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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 7:79,028,636...79,057,720 JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00538 NCBI chr37:18,028,244...18,073,975
Ensembl chr37:18,017,087...18,073,862
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00538 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00538 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00538 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00538 NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00538 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00538 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00538 NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00538 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00538 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00538 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00538 NCBI chr17:20,307,207...20,355,659
Ensembl chr17:20,307,226...20,355,508
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00538 NCBI chr17:20,355,778...20,399,869 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:121,545,690...121,564,117
Ensembl chr  X:121,545,586...121,563,186
JBrowse link
G ABCD2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00517 NCBI chr27:14,015,093...14,084,362
Ensembl chr27:14,015,091...14,163,312
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00517 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809
JBrowse link
G CRAT carnitine O-acetyltransferase ISO SMPDB SMP:00517 NCBI chr 9:54,566,708...54,580,301
Ensembl chr 9:54,566,407...54,580,025
JBrowse link
G CROT carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chr14:13,475,130...13,532,536
Ensembl chr14:13,475,235...13,532,536
JBrowse link
G PEX11G peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chr20:52,284,674...52,292,922
Ensembl chr20:52,282,762...52,292,888
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chr10:61,113,213...61,130,157
Ensembl chr10:61,123,655...61,193,241
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00517 NCBI chr 2:85,224,376...85,362,684
Ensembl chr 2:85,224,365...85,389,069
JBrowse link
G SLC25A20 solute carrier family 25 member 20 ISO SMPDB SMP:00517 NCBI chr20:40,244,222...40,271,100
Ensembl chr20:40,244,229...40,270,433
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 chr20:32,110,788...32,141,751
Ensembl chr20:32,113,217...32,141,734
JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00315 NCBI chr16:1,499,251...1,583,965 JBrowse link
G AMACR alpha-methylacyl-CoA racemase ISO SMPDB SMP:00315 NCBI chr 4:73,815,438...73,836,016
Ensembl chr 4:73,815,291...73,867,437
JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase ISO SMPDB SMP:00315 NCBI chr11:58,102,057...58,116,750
Ensembl chr11:58,102,592...58,109,389
JBrowse link
G CH25H cholesterol 25-hydroxylase ISO SMPDB SMP:00315 NCBI chr26:38,884,356...38,885,728 JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509
JBrowse link
G CYP39A1 cytochrome P450 family 39 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr12:14,728,289...14,818,264
Ensembl chr12:14,729,063...14,867,888
JBrowse link
G CYP46A1 cytochrome P450 family 46 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr 8:68,064,898...68,095,537
Ensembl chr 8:68,041,344...68,095,212
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr29:9,285,315...9,295,895
Ensembl chr29:9,286,181...9,332,310
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00315 NCBI chr29:14,443,036...14,613,839
Ensembl chr29:14,444,853...14,613,755
JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00315 NCBI chr23:11,965,685...11,968,994
Ensembl chr23:11,967,341...11,968,846
JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00315 NCBI chr11:8,717,182...8,810,716
Ensembl chr11:8,717,349...8,824,594
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00315 NCBI chr 6:17,220,006...17,223,985
Ensembl chr 6:17,219,574...17,223,114
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00315 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436
JBrowse link
G SCP2 sterol carrier protein 2 ISO SMPDB SMP:00315 NCBI chr 5:55,860,053...55,971,657
Ensembl chr 5:55,860,549...55,964,014
JBrowse link
G SLC27A5 solute carrier family 27 member 5 ISO SMPDB SMP:00315 NCBI chr 1:99,435,140...99,438,388 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 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00508 NCBI chr14:17,746,654...17,767,019
Ensembl chr14:17,746,656...17,766,658
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00508 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921
JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00508 NCBI chr25:26,060,031...26,093,515
Ensembl chr25:26,060,386...26,093,582
JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00508 NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00508 NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00508 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00508 NCBI chr 4:66,633,706...66,654,005
Ensembl chr 4:66,633,572...66,652,196
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00508 NCBI chr38:19,975,935...19,999,077
Ensembl chr38:19,977,086...19,999,010
JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00508 NCBI chr 2:33,927,759...33,930,651 JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00508 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00508 NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042
JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00508 NCBI chr15:61,293,769...61,307,285
Ensembl chr  X:8,144,335...8,145,216
Ensembl chr15:8,144,335...8,145,216
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00508 NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00508 NCBI chr26:17,497,516...17,519,015
Ensembl chr26:17,497,513...17,519,385
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00508 NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00508 NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00508 NCBI chr 5:12,760,591...12,774,484
Ensembl chr 5:12,763,286...12,775,393
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00508 NCBI chr 7:20,481,386...20,556,706
Ensembl chr 7:20,486,069...20,546,055
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00508 NCBI chr13:22,994,010...23,018,134
Ensembl chr13:22,993,862...23,017,978
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00508 NCBI chr18:52,079,367...52,083,762
Ensembl chr18:52,079,425...52,085,390
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 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00386 NCBI chr14:17,746,654...17,767,019
Ensembl chr14:17,746,656...17,766,658
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00386 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921
JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00386 NCBI chr25:26,060,031...26,093,515
Ensembl chr25:26,060,386...26,093,582
JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00386 NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00386 NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00386 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00386 NCBI chr 4:66,633,706...66,654,005
Ensembl chr 4:66,633,572...66,652,196
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00386 NCBI chr38:19,975,935...19,999,077
Ensembl chr38:19,977,086...19,999,010
JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00386 NCBI chr 2:33,927,759...33,930,651 JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00386 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00386 NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042
JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00386 NCBI chr15:61,293,769...61,307,285
Ensembl chr  X:8,144,335...8,145,216
Ensembl chr15:8,144,335...8,145,216
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00386 NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00386 NCBI chr26:17,497,516...17,519,015
Ensembl chr26:17,497,513...17,519,385
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00386 NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00386 NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00386 NCBI chr 5:12,760,591...12,774,484
Ensembl chr 5:12,763,286...12,775,393
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00386 NCBI chr 7:20,481,386...20,556,706
Ensembl chr 7:20,486,069...20,546,055
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00386 NCBI chr13:22,994,010...23,018,134
Ensembl chr13:22,993,862...23,017,978
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00386 NCBI chr18:52,079,367...52,083,762
Ensembl chr18:52,079,425...52,085,390
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 chr20:53,819,224...53,838,183
Ensembl chr20:53,819,074...53,838,438
JBrowse link
G ACER3 alkaline ceramidase 3 ISO SMPDB SMP:00525 NCBI chr21:21,711,315...21,863,409
Ensembl chr21:21,714,156...21,863,320
JBrowse link
G ARSA arylsulfatase A ISO SMPDB SMP:00525 NCBI chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398
JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00525 NCBI chr 7:57,849,872...57,917,289
Ensembl chr 7:57,849,884...57,914,360
JBrowse link
G CERK ceramide kinase ISO SMPDB SMP:00525 NCBI chr10:19,560,125...19,601,223
Ensembl chr10:19,556,087...19,598,954
JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00525 NCBI chr 8:68,461,461...68,483,685
Ensembl chr 8:68,462,555...68,533,062
JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00525 NCBI chr 9:1,887,093...1,894,728
Ensembl chr 9:1,887,201...1,897,473
JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00525 NCBI chr26:23,634,884...23,654,205
Ensembl chr26:23,637,844...23,646,219
JBrowse link
G GALC galactosylceramidase ISO SMPDB SMP:00525 NCBI chr 8:59,266,693...59,324,825
Ensembl chr 8:59,267,818...59,324,967
JBrowse link
G GBA glucosylceramidase beta ISO SMPDB SMP:00525 NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864
JBrowse link
G GLA galactosidase alpha ISO SMPDB SMP:00525 NCBI chr  X:75,311,536...75,320,391
Ensembl chr  X:75,311,536...75,320,249
JBrowse link
G GLB1 galactosidase beta 1 ISO SMPDB SMP:00525 NCBI chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191
JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00525 NCBI chr 1:13,682,838...13,726,872
Ensembl chr 1:13,689,246...13,723,528
JBrowse link
G NEU3 neuraminidase 3 ISO SMPDB SMP:00525 NCBI chr21:23,456,424...23,484,872 JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00525 NCBI chr 2:42,761,712...42,854,515
Ensembl chr 2:42,763,026...42,854,802
JBrowse link
G SGMS1 sphingomyelin synthase 1 ISO SMPDB SMP:00525 NCBI chr26:37,243,388...37,472,806
Ensembl chr26:37,244,900...37,348,802
JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00525 NCBI chr 4:21,666,264...21,717,476
Ensembl chr 4:21,660,939...21,715,155
JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00525 NCBI chr37:28,536,815...28,639,380 JBrowse link
G SPHK2 sphingosine kinase 2 ISO SMPDB SMP:00525 NCBI chr 1:107,681,425...107,689,790
Ensembl chr 1:107,680,599...107,689,707
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00525 NCBI chr 1:94,997,240...95,062,424
Ensembl chr 1:94,997,290...95,064,468
JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00525 NCBI chr 8:50,291,797...50,401,202
Ensembl chr 8:50,271,010...50,401,313
JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00525 NCBI chr11:66,439,346...66,472,897
Ensembl chr11:66,439,346...66,472,897
JBrowse link
G UGT8 UDP glycosyltransferase 8 ISO SMPDB SMP:00525 NCBI chr32:34,148,874...34,250,891
Ensembl chr32:34,179,247...34,233,116
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 chr12:1,561,494...1,570,754
Ensembl chr12:1,558,684...1,568,962
JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00530 NCBI chr14:2,991,888...3,006,941
Ensembl chr14:2,991,888...3,006,940
JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00530 NCBI chr 5:40,466,237...40,474,272
Ensembl chr 5:40,466,237...40,474,457
JBrowse link
G DGKA diacylglycerol kinase alpha ISO SMPDB SMP:00530 NCBI chr10:269,819...292,533
Ensembl chr10:270,998...292,352
JBrowse link
G GK glycerol kinase ISO SMPDB SMP:00530 NCBI chr  X:25,748,060...25,834,462 JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00530 NCBI chr20:37,462,651...37,495,581
Ensembl chr20:37,462,659...37,465,807
JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00530 NCBI chr28:23,261,673...23,323,985
Ensembl chr28:23,258,428...23,298,017
JBrowse link
G GPD1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00530 NCBI chr27:4,614,878...4,622,013
Ensembl chr27:4,614,864...4,621,922
JBrowse link
G GPD2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00530 NCBI chr36:2,678,749...2,780,173
Ensembl chr36:2,681,188...2,777,535
JBrowse link
G LIPC lipase C, hepatic type ISO SMPDB SMP:00530 NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037
JBrowse link
G LPL lipoprotein lipase ISO SMPDB SMP:00530 NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700
JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00530 NCBI chr 2:42,761,712...42,854,515
Ensembl chr 2:42,763,026...42,854,802
JBrowse link
G PLPP2 phospholipid phosphatase 2 ISO SMPDB SMP:00530 NCBI chr20:58,083,902...58,095,621
Ensembl chr20:58,087,289...58,095,421
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 chr20:53,819,224...53,838,183
Ensembl chr20:53,819,074...53,838,438
JBrowse link
G ACER3 alkaline ceramidase 3 ISO SMPDB SMP:00349 NCBI chr21:21,711,315...21,863,409
Ensembl chr21:21,714,156...21,863,320
JBrowse link
G ARSA arylsulfatase A ISO SMPDB SMP:00349 NCBI chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398
JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00349 NCBI chr 7:57,849,872...57,917,289
Ensembl chr 7:57,849,884...57,914,360
JBrowse link
G CERK ceramide kinase ISO SMPDB SMP:00349 NCBI chr10:19,560,125...19,601,223
Ensembl chr10:19,556,087...19,598,954
JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00349 NCBI chr 8:68,461,461...68,483,685
Ensembl chr 8:68,462,555...68,533,062
JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00349 NCBI chr 9:1,887,093...1,894,728
Ensembl chr 9:1,887,201...1,897,473
JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00349 NCBI chr26:23,634,884...23,654,205
Ensembl chr26:23,637,844...23,646,219
JBrowse link
G GALC galactosylceramidase ISO SMPDB SMP:00349 NCBI chr 8:59,266,693...59,324,825
Ensembl chr 8:59,267,818...59,324,967
JBrowse link
G GBA glucosylceramidase beta ISO SMPDB SMP:00349 NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864
JBrowse link
G GLA galactosidase alpha ISO SMPDB SMP:00349 NCBI chr  X:75,311,536...75,320,391
Ensembl chr  X:75,311,536...75,320,249
JBrowse link
G GLB1 galactosidase beta 1 ISO SMPDB SMP:00349 NCBI chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191
JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00349 NCBI chr 1:13,682,838...13,726,872
Ensembl chr 1:13,689,246...13,723,528
JBrowse link
G NEU3 neuraminidase 3 ISO SMPDB SMP:00349 NCBI chr21:23,456,424...23,484,872 JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00349 NCBI chr 2:42,761,712...42,854,515
Ensembl chr 2:42,763,026...42,854,802
JBrowse link
G SGMS1 sphingomyelin synthase 1 ISO SMPDB SMP:00349 NCBI chr26:37,243,388...37,472,806
Ensembl chr26:37,244,900...37,348,802
JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00349 NCBI chr 4:21,666,264...21,717,476
Ensembl chr 4:21,660,939...21,715,155
JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00349 NCBI chr37:28,536,815...28,639,380 JBrowse link
G SPHK2 sphingosine kinase 2 ISO SMPDB SMP:00349 NCBI chr 1:107,681,425...107,689,790
Ensembl chr 1:107,680,599...107,689,707
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00349 NCBI chr 1:94,997,240...95,062,424
Ensembl chr 1:94,997,290...95,064,468
JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00349 NCBI chr 8:50,291,797...50,401,202
Ensembl chr 8:50,271,010...50,401,313
JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00349 NCBI chr11:66,439,346...66,472,897
Ensembl chr11:66,439,346...66,472,897
JBrowse link
G UGT8 UDP glycosyltransferase 8 ISO SMPDB SMP:00349 NCBI chr32:34,148,874...34,250,891
Ensembl chr32:34,179,247...34,233,116
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 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00209 NCBI chr14:17,746,654...17,767,019
Ensembl chr14:17,746,656...17,766,658
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00209 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921
JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00209 NCBI chr25:26,060,031...26,093,515
Ensembl chr25:26,060,386...26,093,582
JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00209 NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00209 NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00209 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00209 NCBI chr 4:66,633,706...66,654,005
Ensembl chr 4:66,633,572...66,652,196
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00209 NCBI chr38:19,975,935...19,999,077
Ensembl chr38:19,977,086...19,999,010
JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00209 NCBI chr 2:33,927,759...33,930,651 JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00209 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00209 NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042
JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00209 NCBI chr15:61,293,769...61,307,285
Ensembl chr  X:8,144,335...8,145,216
Ensembl chr15:8,144,335...8,145,216
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00209 NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00209 NCBI chr26:17,497,516...17,519,015
Ensembl chr26:17,497,513...17,519,385
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00209 NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00209 NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00209 NCBI chr 5:12,760,591...12,774,484
Ensembl chr 5:12,763,286...12,775,393
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00209 NCBI chr 7:20,481,386...20,556,706
Ensembl chr 7:20,486,069...20,546,055
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00209 NCBI chr13:22,994,010...23,018,134
Ensembl chr13:22,993,862...23,017,978
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00209 NCBI chr18:52,079,367...52,083,762
Ensembl chr18:52,079,425...52,085,390
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 7:79,028,636...79,057,720 JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00542 NCBI chr37:18,028,244...18,073,975
Ensembl chr37:18,017,087...18,073,862
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00542 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00542 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00542 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00542 NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00542 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00542 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00542 NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00542 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00542 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00542 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00542 NCBI chr17:20,307,207...20,355,659
Ensembl chr17:20,307,226...20,355,508
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00542 NCBI chr17:20,355,778...20,399,869 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 chr20:53,819,224...53,838,183
Ensembl chr20:53,819,074...53,838,438
JBrowse link
G ACER3 alkaline ceramidase 3 ISO SMPDB SMP:00347 NCBI chr21:21,711,315...21,863,409
Ensembl chr21:21,714,156...21,863,320
JBrowse link
G ARSA arylsulfatase A ISO SMPDB SMP:00347 NCBI chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398
JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00347 NCBI chr 7:57,849,872...57,917,289
Ensembl chr 7:57,849,884...57,914,360
JBrowse link
G CERK ceramide kinase ISO SMPDB SMP:00347 NCBI chr10:19,560,125...19,601,223
Ensembl chr10:19,556,087...19,598,954
JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00347 NCBI chr 8:68,461,461...68,483,685
Ensembl chr 8:68,462,555...68,533,062
JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00347 NCBI chr 9:1,887,093...1,894,728
Ensembl chr 9:1,887,201...1,897,473
JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00347 NCBI chr26:23,634,884...23,654,205
Ensembl chr26:23,637,844...23,646,219
JBrowse link
G GALC galactosylceramidase ISO SMPDB SMP:00347 NCBI chr 8:59,266,693...59,324,825
Ensembl chr 8:59,267,818...59,324,967
JBrowse link
G GBA glucosylceramidase beta ISO SMPDB SMP:00347 NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864
JBrowse link
G GLA galactosidase alpha ISO SMPDB SMP:00347 NCBI chr  X:75,311,536...75,320,391
Ensembl chr  X:75,311,536...75,320,249
JBrowse link
G GLB1 galactosidase beta 1 ISO SMPDB SMP:00347 NCBI chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191
JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00347 NCBI chr 1:13,682,838...13,726,872
Ensembl chr 1:13,689,246...13,723,528
JBrowse link
G NEU3 neuraminidase 3 ISO SMPDB SMP:00347 NCBI chr21:23,456,424...23,484,872 JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00347 NCBI chr 2:42,761,712...42,854,515
Ensembl chr 2:42,763,026...42,854,802
JBrowse link
G SGMS1 sphingomyelin synthase 1 ISO SMPDB SMP:00347 NCBI chr26:37,243,388...37,472,806
Ensembl chr26:37,244,900...37,348,802
JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00347 NCBI chr 4:21,666,264...21,717,476
Ensembl chr 4:21,660,939...21,715,155
JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00347 NCBI chr37:28,536,815...28,639,380 JBrowse link
G SPHK2 sphingosine kinase 2 ISO SMPDB SMP:00347 NCBI chr 1:107,681,425...107,689,790
Ensembl chr 1:107,680,599...107,689,707
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00347 NCBI chr 1:94,997,240...95,062,424
Ensembl chr 1:94,997,290...95,064,468
JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00347 NCBI chr 8:50,291,797...50,401,202
Ensembl chr 8:50,271,010...50,401,313
JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00347 NCBI chr11:66,439,346...66,472,897
Ensembl chr11:66,439,346...66,472,897
JBrowse link
G UGT8 UDP glycosyltransferase 8 ISO SMPDB SMP:00347 NCBI chr32:34,148,874...34,250,891
Ensembl chr32:34,179,247...34,233,116
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 7:79,028,636...79,057,720 JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00235 NCBI chr37:18,028,244...18,073,975
Ensembl chr37:18,017,087...18,073,862
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00235 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00235 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00235 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00235 NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00235 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00235 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00235 NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00235 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00235 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00235 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00235 NCBI chr17:20,307,207...20,355,659
Ensembl chr17:20,307,226...20,355,508
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00235 NCBI chr17:20,355,778...20,399,869 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 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00389 NCBI chr14:17,746,654...17,767,019
Ensembl chr14:17,746,656...17,766,658
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00389 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921
JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00389 NCBI chr25:26,060,031...26,093,515
Ensembl chr25:26,060,386...26,093,582
JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00389 NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00389 NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00389 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00389 NCBI chr 4:66,633,706...66,654,005
Ensembl chr 4:66,633,572...66,652,196
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00389 NCBI chr38:19,975,935...19,999,077
Ensembl chr38:19,977,086...19,999,010
JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00389 NCBI chr 2:33,927,759...33,930,651 JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00389 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00389 NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042
JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00389 NCBI chr15:61,293,769...61,307,285
Ensembl chr  X:8,144,335...8,145,216
Ensembl chr15:8,144,335...8,145,216
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00389 NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00389 NCBI chr26:17,497,516...17,519,015
Ensembl chr26:17,497,513...17,519,385
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00389 NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00389 NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00389 NCBI chr 5:12,760,591...12,774,484
Ensembl chr 5:12,763,286...12,775,393
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00389 NCBI chr 7:20,481,386...20,556,706
Ensembl chr 7:20,486,069...20,546,055
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00389 NCBI chr13:22,994,010...23,018,134
Ensembl chr13:22,993,862...23,017,978
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00389 NCBI chr18:52,079,367...52,083,762
Ensembl chr18:52,079,425...52,085,390
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 7:79,028,636...79,057,720 JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00545 NCBI chr37:18,028,244...18,073,975
Ensembl chr37:18,017,087...18,073,862
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00545 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00545 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00545 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00545 NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00545 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00545 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00545 NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00545 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00545 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00545 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00545 NCBI chr17:20,307,207...20,355,659
Ensembl chr17:20,307,226...20,355,508
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00545 NCBI chr17:20,355,778...20,399,869 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 7:79,028,636...79,057,720 JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00540 NCBI chr37:18,028,244...18,073,975
Ensembl chr37:18,017,087...18,073,862
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00540 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00540 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00540 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00540 NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00540 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00540 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00540 NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00540 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00540 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00540 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00540 NCBI chr17:20,307,207...20,355,659
Ensembl chr17:20,307,226...20,355,508
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00540 NCBI chr17:20,355,778...20,399,869 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 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr14:17,746,654...17,767,019
Ensembl chr14:17,746,656...17,766,658
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921
JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr25:26,060,031...26,093,515
Ensembl chr25:26,060,386...26,093,582
JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 4:66,633,706...66,654,005
Ensembl chr 4:66,633,572...66,652,196
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00319 SMP:00511 NCBI chr38:19,975,935...19,999,077
Ensembl chr38:19,977,086...19,999,010
JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 2:33,927,759...33,930,651 JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00319 SMP:00511 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042
JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr15:61,293,769...61,307,285
Ensembl chr  X:8,144,335...8,145,216
Ensembl chr15:8,144,335...8,145,216
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chr26:17,497,516...17,519,015
Ensembl chr26:17,497,513...17,519,385
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00319 SMP:00511 NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 5:12,760,591...12,774,484
Ensembl chr 5:12,763,286...12,775,393
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 7:20,481,386...20,556,706
Ensembl chr 7:20,486,069...20,546,055
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00319 SMP:00511 NCBI chr13:22,994,010...23,018,134
Ensembl chr13:22,993,862...23,017,978
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00319 SMP:00511 NCBI chr18:52,079,367...52,083,762
Ensembl chr18:52,079,425...52,085,390
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4028
    disease pathway 712
      nutritional and metabolic disease pathway 572
        metabolic disease pathway 532
          lipid metabolism disease pathway 93
            hypercholesterolemia pathway 21
            inborn error of lipid metabolism pathway + 93
            xanthomatosis pathway + 16
paths to the root