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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 chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249
JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00538 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00538 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00538 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00538 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO SMPDB SMP:00538 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00538 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00538 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00538 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00538 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00538 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00538 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00538 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00538 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
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:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00517 NCBI chr 7:122,263,034...122,311,642
Ensembl chr 7:122,263,032...122,311,642
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00517 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
JBrowse link
G Crat carnitine O-acetyltransferase ISO SMPDB SMP:00517 NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255
JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chr 4:25,068,270...25,133,111
Ensembl chr 4:25,080,587...25,133,109
JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chr12:1,502,606...1,532,347
Ensembl chr12:1,503,646...1,512,585
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00517 NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272
JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO SMPDB SMP:00517 NCBI chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512
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 chr15:16,660,584...16,692,160
Ensembl chr15:16,660,272...16,692,160
JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00315 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00315 NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00315 NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO SMPDB SMP:00315 NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00315 NCBI chr 1:232,014,877...232,016,195
Ensembl chr 1:232,014,880...232,016,195
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
JBrowse link
G Cyp39a1 cytochrome P450, family 39, subfamily a, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 9:17,230,455...17,306,775
Ensembl chr 9:17,230,455...17,306,775
JBrowse link
G Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 6:127,243,315...127,274,765
Ensembl chr 6:127,243,315...127,274,760
JBrowse link
G Cyp7a1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00315 NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
JBrowse link
G Cyp8b1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00315 NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO SMPDB SMP:00315 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00315 NCBI chr 1:182,411,836...182,415,447
Ensembl chr 1:182,412,151...182,415,442
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00315 NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
G Scp2 sterol carrier protein 2 ISO SMPDB SMP:00315 NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287
JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00315 NCBI chr 1:73,616,556...73,627,149
Ensembl chr 1:73,616,564...73,627,172
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 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00508 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00508 NCBI chr 5:121,344,637...121,368,853
Ensembl chr 5:121,344,575...121,371,137
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00508 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00508 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00508 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00508 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00508 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00508 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00508 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00508 NCBI chr17:61,629,592...61,637,357
Ensembl chr17:61,629,594...61,637,357
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00508 NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00508 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00508 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00508 NCBI chr19:50,496,366...50,506,389
Ensembl chr19:50,496,367...50,507,971
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00508 NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00508 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00508 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00508 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00508 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00508 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00508 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270
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 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00386 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00386 NCBI chr 5:121,344,637...121,368,853
Ensembl chr 5:121,344,575...121,371,137
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00386 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00386 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00386 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00386 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00386 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00386 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00386 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00386 NCBI chr17:61,629,592...61,637,357
Ensembl chr17:61,629,594...61,637,357
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00386 NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00386 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00386 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00386 NCBI chr19:50,496,366...50,506,389
Ensembl chr19:50,496,367...50,507,971
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00386 NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00386 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00386 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00386 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00386 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00386 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00386 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270
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 9:1,792,790...1,824,434
Ensembl chr 9:1,793,139...1,824,434
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00525 NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:152,504,186...152,606,591
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00525 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00525 NCBI chr18:11,958,382...12,015,247
Ensembl chr18:11,958,390...12,015,247
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00525 NCBI chr 7:117,225,855...117,269,436
Ensembl chr 7:117,225,855...117,268,759
JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00525 NCBI chr 6:127,596,063...127,613,293
Ensembl chr 6:127,596,071...127,613,293
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00525 NCBI chr10:104,242,223...104,246,589
Ensembl chr10:104,242,223...104,246,589
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00525 NCBI chr14:78,868,049...78,886,402
Ensembl chr14:78,870,793...78,886,388
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00525 NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830
JBrowse link
G Gba glucosylceramidase beta ISO SMPDB SMP:00525 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00525 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664
JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00525 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00525 NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00525 NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00525 NCBI chr 2:44,439,002...44,500,430
Ensembl chr 2:44,438,994...44,501,268
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00525 NCBI chr 1:229,996,673...230,259,591
Ensembl chr 1:229,998,119...230,259,603
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00525 NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00525 NCBI chr 9:79,762,658...79,884,665
Ensembl chr 9:79,763,284...79,880,457
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00525 NCBI chr 1:96,180,872...96,188,592
Ensembl chr 1:96,180,887...96,188,391
JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00525 NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00525 NCBI chr 6:106,948,681...107,031,584
Ensembl chr 6:106,950,949...107,031,542
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00525 NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00525 NCBI chr 2:214,264,483...214,332,769
Ensembl chr 2:214,264,483...214,332,660
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 chr20:4,135,955...4,144,880
Ensembl chr20:4,135,957...4,145,278
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00530 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00530 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681
JBrowse link
G Dgka diacylglycerol kinase, alpha ISO SMPDB SMP:00530 NCBI chr 7:1,148,734...1,175,324
Ensembl chr 7:1,148,735...1,175,110
JBrowse link
G Gk glycerol kinase ISO SMPDB SMP:00530 NCBI chr  X:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00530 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00530 NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639
JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00530 NCBI chr 7:130,842,526...130,851,530
Ensembl chr 7:130,844,138...130,851,529
JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00530 NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901
JBrowse link
G Lipc lipase C, hepatic type ISO SMPDB SMP:00530 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00530 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00530 NCBI chr 2:44,439,002...44,500,430
Ensembl chr 2:44,438,994...44,501,268
JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00530 NCBI chr 7:10,175,918...10,184,032
Ensembl chr 7:10,175,948...10,184,071
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 9:1,792,790...1,824,434
Ensembl chr 9:1,793,139...1,824,434
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00349 NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:152,504,186...152,606,591
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00349 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00349 NCBI chr18:11,958,382...12,015,247
Ensembl chr18:11,958,390...12,015,247
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00349 NCBI chr 7:117,225,855...117,269,436
Ensembl chr 7:117,225,855...117,268,759
JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00349 NCBI chr 6:127,596,063...127,613,293
Ensembl chr 6:127,596,071...127,613,293
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00349 NCBI chr10:104,242,223...104,246,589
Ensembl chr10:104,242,223...104,246,589
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00349 NCBI chr14:78,868,049...78,886,402
Ensembl chr14:78,870,793...78,886,388
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00349 NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830
JBrowse link
G Gba glucosylceramidase beta ISO SMPDB SMP:00349 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00349 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664
JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00349 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00349 NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00349 NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00349 NCBI chr 2:44,439,002...44,500,430
Ensembl chr 2:44,438,994...44,501,268
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00349 NCBI chr 1:229,996,673...230,259,591
Ensembl chr 1:229,998,119...230,259,603
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00349 NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00349 NCBI chr 9:79,762,658...79,884,665
Ensembl chr 9:79,763,284...79,880,457
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00349 NCBI chr 1:96,180,872...96,188,592
Ensembl chr 1:96,180,887...96,188,391
JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00349 NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00349 NCBI chr 6:106,948,681...107,031,584
Ensembl chr 6:106,950,949...107,031,542
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00349 NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00349 NCBI chr 2:214,264,483...214,332,769
Ensembl chr 2:214,264,483...214,332,660
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 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00209 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00209 NCBI chr 5:121,344,637...121,368,853
Ensembl chr 5:121,344,575...121,371,137
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00209 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00209 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00209 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00209 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00209 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00209 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00209 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00209 NCBI chr17:61,629,592...61,637,357
Ensembl chr17:61,629,594...61,637,357
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00209 NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00209 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00209 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00209 NCBI chr19:50,496,366...50,506,389
Ensembl chr19:50,496,367...50,507,971
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00209 NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00209 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00209 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00209 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00209 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00209 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00209 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270
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 chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249
JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00542 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00542 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00542 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00542 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO SMPDB SMP:00542 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00542 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00542 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00542 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00542 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00542 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00542 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00542 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00542 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
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 chr 9:1,792,790...1,824,434
Ensembl chr 9:1,793,139...1,824,434
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00347 NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:152,504,186...152,606,591
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00347 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00347 NCBI chr18:11,958,382...12,015,247
Ensembl chr18:11,958,390...12,015,247
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00347 NCBI chr 7:117,225,855...117,269,436
Ensembl chr 7:117,225,855...117,268,759
JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00347 NCBI chr 6:127,596,063...127,613,293
Ensembl chr 6:127,596,071...127,613,293
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00347 NCBI chr10:104,242,223...104,246,589
Ensembl chr10:104,242,223...104,246,589
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00347 NCBI chr14:78,868,049...78,886,402
Ensembl chr14:78,870,793...78,886,388
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00347 NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830
JBrowse link
G Gba glucosylceramidase beta ISO SMPDB SMP:00347 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00347 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664
JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00347 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00347 NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00347 NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00347 NCBI chr 2:44,439,002...44,500,430
Ensembl chr 2:44,438,994...44,501,268
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00347 NCBI chr 1:229,996,673...230,259,591
Ensembl chr 1:229,998,119...230,259,603
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00347 NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00347 NCBI chr 9:79,762,658...79,884,665
Ensembl chr 9:79,763,284...79,880,457
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00347 NCBI chr 1:96,180,872...96,188,592
Ensembl chr 1:96,180,887...96,188,391
JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00347 NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00347 NCBI chr 6:106,948,681...107,031,584
Ensembl chr 6:106,950,949...107,031,542
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00347 NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00347 NCBI chr 2:214,264,483...214,332,769
Ensembl chr 2:214,264,483...214,332,660
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 chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249
JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00235 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00235 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00235 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00235 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO SMPDB SMP:00235 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00235 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00235 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00235 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00235 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00235 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00235 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00235 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00235 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
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 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00389 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00389 NCBI chr 5:121,344,637...121,368,853
Ensembl chr 5:121,344,575...121,371,137
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00389 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00389 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00389 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00389 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00389 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00389 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00389 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00389 NCBI chr17:61,629,592...61,637,357
Ensembl chr17:61,629,594...61,637,357
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00389 NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00389 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00389 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00389 NCBI chr19:50,496,366...50,506,389
Ensembl chr19:50,496,367...50,507,971
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00389 NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00389 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00389 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00389 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00389 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00389 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00389 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270
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 chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249
JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00545 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00545 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00545 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00545 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO SMPDB SMP:00545 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00545 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00545 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00545 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00545 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00545 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00545 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00545 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00545 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
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 chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249
JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00540 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00540 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00540 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00540 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO SMPDB SMP:00540 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00540 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00540 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00540 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00540 NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00540 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00540 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00540 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00540 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
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 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 5:121,344,637...121,368,853
Ensembl chr 5:121,344,575...121,371,137
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00319 SMP:00511 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00319 SMP:00511 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr17:61,629,592...61,637,357
Ensembl chr17:61,629,594...61,637,357
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00319 SMP:00511 NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00319 SMP:00511 NCBI chr19:50,496,366...50,506,389
Ensembl chr19:50,496,367...50,507,971
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00319 SMP:00511 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6100
    disease pathway 1955
      nutritional and metabolic disease pathway 708
        metabolic disease pathway 666
          lipid metabolism disease pathway 95
            hypercholesterolemia pathway 22
            inborn error of lipid metabolism pathway + 95
            xanthomatosis pathway + 17
paths to the root