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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 chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00538 NCBI chr2B:97,445,421...97,483,514
Ensembl chr2B:215,847,775...215,885,524
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00538 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00538 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00538 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00538 NCBI chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00538 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00538 NCBI chr 4:176,920,811...176,991,495
Ensembl chr 4:189,145,403...189,198,646
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00538 NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00538 NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00538 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00538 NCBI chr19:12,452,779...12,461,757
Ensembl chr19:13,195,241...13,204,223
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00538 NCBI chr2A:26,185,938...26,240,229
Ensembl chr2A:26,279,995...26,334,068
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00538 NCBI chr2A:26,240,365...26,285,982
Ensembl chr2A:26,334,043...26,379,059
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:143,275,165...143,295,283
Ensembl chr  X:153,162,412...153,182,424
JBrowse link
G ABCD2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00517 NCBI chr12:49,082,122...49,158,524
Ensembl chr12:49,941,914...50,011,140
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00517 NCBI chr 4:176,920,811...176,991,495
Ensembl chr 4:189,145,403...189,198,646
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994
JBrowse link
G CRAT carnitine O-acetyltransferase ISO SMPDB SMP:00517 NCBI chr 9:100,220,019...100,236,061
Ensembl chr 9:128,880,057...128,896,484
JBrowse link
G CROT carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chr 7:79,339,498...79,393,676
Ensembl chr 7:92,989,868...93,043,832
JBrowse link
G PEX11G peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chr19:6,763,676...6,782,075
Ensembl chr19:7,626,021...7,639,174
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chr2A:61,108,970...61,143,615
Ensembl chr2A:62,250,887...62,285,151
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00517 NCBI chr 1:9,234,928...9,391,086
Ensembl chr 1:10,459,884...10,614,187
JBrowse link
G SLC25A20 solute carrier family 25 member 20 ISO SMPDB SMP:00517 NCBI chr 3:48,782,960...48,824,616
Ensembl chr 3:49,863,259...49,901,839
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 chr 3:58,442,532...58,474,601
Ensembl chr 3:59,852,771...59,884,548
JBrowse link
G AKR1C4 aldo-keto reductase family 1 member C4 ISO SMPDB SMP:00315 NCBI chr10:5,247,368...5,271,554
Ensembl chr10:5,234,188...5,258,201
JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00315 NCBI chr 7:130,023,017...130,076,397
Ensembl chr 7:142,525,467...142,571,331
JBrowse link
G AMACR alpha-methylacyl-CoA racemase ISO SMPDB SMP:00315 NCBI chr 5:76,336,631...76,358,724
Ensembl chr 5:81,687,891...81,742,003
JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase ISO SMPDB SMP:00315 NCBI chr 9:72,568,002...72,593,179
Ensembl chr 9:100,563,040...100,586,189
JBrowse link
G CH25H cholesterol 25-hydroxylase ISO SMPDB SMP:00315 NCBI chr10:85,930,638...85,932,065
Ensembl chr10:89,471,441...89,472,259
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr2B:106,042,235...106,076,840
Ensembl chr2B:224,637,238...224,671,474
JBrowse link
G CYP39A1 cytochrome P450 family 39 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr 6:46,132,584...46,235,578
Ensembl chr 6:47,404,969...47,507,600
JBrowse link
G CYP46A1 cytochrome P450 family 46 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr14:80,309,698...80,352,181
Ensembl chr14:99,628,511...99,671,218
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00315 NCBI chr 8:54,942,509...54,952,500
Ensembl chr 8:56,593,799...56,604,037
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00315 NCBI chr 8:61,135,307...61,335,838
Ensembl chr 8:62,806,637...63,006,386
JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00315 NCBI chr 3:42,775,679...42,779,440
Ensembl chr 3:43,824,423...43,842,716
JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00315 NCBI chr 5:114,842,892...114,928,559
Ensembl chr 5:120,628,605...120,713,860
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00315 NCBI chr16:23,979,487...23,984,225
Ensembl chr16:31,352,322...31,356,803
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00315 NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
JBrowse link
G SCP2 sterol carrier protein 2 ISO SMPDB SMP:00315 NCBI chr 1:52,195,491...52,324,227
Ensembl chr 1:53,797,254...53,924,939
JBrowse link
G SLC27A5 solute carrier family 27 member 5 ISO SMPDB SMP:00315 NCBI chr19:55,507,455...55,520,448
Ensembl chr19:64,329,567...64,342,630
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 6:157,644,894...157,661,965
Ensembl chr 6:162,656,497...162,673,606
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00508 NCBI chr 7:84,110,130...84,132,870
Ensembl chr 7:97,708,806...97,729,824
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00508 NCBI chr 1:54,126,170...54,163,713
Ensembl chr 1:55,714,693...55,754,698
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO SMPDB SMP:00508 NCBI chr  X:40,820,042...40,826,957 JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00508 NCBI chr 8:7,363,250...7,399,863 JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00508 NCBI chr 1:130,653,316...130,665,196
Ensembl chr 1:134,258,968...134,270,237
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00508 NCBI chr 1:210,874,385...210,888,647
Ensembl chr 1:215,888,966...215,902,845
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00508 NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00508 NCBI chr 5:67,067,001...67,091,786
Ensembl chr 5:72,116,228...72,141,050
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00508 NCBI chr 1:138,204,544...138,226,689 JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00508 NCBI chr10:1,078,107...1,087,054
Ensembl chr10:1,124,920...1,133,234
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00508 NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00508 NCBI chr21:32,535,564...32,571,379
Ensembl chr21:45,787,252...45,822,181
JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00508 NCBI chr 4:157,523,099...157,538,508
Ensembl chr 4:169,606,809...169,622,212
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00508 NCBI chr16:69,365,070...69,376,149
Ensembl chr16:89,025,572...89,036,964
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00508 NCBI chr12:107,150,477...107,173,978
Ensembl chr12:110,544,991...110,568,524
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00508 NCBI chr  X:142,405,340...142,443,723
Ensembl chr  X:152,324,553...152,362,931
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00508 NCBI chr 1:130,273,246...130,286,614
Ensembl chr 1:133,882,840...133,894,818
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00508 NCBI chr11:116,139,979...116,160,745
Ensembl chr11:120,063,743...120,078,386
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00508 NCBI chr 1:154,776,305...154,840,594
Ensembl chr 1:158,464,886...158,524,909
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00508 NCBI chr 8:121,684,269...121,708,131
Ensembl chr 8:124,435,668...124,459,441
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00508 NCBI chr11:60,473,934...60,478,579
Ensembl chr11:63,812,769...63,816,812
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 6:157,644,894...157,661,965
Ensembl chr 6:162,656,497...162,673,606
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00386 NCBI chr 7:84,110,130...84,132,870
Ensembl chr 7:97,708,806...97,729,824
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00386 NCBI chr 1:54,126,170...54,163,713
Ensembl chr 1:55,714,693...55,754,698
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO SMPDB SMP:00386 NCBI chr  X:40,820,042...40,826,957 JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00386 NCBI chr 8:7,363,250...7,399,863 JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00386 NCBI chr 1:130,653,316...130,665,196
Ensembl chr 1:134,258,968...134,270,237
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00386 NCBI chr 1:210,874,385...210,888,647
Ensembl chr 1:215,888,966...215,902,845
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00386 NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00386 NCBI chr 5:67,067,001...67,091,786
Ensembl chr 5:72,116,228...72,141,050
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00386 NCBI chr 1:138,204,544...138,226,689 JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00386 NCBI chr10:1,078,107...1,087,054
Ensembl chr10:1,124,920...1,133,234
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00386 NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00386 NCBI chr21:32,535,564...32,571,379
Ensembl chr21:45,787,252...45,822,181
JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00386 NCBI chr 4:157,523,099...157,538,508
Ensembl chr 4:169,606,809...169,622,212
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00386 NCBI chr16:69,365,070...69,376,149
Ensembl chr16:89,025,572...89,036,964
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00386 NCBI chr12:107,150,477...107,173,978
Ensembl chr12:110,544,991...110,568,524
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00386 NCBI chr  X:142,405,340...142,443,723
Ensembl chr  X:152,324,553...152,362,931
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00386 NCBI chr 1:130,273,246...130,286,614
Ensembl chr 1:133,882,840...133,894,818
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00386 NCBI chr11:116,139,979...116,160,745
Ensembl chr11:120,063,743...120,078,386
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00386 NCBI chr 1:154,776,305...154,840,594
Ensembl chr 1:158,464,886...158,524,909
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00386 NCBI chr 8:121,684,269...121,708,131
Ensembl chr 8:124,435,668...124,459,441
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00386 NCBI chr11:60,473,934...60,478,579
Ensembl chr11:63,812,769...63,816,812
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 chr19:5,327,251...5,393,587
Ensembl chr19:6,252,300...6,281,016
JBrowse link
G ACER3 alkaline ceramidase 3 ISO SMPDB SMP:00525 NCBI chr11:71,911,204...72,077,528
Ensembl chr11:75,557,846...75,717,586
JBrowse link
G ARSA arylsulfatase A ISO SMPDB SMP:00525 NCBI chr22:30,868,812...30,871,970
Ensembl chr22:49,978,955...49,982,099
JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00525 NCBI chr18:24,840,106...24,906,309
Ensembl chr18:28,438,302...28,500,946
JBrowse link
G CERK ceramide kinase ISO SMPDB SMP:00525 NCBI chr22:26,849,865...26,905,545
Ensembl chr22:45,749,887...45,786,570
JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00525 NCBI chr14:80,767,334...80,813,506
Ensembl chr14:100,086,782...100,100,741
JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00525 NCBI chr17:73,811,249...73,822,719
Ensembl chr17:79,347,505...79,359,349
JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00525 NCBI chr22:11,582,915...11,602,936
Ensembl chr22:29,382,779...29,393,042
JBrowse link
G GALC galactosylceramidase ISO SMPDB SMP:00525 NCBI chr14:68,545,070...68,605,730
Ensembl chr14:87,905,098...87,965,770
JBrowse link
G GLA galactosidase alpha ISO SMPDB SMP:00525 NCBI chr  X:90,600,412...90,610,594
Ensembl chr  X:100,732,311...100,742,280
JBrowse link
G GLB1 galactosidase beta 1 ISO SMPDB SMP:00525 NCBI chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804
JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00525 NCBI chr18:56,686,914...56,727,681
Ensembl chr18:60,001,637...60,036,292
JBrowse link
G NEU3 neuraminidase 3 ISO SMPDB SMP:00525 NCBI chr11:70,047,878...70,070,303
Ensembl chr11:73,353,332...73,373,270
JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00525 NCBI chr 5:58,495,348...58,605,309
Ensembl chr 5:60,160,274...60,227,806
JBrowse link
G SGMS1 sphingomyelin synthase 1 ISO SMPDB SMP:00525 NCBI chr10:46,960,159...47,273,353
Ensembl chr10:49,076,984...49,116,154
JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00525 NCBI chr10:67,286,349...67,351,574
Ensembl chr10:69,812,092...69,876,438
JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00525 NCBI chr2B:109,668,923...109,803,950
Ensembl chr2B:228,300,673...228,381,565
JBrowse link
G SPHK2 sphingosine kinase 2 ISO SMPDB SMP:00525 NCBI chr19:45,620,980...45,631,786
Ensembl chr19:54,213,166...54,224,767
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00525 NCBI chr 9:63,087,798...63,174,977 JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00525 NCBI chr14:58,066,123...58,170,472
Ensembl chr14:77,266,545...77,370,663
JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00525 NCBI chr 9:83,024,602...83,065,017
Ensembl chr 9:111,184,478...111,222,613
JBrowse link
G UGT8 UDP glycosyltransferase 8 ISO SMPDB SMP:00525 NCBI chr 4:107,113,476...107,199,272
Ensembl chr 4:117,676,810...117,762,729
JBrowse link
familial lipoprotein lipase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO SMPDB SMP:00530 NCBI chr 6:31,815,586...31,823,526
Ensembl chr 6:32,695,475...32,704,432
JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00530 NCBI chr 7:126,400,861...126,417,756
Ensembl chr 7:138,912,953...138,924,095
JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00530 NCBI chr17:31,384,740...31,395,719
Ensembl chr17:36,531,720...36,542,504
JBrowse link
G DGKA diacylglycerol kinase alpha ISO SMPDB SMP:00530 NCBI chr12:32,958,287...32,981,164
Ensembl chr12:33,207,947...33,701,912
JBrowse link
G GK glycerol kinase ISO SMPDB SMP:00530 NCBI chr  X:23,250,290...23,327,373
Ensembl chr  X:30,806,950...30,877,131
JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00530 NCBI chr 3:52,230,128...52,237,561
Ensembl chr 3:53,458,563...53,466,702
JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00530 NCBI chr10:108,747,370...108,781,270
Ensembl chr10:112,186,744...112,246,549
JBrowse link
G GPD1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00530 NCBI chr12:38,644,466...38,651,924
Ensembl chr12:39,541,550...39,549,040
JBrowse link
G GPD2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00530 NCBI chr2B:43,694,744...43,845,764
Ensembl chr2B:160,938,514...161,117,320
JBrowse link
G LIPC lipase C, hepatic type ISO SMPDB SMP:00530 NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005
JBrowse link
G LPL lipoprotein lipase ISO SMPDB SMP:00530 NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966
JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00530 NCBI chr 5:58,495,348...58,605,309
Ensembl chr 5:60,160,274...60,227,806
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 chr19:5,327,251...5,393,587
Ensembl chr19:6,252,300...6,281,016
JBrowse link
G ACER3 alkaline ceramidase 3 ISO SMPDB SMP:00349 NCBI chr11:71,911,204...72,077,528
Ensembl chr11:75,557,846...75,717,586
JBrowse link
G ARSA arylsulfatase A ISO SMPDB SMP:00349 NCBI chr22:30,868,812...30,871,970
Ensembl chr22:49,978,955...49,982,099
JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00349 NCBI chr18:24,840,106...24,906,309
Ensembl chr18:28,438,302...28,500,946
JBrowse link
G CERK ceramide kinase ISO SMPDB SMP:00349 NCBI chr22:26,849,865...26,905,545
Ensembl chr22:45,749,887...45,786,570
JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00349 NCBI chr14:80,767,334...80,813,506
Ensembl chr14:100,086,782...100,100,741
JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00349 NCBI chr17:73,811,249...73,822,719
Ensembl chr17:79,347,505...79,359,349
JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00349 NCBI chr22:11,582,915...11,602,936
Ensembl chr22:29,382,779...29,393,042
JBrowse link
G GALC galactosylceramidase ISO SMPDB SMP:00349 NCBI chr14:68,545,070...68,605,730
Ensembl chr14:87,905,098...87,965,770
JBrowse link
G GLA galactosidase alpha ISO SMPDB SMP:00349 NCBI chr  X:90,600,412...90,610,594
Ensembl chr  X:100,732,311...100,742,280
JBrowse link
G GLB1 galactosidase beta 1 ISO SMPDB SMP:00349 NCBI chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804
JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00349 NCBI chr18:56,686,914...56,727,681
Ensembl chr18:60,001,637...60,036,292
JBrowse link
G NEU3 neuraminidase 3 ISO SMPDB SMP:00349 NCBI chr11:70,047,878...70,070,303
Ensembl chr11:73,353,332...73,373,270
JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00349 NCBI chr 5:58,495,348...58,605,309
Ensembl chr 5:60,160,274...60,227,806
JBrowse link
G SGMS1 sphingomyelin synthase 1 ISO SMPDB SMP:00349 NCBI chr10:46,960,159...47,273,353
Ensembl chr10:49,076,984...49,116,154
JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00349 NCBI chr10:67,286,349...67,351,574
Ensembl chr10:69,812,092...69,876,438
JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00349 NCBI chr2B:109,668,923...109,803,950
Ensembl chr2B:228,300,673...228,381,565
JBrowse link
G SPHK2 sphingosine kinase 2 ISO SMPDB SMP:00349 NCBI chr19:45,620,980...45,631,786
Ensembl chr19:54,213,166...54,224,767
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00349 NCBI chr 9:63,087,798...63,174,977 JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00349 NCBI chr14:58,066,123...58,170,472
Ensembl chr14:77,266,545...77,370,663
JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00349 NCBI chr 9:83,024,602...83,065,017
Ensembl chr 9:111,184,478...111,222,613
JBrowse link
G UGT8 UDP glycosyltransferase 8 ISO SMPDB SMP:00349 NCBI chr 4:107,113,476...107,199,272
Ensembl chr 4:117,676,810...117,762,729
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 6:157,644,894...157,661,965
Ensembl chr 6:162,656,497...162,673,606
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00209 NCBI chr 7:84,110,130...84,132,870
Ensembl chr 7:97,708,806...97,729,824
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00209 NCBI chr 1:54,126,170...54,163,713
Ensembl chr 1:55,714,693...55,754,698
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO SMPDB SMP:00209 NCBI chr  X:40,820,042...40,826,957 JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00209 NCBI chr 8:7,363,250...7,399,863 JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00209 NCBI chr 1:130,653,316...130,665,196
Ensembl chr 1:134,258,968...134,270,237
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00209 NCBI chr 1:210,874,385...210,888,647
Ensembl chr 1:215,888,966...215,902,845
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00209 NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00209 NCBI chr 5:67,067,001...67,091,786
Ensembl chr 5:72,116,228...72,141,050
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00209 NCBI chr 1:138,204,544...138,226,689 JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00209 NCBI chr10:1,078,107...1,087,054
Ensembl chr10:1,124,920...1,133,234
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00209 NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00209 NCBI chr21:32,535,564...32,571,379
Ensembl chr21:45,787,252...45,822,181
JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00209 NCBI chr 4:157,523,099...157,538,508
Ensembl chr 4:169,606,809...169,622,212
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00209 NCBI chr16:69,365,070...69,376,149
Ensembl chr16:89,025,572...89,036,964
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00209 NCBI chr12:107,150,477...107,173,978
Ensembl chr12:110,544,991...110,568,524
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00209 NCBI chr  X:142,405,340...142,443,723
Ensembl chr  X:152,324,553...152,362,931
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00209 NCBI chr 1:130,273,246...130,286,614
Ensembl chr 1:133,882,840...133,894,818
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00209 NCBI chr11:116,139,979...116,160,745
Ensembl chr11:120,063,743...120,078,386
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00209 NCBI chr 1:154,776,305...154,840,594
Ensembl chr 1:158,464,886...158,524,909
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00209 NCBI chr 8:121,684,269...121,708,131
Ensembl chr 8:124,435,668...124,459,441
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00209 NCBI chr11:60,473,934...60,478,579
Ensembl chr11:63,812,769...63,816,812
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 chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00542 NCBI chr2B:97,445,421...97,483,514
Ensembl chr2B:215,847,775...215,885,524
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00542 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00542 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00542 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00542 NCBI chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00542 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00542 NCBI chr 4:176,920,811...176,991,495
Ensembl chr 4:189,145,403...189,198,646
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00542 NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00542 NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00542 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00542 NCBI chr19:12,452,779...12,461,757
Ensembl chr19:13,195,241...13,204,223
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00542 NCBI chr2A:26,185,938...26,240,229
Ensembl chr2A:26,279,995...26,334,068
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00542 NCBI chr2A:26,240,365...26,285,982
Ensembl chr2A:26,334,043...26,379,059
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 chr19:5,327,251...5,393,587
Ensembl chr19:6,252,300...6,281,016
JBrowse link
G ACER3 alkaline ceramidase 3 ISO SMPDB SMP:00347 NCBI chr11:71,911,204...72,077,528
Ensembl chr11:75,557,846...75,717,586
JBrowse link
G ARSA arylsulfatase A ISO SMPDB SMP:00347 NCBI chr22:30,868,812...30,871,970
Ensembl chr22:49,978,955...49,982,099
JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00347 NCBI chr18:24,840,106...24,906,309
Ensembl chr18:28,438,302...28,500,946
JBrowse link
G CERK ceramide kinase ISO SMPDB SMP:00347 NCBI chr22:26,849,865...26,905,545
Ensembl chr22:45,749,887...45,786,570
JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00347 NCBI chr14:80,767,334...80,813,506
Ensembl chr14:100,086,782...100,100,741
JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00347 NCBI chr17:73,811,249...73,822,719
Ensembl chr17:79,347,505...79,359,349
JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00347 NCBI chr22:11,582,915...11,602,936
Ensembl chr22:29,382,779...29,393,042
JBrowse link
G GALC galactosylceramidase ISO SMPDB SMP:00347 NCBI chr14:68,545,070...68,605,730
Ensembl chr14:87,905,098...87,965,770
JBrowse link
G GLA galactosidase alpha ISO SMPDB SMP:00347 NCBI chr  X:90,600,412...90,610,594
Ensembl chr  X:100,732,311...100,742,280
JBrowse link
G GLB1 galactosidase beta 1 ISO SMPDB SMP:00347 NCBI chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804
JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00347 NCBI chr18:56,686,914...56,727,681
Ensembl chr18:60,001,637...60,036,292
JBrowse link
G NEU3 neuraminidase 3 ISO SMPDB SMP:00347 NCBI chr11:70,047,878...70,070,303
Ensembl chr11:73,353,332...73,373,270
JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00347 NCBI chr 5:58,495,348...58,605,309
Ensembl chr 5:60,160,274...60,227,806
JBrowse link
G SGMS1 sphingomyelin synthase 1 ISO SMPDB SMP:00347 NCBI chr10:46,960,159...47,273,353
Ensembl chr10:49,076,984...49,116,154
JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00347 NCBI chr10:67,286,349...67,351,574
Ensembl chr10:69,812,092...69,876,438
JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00347 NCBI chr2B:109,668,923...109,803,950
Ensembl chr2B:228,300,673...228,381,565
JBrowse link
G SPHK2 sphingosine kinase 2 ISO SMPDB SMP:00347 NCBI chr19:45,620,980...45,631,786
Ensembl chr19:54,213,166...54,224,767
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00347 NCBI chr 9:63,087,798...63,174,977 JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00347 NCBI chr14:58,066,123...58,170,472
Ensembl chr14:77,266,545...77,370,663
JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00347 NCBI chr 9:83,024,602...83,065,017
Ensembl chr 9:111,184,478...111,222,613
JBrowse link
G UGT8 UDP glycosyltransferase 8 ISO SMPDB SMP:00347 NCBI chr 4:107,113,476...107,199,272
Ensembl chr 4:117,676,810...117,762,729
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 chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00235 NCBI chr2B:97,445,421...97,483,514
Ensembl chr2B:215,847,775...215,885,524
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00235 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00235 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00235 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00235 NCBI chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00235 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00235 NCBI chr 4:176,920,811...176,991,495
Ensembl chr 4:189,145,403...189,198,646
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00235 NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00235 NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00235 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00235 NCBI chr19:12,452,779...12,461,757
Ensembl chr19:13,195,241...13,204,223
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00235 NCBI chr2A:26,185,938...26,240,229
Ensembl chr2A:26,279,995...26,334,068
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00235 NCBI chr2A:26,240,365...26,285,982
Ensembl chr2A:26,334,043...26,379,059
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 6:157,644,894...157,661,965
Ensembl chr 6:162,656,497...162,673,606
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00389 NCBI chr 7:84,110,130...84,132,870
Ensembl chr 7:97,708,806...97,729,824
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00389 NCBI chr 1:54,126,170...54,163,713
Ensembl chr 1:55,714,693...55,754,698
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO SMPDB SMP:00389 NCBI chr  X:40,820,042...40,826,957 JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00389 NCBI chr 8:7,363,250...7,399,863 JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00389 NCBI chr 1:130,653,316...130,665,196
Ensembl chr 1:134,258,968...134,270,237
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00389 NCBI chr 1:210,874,385...210,888,647
Ensembl chr 1:215,888,966...215,902,845
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00389 NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00389 NCBI chr 5:67,067,001...67,091,786
Ensembl chr 5:72,116,228...72,141,050
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00389 NCBI chr 1:138,204,544...138,226,689 JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00389 NCBI chr10:1,078,107...1,087,054
Ensembl chr10:1,124,920...1,133,234
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00389 NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00389 NCBI chr21:32,535,564...32,571,379
Ensembl chr21:45,787,252...45,822,181
JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00389 NCBI chr 4:157,523,099...157,538,508
Ensembl chr 4:169,606,809...169,622,212
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00389 NCBI chr16:69,365,070...69,376,149
Ensembl chr16:89,025,572...89,036,964
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00389 NCBI chr12:107,150,477...107,173,978
Ensembl chr12:110,544,991...110,568,524
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00389 NCBI chr  X:142,405,340...142,443,723
Ensembl chr  X:152,324,553...152,362,931
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00389 NCBI chr 1:130,273,246...130,286,614
Ensembl chr 1:133,882,840...133,894,818
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00389 NCBI chr11:116,139,979...116,160,745
Ensembl chr11:120,063,743...120,078,386
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00389 NCBI chr 1:154,776,305...154,840,594
Ensembl chr 1:158,464,886...158,524,909
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00389 NCBI chr 8:121,684,269...121,708,131
Ensembl chr 8:124,435,668...124,459,441
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00389 NCBI chr11:60,473,934...60,478,579
Ensembl chr11:63,812,769...63,816,812
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 chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00545 NCBI chr2B:97,445,421...97,483,514
Ensembl chr2B:215,847,775...215,885,524
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00545 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00545 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00545 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00545 NCBI chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00545 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00545 NCBI chr 4:176,920,811...176,991,495
Ensembl chr 4:189,145,403...189,198,646
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00545 NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00545 NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00545 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00545 NCBI chr19:12,452,779...12,461,757
Ensembl chr19:13,195,241...13,204,223
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00545 NCBI chr2A:26,185,938...26,240,229
Ensembl chr2A:26,279,995...26,334,068
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00545 NCBI chr2A:26,240,365...26,285,982
Ensembl chr2A:26,334,043...26,379,059
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 chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00540 NCBI chr2B:97,445,421...97,483,514
Ensembl chr2B:215,847,775...215,885,524
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00540 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00540 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00540 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00540 NCBI chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00540 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00540 NCBI chr 4:176,920,811...176,991,495
Ensembl chr 4:189,145,403...189,198,646
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00540 NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00540 NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00540 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00540 NCBI chr19:12,452,779...12,461,757
Ensembl chr19:13,195,241...13,204,223
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00540 NCBI chr2A:26,185,938...26,240,229
Ensembl chr2A:26,279,995...26,334,068
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00540 NCBI chr2A:26,240,365...26,285,982
Ensembl chr2A:26,334,043...26,379,059
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 6:157,644,894...157,661,965
Ensembl chr 6:162,656,497...162,673,606
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 7:84,110,130...84,132,870
Ensembl chr 7:97,708,806...97,729,824
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 1:54,126,170...54,163,713
Ensembl chr 1:55,714,693...55,754,698
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO SMPDB SMP:00319 SMP:00511 NCBI chr  X:40,820,042...40,826,957 JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 8:7,363,250...7,399,863 JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 1:130,653,316...130,665,196
Ensembl chr 1:134,258,968...134,270,237
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 1:210,874,385...210,888,647
Ensembl chr 1:215,888,966...215,902,845
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 5:67,067,001...67,091,786
Ensembl chr 5:72,116,228...72,141,050
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 1:138,204,544...138,226,689 JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr10:1,078,107...1,087,054
Ensembl chr10:1,124,920...1,133,234
JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00319 SMP:00511 NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chr21:32,535,564...32,571,379
Ensembl chr21:45,787,252...45,822,181
JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 4:157,523,099...157,538,508
Ensembl chr 4:169,606,809...169,622,212
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00319 SMP:00511 NCBI chr16:69,365,070...69,376,149
Ensembl chr16:89,025,572...89,036,964
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chr12:107,150,477...107,173,978
Ensembl chr12:110,544,991...110,568,524
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00319 SMP:00511 NCBI chr  X:142,405,340...142,443,723
Ensembl chr  X:152,324,553...152,362,931
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 1:130,273,246...130,286,614
Ensembl chr 1:133,882,840...133,894,818
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00319 SMP:00511 NCBI chr11:116,139,979...116,160,745
Ensembl chr11:120,063,743...120,078,386
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 1:154,776,305...154,840,594
Ensembl chr 1:158,464,886...158,524,909
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 8:121,684,269...121,708,131
Ensembl chr 8:124,435,668...124,459,441
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00319 SMP:00511 NCBI chr11:60,473,934...60,478,579
Ensembl chr11:63,812,769...63,816,812
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4036
    disease pathway 700
      nutritional and metabolic disease pathway 571
        metabolic disease pathway 533
          lipid metabolism disease pathway 93
            hypercholesterolemia pathway 22
            inborn error of lipid metabolism pathway + 93
            xanthomatosis pathway + 17
paths to the root