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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 EXP SMPDB SMP:00538 NCBI chr18:49,782,164...49,813,533
Ensembl chr18:49,782,164...49,813,953
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain EXP SMPDB SMP:00538 NCBI chr 2:210,187,923...210,225,447
Ensembl chr 2:210,187,126...210,225,447
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP SMPDB SMP:00538 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00538 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain EXP SMPDB SMP:00538 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain EXP SMPDB SMP:00538 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00538 NCBI chr11:108,116,705...108,148,822
Ensembl chr11:108,116,695...108,147,603
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 EXP SMPDB SMP:00538 NCBI chr 4:184,755,595...184,826,593
Ensembl chr 4:184,755,595...184,826,818
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A EXP SMPDB SMP:00538 NCBI chr11:68,754,620...68,844,410
Ensembl chr11:68,754,620...68,844,410
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 EXP SMPDB SMP:00538 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 EXP SMPDB SMP:00538 NCBI chr10:133,362,480...133,373,396
Ensembl chr10:133,362,485...133,373,354
JBrowse link
G GCDH glutaryl-CoA dehydrogenase EXP SMPDB SMP:00538 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha EXP SMPDB SMP:00538 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta EXP SMPDB SMP:00538 NCBI chr 2:26,244,917...26,290,465
Ensembl chr 2:26,243,170...26,290,465
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 EXP SMPDB SMP:00517 NCBI chr  X:153,724,851...153,744,755
Ensembl chr  X:153,724,856...153,744,755
JBrowse link
G ABCD2 ATP binding cassette subfamily D member 2 EXP SMPDB SMP:00517 NCBI chr12:39,530,965...39,651,333
Ensembl chr12:39,550,033...39,619,803
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 EXP SMPDB SMP:00517 NCBI chr 4:184,755,595...184,826,593
Ensembl chr 4:184,755,595...184,826,818
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 EXP SMPDB SMP:00517 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G CRAT carnitine O-acetyltransferase EXP SMPDB SMP:00517 NCBI chr 9:129,094,794...129,110,793
Ensembl chr 9:129,094,142...129,111,189
JBrowse link
G CROT carnitine O-octanoyltransferase EXP SMPDB SMP:00517 NCBI chr 7:87,345,646...87,399,794
Ensembl chr 7:87,345,664...87,399,794
JBrowse link
G PEX11G peroxisomal biogenesis factor 11 gamma EXP SMPDB SMP:00517 NCBI chr19:7,476,875...7,494,977
Ensembl chr19:7,476,875...7,497,449
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 EXP SMPDB SMP:00517 NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 EXP SMPDB SMP:00517 NCBI chr 1:10,474,946...10,630,758
Ensembl chr 1:10,472,288...10,630,758
JBrowse link
G SLC25A20 solute carrier family 25 member 20 EXP SMPDB SMP:00517 NCBI chr 3:48,856,926...48,898,882
Ensembl chr 3:48,856,926...48,898,904
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 EXP SMPDB SMP:00315 NCBI chr 3:58,505,136...58,537,196
Ensembl chr 3:58,505,136...58,537,283
JBrowse link
G AKR1C4 aldo-keto reductase family 1 member C4 EXP SMPDB SMP:00315 NCBI chr10:5,196,837...5,218,949
Ensembl chr10:5,195,462...5,218,949
JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 EXP SMPDB SMP:00315 NCBI chr 7:138,076,459...138,118,305
Ensembl chr 7:138,002,324...138,118,305
JBrowse link
G AMACR alpha-methylacyl-CoA racemase EXP SMPDB SMP:00315 NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104
JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase EXP SMPDB SMP:00315 NCBI chr 9:101,360,417...101,385,006
Ensembl chr 9:101,354,182...101,385,400
JBrowse link
G CH25H cholesterol 25-hydroxylase EXP SMPDB SMP:00315 NCBI chr10:89,205,629...89,207,317
Ensembl chr10:89,205,629...89,207,317
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 EXP SMPDB SMP:00315 NCBI chr 2:218,781,733...218,815,293
Ensembl chr 2:218,781,749...218,815,293
JBrowse link
G CYP39A1 cytochrome P450 family 39 subfamily A member 1 EXP SMPDB SMP:00315 NCBI chr 6:46,549,580...46,652,849
Ensembl chr 6:46,549,580...46,652,830
JBrowse link
G CYP46A1 cytochrome P450 family 46 subfamily A member 1 EXP SMPDB SMP:00315 NCBI chr14:99,684,262...99,727,321
Ensembl chr14:99,684,298...99,727,301
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 EXP SMPDB SMP:00315 NCBI chr 8:58,490,178...58,500,163
Ensembl chr 8:58,490,178...58,500,163
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 EXP SMPDB SMP:00315 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 EXP SMPDB SMP:00315 NCBI chr 3:42,872,192...42,875,879
Ensembl chr 3:42,856,005...42,875,898
JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 EXP SMPDB SMP:00315 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 EXP SMPDB SMP:00315 NCBI chr16:30,985,189...30,989,152
Ensembl chr16:30,985,207...30,989,147
JBrowse link
G LIPA lipase A, lysosomal acid type EXP SMPDB SMP:00315 NCBI chr10:89,213,571...89,251,926
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G SCP2 sterol carrier protein 2 EXP SMPDB SMP:00315 NCBI chr 1:52,927,276...53,051,698
Ensembl chr 1:52,927,276...53,051,698
JBrowse link
G SLC27A5 solute carrier family 27 member 5 EXP SMPDB SMP:00315 NCBI chr19:58,498,333...58,512,028
Ensembl chr19:58,479,512...58,512,413
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 EXP SMPDB SMP:00508 NCBI chr 6:159,762,045...159,779,112
Ensembl chr 6:159,762,045...159,779,112
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 EXP SMPDB SMP:00508 NCBI chr 7:92,112,153...92,134,803
Ensembl chr 7:92,112,153...92,134,803
JBrowse link
G DHCR24 24-dehydrocholesterol reductase EXP SMPDB SMP:00508 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
JBrowse link
G EBP EBP cholestenol delta-isomerase EXP SMPDB SMP:00508 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 EXP SMPDB SMP:00508 NCBI chr 8:11,795,582...11,839,309
Ensembl chr 8:11,795,573...11,839,304
JBrowse link
G FDPS farnesyl diphosphate synthase EXP SMPDB SMP:00508 NCBI chr 1:155,308,801...155,320,665
Ensembl chr 1:155,308,748...155,320,666
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 EXP SMPDB SMP:00508 NCBI chr 1:235,327,216...235,344,532
Ensembl chr 1:235,327,350...235,344,532
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase EXP SMPDB SMP:00508 NCBI chr 5:75,336,334...75,362,116
Ensembl chr 5:75,336,329...75,364,001
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 EXP SMPDB SMP:00508 NCBI chr 5:43,287,470...43,313,477
Ensembl chr 5:43,287,470...43,313,512
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 EXP SMPDB SMP:00508 NCBI chr 1:162,790,702...162,812,823
Ensembl chr 1:162,790,702...162,812,823
JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 EXP SMPDB SMP:00508 NCBI chr10:1,039,152...1,056,704
Ensembl chr10:1,039,152...1,049,119
JBrowse link
G LIPA lipase A, lysosomal acid type EXP SMPDB SMP:00508 NCBI chr10:89,213,571...89,251,926
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G LSS lanosterol synthase EXP SMPDB SMP:00508 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
JBrowse link
G MSMO1 methylsterol monooxygenase 1 EXP SMPDB SMP:00508 NCBI chr 4:165,327,669...165,343,164
Ensembl chr 4:165,327,667...165,343,164
JBrowse link
G MVD mevalonate diphosphate decarboxylase EXP SMPDB SMP:00508 NCBI chr16:88,651,935...88,663,153
Ensembl chr16:88,651,935...88,663,161
JBrowse link
G MVK mevalonate kinase EXP SMPDB SMP:00508 NCBI chr12:109,573,461...109,598,125
Ensembl chr12:109,573,255...109,598,125
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like EXP SMPDB SMP:00508 NCBI chr  X:152,831,001...152,869,729
Ensembl chr  X:152,830,967...152,869,729
JBrowse link
G PMVK phosphomevalonate kinase EXP SMPDB SMP:00508 NCBI chr 1:154,924,740...154,942,658
Ensembl chr 1:154,924,740...154,936,719
JBrowse link
G SC5D sterol-C5-desaturase EXP SMPDB SMP:00508 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
JBrowse link
G SOAT1 sterol O-acyltransferase 1 EXP SMPDB SMP:00508 NCBI chr 1:179,293,719...179,358,680
Ensembl chr 1:179,293,714...179,358,680
JBrowse link
G SQLE squalene epoxidase EXP SMPDB SMP:00508 NCBI chr 8:124,998,505...125,022,283
Ensembl chr 8:124,998,497...125,022,283
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 EXP SMPDB SMP:00508 NCBI chr11:65,111,872...65,116,230
Ensembl chr11:65,111,845...65,116,384
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 EXP SMPDB SMP:00386 NCBI chr 6:159,762,045...159,779,112
Ensembl chr 6:159,762,045...159,779,112
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 EXP SMPDB SMP:00386 NCBI chr 7:92,112,153...92,134,803
Ensembl chr 7:92,112,153...92,134,803
JBrowse link
G DHCR24 24-dehydrocholesterol reductase EXP SMPDB SMP:00386 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
JBrowse link
G EBP EBP cholestenol delta-isomerase EXP SMPDB SMP:00386 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 EXP SMPDB SMP:00386 NCBI chr 8:11,795,582...11,839,309
Ensembl chr 8:11,795,573...11,839,304
JBrowse link
G FDPS farnesyl diphosphate synthase EXP SMPDB SMP:00386 NCBI chr 1:155,308,801...155,320,665
Ensembl chr 1:155,308,748...155,320,666
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 EXP SMPDB SMP:00386 NCBI chr 1:235,327,216...235,344,532
Ensembl chr 1:235,327,350...235,344,532
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase EXP SMPDB SMP:00386 NCBI chr 5:75,336,334...75,362,116
Ensembl chr 5:75,336,329...75,364,001
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 EXP SMPDB SMP:00386 NCBI chr 5:43,287,470...43,313,477
Ensembl chr 5:43,287,470...43,313,512
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 EXP SMPDB SMP:00386 NCBI chr 1:162,790,702...162,812,823
Ensembl chr 1:162,790,702...162,812,823
JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 EXP SMPDB SMP:00386 NCBI chr10:1,039,152...1,056,704
Ensembl chr10:1,039,152...1,049,119
JBrowse link
G LIPA lipase A, lysosomal acid type EXP SMPDB SMP:00386 NCBI chr10:89,213,571...89,251,926
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G LSS lanosterol synthase EXP SMPDB SMP:00386 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
JBrowse link
G MSMO1 methylsterol monooxygenase 1 EXP SMPDB SMP:00386 NCBI chr 4:165,327,669...165,343,164
Ensembl chr 4:165,327,667...165,343,164
JBrowse link
G MVD mevalonate diphosphate decarboxylase EXP SMPDB SMP:00386 NCBI chr16:88,651,935...88,663,153
Ensembl chr16:88,651,935...88,663,161
JBrowse link
G MVK mevalonate kinase EXP SMPDB SMP:00386 NCBI chr12:109,573,461...109,598,125
Ensembl chr12:109,573,255...109,598,125
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like EXP SMPDB SMP:00386 NCBI chr  X:152,831,001...152,869,729
Ensembl chr  X:152,830,967...152,869,729
JBrowse link
G PMVK phosphomevalonate kinase EXP SMPDB SMP:00386 NCBI chr 1:154,924,740...154,942,658
Ensembl chr 1:154,924,740...154,936,719
JBrowse link
G SC5D sterol-C5-desaturase EXP SMPDB SMP:00386 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
JBrowse link
G SOAT1 sterol O-acyltransferase 1 EXP SMPDB SMP:00386 NCBI chr 1:179,293,719...179,358,680
Ensembl chr 1:179,293,714...179,358,680
JBrowse link
G SQLE squalene epoxidase EXP SMPDB SMP:00386 NCBI chr 8:124,998,505...125,022,283
Ensembl chr 8:124,998,497...125,022,283
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 EXP SMPDB SMP:00386 NCBI chr11:65,111,872...65,116,230
Ensembl chr11:65,111,845...65,116,384
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 EXP SMPDB SMP:00525 NCBI chr19:6,306,142...6,360,368
Ensembl chr19:6,306,142...6,333,612
JBrowse link
G ACER3 alkaline ceramidase 3 EXP SMPDB SMP:00525 NCBI chr11:76,860,888...77,026,797
Ensembl chr11:76,860,859...77,026,797
JBrowse link
G ARSA arylsulfatase A EXP SMPDB SMP:00525 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173
JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 EXP SMPDB SMP:00525 NCBI chr18:31,622,246...31,724,670
Ensembl chr18:31,622,246...31,685,836
JBrowse link
G CERK ceramide kinase EXP SMPDB SMP:00525 NCBI chr22:46,684,410...46,738,252
Ensembl chr22:46,684,410...46,738,252
JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 EXP SMPDB SMP:00525 NCBI chr14:100,143,957...100,166,886
Ensembl chr14:100,143,957...100,159,645
JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 EXP SMPDB SMP:00525 NCBI chr17:79,730,919...79,742,926
Ensembl chr17:79,730,943...79,742,219
JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 EXP SMPDB SMP:00525 NCBI chr22:30,554,635...30,574,665
Ensembl chr22:30,554,635...30,574,665
JBrowse link
G GALC galactosylceramidase EXP SMPDB SMP:00525 NCBI chr14:87,933,014...87,993,665
Ensembl chr14:87,837,820...87,993,665
JBrowse link
G GBA glucosylceramidase beta EXP SMPDB SMP:00525 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GLA galactosidase alpha EXP SMPDB SMP:00525 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012
JBrowse link
G GLB1 galactosidase beta 1 EXP SMPDB SMP:00525 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G KDSR 3-ketodihydrosphingosine reductase EXP SMPDB SMP:00525 NCBI chr18:63,327,726...63,367,234
Ensembl chr18:63,327,726...63,367,228
JBrowse link
G NEU3 neuraminidase 3 EXP SMPDB SMP:00525 NCBI chr11:74,988,644...75,010,907
Ensembl chr11:74,988,279...75,018,893
JBrowse link
G PLPP1 phospholipid phosphatase 1 EXP SMPDB SMP:00525 NCBI chr 5:55,424,850...55,535,075
Ensembl chr 5:55,424,854...55,534,969
JBrowse link
G SGMS1 sphingomyelin synthase 1 EXP SMPDB SMP:00525 NCBI chr10:50,305,600...50,623,956
Ensembl chr10:50,305,586...50,625,163
JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 EXP SMPDB SMP:00525 NCBI chr10:70,815,920...70,881,184
Ensembl chr10:70,815,948...70,881,184
JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 EXP SMPDB SMP:00525 NCBI chr 2:222,423,988...222,562,621
Ensembl chr 2:222,424,543...222,562,621
JBrowse link
G SPHK2 sphingosine kinase 2 EXP SMPDB SMP:00525 NCBI chr19:48,619,409...48,630,407
Ensembl chr19:48,619,291...48,630,717
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 EXP SMPDB SMP:00525 NCBI chr 9:92,031,141...92,115,413
Ensembl chr 9:92,000,087...92,115,413
JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 EXP SMPDB SMP:00525 NCBI chr14:77,505,997...77,616,663
Ensembl chr14:77,505,997...77,616,637
JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase EXP SMPDB SMP:00525 NCBI chr 9:111,896,766...111,935,369
Ensembl chr 9:111,896,814...111,935,369
JBrowse link
G UGT8 UDP glycosyltransferase 8 EXP SMPDB SMP:00525 NCBI chr 4:114,598,402...114,687,914
Ensembl chr 4:114,598,770...114,678,225
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 EXP SMPDB SMP:00530 NCBI chr 6:32,168,212...32,178,108
Ensembl chr 6:32,168,212...32,178,096
JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B EXP SMPDB SMP:00530 NCBI chr 7:134,442,350...134,459,239
Ensembl chr 7:134,442,356...134,459,284
JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 EXP SMPDB SMP:00530 NCBI chr17:19,737,984...19,748,390
Ensembl chr17:19,737,984...19,748,943
JBrowse link
G DGKA diacylglycerol kinase alpha EXP SMPDB SMP:00530 NCBI chr12:55,931,091...55,954,023
Ensembl chr12:55,927,319...55,954,027
JBrowse link
G GK glycerol kinase EXP SMPDB SMP:00530 NCBI chr  X:30,653,348...30,731,462
Ensembl chr  X:30,653,359...30,731,462
JBrowse link
G GLYCTK glycerate kinase EXP SMPDB SMP:00530 NCBI chr 3:52,287,558...52,295,257
Ensembl chr 3:52,287,089...52,295,257
JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial EXP SMPDB SMP:00530 NCBI chr10:112,149,865...112,216,306
Ensembl chr10:112,149,865...112,215,377
JBrowse link
G GPD1 glycerol-3-phosphate dehydrogenase 1 EXP SMPDB SMP:00530 NCBI chr12:50,104,008...50,111,313
Ensembl chr12:50,103,982...50,111,313
JBrowse link
G GPD2 glycerol-3-phosphate dehydrogenase 2 EXP SMPDB SMP:00530 NCBI chr 2:156,435,290...156,586,403
Ensembl chr 2:156,435,290...156,613,735
JBrowse link
G LIPC lipase C, hepatic type EXP SMPDB SMP:00530 NCBI chr15:58,410,457...58,569,844
Ensembl chr15:58,410,569...58,569,844
JBrowse link
G LPL lipoprotein lipase EXP SMPDB SMP:00530 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
JBrowse link
G PLPP1 phospholipid phosphatase 1 EXP SMPDB SMP:00530 NCBI chr 5:55,424,850...55,535,075
Ensembl chr 5:55,424,854...55,534,969
JBrowse link
G PLPP2 phospholipid phosphatase 2 EXP SMPDB SMP:00530 NCBI chr19:281,043...291,413
Ensembl chr19:281,040...291,403
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 EXP SMPDB SMP:00349 NCBI chr19:6,306,142...6,360,368
Ensembl chr19:6,306,142...6,333,612
JBrowse link
G ACER3 alkaline ceramidase 3 EXP SMPDB SMP:00349 NCBI chr11:76,860,888...77,026,797
Ensembl chr11:76,860,859...77,026,797
JBrowse link
G ARSA arylsulfatase A EXP SMPDB SMP:00349 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173
JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 EXP SMPDB SMP:00349 NCBI chr18:31,622,246...31,724,670
Ensembl chr18:31,622,246...31,685,836
JBrowse link
G CERK ceramide kinase EXP SMPDB SMP:00349 NCBI chr22:46,684,410...46,738,252
Ensembl chr22:46,684,410...46,738,252
JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 EXP SMPDB SMP:00349 NCBI chr14:100,143,957...100,166,886
Ensembl chr14:100,143,957...100,159,645
JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 EXP SMPDB SMP:00349 NCBI chr17:79,730,919...79,742,926
Ensembl chr17:79,730,943...79,742,219
JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 EXP SMPDB SMP:00349 NCBI chr22:30,554,635...30,574,665
Ensembl chr22:30,554,635...30,574,665
JBrowse link
G GALC galactosylceramidase EXP SMPDB SMP:00349 NCBI chr14:87,933,014...87,993,665
Ensembl chr14:87,837,820...87,993,665
JBrowse link
G GBA glucosylceramidase beta EXP SMPDB SMP:00349 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GLA galactosidase alpha EXP SMPDB SMP:00349 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012
JBrowse link
G GLB1 galactosidase beta 1 EXP SMPDB SMP:00349 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G KDSR 3-ketodihydrosphingosine reductase EXP SMPDB SMP:00349 NCBI chr18:63,327,726...63,367,234
Ensembl chr18:63,327,726...63,367,228
JBrowse link
G NEU3 neuraminidase 3 EXP SMPDB SMP:00349 NCBI chr11:74,988,644...75,010,907
Ensembl chr11:74,988,279...75,018,893
JBrowse link
G PLPP1 phospholipid phosphatase 1 EXP SMPDB SMP:00349 NCBI chr 5:55,424,850...55,535,075
Ensembl chr 5:55,424,854...55,534,969
JBrowse link
G SGMS1 sphingomyelin synthase 1 EXP SMPDB SMP:00349 NCBI chr10:50,305,600...50,623,956
Ensembl chr10:50,305,586...50,625,163
JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 EXP SMPDB SMP:00349 NCBI chr10:70,815,920...70,881,184
Ensembl chr10:70,815,948...70,881,184
JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 EXP SMPDB SMP:00349 NCBI chr 2:222,423,988...222,562,621
Ensembl chr 2:222,424,543...222,562,621
JBrowse link
G SPHK2 sphingosine kinase 2 EXP SMPDB SMP:00349 NCBI chr19:48,619,409...48,630,407
Ensembl chr19:48,619,291...48,630,717
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 EXP SMPDB SMP:00349 NCBI chr 9:92,031,141...92,115,413
Ensembl chr 9:92,000,087...92,115,413
JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 EXP SMPDB SMP:00349 NCBI chr14:77,505,997...77,616,663
Ensembl chr14:77,505,997...77,616,637
JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase EXP SMPDB SMP:00349 NCBI chr 9:111,896,766...111,935,369
Ensembl chr 9:111,896,814...111,935,369
JBrowse link
G UGT8 UDP glycosyltransferase 8 EXP SMPDB SMP:00349 NCBI chr 4:114,598,402...114,687,914
Ensembl chr 4:114,598,770...114,678,225
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 EXP SMPDB SMP:00209 NCBI chr 6:159,762,045...159,779,112
Ensembl chr 6:159,762,045...159,779,112
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 EXP SMPDB SMP:00209 NCBI chr 7:92,112,153...92,134,803
Ensembl chr 7:92,112,153...92,134,803
JBrowse link
G DHCR24 24-dehydrocholesterol reductase EXP SMPDB SMP:00209 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
JBrowse link
G EBP EBP cholestenol delta-isomerase EXP SMPDB SMP:00209 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 EXP SMPDB SMP:00209 NCBI chr 8:11,795,582...11,839,309
Ensembl chr 8:11,795,573...11,839,304
JBrowse link
G FDPS farnesyl diphosphate synthase EXP SMPDB SMP:00209 NCBI chr 1:155,308,801...155,320,665
Ensembl chr 1:155,308,748...155,320,666
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 EXP SMPDB SMP:00209 NCBI chr 1:235,327,216...235,344,532
Ensembl chr 1:235,327,350...235,344,532
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase EXP SMPDB SMP:00209 NCBI chr 5:75,336,334...75,362,116
Ensembl chr 5:75,336,329...75,364,001
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 EXP SMPDB SMP:00209 NCBI chr 5:43,287,470...43,313,477
Ensembl chr 5:43,287,470...43,313,512
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 EXP SMPDB SMP:00209 NCBI chr 1:162,790,702...162,812,823
Ensembl chr 1:162,790,702...162,812,823
JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 EXP SMPDB SMP:00209 NCBI chr10:1,039,152...1,056,704
Ensembl chr10:1,039,152...1,049,119
JBrowse link
G LIPA lipase A, lysosomal acid type EXP SMPDB SMP:00209 NCBI chr10:89,213,571...89,251,926
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G LSS lanosterol synthase EXP SMPDB SMP:00209 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
JBrowse link
G MSMO1 methylsterol monooxygenase 1 EXP SMPDB SMP:00209 NCBI chr 4:165,327,669...165,343,164
Ensembl chr 4:165,327,667...165,343,164
JBrowse link
G MVD mevalonate diphosphate decarboxylase EXP SMPDB SMP:00209 NCBI chr16:88,651,935...88,663,153
Ensembl chr16:88,651,935...88,663,161
JBrowse link
G MVK mevalonate kinase EXP SMPDB SMP:00209 NCBI chr12:109,573,461...109,598,125
Ensembl chr12:109,573,255...109,598,125
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like EXP SMPDB SMP:00209 NCBI chr  X:152,831,001...152,869,729
Ensembl chr  X:152,830,967...152,869,729
JBrowse link
G PMVK phosphomevalonate kinase EXP SMPDB SMP:00209 NCBI chr 1:154,924,740...154,942,658
Ensembl chr 1:154,924,740...154,936,719
JBrowse link
G SC5D sterol-C5-desaturase EXP SMPDB SMP:00209 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
JBrowse link
G SOAT1 sterol O-acyltransferase 1 EXP SMPDB SMP:00209 NCBI chr 1:179,293,719...179,358,680
Ensembl chr 1:179,293,714...179,358,680
JBrowse link
G SQLE squalene epoxidase EXP SMPDB SMP:00209 NCBI chr 8:124,998,505...125,022,283
Ensembl chr 8:124,998,497...125,022,283
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 EXP SMPDB SMP:00209 NCBI chr11:65,111,872...65,116,230
Ensembl chr11:65,111,845...65,116,384
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 EXP SMPDB SMP:00542 NCBI chr18:49,782,164...49,813,533
Ensembl chr18:49,782,164...49,813,953
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain EXP SMPDB SMP:00542 NCBI chr 2:210,187,923...210,225,447
Ensembl chr 2:210,187,126...210,225,447
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP SMPDB SMP:00542 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00542 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain EXP SMPDB SMP:00542 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain EXP SMPDB SMP:00542 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00542 NCBI chr11:108,116,705...108,148,822
Ensembl chr11:108,116,695...108,147,603
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 EXP SMPDB SMP:00542 NCBI chr 4:184,755,595...184,826,593
Ensembl chr 4:184,755,595...184,826,818
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A EXP SMPDB SMP:00542 NCBI chr11:68,754,620...68,844,410
Ensembl chr11:68,754,620...68,844,410
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 EXP SMPDB SMP:00542 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 EXP SMPDB SMP:00542 NCBI chr10:133,362,480...133,373,396
Ensembl chr10:133,362,485...133,373,354
JBrowse link
G GCDH glutaryl-CoA dehydrogenase EXP SMPDB SMP:00542 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha EXP SMPDB SMP:00542 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta EXP SMPDB SMP:00542 NCBI chr 2:26,244,917...26,290,465
Ensembl chr 2:26,243,170...26,290,465
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 EXP SMPDB SMP:00347 NCBI chr19:6,306,142...6,360,368
Ensembl chr19:6,306,142...6,333,612
JBrowse link
G ACER3 alkaline ceramidase 3 EXP SMPDB SMP:00347 NCBI chr11:76,860,888...77,026,797
Ensembl chr11:76,860,859...77,026,797
JBrowse link
G ARSA arylsulfatase A EXP SMPDB SMP:00347 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173
JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 EXP SMPDB SMP:00347 NCBI chr18:31,622,246...31,724,670
Ensembl chr18:31,622,246...31,685,836
JBrowse link
G CERK ceramide kinase EXP SMPDB SMP:00347 NCBI chr22:46,684,410...46,738,252
Ensembl chr22:46,684,410...46,738,252
JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 EXP SMPDB SMP:00347 NCBI chr14:100,143,957...100,166,886
Ensembl chr14:100,143,957...100,159,645
JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 EXP SMPDB SMP:00347 NCBI chr17:79,730,919...79,742,926
Ensembl chr17:79,730,943...79,742,219
JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 EXP SMPDB SMP:00347 NCBI chr22:30,554,635...30,574,665
Ensembl chr22:30,554,635...30,574,665
JBrowse link
G GALC galactosylceramidase EXP SMPDB SMP:00347 NCBI chr14:87,933,014...87,993,665
Ensembl chr14:87,837,820...87,993,665
JBrowse link
G GBA glucosylceramidase beta EXP SMPDB SMP:00347 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GLA galactosidase alpha EXP SMPDB SMP:00347 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012
JBrowse link
G GLB1 galactosidase beta 1 EXP SMPDB SMP:00347 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G KDSR 3-ketodihydrosphingosine reductase EXP SMPDB SMP:00347 NCBI chr18:63,327,726...63,367,234
Ensembl chr18:63,327,726...63,367,228
JBrowse link
G NEU3 neuraminidase 3 EXP SMPDB SMP:00347 NCBI chr11:74,988,644...75,010,907
Ensembl chr11:74,988,279...75,018,893
JBrowse link
G PLPP1 phospholipid phosphatase 1 EXP SMPDB SMP:00347 NCBI chr 5:55,424,850...55,535,075
Ensembl chr 5:55,424,854...55,534,969
JBrowse link
G SGMS1 sphingomyelin synthase 1 EXP SMPDB SMP:00347 NCBI chr10:50,305,600...50,623,956
Ensembl chr10:50,305,586...50,625,163
JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 EXP SMPDB SMP:00347 NCBI chr10:70,815,920...70,881,184
Ensembl chr10:70,815,948...70,881,184
JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 EXP SMPDB SMP:00347 NCBI chr 2:222,423,988...222,562,621
Ensembl chr 2:222,424,543...222,562,621
JBrowse link
G SPHK2 sphingosine kinase 2 EXP SMPDB SMP:00347 NCBI chr19:48,619,409...48,630,407
Ensembl chr19:48,619,291...48,630,717
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 EXP SMPDB SMP:00347 NCBI chr 9:92,031,141...92,115,413
Ensembl chr 9:92,000,087...92,115,413
JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 EXP SMPDB SMP:00347 NCBI chr14:77,505,997...77,616,663
Ensembl chr14:77,505,997...77,616,637
JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase EXP SMPDB SMP:00347 NCBI chr 9:111,896,766...111,935,369
Ensembl chr 9:111,896,814...111,935,369
JBrowse link
G UGT8 UDP glycosyltransferase 8 EXP SMPDB SMP:00347 NCBI chr 4:114,598,402...114,687,914
Ensembl chr 4:114,598,770...114,678,225
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 EXP SMPDB SMP:00235 NCBI chr18:49,782,164...49,813,533
Ensembl chr18:49,782,164...49,813,953
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain EXP SMPDB SMP:00235 NCBI chr 2:210,187,923...210,225,447
Ensembl chr 2:210,187,126...210,225,447
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP SMPDB SMP:00235 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00235 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain EXP SMPDB SMP:00235 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain EXP SMPDB SMP:00235 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00235 NCBI chr11:108,116,705...108,148,822
Ensembl chr11:108,116,695...108,147,603
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 EXP SMPDB SMP:00235 NCBI chr 4:184,755,595...184,826,593
Ensembl chr 4:184,755,595...184,826,818
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A EXP SMPDB SMP:00235 NCBI chr11:68,754,620...68,844,410
Ensembl chr11:68,754,620...68,844,410
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 EXP SMPDB SMP:00235 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 EXP SMPDB SMP:00235 NCBI chr10:133,362,480...133,373,396
Ensembl chr10:133,362,485...133,373,354
JBrowse link
G GCDH glutaryl-CoA dehydrogenase EXP SMPDB SMP:00235 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha EXP SMPDB SMP:00235 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta EXP SMPDB SMP:00235 NCBI chr 2:26,244,917...26,290,465
Ensembl chr 2:26,243,170...26,290,465
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 EXP SMPDB SMP:00389 NCBI chr 6:159,762,045...159,779,112
Ensembl chr 6:159,762,045...159,779,112
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 EXP SMPDB SMP:00389 NCBI chr 7:92,112,153...92,134,803
Ensembl chr 7:92,112,153...92,134,803
JBrowse link
G DHCR24 24-dehydrocholesterol reductase EXP SMPDB SMP:00389 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
JBrowse link
G EBP EBP cholestenol delta-isomerase EXP SMPDB SMP:00389 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 EXP SMPDB SMP:00389 NCBI chr 8:11,795,582...11,839,309
Ensembl chr 8:11,795,573...11,839,304
JBrowse link
G FDPS farnesyl diphosphate synthase EXP SMPDB SMP:00389 NCBI chr 1:155,308,801...155,320,665
Ensembl chr 1:155,308,748...155,320,666
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 EXP SMPDB SMP:00389 NCBI chr 1:235,327,216...235,344,532
Ensembl chr 1:235,327,350...235,344,532
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase EXP SMPDB SMP:00389 NCBI chr 5:75,336,334...75,362,116
Ensembl chr 5:75,336,329...75,364,001
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 EXP SMPDB SMP:00389 NCBI chr 5:43,287,470...43,313,477
Ensembl chr 5:43,287,470...43,313,512
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 EXP SMPDB SMP:00389 NCBI chr 1:162,790,702...162,812,823
Ensembl chr 1:162,790,702...162,812,823
JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 EXP SMPDB SMP:00389 NCBI chr10:1,039,152...1,056,704
Ensembl chr10:1,039,152...1,049,119
JBrowse link
G LIPA lipase A, lysosomal acid type EXP SMPDB SMP:00389 NCBI chr10:89,213,571...89,251,926
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G LSS lanosterol synthase EXP SMPDB SMP:00389 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
JBrowse link
G MSMO1 methylsterol monooxygenase 1 EXP SMPDB SMP:00389 NCBI chr 4:165,327,669...165,343,164
Ensembl chr 4:165,327,667...165,343,164
JBrowse link
G MVD mevalonate diphosphate decarboxylase EXP SMPDB SMP:00389 NCBI chr16:88,651,935...88,663,153
Ensembl chr16:88,651,935...88,663,161
JBrowse link
G MVK mevalonate kinase EXP SMPDB SMP:00389 NCBI chr12:109,573,461...109,598,125
Ensembl chr12:109,573,255...109,598,125
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like EXP SMPDB SMP:00389 NCBI chr  X:152,831,001...152,869,729
Ensembl chr  X:152,830,967...152,869,729
JBrowse link
G PMVK phosphomevalonate kinase EXP SMPDB SMP:00389 NCBI chr 1:154,924,740...154,942,658
Ensembl chr 1:154,924,740...154,936,719
JBrowse link
G SC5D sterol-C5-desaturase EXP SMPDB SMP:00389 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
JBrowse link
G SOAT1 sterol O-acyltransferase 1 EXP SMPDB SMP:00389 NCBI chr 1:179,293,719...179,358,680
Ensembl chr 1:179,293,714...179,358,680
JBrowse link
G SQLE squalene epoxidase EXP SMPDB SMP:00389 NCBI chr 8:124,998,505...125,022,283
Ensembl chr 8:124,998,497...125,022,283
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 EXP SMPDB SMP:00389 NCBI chr11:65,111,872...65,116,230
Ensembl chr11:65,111,845...65,116,384
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 EXP SMPDB SMP:00545 NCBI chr18:49,782,164...49,813,533
Ensembl chr18:49,782,164...49,813,953
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain EXP SMPDB SMP:00545 NCBI chr 2:210,187,923...210,225,447
Ensembl chr 2:210,187,126...210,225,447
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP SMPDB SMP:00545 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00545 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain EXP SMPDB SMP:00545 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain EXP SMPDB SMP:00545 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00545 NCBI chr11:108,116,705...108,148,822
Ensembl chr11:108,116,695...108,147,603
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 EXP SMPDB SMP:00545 NCBI chr 4:184,755,595...184,826,593
Ensembl chr 4:184,755,595...184,826,818
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A EXP SMPDB SMP:00545 NCBI chr11:68,754,620...68,844,410
Ensembl chr11:68,754,620...68,844,410
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 EXP SMPDB SMP:00545 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 EXP SMPDB SMP:00545 NCBI chr10:133,362,480...133,373,396
Ensembl chr10:133,362,485...133,373,354
JBrowse link
G GCDH glutaryl-CoA dehydrogenase EXP SMPDB SMP:00545 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha EXP SMPDB SMP:00545 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta EXP SMPDB SMP:00545 NCBI chr 2:26,244,917...26,290,465
Ensembl chr 2:26,243,170...26,290,465
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 EXP SMPDB SMP:00540 NCBI chr18:49,782,164...49,813,533
Ensembl chr18:49,782,164...49,813,953
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain EXP SMPDB SMP:00540 NCBI chr 2:210,187,923...210,225,447
Ensembl chr 2:210,187,126...210,225,447
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP SMPDB SMP:00540 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00540 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain EXP SMPDB SMP:00540 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain EXP SMPDB SMP:00540 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00540 NCBI chr11:108,116,705...108,148,822
Ensembl chr11:108,116,695...108,147,603
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 EXP SMPDB SMP:00540 NCBI chr 4:184,755,595...184,826,593
Ensembl chr 4:184,755,595...184,826,818
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A EXP SMPDB SMP:00540 NCBI chr11:68,754,620...68,844,410
Ensembl chr11:68,754,620...68,844,410
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 EXP SMPDB SMP:00540 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 EXP SMPDB SMP:00540 NCBI chr10:133,362,480...133,373,396
Ensembl chr10:133,362,485...133,373,354
JBrowse link
G GCDH glutaryl-CoA dehydrogenase EXP SMPDB SMP:00540 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha EXP SMPDB SMP:00540 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta EXP SMPDB SMP:00540 NCBI chr 2:26,244,917...26,290,465
Ensembl chr 2:26,243,170...26,290,465
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 EXP SMPDB SMP:00319 SMP:00511 NCBI chr 6:159,762,045...159,779,112
Ensembl chr 6:159,762,045...159,779,112
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 EXP SMPDB SMP:00319 SMP:00511 NCBI chr 7:92,112,153...92,134,803
Ensembl chr 7:92,112,153...92,134,803
JBrowse link
G DHCR24 24-dehydrocholesterol reductase EXP SMPDB SMP:00319 SMP:00511 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
JBrowse link
G EBP EBP cholestenol delta-isomerase EXP SMPDB SMP:00319 SMP:00511 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 EXP SMPDB SMP:00319 SMP:00511 NCBI chr 8:11,795,582...11,839,309
Ensembl chr 8:11,795,573...11,839,304
JBrowse link
G FDPS farnesyl diphosphate synthase EXP SMPDB SMP:00319 SMP:00511 NCBI chr 1:155,308,801...155,320,665
Ensembl chr 1:155,308,748...155,320,666
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 EXP SMPDB SMP:00319 SMP:00511 NCBI chr 1:235,327,216...235,344,532
Ensembl chr 1:235,327,350...235,344,532
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase EXP SMPDB SMP:00319 SMP:00511 NCBI chr 5:75,336,334...75,362,116
Ensembl chr 5:75,336,329...75,364,001
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 EXP SMPDB SMP:00319 SMP:00511 NCBI chr 5:43,287,470...43,313,477
Ensembl chr 5:43,287,470...43,313,512
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 EXP SMPDB SMP:00319 SMP:00511 NCBI chr 1:162,790,702...162,812,823
Ensembl chr 1:162,790,702...162,812,823
JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 EXP SMPDB SMP:00319 SMP:00511 NCBI chr10:1,039,152...1,056,704
Ensembl chr10:1,039,152...1,049,119
JBrowse link
G LIPA lipase A, lysosomal acid type EXP SMPDB SMP:00319 SMP:00511 NCBI chr10:89,213,571...89,251,926
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G LSS lanosterol synthase EXP SMPDB SMP:00319 SMP:00511 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
JBrowse link
G MSMO1 methylsterol monooxygenase 1 EXP SMPDB SMP:00319 SMP:00511 NCBI chr 4:165,327,669...165,343,164
Ensembl chr 4:165,327,667...165,343,164
JBrowse link
G MVD mevalonate diphosphate decarboxylase EXP SMPDB SMP:00319 SMP:00511 NCBI chr16:88,651,935...88,663,153
Ensembl chr16:88,651,935...88,663,161
JBrowse link
G MVK mevalonate kinase EXP SMPDB SMP:00319 SMP:00511 NCBI chr12:109,573,461...109,598,125
Ensembl chr12:109,573,255...109,598,125
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like EXP SMPDB SMP:00319 SMP:00511 NCBI chr  X:152,831,001...152,869,729
Ensembl chr  X:152,830,967...152,869,729
JBrowse link
G PMVK phosphomevalonate kinase EXP SMPDB SMP:00319 SMP:00511 NCBI chr 1:154,924,740...154,942,658
Ensembl chr 1:154,924,740...154,936,719
JBrowse link
G SC5D sterol-C5-desaturase EXP SMPDB SMP:00319 SMP:00511 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
JBrowse link
G SOAT1 sterol O-acyltransferase 1 EXP SMPDB SMP:00319 SMP:00511 NCBI chr 1:179,293,719...179,358,680
Ensembl chr 1:179,293,714...179,358,680
JBrowse link
G SQLE squalene epoxidase EXP SMPDB SMP:00319 SMP:00511 NCBI chr 8:124,998,505...125,022,283
Ensembl chr 8:124,998,497...125,022,283
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 EXP SMPDB SMP:00319 SMP:00511 NCBI chr11:65,111,872...65,116,230
Ensembl chr11:65,111,845...65,116,384
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 5957
    disease pathway 2076
      nutritional and metabolic disease pathway 694
        metabolic disease pathway 650
          lipid metabolism disease pathway 95
            hypercholesterolemia pathway 22
            inborn error of lipid metabolism pathway + 95
            xanthomatosis pathway + 17
paths to the root