372...101,254,739
Ensembl chr14:101,123,381...101,254,725
JBrowse link
G SCP2 sterol carrier protein 2 ISO SMPDB SMP:00315 NCBI chr 6:159,191,045...159,314,985 JBrowse link
G SLC27A5 solute carrier family 27 member 5 ISO SMPDB SMP:00315 NCBI chr 6:63,068,880...63,075,246
Ensembl chr 6:63,065,829...63,075,204
JBrowse link
cholesterol ester storage disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00508 NCBI chr 1:7,600,616...7,612,861
Ensembl chr 1:7,598,735...7,612,811
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00508 NCBI chr 9:72,057,506...72,079,587
Ensembl chr 9:72,057,511...72,079,444
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00508 NCBI chr 6:157,483,794...157,519,060
Ensembl chr 6:157,483,783...157,579,161
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO SMPDB SMP:00508 NCBI chr  X:42,670,592...42,678,571 JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00508 NCBI chr14:14,976,259...15,010,701
Ensembl chr14:14,967,273...15,104,179
JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00508 NCBI chr 4:94,500,140...94,514,820
Ensembl chr 4:94,489,215...94,518,408
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00508 NCBI chr14:55,907,885...55,924,037
Ensembl chr14:55,880,316...55,923,988
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00508 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,225...84,402,956
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00508 NCBI chr16:27,936,225...27,957,261
Ensembl chr16:27,936,217...27,957,194
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00508 NCBI chr 4:87,720,747...87,743,037
Ensembl chr 4:87,720,118...87,742,992
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00508 NCBI chr14:101,131,372...101,254,739
Ensembl chr14:101,123,381...101,254,725
JBrowse link
G LOC100625049 isopentenyl-diphosphate Delta-isomerase 1 ISO SMPDB SMP:00508 NCBI chr10:68,534,520...68,539,279
Ensembl chr10:68,534,796...68,539,279
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00508
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00508 NCBI chr 8:43,726,834...43,745,784
Ensembl chr 8:43,726,855...43,744,714
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00508 NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,302
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00508 NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,671...41,362,974
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00508 NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,194...123,929,117
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00508 NCBI chr 4:94,861,500...94,913,743
Ensembl chr 4:94,861,694...94,878,921
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00508 NCBI chr 9:48,357,115...48,372,391
Ensembl chr 9:48,357,145...48,372,388
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00508 NCBI chr 9:121,045,211...121,112,393
Ensembl chr 9:121,045,232...121,113,693
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00508 NCBI chr 4:14,669,789...14,700,152
Ensembl chr 4:14,669,791...14,700,126
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00508 NCBI chr 2:7,076,778...7,081,502
Ensembl chr 2:7,076,778...7,081,429
JBrowse link
desmosterolosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00386 NCBI chr 1:7,600,616...7,612,861
Ensembl chr 1:7,598,735...7,612,811
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00386 NCBI chr 9:72,057,506...72,079,587
Ensembl chr 9:72,057,511...72,079,444
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00386 NCBI chr 6:157,483,794...157,519,060
Ensembl chr 6:157,483,783...157,579,161
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO SMPDB SMP:00386 NCBI chr  X:42,670,592...42,678,571 JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00386 NCBI chr14:14,976,259...15,010,701
Ensembl chr14:14,967,273...15,104,179
JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00386 NCBI chr 4:94,500,140...94,514,820
Ensembl chr 4:94,489,215...94,518,408
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00386 NCBI chr14:55,907,885...55,924,037
Ensembl chr14:55,880,316...55,923,988
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00386 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,225...84,402,956
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00386 NCBI chr16:27,936,225...27,957,261
Ensembl chr16:27,936,217...27,957,194
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00386 NCBI chr 4:87,720,747...87,743,037
Ensembl chr 4:87,720,118...87,742,992
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00386 NCBI chr14:101,131,372...101,254,739
Ensembl chr14:101,123,381...101,254,725
JBrowse link
G LOC100625049 isopentenyl-diphosphate Delta-isomerase 1 ISO SMPDB SMP:00386 NCBI chr10:68,534,520...68,539,279
Ensembl chr10:68,534,796...68,539,279
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00386
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00386 NCBI chr 8:43,726,834...43,745,784
Ensembl chr 8:43,726,855...43,744,714
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00386 NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,302
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00386 NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,671...41,362,974
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00386 NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,194...123,929,117
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00386 NCBI chr 4:94,861,500...94,913,743
Ensembl chr 4:94,861,694...94,878,921
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00386 NCBI chr 9:48,357,115...48,372,391
Ensembl chr 9:48,357,145...48,372,388
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00386 NCBI chr 9:121,045,211...121,112,393
Ensembl chr 9:121,045,232...121,113,693
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00386 NCBI chr 4:14,669,789...14,700,152
Ensembl chr 4:14,669,791...14,700,126
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00386 NCBI chr 2:7,076,778...7,081,502
Ensembl chr 2:7,076,778...7,081,429
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 chr 2:72,704,603...72,767,474
Ensembl chr 2:72,743,875...72,769,570
JBrowse link
G ACER3 alkaline ceramidase 3 ISO SMPDB SMP:00525 NCBI chr 9:10,985,078...11,167,386
Ensembl chr 9:10,951,561...11,165,493
JBrowse link
G ARSA arylsulfatase A ISO SMPDB SMP:00525 NCBI chr 5:107,103...110,330
Ensembl chr 5:107,149...111,518
JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00525 NCBI chr 6:115,525,515...115,593,265
Ensembl chr 6:115,505,710...115,592,726
JBrowse link
G CERK ceramide kinase ISO SMPDB SMP:00525 NCBI chr 5:2,818,738...2,870,200
Ensembl chr 5:2,818,784...2,870,200
JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00525 NCBI chr 7:121,058,102...121,131,612
Ensembl chr 7:121,058,101...121,076,329
JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00525 NCBI chr12:2,612,543...2,619,541
Ensembl chr12:2,612,574...2,619,519
JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00525 NCBI chr14:47,455,089...47,476,459
Ensembl chr14:47,457,784...47,485,609
JBrowse link
G GALC galactosylceramidase ISO SMPDB SMP:00525 NCBI chr 7:109,894,576...109,961,407
Ensembl chr 7:109,894,188...109,961,407
JBrowse link
G GBA glucosylceramidase beta ISO SMPDB SMP:00525 NCBI chr 4:94,583,905...94,606,689
Ensembl chr 4:94,584,196...94,609,745
JBrowse link
G GLA galactosidase alpha ISO SMPDB SMP:00525 NCBI chr  X:83,024,582...83,032,273
Ensembl chr  X:83,023,903...83,032,284
JBrowse link
G GLB1 galactosidase beta 1 ISO SMPDB SMP:00525 NCBI chr13:18,878,407...18,978,999
Ensembl chr13:18,878,612...18,953,146
JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00525 NCBI chr 1:158,288,544...158,329,898
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
G NEU3 neuraminidase 3 ISO SMPDB SMP:00525 NCBI chr 9:9,315,263...9,333,878
Ensembl chr 9:9,315,301...9,334,918
JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00525 NCBI chr16:34,604,367...34,741,524
Ensembl chr16:34,600,719...34,744,437
JBrowse link
G SGMS1 sphingomyelin synthase 1 ISO SMPDB SMP:00525 NCBI chr14:99,147,266...99,458,111
Ensembl chr14:99,147,272...99,455,902
JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00525 NCBI chr14:73,696,902...73,781,830
Ensembl chr14:73,723,800...73,781,830
JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00525 NCBI chr15:124,316,309...124,462,855
Ensembl chr15:124,318,271...124,462,851
JBrowse link
G SPHK2 sphingosine kinase 2 ISO SMPDB SMP:00525 NCBI chr 6:53,982,911...53,986,779
Ensembl chr 6:53,979,012...53,986,770
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00525 NCBI chr14:3,081,964...3,138,113
Ensembl chr14:3,081,969...3,138,103
JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00525 NCBI chr 7:100,545,360...100,638,973
Ensembl chr 7:100,544,478...100,638,907
JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00525 NCBI chr 1:252,651,850...252,690,817
Ensembl chr 1:252,651,879...252,688,550
JBrowse link
G UGT8 UDP glycosyltransferase 8 ISO SMPDB SMP:00525 NCBI chr 8:108,233,134...108,315,284
Ensembl chr 8:108,233,139...108,314,921
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 chr 7:24,205,930...24,208,430
Ensembl chr 7:24,204,902...24,213,193
JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00530 NCBI chr18:14,593,516...14,752,316
Ensembl chr18:14,593,548...14,752,310
JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00530 NCBI chr12:59,895,476...59,905,900
Ensembl chr12:59,897,496...59,905,967
JBrowse link
G DGKA diacylglycerol kinase alpha ISO SMPDB SMP:00530 NCBI chr 5:21,331,473...21,355,614
Ensembl chr 5:21,331,473...21,355,535
JBrowse link
G GK glycerol kinase ISO SMPDB SMP:00530 NCBI chr  X:26,470,422...26,558,892 JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00530 NCBI chr13:34,433,403...34,440,037
Ensembl chr13:34,433,398...34,440,288
JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00530 NCBI chr14:122,538,600...122,582,390
Ensembl chr14:122,538,600...122,724,131
JBrowse link
G GPD1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00530 NCBI chr 5:16,008,179...16,021,676
Ensembl chr 5:16,007,448...16,017,825
JBrowse link
G GPD2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00530 NCBI chr15:63,592,723...63,728,636
Ensembl chr15:63,592,698...63,728,634
JBrowse link
G LIPC lipase C, hepatic type ISO SMPDB SMP:00530 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,679...113,604,306
JBrowse link
G LPL lipoprotein lipase ISO SMPDB SMP:00530 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00530 NCBI chr16:34,604,367...34,741,524
Ensembl chr16:34,600,719...34,744,437
JBrowse link
G PLPP2 phospholipid phosphatase 2 ISO SMPDB SMP:00530 NCBI chr 2:77,945,760...77,957,318
Ensembl chr 2:77,945,782...77,957,313
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 chr 2:72,704,603...72,767,474
Ensembl chr 2:72,743,875...72,769,570
JBrowse link
G ACER3 alkaline ceramidase 3 ISO SMPDB SMP:00349 NCBI chr 9:10,985,078...11,167,386
Ensembl chr 9:10,951,561...11,165,493
JBrowse link
G ARSA arylsulfatase A ISO SMPDB SMP:00349 NCBI chr 5:107,103...110,330
Ensembl chr 5:107,149...111,518
JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00349 NCBI chr 6:115,525,515...115,593,265
Ensembl chr 6:115,505,710...115,592,726
JBrowse link
G CERK ceramide kinase ISO SMPDB SMP:00349 NCBI chr 5:2,818,738...2,870,200
Ensembl chr 5:2,818,784...2,870,200
JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00349 NCBI chr 7:121,058,102...121,131,612
Ensembl chr 7:121,058,101...121,076,329
JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00349 NCBI chr12:2,612,543...2,619,541
Ensembl chr12:2,612,574...2,619,519
JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00349 NCBI chr14:47,455,089...47,476,459
Ensembl chr14:47,457,784...47,485,609
JBrowse link
G GALC galactosylceramidase ISO SMPDB SMP:00349 NCBI chr 7:109,894,576...109,961,407
Ensembl chr 7:109,894,188...109,961,407
JBrowse link
G GBA glucosylceramidase beta ISO SMPDB SMP:00349 NCBI chr 4:94,583,905...94,606,689
Ensembl chr 4:94,584,196...94,609,745
JBrowse link
G GLA galactosidase alpha ISO SMPDB SMP:00349 NCBI chr  X:83,024,582...83,032,273
Ensembl chr  X:83,023,903...83,032,284
JBrowse link
G GLB1 galactosidase beta 1 ISO SMPDB SMP:00349 NCBI chr13:18,878,407...18,978,999
Ensembl chr13:18,878,612...18,953,146
JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00349 NCBI chr 1:158,288,544...158,329,898
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
G NEU3 neuraminidase 3 ISO SMPDB SMP:00349 NCBI chr 9:9,315,263...9,333,878
Ensembl chr 9:9,315,301...9,334,918
JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00349 NCBI chr16:34,604,367...34,741,524
Ensembl chr16:34,600,719...34,744,437
JBrowse link
G SGMS1 sphingomyelin synthase 1 ISO SMPDB SMP:00349 NCBI chr14:99,147,266...99,458,111
Ensembl chr14:99,147,272...99,455,902
JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00349 NCBI chr14:73,696,902...73,781,830
Ensembl chr14:73,723,800...73,781,830
JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00349 NCBI chr15:124,316,309...124,462,855
Ensembl chr15:124,318,271...124,462,851
JBrowse link
G SPHK2 sphingosine kinase 2 ISO SMPDB SMP:00349 NCBI chr 6:53,982,911...53,986,779
Ensembl chr 6:53,979,012...53,986,770
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00349 NCBI chr14:3,081,964...3,138,113
Ensembl chr14:3,081,969...3,138,103
JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00349 NCBI chr 7:100,545,360...100,638,973
Ensembl chr 7:100,544,478...100,638,907
JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00349 NCBI chr 1:252,651,850...252,690,817
Ensembl chr 1:252,651,879...252,688,550
JBrowse link
G UGT8 UDP glycosyltransferase 8 ISO SMPDB SMP:00349 NCBI chr 8:108,233,134...108,315,284
Ensembl chr 8:108,233,139...108,314,921
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 chr 1:7,600,616...7,612,861
Ensembl chr 1:7,598,735...7,612,811
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00209 NCBI chr 9:72,057,506...72,079,587
Ensembl chr 9:72,057,511...72,079,444
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00209 NCBI chr 6:157,483,794...157,519,060
Ensembl chr 6:157,483,783...157,579,161
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO SMPDB SMP:00209 NCBI chr  X:42,670,592...42,678,571 JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00209 NCBI chr14:14,976,259...15,010,701
Ensembl chr14:14,967,273...15,104,179
JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00209 NCBI chr 4:94,500,140...94,514,820
Ensembl chr 4:94,489,215...94,518,408
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00209 NCBI chr14:55,907,885...55,924,037
Ensembl chr14:55,880,316...55,923,988
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00209 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,225...84,402,956
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00209 NCBI chr16:27,936,225...27,957,261
Ensembl chr16:27,936,217...27,957,194
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00209 NCBI chr 4:87,720,747...87,743,037
Ensembl chr 4:87,720,118...87,742,992
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00209 NCBI chr14:101,131,372...101,254,739
Ensembl chr14:101,123,381...101,254,725
JBrowse link
G LOC100625049 isopentenyl-diphosphate Delta-isomerase 1 ISO SMPDB SMP:00209 NCBI chr10:68,534,520...68,539,279
Ensembl chr10:68,534,796...68,539,279
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00209
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00209 NCBI chr 8:43,726,834...43,745,784
Ensembl chr 8:43,726,855...43,744,714
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00209 NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,302
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00209 NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,671...41,362,974
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00209 NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,194...123,929,117
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00209 NCBI chr 4:94,861,500...94,913,743
Ensembl chr 4:94,861,694...94,878,921
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00209 NCBI chr 9:48,357,115...48,372,391
Ensembl chr 9:48,357,145...48,372,388
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00209 NCBI chr 9:121,045,211...121,112,393
Ensembl chr 9:121,045,232...121,113,693
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00209 NCBI chr 4:14,669,789...14,700,152
Ensembl chr 4:14,669,791...14,700,126
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00209 NCBI chr 2:7,076,778...7,081,502
Ensembl chr 2:7,076,778...7,081,429
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 chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00542 NCBI chr15:112,935,631...112,969,381
Ensembl chr15:112,933,498...112,969,578
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00542 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00542 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00542 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00542 NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,401...52,581,755
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00542 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00542 NCBI chr15:45,866,858...45,936,327
Ensembl chr15:45,866,851...46,090,099
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00542 NCBI chr 2:4,250,642...4,293,914
Ensembl chr 2:4,233,099...4,293,984
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00542 NCBI chr 6:159,038,129...159,061,327
Ensembl chr 6:159,036,821...159,061,327
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00542 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00542 NCBI chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00542 NCBI chr 3:112,753,343...112,797,627
Ensembl chr 3:112,752,865...112,797,735
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00542 NCBI chr 3:112,712,894...112,753,121
Ensembl chr 3:112,704,023...112,753,086
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 chr 2:72,704,603...72,767,474
Ensembl chr 2:72,743,875...72,769,570
JBrowse link
G ACER3 alkaline ceramidase 3 ISO SMPDB SMP:00347 NCBI chr 9:10,985,078...11,167,386
Ensembl chr 9:10,951,561...11,165,493
JBrowse link
G ARSA arylsulfatase A ISO SMPDB SMP:00347 NCBI chr 5:107,103...110,330
Ensembl chr 5:107,149...111,518
JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00347 NCBI chr 6:115,525,515...115,593,265
Ensembl chr 6:115,505,710...115,592,726
JBrowse link
G CERK ceramide kinase ISO SMPDB SMP:00347 NCBI chr 5:2,818,738...2,870,200
Ensembl chr 5:2,818,784...2,870,200
JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00347 NCBI chr 7:121,058,102...121,131,612
Ensembl chr 7:121,058,101...121,076,329
JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00347 NCBI chr12:2,612,543...2,619,541
Ensembl chr12:2,612,574...2,619,519
JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00347 NCBI chr14:47,455,089...47,476,459
Ensembl chr14:47,457,784...47,485,609
JBrowse link
G GALC galactosylceramidase ISO SMPDB SMP:00347 NCBI chr 7:109,894,576...109,961,407
Ensembl chr 7:109,894,188...109,961,407
JBrowse link
G GBA glucosylceramidase beta ISO SMPDB SMP:00347 NCBI chr 4:94,583,905...94,606,689
Ensembl chr 4:94,584,196...94,609,745
JBrowse link
G GLA galactosidase alpha ISO SMPDB SMP:00347 NCBI chr  X:83,024,582...83,032,273
Ensembl chr  X:83,023,903...83,032,284
JBrowse link
G GLB1 galactosidase beta 1 ISO SMPDB SMP:00347 NCBI chr13:18,878,407...18,978,999
Ensembl chr13:18,878,612...18,953,146
JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00347 NCBI chr 1:158,288,544...158,329,898
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
G NEU3 neuraminidase 3 ISO SMPDB SMP:00347 NCBI chr 9:9,315,263...9,333,878
Ensembl chr 9:9,315,301...9,334,918
JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00347 NCBI chr16:34,604,367...34,741,524
Ensembl chr16:34,600,719...34,744,437
JBrowse link
G SGMS1 sphingomyelin synthase 1 ISO SMPDB SMP:00347 NCBI chr14:99,147,266...99,458,111
Ensembl chr14:99,147,272...99,455,902
JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00347 NCBI chr14:73,696,902...73,781,830
Ensembl chr14:73,723,800...73,781,830
JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00347 NCBI chr15:124,316,309...124,462,855
Ensembl chr15:124,318,271...124,462,851
JBrowse link
G SPHK2 sphingosine kinase 2 ISO SMPDB SMP:00347 NCBI chr 6:53,982,911...53,986,779
Ensembl chr 6:53,979,012...53,986,770
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00347 NCBI chr14:3,081,964...3,138,113
Ensembl chr14:3,081,969...3,138,103
JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00347 NCBI chr 7:100,545,360...100,638,973
Ensembl chr 7:100,544,478...100,638,907
JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00347 NCBI chr 1:252,651,850...252,690,817
Ensembl chr 1:252,651,879...252,688,550
JBrowse link
G UGT8 UDP glycosyltransferase 8 ISO SMPDB SMP:00347 NCBI chr 8:108,233,134...108,315,284
Ensembl chr 8:108,233,139...108,314,921
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 chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00235 NCBI chr15:112,935,631...112,969,381
Ensembl chr15:112,933,498...112,969,578
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00235 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00235 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00235 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00235 NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,401...52,581,755
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00235 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00235 NCBI chr15:45,866,858...45,936,327
Ensembl chr15:45,866,851...46,090,099
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00235 NCBI chr 2:4,250,642...4,293,914
Ensembl chr 2:4,233,099...4,293,984
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00235 NCBI chr 6:159,038,129...159,061,327
Ensembl chr 6:159,036,821...159,061,327
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00235 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00235 NCBI chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00235 NCBI chr 3:112,753,343...112,797,627
Ensembl chr 3:112,752,865...112,797,735
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00235 NCBI chr 3:112,712,894...112,753,121
Ensembl chr 3:112,704,023...112,753,086
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 chr 1:7,600,616...7,612,861
Ensembl chr 1:7,598,735...7,612,811
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00389 NCBI chr 9:72,057,506...72,079,587
Ensembl chr 9:72,057,511...72,079,444
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00389 NCBI chr 6:157,483,794...157,519,060
Ensembl chr 6:157,483,783...157,579,161
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO SMPDB SMP:00389 NCBI chr  X:42,670,592...42,678,571 JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00389 NCBI chr14:14,976,259...15,010,701
Ensembl chr14:14,967,273...15,104,179
JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00389 NCBI chr 4:94,500,140...94,514,820
Ensembl chr 4:94,489,215...94,518,408
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00389 NCBI chr14:55,907,885...55,924,037
Ensembl chr14:55,880,316...55,923,988
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00389 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,225...84,402,956
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00389 NCBI chr16:27,936,225...27,957,261
Ensembl chr16:27,936,217...27,957,194
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00389 NCBI chr 4:87,720,747...87,743,037
Ensembl chr 4:87,720,118...87,742,992
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00389 NCBI chr14:101,131,372...101,254,739
Ensembl chr14:101,123,381...101,254,725
JBrowse link
G LOC100625049 isopentenyl-diphosphate Delta-isomerase 1 ISO SMPDB SMP:00389 NCBI chr10:68,534,520...68,539,279
Ensembl chr10:68,534,796...68,539,279
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00389
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00389 NCBI chr 8:43,726,834...43,745,784
Ensembl chr 8:43,726,855...43,744,714
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00389 NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,302
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00389 NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,671...41,362,974
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00389 NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,194...123,929,117
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00389 NCBI chr 4:94,861,500...94,913,743
Ensembl chr 4:94,861,694...94,878,921
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00389 NCBI chr 9:48,357,115...48,372,391
Ensembl chr 9:48,357,145...48,372,388
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00389 NCBI chr 9:121,045,211...121,112,393
Ensembl chr 9:121,045,232...121,113,693
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00389 NCBI chr 4:14,669,789...14,700,152
Ensembl chr 4:14,669,791...14,700,126
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00389 NCBI chr 2:7,076,778...7,081,502
Ensembl chr 2:7,076,778...7,081,429
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 chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00545 NCBI chr15:112,935,631...112,969,381
Ensembl chr15:112,933,498...112,969,578
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00545 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00545 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00545 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00545 NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,401...52,581,755
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00545 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00545 NCBI chr15:45,866,858...45,936,327
Ensembl chr15:45,866,851...46,090,099
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00545 NCBI chr 2:4,250,642...4,293,914
Ensembl chr 2:4,233,099...4,293,984
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00545 NCBI chr 6:159,038,129...159,061,327
Ensembl chr 6:159,036,821...159,061,327
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00545 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00545 NCBI chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00545 NCBI chr 3:112,753,343...112,797,627
Ensembl chr 3:112,752,865...112,797,735
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00545 NCBI chr 3:112,712,894...112,753,121
Ensembl chr 3:112,704,023...112,753,086
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 chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00540 NCBI chr15:112,935,631...112,969,381
Ensembl chr15:112,933,498...112,969,578
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00540 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00540 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00540 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00540 NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,401...52,581,755
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00540 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00540 NCBI chr15:45,866,858...45,936,327
Ensembl chr15:45,866,851...46,090,099
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00540 NCBI chr 2:4,250,642...4,293,914
Ensembl chr 2:4,233,099...4,293,984
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00540 NCBI chr 6:159,038,129...159,061,327
Ensembl chr 6:159,036,821...159,061,327
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00540 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00540 NCBI chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00540 NCBI chr 3:112,753,343...112,797,627
Ensembl chr 3:112,752,865...112,797,735
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00540 NCBI chr 3:112,712,894...112,753,121
Ensembl chr 3:112,704,023...112,753,086
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 chr 1:7,600,616...7,612,861
Ensembl chr 1:7,598,735...7,612,811
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 9:72,057,506...72,079,587
Ensembl chr 9:72,057,511...72,079,444
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 6:157,483,794...157,519,060
Ensembl chr 6:157,483,783...157,579,161
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO SMPDB SMP:00319 SMP:00511 NCBI chr  X:42,670,592...42,678,571 JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr14:14,976,259...15,010,701
Ensembl chr14:14,967,273...15,104,179
JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 4:94,500,140...94,514,820
Ensembl chr 4:94,489,215...94,518,408
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr14:55,907,885...55,924,037
Ensembl chr14:55,880,316...55,923,988
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,225...84,402,956
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr16:27,936,225...27,957,261
Ensembl chr16:27,936,217...27,957,194
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 4:87,720,747...87,743,037
Ensembl chr 4:87,720,118...87,742,992
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00319 SMP:00511 NCBI chr14:101,131,372...101,254,739
Ensembl chr14:101,123,381...101,254,725
JBrowse link
G LOC100625049 isopentenyl-diphosphate Delta-isomerase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr10:68,534,520...68,539,279
Ensembl chr10:68,534,796...68,539,279
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00319 SMP:00511
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 8:43,726,834...43,745,784
Ensembl chr 8:43,726,855...43,744,714
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,302
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,671...41,362,974
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00319 SMP:00511 NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,194...123,929,117
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 4:94,861,500...94,913,743
Ensembl chr 4:94,861,694...94,878,921
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 9:48,357,115...48,372,391
Ensembl chr 9:48,357,145...48,372,388
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 9:121,045,211...121,112,393
Ensembl chr 9:121,045,232...121,113,693
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 4:14,669,789...14,700,152
Ensembl chr 4:14,669,791...14,700,126
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 2:7,076,778...7,081,502
Ensembl chr 2:7,076,778...7,081,429
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4015
    disease pathway 709
      nutritional and metabolic disease pathway 572
        metabolic disease pathway 534
          lipid metabolism disease pathway 94
            hypercholesterolemia pathway 22
            inborn error of lipid metabolism pathway + 94
            xanthomatosis pathway + 16
paths to the root