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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:lysosomal storage disease pathway
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Accession:PW:0001630 term browser browse the term
Definition:Lysosomal storage disease represents a group of rare genetic conditions resulting from deficiencies in particular lysosomal enzymes.
Synonyms:related_synonym: lysosomal storage disorders


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cholesterol ester storage disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00508 NCBI chr 1:47,972,399...47,992,654
Ensembl chr 1:47,972,399...47,992,653
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00508 NCBI chr 4:27,175,564...27,194,018
Ensembl chr 4:27,175,243...27,194,018
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00508 NCBI chr 5:126,164,708...126,188,926
Ensembl chr 5:126,164,674...126,191,206
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00508 NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00508 NCBI chr15:46,339,248...46,367,302
Ensembl chr15:46,339,249...46,367,302
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00508 NCBI chr 2:188,403,595...188,413,219
Ensembl chr 2:188,392,858...188,413,219
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00508 NCBI chr17:53,956,185...53,971,039
Ensembl chr17:53,956,203...53,971,443
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00508 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00508 NCBI chr 2:52,427,351...52,445,082
Ensembl chr 2:52,431,601...52,445,055
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00508 NCBI chr13:88,288,116...88,308,019
Ensembl chr13:88,288,046...88,307,988
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00508 NCBI chr17:57,976,266...57,984,036
Ensembl chr17:57,976,268...57,984,036
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00508 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00508 NCBI chr20:12,844,522...12,870,474
Ensembl chr20:12,842,884...12,870,497
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00508 NCBI chr16:26,859,441...26,875,880
Ensembl chr16:26,859,397...26,875,973
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00508 NCBI chr19:55,258,910...55,268,933
Ensembl chr19:55,258,905...55,268,951
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00508 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00508 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00508 NCBI chr 2:188,784,329...188,793,890
Ensembl chr 2:188,784,222...188,793,895
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00508 NCBI chr 8:46,525,406...46,537,014
Ensembl chr 8:46,525,400...46,537,050
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00508 NCBI chr13:74,035,258...74,077,759
Ensembl chr13:74,035,080...74,077,783
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00508 NCBI chr 7:99,609,929...99,624,803
Ensembl chr 7:99,609,191...99,624,732
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00508 NCBI chr 1:221,426,017...221,430,340
Ensembl chr 1:221,425,987...221,431,713
JBrowse link
Fabry disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00525 NCBI chr 9:10,061,978...10,093,588
Ensembl chr 9:10,061,978...10,093,588
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00525 NCBI chr 1:163,160,987...163,263,621
Ensembl chr 1:163,160,979...163,263,606
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00525 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00525 NCBI chr18:15,462,913...15,525,584
Ensembl chr18:15,462,913...15,525,579
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00525 NCBI chr 7:127,015,162...127,058,056
Ensembl chr 7:127,015,162...127,058,056
JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00525 NCBI chr 6:132,591,968...132,608,600
Ensembl chr 6:132,591,969...132,608,600
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00525 NCBI chr10:108,095,131...108,099,483
Ensembl chr10:108,095,131...108,099,483
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00525 NCBI chr14:84,231,473...84,247,371
Ensembl chr14:84,231,639...84,247,369
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00525 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614
JBrowse link
G Gba glucosylceramidase beta ISO SMPDB SMP:00525 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00525 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00525 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00525 NCBI chr13:26,779,386...26,812,271
Ensembl chr13:26,780,633...26,812,215
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00525 NCBI chr 1:164,803,574...164,814,777
Ensembl chr 1:164,803,574...164,814,651
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00525 NCBI chr 2:44,664,076...44,726,820
Ensembl chr 2:44,664,124...44,726,689
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00525 NCBI chr 1:250,692,448...250,951,685
Ensembl chr 1:250,691,370...250,951,697
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00525 NCBI chr20:30,699,936...30,769,178
Ensembl chr20:30,699,872...30,749,940
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00525 NCBI chr 9:84,203,094...84,321,269
Ensembl chr 9:84,203,072...84,319,874
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00525 NCBI chr 1:101,692,972...101,700,604
Ensembl chr 1:101,692,973...101,697,277
JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00525 NCBI chr17:11,856,525...11,895,566
Ensembl chr17:11,856,525...11,895,566
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00525 NCBI chr 6:111,334,408...111,417,960
Ensembl chr 6:111,339,136...111,417,954
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00525 NCBI chr 5:76,376,722...76,419,564
Ensembl chr 5:76,386,836...76,419,560
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00525 NCBI chr 2:229,644,373...229,718,678
Ensembl chr 2:229,644,382...229,718,659
JBrowse link
french type sialuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amdhd2 amidohydrolase domain containing 2 ISO SMPDB SMP:00216 SMP:00217 NCBI chr10:13,528,400...13,536,949
Ensembl chr10:13,528,413...13,536,899
JBrowse link
G Chit1 chitinase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr13:50,947,020...50,994,644
Ensembl chr13:50,974,872...50,994,643
JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 4:176,994,129...177,012,445
Ensembl chr 4:176,994,129...177,012,444
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr18:31,479,117...31,489,154
Ensembl chr18:31,479,117...31,487,671
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr15:19,721,292...19,734,032
Ensembl chr15:19,721,293...19,733,967
JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00216 SMP:00217 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 4:115,473,848...115,485,027
Ensembl chr 4:115,473,811...115,481,438
JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 3:146,800,018...146,812,988
Ensembl chr 3:146,800,019...146,812,989
JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 5:62,109,352...62,126,492
Ensembl chr 5:62,109,328...62,126,494
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00216 SMP:00217 NCBI chr13:70,938,073...70,981,179
Ensembl chr13:70,938,082...70,980,913
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00216 SMP:00217 NCBI chr 8:94,225,513...94,243,230
Ensembl chr 8:94,225,515...94,243,215
JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00216 SMP:00217 NCBI chr  X:156,854,490...156,863,548
Ensembl chr  X:156,854,594...156,863,528
JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO SMPDB SMP:00216 SMP:00217 NCBI chr 8:85,891,245...85,926,466
Ensembl chr 8:85,891,257...85,926,450
JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr13:88,463,532...88,497,901
Ensembl chr13:88,463,532...88,497,901
JBrowse link
Gaucher's disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00349 NCBI chr 9:10,061,978...10,093,588
Ensembl chr 9:10,061,978...10,093,588
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00349 NCBI chr 1:163,160,987...163,263,621
Ensembl chr 1:163,160,979...163,263,606
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00349 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00349 NCBI chr18:15,462,913...15,525,584
Ensembl chr18:15,462,913...15,525,579
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00349 NCBI chr 7:127,015,162...127,058,056
Ensembl chr 7:127,015,162...127,058,056
JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00349 NCBI chr 6:132,591,968...132,608,600
Ensembl chr 6:132,591,969...132,608,600
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00349 NCBI chr10:108,095,131...108,099,483
Ensembl chr10:108,095,131...108,099,483
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00349 NCBI chr14:84,231,473...84,247,371
Ensembl chr14:84,231,639...84,247,369
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00349 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614
JBrowse link
G Gba glucosylceramidase beta ISO SMPDB SMP:00349 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00349 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00349 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00349 NCBI chr13:26,779,386...26,812,271
Ensembl chr13:26,780,633...26,812,215
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00349 NCBI chr 1:164,803,574...164,814,777
Ensembl chr 1:164,803,574...164,814,651
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00349 NCBI chr 2:44,664,076...44,726,820
Ensembl chr 2:44,664,124...44,726,689
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00349 NCBI chr 1:250,692,448...250,951,685
Ensembl chr 1:250,691,370...250,951,697
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00349 NCBI chr20:30,699,936...30,769,178
Ensembl chr20:30,699,872...30,749,940
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00349 NCBI chr 9:84,203,094...84,321,269
Ensembl chr 9:84,203,072...84,319,874
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00349 NCBI chr 1:101,692,972...101,700,604
Ensembl chr 1:101,692,973...101,697,277
JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00349 NCBI chr17:11,856,525...11,895,566
Ensembl chr17:11,856,525...11,895,566
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00349 NCBI chr 6:111,334,408...111,417,960
Ensembl chr 6:111,339,136...111,417,954
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00349 NCBI chr 5:76,376,722...76,419,564
Ensembl chr 5:76,386,836...76,419,560
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00349 NCBI chr 2:229,644,373...229,718,678
Ensembl chr 2:229,644,382...229,718,659
JBrowse link
Krabbe 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:00348 NCBI chr 9:10,061,978...10,093,588
Ensembl chr 9:10,061,978...10,093,588
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00348 NCBI chr 1:163,160,987...163,263,621
Ensembl chr 1:163,160,979...163,263,606
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00348 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00348 NCBI chr18:15,462,913...15,525,584
Ensembl chr18:15,462,913...15,525,579
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00348 NCBI chr 7:127,015,162...127,058,056
Ensembl chr 7:127,015,162...127,058,056
JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00348 NCBI chr 6:132,591,968...132,608,600
Ensembl chr 6:132,591,969...132,608,600
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00348 NCBI chr10:108,095,131...108,099,483
Ensembl chr10:108,095,131...108,099,483
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00348 NCBI chr14:84,231,473...84,247,371
Ensembl chr14:84,231,639...84,247,369
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00348 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614
JBrowse link
G Gba glucosylceramidase beta ISO SMPDB SMP:00348 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00348 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00348 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00348 NCBI chr13:26,779,386...26,812,271
Ensembl chr13:26,780,633...26,812,215
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00348 NCBI chr 1:164,803,574...164,814,777
Ensembl chr 1:164,803,574...164,814,651
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00348 NCBI chr 2:44,664,076...44,726,820
Ensembl chr 2:44,664,124...44,726,689
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00348 NCBI chr 1:250,692,448...250,951,685
Ensembl chr 1:250,691,370...250,951,697
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00348 NCBI chr20:30,699,936...30,769,178
Ensembl chr20:30,699,872...30,749,940
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00348 NCBI chr 9:84,203,094...84,321,269
Ensembl chr 9:84,203,072...84,319,874
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00348 NCBI chr 1:101,692,972...101,700,604
Ensembl chr 1:101,692,973...101,697,277
JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00348 NCBI chr17:11,856,525...11,895,566
Ensembl chr17:11,856,525...11,895,566
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00348 NCBI chr 6:111,334,408...111,417,960
Ensembl chr 6:111,339,136...111,417,954
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00348 NCBI chr 5:76,376,722...76,419,564
Ensembl chr 5:76,386,836...76,419,560
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00348 NCBI chr 2:229,644,373...229,718,678
Ensembl chr 2:229,644,382...229,718,659
JBrowse link
metachromatic leukodystrophy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00347 NCBI chr 9:10,061,978...10,093,588
Ensembl chr 9:10,061,978...10,093,588
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00347 NCBI chr 1:163,160,987...163,263,621
Ensembl chr 1:163,160,979...163,263,606
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00347 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00347 NCBI chr18:15,462,913...15,525,584
Ensembl chr18:15,462,913...15,525,579
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00347 NCBI chr 7:127,015,162...127,058,056
Ensembl chr 7:127,015,162...127,058,056
JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00347 NCBI chr 6:132,591,968...132,608,600
Ensembl chr 6:132,591,969...132,608,600
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00347 NCBI chr10:108,095,131...108,099,483
Ensembl chr10:108,095,131...108,099,483
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00347 NCBI chr14:84,231,473...84,247,371
Ensembl chr14:84,231,639...84,247,369
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00347 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614
JBrowse link
G Gba glucosylceramidase beta ISO SMPDB SMP:00347 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00347 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00347 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00347 NCBI chr13:26,779,386...26,812,271
Ensembl chr13:26,780,633...26,812,215
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00347 NCBI chr 1:164,803,574...164,814,777
Ensembl chr 1:164,803,574...164,814,651
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00347 NCBI chr 2:44,664,076...44,726,820
Ensembl chr 2:44,664,124...44,726,689
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00347 NCBI chr 1:250,692,448...250,951,685
Ensembl chr 1:250,691,370...250,951,697
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00347 NCBI chr20:30,699,936...30,769,178
Ensembl chr20:30,699,872...30,749,940
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00347 NCBI chr 9:84,203,094...84,321,269
Ensembl chr 9:84,203,072...84,319,874
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00347 NCBI chr 1:101,692,972...101,700,604
Ensembl chr 1:101,692,973...101,697,277
JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00347 NCBI chr17:11,856,525...11,895,566
Ensembl chr17:11,856,525...11,895,566
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00347 NCBI chr 6:111,334,408...111,417,960
Ensembl chr 6:111,339,136...111,417,954
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00347 NCBI chr 5:76,376,722...76,419,564
Ensembl chr 5:76,386,836...76,419,560
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00347 NCBI chr 2:229,644,373...229,718,678
Ensembl chr 2:229,644,382...229,718,659
JBrowse link
ocular nonnephropathic cystinosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cars cysteinyl-tRNA synthetase ISO SMPDB SMP:00722 NCBI chr 1:216,759,367...216,801,652
Ensembl chr 1:216,759,366...216,801,656
JBrowse link
G Cdo1 cysteine dioxygenase type 1 ISO SMPDB SMP:00722 NCBI chr18:40,702,027...40,716,901
Ensembl chr18:40,701,984...40,716,686
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00722 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO SMPDB SMP:00722 NCBI chr10:59,749,250...59,772,475
Ensembl chr10:59,749,256...59,764,868
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00722 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO SMPDB SMP:00722 NCBI chr 2:225,827,504...225,847,876
Ensembl chr 2:225,827,504...225,847,874
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00722 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
JBrowse link
G Mpst mercaptopyruvate sulfurtransferase ISO SMPDB SMP:00722 NCBI chr 7:119,626,636...119,631,317
Ensembl chr 7:119,626,637...119,631,425
JBrowse link
sialic acid storage disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amdhd2 amidohydrolase domain containing 2 ISO SMPDB SMP:00240 NCBI chr10:13,528,400...13,536,949
Ensembl chr10:13,528,413...13,536,899
JBrowse link
G Chit1 chitinase 1 ISO SMPDB SMP:00240 NCBI chr13:50,947,020...50,994,644
Ensembl chr13:50,974,872...50,994,643
JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00240 NCBI chr 4:176,994,129...177,012,445
Ensembl chr 4:176,994,129...177,012,444
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00240 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00240 NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00240 NCBI chr18:31,479,117...31,489,154
Ensembl chr18:31,479,117...31,487,671
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00240 NCBI chr15:19,721,292...19,734,032
Ensembl chr15:19,721,293...19,733,967
JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00240 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00240 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00240 NCBI chr 4:115,473,848...115,485,027
Ensembl chr 4:115,473,811...115,481,438
JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00240 NCBI chr 3:146,800,018...146,812,988
Ensembl chr 3:146,800,019...146,812,989
JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00240 NCBI chr 5:62,109,352...62,126,492
Ensembl chr 5:62,109,328...62,126,494
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00240 NCBI chr13:70,938,073...70,981,179
Ensembl chr13:70,938,082...70,980,913
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00240 NCBI chr 8:94,225,513...94,243,230
Ensembl chr 8:94,225,515...94,243,215
JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00240 NCBI chr  X:156,854,490...156,863,548
Ensembl chr  X:156,854,594...156,863,528
JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO SMPDB SMP:00240 NCBI chr 8:85,891,245...85,926,466
Ensembl chr 8:85,891,257...85,926,450
JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00240 NCBI chr13:88,463,532...88,497,901
Ensembl chr13:88,463,532...88,497,901
JBrowse link
Tay-Sachs disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amdhd2 amidohydrolase domain containing 2 ISO SMPDB SMP:00390 NCBI chr10:13,528,400...13,536,949
Ensembl chr10:13,528,413...13,536,899
JBrowse link
G Chit1 chitinase 1 ISO SMPDB SMP:00390 NCBI chr13:50,947,020...50,994,644
Ensembl chr13:50,974,872...50,994,643
JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00390 NCBI chr 4:176,994,129...177,012,445
Ensembl chr 4:176,994,129...177,012,444
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00390 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00390 NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00390 NCBI chr18:31,479,117...31,489,154
Ensembl chr18:31,479,117...31,487,671
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00390 NCBI chr15:19,721,292...19,734,032
Ensembl chr15:19,721,293...19,733,967
JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00390 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00390 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00390 NCBI chr 4:115,473,848...115,485,027
Ensembl chr 4:115,473,811...115,481,438
JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00390 NCBI chr 3:146,800,018...146,812,988
Ensembl chr 3:146,800,019...146,812,989
JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00390 NCBI chr 5:62,109,352...62,126,492
Ensembl chr 5:62,109,328...62,126,494
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00390 NCBI chr13:70,938,073...70,981,179
Ensembl chr13:70,938,082...70,980,913
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00390 NCBI chr 8:94,225,513...94,243,230
Ensembl chr 8:94,225,515...94,243,215
JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00390 NCBI chr  X:156,854,490...156,863,548
Ensembl chr  X:156,854,594...156,863,528
JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO SMPDB SMP:00390 NCBI chr 8:85,891,245...85,926,466
Ensembl chr 8:85,891,257...85,926,450
JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00390 NCBI chr13:88,463,532...88,497,901
Ensembl chr13:88,463,532...88,497,901
JBrowse link
Wolman disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 1:47,972,399...47,992,654
Ensembl chr 1:47,972,399...47,992,653
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 4:27,175,564...27,194,018
Ensembl chr 4:27,175,243...27,194,018
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 5:126,164,708...126,188,926
Ensembl chr 5:126,164,674...126,191,206
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00319 SMP:00511 NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr15:46,339,248...46,367,302
Ensembl chr15:46,339,249...46,367,302
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 2:188,403,595...188,413,219
Ensembl chr 2:188,392,858...188,413,219
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr17:53,956,185...53,971,039
Ensembl chr17:53,956,203...53,971,443
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 2:52,427,351...52,445,082
Ensembl chr 2:52,431,601...52,445,055
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00319 SMP:00511 NCBI chr13:88,288,116...88,308,019
Ensembl chr13:88,288,046...88,307,988
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr17:57,976,266...57,984,036
Ensembl chr17:57,976,268...57,984,036
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00319 SMP:00511 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00319 SMP:00511 NCBI chr20:12,844,522...12,870,474
Ensembl chr20:12,842,884...12,870,497
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr16:26,859,441...26,875,880
Ensembl chr16:26,859,397...26,875,973
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00319 SMP:00511 NCBI chr19:55,258,910...55,268,933
Ensembl chr19:55,258,905...55,268,951
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00319 SMP:00511 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 2:188,784,329...188,793,890
Ensembl chr 2:188,784,222...188,793,895
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 8:46,525,406...46,537,014
Ensembl chr 8:46,525,400...46,537,050
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00319 SMP:00511 NCBI chr13:74,035,258...74,077,759
Ensembl chr13:74,035,080...74,077,783
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00319 SMP:00511 NCBI chr 7:99,609,929...99,624,803
Ensembl chr 7:99,609,191...99,624,732
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00319 SMP:00511 NCBI chr 1:221,426,017...221,430,340
Ensembl chr 1:221,425,987...221,431,713
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6103
    disease pathway 1957
      congenital disease pathway 529
        inborn genetic disease pathway 529
          inborn error of metabolism pathway 529
            lysosomal storage disease pathway 70
              cholesterol ester storage disease pathway + 22
              cystinosis pathway + 8
              mucopolysaccharidoses pathway 0
              nervous system lysosomal storage disease pathway + 40
paths to the root