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PATHWAY ONTOLOGY - ANNOTATIONS

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

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


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carnitine palmitoyltransferase I deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-Coenzyme A acyltransferase 2 (mitochondrial 3-oxoacyl-Coenzyme A thiolase) ISO SMPDB SMP:00538 NCBI chr18:74,779,212...74,806,207
Ensembl chr18:74,779,197...74,806,208
JBrowse link
G Acadl acyl-Coenzyme A dehydrogenase, long-chain ISO SMPDB SMP:00538 NCBI chr 1:66,830,839...66,863,309
Ensembl chr 1:66,830,839...66,863,277
JBrowse link
G Acadm acyl-Coenzyme A dehydrogenase, medium chain ISO SMPDB SMP:00538 NCBI chr 3:153,922,353...153,944,643
Ensembl chr 3:153,922,357...153,944,632
JBrowse link
G Acads acyl-Coenzyme A dehydrogenase, short chain ISO SMPDB SMP:00538 NCBI chr 5:115,110,299...115,119,346
Ensembl chr 5:115,110,299...115,119,346
JBrowse link
G Acadsb acyl-Coenzyme A dehydrogenase, short/branched chain ISO SMPDB SMP:00538 NCBI chr 7:131,410,601...131,446,211
Ensembl chr 7:131,410,601...131,448,944
JBrowse link
G Acadvl acyl-Coenzyme A dehydrogenase, very long chain ISO SMPDB SMP:00538 NCBI chr11:70,010,183...70,015,428
Ensembl chr11:70,010,183...70,015,411
JBrowse link
G Acat1 acetyl-Coenzyme A acetyltransferase 1 ISO SMPDB SMP:00538 NCBI chr 9:53,580,522...53,610,350
Ensembl chr 9:53,580,522...53,610,382
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00538 NCBI chr 8:46,471,037...46,536,051
Ensembl chr 8:46,471,037...46,536,051
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1a, liver ISO SMPDB SMP:00538 NCBI chr19:3,322,326...3,385,735
Ensembl chr19:3,322,334...3,385,733
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00538 NCBI chr 4:107,903,982...107,923,589
Ensembl chr 4:107,903,981...107,923,610
JBrowse link
G Echs1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial ISO SMPDB SMP:00538 NCBI chr 7:140,105,710...140,116,421
Ensembl chr 7:140,105,710...140,116,476
JBrowse link
G Gcdh glutaryl-Coenzyme A dehydrogenase ISO SMPDB SMP:00538 NCBI chr 8:84,886,387...84,893,921
Ensembl chr 8:84,886,393...84,893,921
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00538 NCBI chr 5:30,119,423...30,154,980
Ensembl chr 5:30,118,304...30,155,162
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00538 NCBI chr 5:30,155,253...30,184,593
Ensembl chr 5:30,155,248...30,184,593
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, sub-family D (ALD), member 1 ISO SMPDB SMP:00517 NCBI chr  X:73,716,597...73,738,534
Ensembl chr  X:73,716,597...73,738,534
JBrowse link
G Abcd2 ATP-binding cassette, sub-family D (ALD), member 2 ISO SMPDB SMP:00517 NCBI chr15:91,145,871...91,192,007
Ensembl chr15:91,145,871...91,191,799
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00517 NCBI chr 8:46,471,037...46,536,051
Ensembl chr 8:46,471,037...46,536,051
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chr 4:107,903,982...107,923,589
Ensembl chr 4:107,903,981...107,923,610
JBrowse link
G Crat carnitine acetyltransferase ISO SMPDB SMP:00517 NCBI chr 2:30,400,476...30,416,017
Ensembl chr 2:30,400,471...30,415,813
JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chr 5:8,966,033...8,997,146
Ensembl chr 5:8,966,033...8,997,324
JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chr 8:3,457,105...3,467,648
Ensembl chr 8:3,457,105...3,467,680
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chr11:23,646,843...23,665,883
Ensembl chr11:23,646,479...23,665,959
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00517 NCBI chr 4:148,960,535...149,099,843
Ensembl chr 4:148,960,535...149,099,876
JBrowse link
G Slc25a20 solute carrier family 25 (mitochondrial carnitine/acylcarnitine translocase), member 20 ISO SMPDB SMP:00517 NCBI chr 9:108,662,136...108,684,642
Ensembl chr 9:108,662,088...108,684,641
JBrowse link
cerebrotendinous xanthomatosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-Coenzyme A oxidase 2, branched chain ISO SMPDB SMP:00315 NCBI chr14:8,225,511...8,259,019
Ensembl chr14:8,225,511...8,259,353
JBrowse link
G Akr1c6 aldo-keto reductase family 1, member C6 ISO SMPDB SMP:00315 NCBI chr13:4,434,311...4,457,530
Ensembl chr13:4,434,306...4,457,877
JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00315 NCBI chr 6:37,529,978...37,574,921
Ensembl chr 6:37,530,173...37,568,815
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00315 NCBI chr15:10,981,756...10,996,624
Ensembl chr15:10,981,756...10,996,626
JBrowse link
G Baat bile acid-Coenzyme A: amino acid N-acyltransferase ISO SMPDB SMP:00315 NCBI chr 4:49,489,416...49,507,915
Ensembl chr 4:49,489,422...49,506,557
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00315 NCBI chr19:34,473,783...34,475,148
Ensembl chr19:34,473,778...34,475,164
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 1:74,713,148...74,737,897
Ensembl chr 1:74,713,574...74,737,892
JBrowse link
G Cyp39a1 cytochrome P450, family 39, subfamily a, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr17:43,667,372...43,751,431
Ensembl chr17:43,667,425...43,751,431
JBrowse link
G Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr12:108,334,268...108,362,234
Ensembl chr12:108,334,381...108,362,234
JBrowse link
G Cyp7a1 cytochrome P450, family 7, subfamily a, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 4:6,265,612...6,275,632
Ensembl chr 4:6,265,612...6,275,633
JBrowse link
G Cyp7b1 cytochrome P450, family 7, subfamily b, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 3:18,071,944...18,243,890
Ensembl chr 3:18,071,950...18,243,338
JBrowse link
G Cyp8b1 cytochrome P450, family 8, subfamily b, polypeptide 1 ISO SMPDB SMP:00315 NCBI chr 9:121,914,356...121,916,305
Ensembl chr 9:121,914,356...121,916,305
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO SMPDB SMP:00315 NCBI chr18:50,128,201...50,196,270
Ensembl chr18:50,128,201...50,196,269
JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00315 NCBI chr 7:127,800,609...127,803,802
Ensembl chr 7:127,800,604...127,803,802
JBrowse link
G Lipa lysosomal acid lipase A ISO SMPDB SMP:00315 NCBI chr19:34,492,316...34,527,474
Ensembl chr19:34,492,318...34,527,474
JBrowse link
G Scp2 sterol carrier protein 2, liver ISO SMPDB SMP:00315 NCBI chr 4:108,043,830...108,144,971
Ensembl chr 4:108,043,839...108,144,998
JBrowse link
G Slc27a5 solute carrier family 27 (fatty acid transporter), member 5 ISO SMPDB SMP:00315 NCBI chr 7:12,988,346...12,998,192
Ensembl chr 7:12,988,346...12,998,192
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-Coenzyme A acetyltransferase 2 ISO SMPDB SMP:00508 NCBI chr17:12,943,042...12,960,725
Ensembl chr17:12,942,890...12,960,747
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00508 NCBI chr 5:4,080,674...4,104,697
Ensembl chr 5:4,081,145...4,104,746
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00508 NCBI chr 4:106,561,038...106,589,113
Ensembl chr 4:106,561,038...106,589,113
JBrowse link
G Ebp phenylalkylamine Ca2+ antagonist (emopamil) binding protein ISO SMPDB SMP:00508 NCBI chr  X:8,185,329...8,193,512
Ensembl chr  X:8,185,329...8,193,512
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00508 NCBI chr14:63,145,150...63,181,687
Ensembl chr14:63,145,150...63,179,578
JBrowse link
G Fdps farnesyl diphosphate synthetase ISO SMPDB SMP:00508 NCBI chr 3:89,093,588...89,101,967
Ensembl chr 3:89,093,588...89,101,959
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00508 NCBI chr13:14,049,790...14,063,566
Ensembl chr13:14,050,659...14,063,488
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase ISO SMPDB SMP:00508 NCBI chr13:96,648,962...96,670,936
Ensembl chr13:96,648,967...96,670,936
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 ISO SMPDB SMP:00508 NCBI chr13:119,690,351...119,708,260
Ensembl chr13:119,690,379...119,708,260
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00508 NCBI chr 1:169,949,535...169,969,242
Ensembl chr 1:169,949,535...169,969,241
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase ISO SMPDB SMP:00508 NCBI chr13:8,885,606...8,892,396
Ensembl chr13:8,885,501...8,892,451
JBrowse link
G Lipa lysosomal acid lipase A ISO SMPDB SMP:00508 NCBI chr19:34,492,316...34,527,474
Ensembl chr19:34,492,318...34,527,474
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00508 NCBI chr10:76,531,565...76,557,139
Ensembl chr10:76,531,588...76,557,138
JBrowse link
G Msmo1 methylsterol monoxygenase 1 ISO SMPDB SMP:00508 NCBI chr 8:64,718,123...64,733,578
Ensembl chr 8:64,718,139...64,733,792
JBrowse link
G Mvd mevalonate (diphospho) decarboxylase ISO SMPDB SMP:00508 NCBI chr 8:122,433,596...122,443,422
Ensembl chr 8:122,433,601...122,443,422
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00508 NCBI chr 5:114,444,264...114,460,591
Ensembl chr 5:114,444,269...114,460,591
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00508 NCBI chr  X:72,918,521...72,958,528
Ensembl chr  X:72,918,557...72,958,514
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00508 NCBI chr 3:89,454,541...89,469,014
Ensembl chr 3:89,454,541...89,469,013
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00508 NCBI chr 9:42,251,592...42,264,300
Ensembl chr 9:42,251,595...42,264,256
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00508 NCBI chr 1:156,428,108...156,474,328
Ensembl chr 1:156,424,525...156,474,331
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00508 NCBI chr15:59,315,092...59,331,193
Ensembl chr15:59,315,077...59,331,192
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00508 NCBI chr19:6,062,821...6,067,850
Ensembl chr19:6,062,821...6,068,373
JBrowse link
desmosterolosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-Coenzyme A acetyltransferase 2 ISO SMPDB SMP:00386 NCBI chr17:12,943,042...12,960,725
Ensembl chr17:12,942,890...12,960,747
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00386 NCBI chr 5:4,080,674...4,104,697
Ensembl chr 5:4,081,145...4,104,746
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00386 NCBI chr 4:106,561,038...106,589,113
Ensembl chr 4:106,561,038...106,589,113
JBrowse link
G Ebp phenylalkylamine Ca2+ antagonist (emopamil) binding protein ISO SMPDB SMP:00386 NCBI chr  X:8,185,329...8,193,512
Ensembl chr  X:8,185,329...8,193,512
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00386 NCBI chr14:63,145,150...63,181,687
Ensembl chr14:63,145,150...63,179,578
JBrowse link
G Fdps farnesyl diphosphate synthetase ISO SMPDB SMP:00386 NCBI chr 3:89,093,588...89,101,967
Ensembl chr 3:89,093,588...89,101,959
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00386 NCBI chr13:14,049,790...14,063,566
Ensembl chr13:14,050,659...14,063,488
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase ISO SMPDB SMP:00386 NCBI chr13:96,648,962...96,670,936
Ensembl chr13:96,648,967...96,670,936
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 ISO SMPDB SMP:00386 NCBI chr13:119,690,351...119,708,260
Ensembl chr13:119,690,379...119,708,260
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00386 NCBI chr 1:169,949,535...169,969,242
Ensembl chr 1:169,949,535...169,969,241
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase ISO SMPDB SMP:00386 NCBI chr13:8,885,606...8,892,396
Ensembl chr13:8,885,501...8,892,451
JBrowse link
G Lipa lysosomal acid lipase A ISO SMPDB SMP:00386 NCBI chr19:34,492,316...34,527,474
Ensembl chr19:34,492,318...34,527,474
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00386 NCBI chr10:76,531,565...76,557,139
Ensembl chr10:76,531,588...76,557,138
JBrowse link
G Msmo1 methylsterol monoxygenase 1 ISO SMPDB SMP:00386 NCBI chr 8:64,718,123...64,733,578
Ensembl chr 8:64,718,139...64,733,792
JBrowse link
G Mvd mevalonate (diphospho) decarboxylase ISO SMPDB SMP:00386 NCBI chr 8:122,433,596...122,443,422
Ensembl chr 8:122,433,601...122,443,422
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00386 NCBI chr 5:114,444,264...114,460,591
Ensembl chr 5:114,444,269...114,460,591
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00386 NCBI chr  X:72,918,521...72,958,528
Ensembl chr  X:72,918,557...72,958,514
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00386 NCBI chr 3:89,454,541...89,469,014
Ensembl chr 3:89,454,541...89,469,013
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00386 NCBI chr 9:42,251,592...42,264,300
Ensembl chr 9:42,251,595...42,264,256
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00386 NCBI chr 1:156,428,108...156,474,328
Ensembl chr 1:156,424,525...156,474,331
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00386 NCBI chr15:59,315,092...59,331,193
Ensembl chr15:59,315,077...59,331,192
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00386 NCBI chr19:6,062,821...6,067,850
Ensembl chr19:6,062,821...6,068,373
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 chr17:56,953,490...56,982,126
Ensembl chr17:56,953,490...56,982,126
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00525 NCBI chr 7:98,213,808...98,321,208
Ensembl chr 7:98,206,389...98,321,208
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00525 NCBI chr15:89,472,476...89,477,424
Ensembl chr15:89,472,476...89,477,425
JBrowse link
G B4galt6 UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6 ISO SMPDB SMP:00525 NCBI chr18:20,684,599...20,746,404
Ensembl chr18:20,684,599...20,746,404
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00525 NCBI chr15:86,139,101...86,186,259
Ensembl chr15:86,139,128...86,186,141
JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00525 NCBI chr12:108,686,792...108,702,306
Ensembl chr12:108,678,711...108,702,315
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00525 NCBI chr11:118,988,181...118,993,221
Ensembl chr11:118,988,188...118,993,221
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00525 NCBI chr11:3,983,636...3,999,328
Ensembl chr11:3,983,636...3,999,326
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00525 NCBI chr12:98,202,287...98,259,459
Ensembl chr12:98,202,294...98,259,459
JBrowse link
G Gba glucosidase, beta, acid ISO SMPDB SMP:00525 NCBI chr 3:89,202,905...89,208,873
Ensembl chr 3:89,202,928...89,208,966
JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00525 NCBI chr  X:134,588,169...134,601,005
Ensembl chr  X:134,588,149...134,601,125
JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00525 NCBI chr 9:114,401,078...114,474,379
Ensembl chr 9:114,401,076...114,474,898
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00525 NCBI chr 1:106,720,410...106,759,742
Ensembl chr 1:106,720,459...106,759,727
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00525 NCBI chr 7:99,811,434...99,828,457
Ensembl chr 7:99,811,439...99,828,417
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00525 NCBI chr13:112,800,777...112,867,894
Ensembl chr13:112,800,792...112,867,894
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00525 NCBI chr19:32,122,727...32,389,885
Ensembl chr19:32,122,727...32,389,714
JBrowse link
G Sgpl1 sphingosine phosphate lyase 1 ISO SMPDB SMP:00525 NCBI chr10:61,098,642...61,147,684
Ensembl chr10:61,098,642...61,147,703
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00525 NCBI chr 1:78,309,549...78,420,289
Ensembl chr 1:78,310,345...78,420,289
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00525 NCBI chr 7:45,709,463...45,718,002
Ensembl chr 7:45,709,467...45,718,002
JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00525 NCBI chr13:53,332,748...53,377,417
Ensembl chr13:53,332,748...53,377,397
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00525 NCBI chr12:87,305,058...87,388,355
Ensembl chr12:87,305,058...87,388,355
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00525 NCBI chr 4:59,189,507...59,222,833
Ensembl chr 4:59,189,257...59,222,833
JBrowse link
G Ugt8a UDP galactosyltransferase 8A ISO SMPDB SMP:00525 NCBI chr 3:125,865,272...125,938,682
Ensembl chr 3:125,865,271...125,938,619
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 (lysophosphatidic acid acyltransferase, alpha) ISO SMPDB SMP:00530 NCBI chr17:34,604,195...34,613,449
Ensembl chr17:34,604,262...34,613,449
JBrowse link
G Akr1b3 aldo-keto reductase family 1, member B3 (aldose reductase) ISO SMPDB SMP:00530 NCBI chr 6:34,303,930...34,317,489
Ensembl chr 6:34,302,434...34,317,478
JBrowse link
G Aldh3a1 aldehyde dehydrogenase family 3, subfamily A1 ISO SMPDB SMP:00530 NCBI chr11:61,208,510...61,218,418
Ensembl chr11:61,207,537...61,218,421
JBrowse link
G Dgka diacylglycerol kinase, alpha ISO SMPDB SMP:00530 NCBI chr10:128,720,131...128,745,084
Ensembl chr10:128,720,134...128,744,855
JBrowse link
G Gk glycerol kinase ISO SMPDB SMP:00530 NCBI chr  X:85,701,937...85,776,819
Ensembl chr  X:85,701,937...85,776,819
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00530 NCBI chr 9:106,152,859...106,160,158
Ensembl chr 9:106,152,857...106,158,138
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00530 NCBI chr19:55,067,635...55,127,319
Ensembl chr19:55,067,268...55,127,238
JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 (soluble) ISO SMPDB SMP:00530 NCBI chr15:99,717,587...99,725,014
Ensembl chr15:99,717,515...99,725,005
JBrowse link
G Gpd2 glycerol phosphate dehydrogenase 2, mitochondrial ISO SMPDB SMP:00530 NCBI chr 2:57,237,678...57,370,719
Ensembl chr 2:57,237,635...57,370,719
JBrowse link
G Lipc lipase, hepatic ISO SMPDB SMP:00530 NCBI chr 9:70,798,128...70,952,221
Ensembl chr 9:70,798,128...70,952,226
JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00530 NCBI chr 8:68,880,555...68,906,932
Ensembl chr 8:68,880,491...68,907,448
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00530 NCBI chr13:112,800,777...112,867,894
Ensembl chr13:112,800,792...112,867,894
JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00530 NCBI chr10:79,526,424...79,533,787
Ensembl chr10:79,526,430...79,533,796
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 chr17:56,953,490...56,982,126
Ensembl chr17:56,953,490...56,982,126
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00349 NCBI chr 7:98,213,808...98,321,208
Ensembl chr 7:98,206,389...98,321,208
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00349 NCBI chr15:89,472,476...89,477,424
Ensembl chr15:89,472,476...89,477,425
JBrowse link
G B4galt6 UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6 ISO SMPDB SMP:00349 NCBI chr18:20,684,599...20,746,404
Ensembl chr18:20,684,599...20,746,404
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00349 NCBI chr15:86,139,101...86,186,259
Ensembl chr15:86,139,128...86,186,141
JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00349 NCBI chr12:108,686,792...108,702,306
Ensembl chr12:108,678,711...108,702,315
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00349 NCBI chr11:118,988,181...118,993,221
Ensembl chr11:118,988,188...118,993,221
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00349 NCBI chr11:3,983,636...3,999,328
Ensembl chr11:3,983,636...3,999,326
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00349 NCBI chr12:98,202,287...98,259,459
Ensembl chr12:98,202,294...98,259,459
JBrowse link
G Gba glucosidase, beta, acid ISO SMPDB SMP:00349 NCBI chr 3:89,202,905...89,208,873
Ensembl chr 3:89,202,928...89,208,966
JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00349 NCBI chr  X:134,588,169...134,601,005
Ensembl chr  X:134,588,149...134,601,125
JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00349 NCBI chr 9:114,401,078...114,474,379
Ensembl chr 9:114,401,076...114,474,898
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00349 NCBI chr 1:106,720,410...106,759,742
Ensembl chr 1:106,720,459...106,759,727
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00349 NCBI chr 7:99,811,434...99,828,457
Ensembl chr 7:99,811,439...99,828,417
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00349 NCBI chr13:112,800,777...112,867,894
Ensembl chr13:112,800,792...112,867,894
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00349 NCBI chr19:32,122,727...32,389,885
Ensembl chr19:32,122,727...32,389,714
JBrowse link
G Sgpl1 sphingosine phosphate lyase 1 ISO SMPDB SMP:00349 NCBI chr10:61,098,642...61,147,684
Ensembl chr10:61,098,642...61,147,703
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00349 NCBI chr 1:78,309,549...78,420,289
Ensembl chr 1:78,310,345...78,420,289
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00349 NCBI chr 7:45,709,463...45,718,002
Ensembl chr 7:45,709,467...45,718,002
JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00349 NCBI chr13:53,332,748...53,377,417
Ensembl chr13:53,332,748...53,377,397
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00349 NCBI chr12:87,305,058...87,388,355
Ensembl chr12:87,305,058...87,388,355
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00349 NCBI chr 4:59,189,507...59,222,833
Ensembl chr 4:59,189,257...59,222,833
JBrowse link
G Ugt8a UDP galactosyltransferase 8A ISO SMPDB SMP:00349 NCBI chr 3:125,865,272...125,938,682
Ensembl chr 3:125,865,271...125,938,619
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-Coenzyme A acyltransferase 2 (mitochondrial 3-oxoacyl-Coenzyme A thiolase) ISO SMPDB SMP:00542 NCBI chr18:74,779,212...74,806,207
Ensembl chr18:74,779,197...74,806,208
JBrowse link
G Acadl acyl-Coenzyme A dehydrogenase, long-chain ISO SMPDB SMP:00542 NCBI chr 1:66,830,839...66,863,309
Ensembl chr 1:66,830,839...66,863,277
JBrowse link
G Acadm acyl-Coenzyme A dehydrogenase, medium chain ISO SMPDB SMP:00542 NCBI chr 3:153,922,353...153,944,643
Ensembl chr 3:153,922,357...153,944,632
JBrowse link
G Acads acyl-Coenzyme A dehydrogenase, short chain ISO SMPDB SMP:00542 NCBI chr 5:115,110,299...115,119,346
Ensembl chr 5:115,110,299...115,119,346
JBrowse link
G Acadsb acyl-Coenzyme A dehydrogenase, short/branched chain ISO SMPDB SMP:00542 NCBI chr 7:131,410,601...131,446,211
Ensembl chr 7:131,410,601...131,448,944
JBrowse link
G Acadvl acyl-Coenzyme A dehydrogenase, very long chain ISO SMPDB SMP:00542 NCBI chr11:70,010,183...70,015,428
Ensembl chr11:70,010,183...70,015,411
JBrowse link
G Acat1 acetyl-Coenzyme A acetyltransferase 1 ISO SMPDB SMP:00542 NCBI chr 9:53,580,522...53,610,350
Ensembl chr 9:53,580,522...53,610,382
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00542 NCBI chr 8:46,471,037...46,536,051
Ensembl chr 8:46,471,037...46,536,051
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1a, liver ISO SMPDB SMP:00542 NCBI chr19:3,322,326...3,385,735
Ensembl chr19:3,322,334...3,385,733
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00542 NCBI chr 4:107,903,982...107,923,589
Ensembl chr 4:107,903,981...107,923,610
JBrowse link
G Echs1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial ISO SMPDB SMP:00542 NCBI chr 7:140,105,710...140,116,421
Ensembl chr 7:140,105,710...140,116,476
JBrowse link
G Gcdh glutaryl-Coenzyme A dehydrogenase ISO SMPDB SMP:00542 NCBI chr 8:84,886,387...84,893,921
Ensembl chr 8:84,886,393...84,893,921
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00542 NCBI chr 5:30,119,423...30,154,980
Ensembl chr 5:30,118,304...30,155,162
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00542 NCBI chr 5:30,155,253...30,184,593
Ensembl chr 5:30,155,248...30,184,593
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 chr17:56,953,490...56,982,126
Ensembl chr17:56,953,490...56,982,126
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00347 NCBI chr 7:98,213,808...98,321,208
Ensembl chr 7:98,206,389...98,321,208
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00347 NCBI chr15:89,472,476...89,477,424
Ensembl chr15:89,472,476...89,477,425
JBrowse link
G B4galt6 UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6 ISO SMPDB SMP:00347 NCBI chr18:20,684,599...20,746,404
Ensembl chr18:20,684,599...20,746,404
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00347 NCBI chr15:86,139,101...86,186,259
Ensembl chr15:86,139,128...86,186,141
JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00347 NCBI chr12:108,686,792...108,702,306
Ensembl chr12:108,678,711...108,702,315
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00347 NCBI chr11:118,988,181...118,993,221
Ensembl chr11:118,988,188...118,993,221
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00347 NCBI chr11:3,983,636...3,999,328
Ensembl chr11:3,983,636...3,999,326
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00347 NCBI chr12:98,202,287...98,259,459
Ensembl chr12:98,202,294...98,259,459
JBrowse link
G Gba glucosidase, beta, acid ISO SMPDB SMP:00347 NCBI chr 3:89,202,905...89,208,873
Ensembl chr 3:89,202,928...89,208,966
JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00347 NCBI chr  X:134,588,169...134,601,005
Ensembl chr  X:134,588,149...134,601,125
JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00347 NCBI chr 9:114,401,078...114,474,379
Ensembl chr 9:114,401,076...114,474,898
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00347 NCBI chr 1:106,720,410...106,759,742
Ensembl chr 1:106,720,459...106,759,727
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00347 NCBI chr 7:99,811,434...99,828,457
Ensembl chr 7:99,811,439...99,828,417
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00347 NCBI chr13:112,800,777...112,867,894
Ensembl chr13:112,800,792...112,867,894
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00347 NCBI chr19:32,122,727...32,389,885
Ensembl chr19:32,122,727...32,389,714
JBrowse link
G Sgpl1 sphingosine phosphate lyase 1 ISO SMPDB SMP:00347 NCBI chr10:61,098,642...61,147,684
Ensembl chr10:61,098,642...61,147,703
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00347 NCBI chr 1:78,309,549...78,420,289
Ensembl chr 1:78,310,345...78,420,289
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00347 NCBI chr 7:45,709,463...45,718,002
Ensembl chr 7:45,709,467...45,718,002
JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00347 NCBI chr13:53,332,748...53,377,417
Ensembl chr13:53,332,748...53,377,397
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00347 NCBI chr12:87,305,058...87,388,355
Ensembl chr12:87,305,058...87,388,355
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00347 NCBI chr 4:59,189,507...59,222,833
Ensembl chr 4:59,189,257...59,222,833
JBrowse link
G Ugt8a UDP galactosyltransferase 8A ISO SMPDB SMP:00347 NCBI chr 3:125,865,272...125,938,682
Ensembl chr 3:125,865,271...125,938,619
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-Coenzyme A acyltransferase 2 (mitochondrial 3-oxoacyl-Coenzyme A thiolase) ISO SMPDB SMP:00235 NCBI chr18:74,779,212...74,806,207
Ensembl chr18:74,779,197...74,806,208
JBrowse link
G Acadl acyl-Coenzyme A dehydrogenase, long-chain ISO SMPDB SMP:00235 NCBI chr 1:66,830,839...66,863,309
Ensembl chr 1:66,830,839...66,863,277
JBrowse link
G Acadm acyl-Coenzyme A dehydrogenase, medium chain ISO SMPDB SMP:00235 NCBI chr 3:153,922,353...153,944,643
Ensembl chr 3:153,922,357...153,944,632
JBrowse link
G Acads acyl-Coenzyme A dehydrogenase, short chain ISO SMPDB SMP:00235 NCBI chr 5:115,110,299...115,119,346
Ensembl chr 5:115,110,299...115,119,346
JBrowse link
G Acadsb acyl-Coenzyme A dehydrogenase, short/branched chain ISO SMPDB SMP:00235 NCBI chr 7:131,410,601...131,446,211
Ensembl chr 7:131,410,601...131,448,944
JBrowse link
G Acadvl acyl-Coenzyme A dehydrogenase, very long chain ISO SMPDB SMP:00235 NCBI chr11:70,010,183...70,015,428
Ensembl chr11:70,010,183...70,015,411
JBrowse link
G Acat1 acetyl-Coenzyme A acetyltransferase 1 ISO SMPDB SMP:00235 NCBI chr 9:53,580,522...53,610,350
Ensembl chr 9:53,580,522...53,610,382
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00235 NCBI chr 8:46,471,037...46,536,051
Ensembl chr 8:46,471,037...46,536,051
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1a, liver ISO SMPDB SMP:00235 NCBI chr19:3,322,326...3,385,735
Ensembl chr19:3,322,334...3,385,733
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00235 NCBI chr 4:107,903,982...107,923,589
Ensembl chr 4:107,903,981...107,923,610
JBrowse link
G Echs1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial ISO SMPDB SMP:00235 NCBI chr 7:140,105,710...140,116,421
Ensembl chr 7:140,105,710...140,116,476
JBrowse link
G Gcdh glutaryl-Coenzyme A dehydrogenase ISO SMPDB SMP:00235 NCBI chr 8:84,886,387...84,893,921
Ensembl chr 8:84,886,393...84,893,921
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00235 NCBI chr 5:30,119,423...30,154,980
Ensembl chr 5:30,118,304...30,155,162
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00235 NCBI chr 5:30,155,253...30,184,593
Ensembl chr 5:30,155,248...30,184,593
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-Coenzyme A acetyltransferase 2 ISO SMPDB SMP:00389 NCBI chr17:12,943,042...12,960,725
Ensembl chr17:12,942,890...12,960,747
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00389 NCBI chr 5:4,080,674...4,104,697
Ensembl chr 5:4,081,145...4,104,746
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00389 NCBI chr 4:106,561,038...106,589,113
Ensembl chr 4:106,561,038...106,589,113
JBrowse link
G Ebp phenylalkylamine Ca2+ antagonist (emopamil) binding protein ISO SMPDB SMP:00389 NCBI chr  X:8,185,329...8,193,512
Ensembl chr  X:8,185,329...8,193,512
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00389 NCBI chr14:63,145,150...63,181,687
Ensembl chr14:63,145,150...63,179,578
JBrowse link
G Fdps farnesyl diphosphate synthetase ISO SMPDB SMP:00389 NCBI chr 3:89,093,588...89,101,967
Ensembl chr 3:89,093,588...89,101,959
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00389 NCBI chr13:14,049,790...14,063,566
Ensembl chr13:14,050,659...14,063,488
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase ISO SMPDB SMP:00389 NCBI chr13:96,648,962...96,670,936
Ensembl chr13:96,648,967...96,670,936
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 ISO SMPDB SMP:00389 NCBI chr13:119,690,351...119,708,260
Ensembl chr13:119,690,379...119,708,260
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00389 NCBI chr 1:169,949,535...169,969,242
Ensembl chr 1:169,949,535...169,969,241
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase ISO SMPDB SMP:00389 NCBI chr13:8,885,606...8,892,396
Ensembl chr13:8,885,501...8,892,451
JBrowse link
G Lipa lysosomal acid lipase A ISO SMPDB SMP:00389 NCBI chr19:34,492,316...34,527,474
Ensembl chr19:34,492,318...34,527,474
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00389 NCBI chr10:76,531,565...76,557,139
Ensembl chr10:76,531,588...76,557,138
JBrowse link
G Msmo1 methylsterol monoxygenase 1 ISO SMPDB SMP:00389 NCBI chr 8:64,718,123...64,733,578
Ensembl chr 8:64,718,139...64,733,792
JBrowse link
G Mvd mevalonate (diphospho) decarboxylase ISO SMPDB SMP:00389 NCBI chr 8:122,433,596...122,443,422
Ensembl chr 8:122,433,601...122,443,422
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00389 NCBI chr 5:114,444,264...114,460,591
Ensembl chr 5:114,444,269...114,460,591
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00389 NCBI chr  X:72,918,521...72,958,528
Ensembl chr  X:72,918,557...72,958,514
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00389 NCBI chr 3:89,454,541...89,469,014
Ensembl chr 3:89,454,541...89,469,013
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00389 NCBI chr 9:42,251,592...42,264,300
Ensembl chr 9:42,251,595...42,264,256
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00389 NCBI chr 1:156,428,108...156,474,328
Ensembl chr 1:156,424,525...156,474,331
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00389 NCBI chr15:59,315,092...59,331,193
Ensembl chr15:59,315,077...59,331,192
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00389 NCBI chr19:6,062,821...6,067,850
Ensembl chr19:6,062,821...6,068,373
JBrowse link
trifunctional protein deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-Coenzyme A acyltransferase 2 (mitochondrial 3-oxoacyl-Coenzyme A thiolase) ISO SMPDB SMP:00545 NCBI chr18:74,779,212...74,806,207
Ensembl chr18:74,779,197...74,806,208
JBrowse link
G Acadl acyl-Coenzyme A dehydrogenase, long-chain ISO SMPDB SMP:00545 NCBI chr 1:66,830,839...66,863,309
Ensembl chr 1:66,830,839...66,863,277
JBrowse link
G Acadm acyl-Coenzyme A dehydrogenase, medium chain ISO SMPDB SMP:00545 NCBI chr 3:153,922,353...153,944,643
Ensembl chr 3:153,922,357...153,944,632
JBrowse link
G Acads acyl-Coenzyme A dehydrogenase, short chain ISO SMPDB SMP:00545 NCBI chr 5:115,110,299...115,119,346
Ensembl chr 5:115,110,299...115,119,346
JBrowse link
G Acadsb acyl-Coenzyme A dehydrogenase, short/branched chain ISO SMPDB SMP:00545 NCBI chr 7:131,410,601...131,446,211
Ensembl chr 7:131,410,601...131,448,944
JBrowse link
G Acadvl acyl-Coenzyme A dehydrogenase, very long chain ISO SMPDB SMP:00545 NCBI chr11:70,010,183...70,015,428
Ensembl chr11:70,010,183...70,015,411
JBrowse link
G Acat1 acetyl-Coenzyme A acetyltransferase 1 ISO SMPDB SMP:00545 NCBI chr 9:53,580,522...53,610,350
Ensembl chr 9:53,580,522...53,610,382
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00545 NCBI chr 8:46,471,037...46,536,051
Ensembl chr 8:46,471,037...46,536,051
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1a, liver ISO SMPDB SMP:00545 NCBI chr19:3,322,326...3,385,735
Ensembl chr19:3,322,334...3,385,733
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00545 NCBI chr 4:107,903,982...107,923,589
Ensembl chr 4:107,903,981...107,923,610
JBrowse link
G Echs1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial ISO SMPDB SMP:00545 NCBI chr 7:140,105,710...140,116,421
Ensembl chr 7:140,105,710...140,116,476
JBrowse link
G Gcdh glutaryl-Coenzyme A dehydrogenase ISO SMPDB SMP:00545 NCBI chr 8:84,886,387...84,893,921
Ensembl chr 8:84,886,393...84,893,921
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00545 NCBI chr 5:30,119,423...30,154,980
Ensembl chr 5:30,118,304...30,155,162
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00545 NCBI chr 5:30,155,253...30,184,593
Ensembl chr 5:30,155,248...30,184,593
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-Coenzyme A acyltransferase 2 (mitochondrial 3-oxoacyl-Coenzyme A thiolase) ISO SMPDB SMP:00540 NCBI chr18:74,779,212...74,806,207
Ensembl chr18:74,779,197...74,806,208
JBrowse link
G Acadl acyl-Coenzyme A dehydrogenase, long-chain ISO SMPDB SMP:00540 NCBI chr 1:66,830,839...66,863,309
Ensembl chr 1:66,830,839...66,863,277
JBrowse link
G Acadm acyl-Coenzyme A dehydrogenase, medium chain ISO SMPDB SMP:00540 NCBI chr 3:153,922,353...153,944,643
Ensembl chr 3:153,922,357...153,944,632
JBrowse link
G Acads acyl-Coenzyme A dehydrogenase, short chain ISO SMPDB SMP:00540 NCBI chr 5:115,110,299...115,119,346
Ensembl chr 5:115,110,299...115,119,346
JBrowse link
G Acadsb acyl-Coenzyme A dehydrogenase, short/branched chain ISO SMPDB SMP:00540 NCBI chr 7:131,410,601...131,446,211
Ensembl chr 7:131,410,601...131,448,944
JBrowse link
G Acadvl acyl-Coenzyme A dehydrogenase, very long chain ISO SMPDB SMP:00540 NCBI chr11:70,010,183...70,015,428
Ensembl chr11:70,010,183...70,015,411
JBrowse link
G Acat1 acetyl-Coenzyme A acetyltransferase 1 ISO SMPDB SMP:00540 NCBI chr 9:53,580,522...53,610,350
Ensembl chr 9:53,580,522...53,610,382
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00540 NCBI chr 8:46,471,037...46,536,051
Ensembl chr 8:46,471,037...46,536,051
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1a, liver ISO SMPDB SMP:00540 NCBI chr19:3,322,326...3,385,735
Ensembl chr19:3,322,334...3,385,733
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00540 NCBI chr 4:107,903,982...107,923,589
Ensembl chr 4:107,903,981...107,923,610
JBrowse link
G Echs1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial ISO SMPDB SMP:00540 NCBI chr 7:140,105,710...140,116,421
Ensembl chr 7:140,105,710...140,116,476
JBrowse link
G Gcdh glutaryl-Coenzyme A dehydrogenase ISO SMPDB SMP:00540 NCBI chr 8:84,886,387...84,893,921
Ensembl chr 8:84,886,393...84,893,921
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00540 NCBI chr 5:30,119,423...30,154,980
Ensembl chr 5:30,118,304...30,155,162
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00540 NCBI chr 5:30,155,253...30,184,593
Ensembl chr 5:30,155,248...30,184,593
JBrowse link
Wolman disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-Coenzyme A acetyltransferase 2 ISO SMPDB SMP:00319 SMP:00511 NCBI chr17:12,943,042...12,960,725
Ensembl chr17:12,942,890...12,960,747
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 5:4,080,674...4,104,697
Ensembl chr 5:4,081,145...4,104,746
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 4:106,561,038...106,589,113
Ensembl chr 4:106,561,038...106,589,113
JBrowse link
G Ebp phenylalkylamine Ca2+ antagonist (emopamil) binding protein ISO SMPDB SMP:00319 SMP:00511 NCBI chr  X:8,185,329...8,193,512
Ensembl chr  X:8,185,329...8,193,512
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr14:63,145,150...63,181,687
Ensembl chr14:63,145,150...63,179,578
JBrowse link
G Fdps farnesyl diphosphate synthetase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 3:89,093,588...89,101,967
Ensembl chr 3:89,093,588...89,101,959
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr13:14,049,790...14,063,566
Ensembl chr13:14,050,659...14,063,488
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chr13:96,648,962...96,670,936
Ensembl chr13:96,648,967...96,670,936
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr13:119,690,351...119,708,260
Ensembl chr13:119,690,379...119,708,260
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 1:169,949,535...169,969,242
Ensembl chr 1:169,949,535...169,969,241
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase ISO SMPDB SMP:00319 SMP:00511 NCBI chr13:8,885,606...8,892,396
Ensembl chr13:8,885,501...8,892,451
JBrowse link
G Lipa lysosomal acid lipase A ISO SMPDB SMP:00319 SMP:00511 NCBI chr19:34,492,316...34,527,474
Ensembl chr19:34,492,318...34,527,474
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chr10:76,531,565...76,557,139
Ensembl chr10:76,531,588...76,557,138
JBrowse link
G Msmo1 methylsterol monoxygenase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 8:64,718,123...64,733,578
Ensembl chr 8:64,718,139...64,733,792
JBrowse link
G Mvd mevalonate (diphospho) decarboxylase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 8:122,433,596...122,443,422
Ensembl chr 8:122,433,601...122,443,422
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 5:114,444,264...114,460,591
Ensembl chr 5:114,444,269...114,460,591
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00319 SMP:00511 NCBI chr  X:72,918,521...72,958,528
Ensembl chr  X:72,918,557...72,958,514
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 3:89,454,541...89,469,014
Ensembl chr 3:89,454,541...89,469,013
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 9:42,251,592...42,264,300
Ensembl chr 9:42,251,595...42,264,256
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 1:156,428,108...156,474,328
Ensembl chr 1:156,424,525...156,474,331
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00319 SMP:00511 NCBI chr15:59,315,092...59,331,193
Ensembl chr15:59,315,077...59,331,192
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00319 SMP:00511 NCBI chr19:6,062,821...6,067,850
Ensembl chr19:6,062,821...6,068,373
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6066
    disease pathway 2094
      nutritional and metabolic disease pathway 700
        metabolic disease pathway 660
          lipid metabolism disease pathway 95
            inborn error of lipid metabolism pathway 95
              Smith-Lemli-Opitz Syndrome pathway 22
              carnitine palmitoyltransferase I deficiency pathway 14
              carnitine-acylcarnitine translocase deficiency 10
              cerebrotendinous xanthomatosis pathway 17
              cholesterol ester storage disease pathway + 22
              desmosterolosis pathway 22
              familial lipoprotein lipase deficiency pathway 13
              medium chain acyl-CoA dehydrogenase deficiency pathway 14
              short-chain acyl-CoA dehydrogenase deficiency pathway 14
              sphingolipidosis pathway + 23
              trifunctional protein deficiency pathway 14
              very long-chain acyl-CoA dehydrogenase deficiency pathway 14
paths to the root