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Pathways
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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:brain disease pathway
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Accession:PW:0001414 term browser browse the term
Definition:The congenital and acquired diseases affecting the brain, including but not limited to the cerebral cortex, basal ganglia, thalamus and hypothalamus, brain stem, cerebellum.


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2-hydroxyglutaric aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00136 NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,970...34,015,474 		JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00136 NCBI chr 6:77,373,999...77,404,015
Ensembl chr 6:77,374,002...77,404,036 		JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 ISO SMPDB SMP:00136 NCBI chr 7:19,351,485...19,375,515
Ensembl chr 7:19,351,361...19,379,098 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00136 NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,492 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00136 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,150,157...113,339,078 		JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00136 NCBI chr 3:22,654,351...22,684,246
Ensembl chr 3:22,657,766...22,684,241 		JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00136 NCBI chr15:76,991,863...77,034,819
Ensembl chr15:76,991,928...77,034,812 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00136 NCBI chr 7:27,209,565...27,253,535
Ensembl chr 7:27,209,565...27,253,530 		JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00136 NCBI chr 4:123,371,198...123,390,130
Ensembl chr 4:123,371,193...123,390,131 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00136 NCBI chr 3:73,028,750...73,086,191
Ensembl chr 3:73,028,804...73,085,319 		JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00136 NCBI chr 5:21,806,405...21,820,001
Ensembl chr 5:21,806,406...21,820,001 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00136 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,520 		JBrowse link
G GLUL glutamate-ammonia ligase ISO SMPDB SMP:00136 NCBI chr 9:123,751,551...123,762,575
Ensembl chr 9:123,751,548...123,762,547 		JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00136 NCBI chr13:95,742,342...95,820,903
Ensembl chr13:95,738,659...95,819,759 		JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00136 NCBI chr 1:182,404,460...182,423,453
Ensembl chr 1:182,407,229...182,423,441 		JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00136 NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,200...20,432,067 		JBrowse link
G GSR glutathione-disulfide reductase ISO SMPDB SMP:00136 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,984 		JBrowse link
G GSS glutathione synthetase ISO SMPDB SMP:00136 NCBI chr17:38,316,199...38,342,253
Ensembl chr17:38,312,720...38,342,298 		JBrowse link
G NADSYN1 NAD synthetase 1 ISO SMPDB SMP:00136 NCBI chr 2:2,334,793...2,372,356
Ensembl chr 2:2,334,799...2,372,361 		JBrowse link
G NAGK N-acetylglucosamine kinase ISO SMPDB SMP:00136 NCBI chr 3:71,496,191...71,513,020
Ensembl chr 3:71,500,337...71,512,955 		JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00136 NCBI chr 8:55,652,194...55,701,077
Ensembl chr 8:55,654,377...55,701,077 		JBrowse link
G PPP1R16A protein phosphatase 1 regulatory subunit 16A ISO SMPDB SMP:00136 NCBI chr 4:302,621...320,048
Ensembl chr 4:297,748...320,056 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00136 NCBI chr13:31,715,686...31,723,200
Ensembl chr13:31,715,689...31,723,197 		JBrowse link
3-methylcrotonyl CoA carboxylase 1 deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00237 NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,970...34,015,474 		JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00237 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,284,140...99,311,321 		JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00237 NCBI chr 9:60,807,405...60,828,379
Ensembl chr 9:60,807,486...60,828,389 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00237 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,381...137,595,108 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00237 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,642,881...40,659,081 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00237 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00237 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00237 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124 		JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00237 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,360,610...97,381,830 		JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00237 NCBI chr15:104,157,748...104,234,533
Ensembl chr15:104,157,527...104,236,006 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00237 NCBI chr14:2,398,456...2,546,329
Ensembl chr14:2,398,462...2,546,342 		JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00237 NCBI chr 5:48,814,212...48,925,632
Ensembl chr 5:48,814,313...48,925,973 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00237 NCBI chr 6:49,381,995...49,398,745
Ensembl chr 6:49,381,967...49,398,743 		JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00237 NCBI chr 1:85,755,819...86,017,661
Ensembl chr 1:85,755,743...86,017,650 		JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00237 NCBI chr 4:117,884,657...117,924,006
Ensembl chr 4:117,875,002...117,936,612 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00237 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00237 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,339,364...141,348,994 		JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00237 NCBI chr18:44,985,410...45,102,171
Ensembl chr18:44,985,425...45,208,347 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00237 NCBI chr15:94,795,744...94,941,362
Ensembl chr15:94,792,985...94,941,266 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00237 NCBI chr 6:81,611,516...81,630,454
Ensembl chr 6:81,611,422...81,630,429 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00237 NCBI chr 4:101,420,941...101,440,302
Ensembl chr 4:101,420,872...101,438,126 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00237 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,548...46,220,883 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00237 NCBI chr 1:130,896,488...130,910,582
Ensembl chr 1:130,893,984...130,910,586 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00237 NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,915,730...121,106,395 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00237 NCBI chr16:47,917,308...47,996,540
Ensembl chr16:47,917,291...47,996,534 		JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00237 NCBI chr 1:143,993,714...144,022,372
Ensembl chr 1:143,993,394...144,024,879 		JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00237 NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,246...43,624,671 		JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00237 NCBI chr16:26,514,497...26,659,739
Ensembl chr16:26,512,401...26,659,808 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00237 NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,286,430 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00237 NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,316,568 		JBrowse link
adrenoleukodystrophy pathway 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:00516 NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741 		JBrowse link
G ABCD2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00516 NCBI chr 5:71,123,187...71,180,758
Ensembl chr 5:71,122,325...71,180,723 		JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00516 NCBI chr15:45,866,858...45,936,327
Ensembl chr15:45,866,857...45,963,729 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00516 NCBI chr 6:159,038,129...159,061,327
Ensembl chr 6:159,036,422...159,061,327 		JBrowse link
G CRAT carnitine O-acetyltransferase ISO SMPDB SMP:00516 NCBI chr 1:269,387,430...269,401,334
Ensembl chr 1:269,386,650...269,401,331 		JBrowse link
G CROT carnitine O-octanoyltransferase ISO SMPDB SMP:00516 NCBI chr 9:93,263,606...93,308,150
Ensembl chr 9:93,258,619...93,308,151 		JBrowse link
G PEX11G peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00516 NCBI chr 2:71,639,289...71,649,445
Ensembl chr 2:71,639,301...71,652,903 		JBrowse link
G PEX13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00516 NCBI chr 3:80,757,470...80,791,107
Ensembl chr 3:80,753,908...80,791,056 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00516 NCBI chr 6:70,737,871...70,872,074
Ensembl chr 6:70,737,905...70,872,072 		JBrowse link
G SLC25A20 solute carrier family 25 member 20 ISO SMPDB SMP:00516 NCBI chr13:31,523,820...31,553,289
Ensembl chr13:31,523,821...31,553,286 		JBrowse link
argininosuccinic aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00003 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,046...32,028,988 		JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00003 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,867 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00003 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,364 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00003 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,150,157...113,339,078 		JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00003 NCBI chr 5:21,806,405...21,820,001
Ensembl chr 5:21,806,406...21,820,001 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00003 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,520 		JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00003 NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,200...20,432,067 		JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00003 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,821 		JBrowse link
G PPP1R16A protein phosphatase 1 regulatory subunit 16A ISO SMPDB SMP:00003 NCBI chr 4:302,621...320,048
Ensembl chr 4:297,748...320,056 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00003 NCBI chr 3:76,938,102...76,970,519
Ensembl chr 3:76,938,107...76,970,508 		JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00003 NCBI chr 6:52,647,432...52,661,464
Ensembl chr 6:52,647,438...52,661,459 		JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00003 NCBI chr15:77,895,935...78,021,930
Ensembl chr15:77,895,938...78,098,383 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00003 NCBI chr11:15,494,176...15,551,172
Ensembl chr11:15,494,385...15,559,312 		JBrowse link
beta-ureidopropionase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK3 adenylate kinase 3 ISO SMPDB SMP:00172 NCBI chr 1:217,236,561...217,263,144
Ensembl chr 1:217,236,482...217,261,367 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00172 NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,492 		JBrowse link
G CANT1 calcium activated nucleotidase 1 ISO SMPDB SMP:00172 NCBI chr12:3,188,622...3,207,014
Ensembl chr12:3,198,806...3,204,488 		JBrowse link
G CDA cytidine deaminase ISO SMPDB SMP:00172 NCBI chr 6:78,824,248...78,849,154
Ensembl chr 6:78,824,270...78,849,547 		JBrowse link
G CMPK2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00172 NCBI chr 3:128,903,395...128,917,873
Ensembl chr 3:128,903,616...128,917,871 		JBrowse link
G CTPS1 CTP synthase 1 ISO SMPDB SMP:00172 NCBI chr 6:170,201,749...170,233,105
Ensembl chr 6:170,201,751...170,233,016 		JBrowse link
G DCTD dCMP deaminase ISO SMPDB SMP:00172 NCBI chr15:44,466,312...44,492,594
Ensembl chr15:44,466,315...44,490,831 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00172 NCBI chr 6:14,942,898...14,956,000
Ensembl chr 6:14,942,933...14,955,997 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO SMPDB SMP:00172 NCBI chr 4:119,931,471...120,712,461
Ensembl chr 4:119,931,414...120,712,459 		JBrowse link
G DPYS dihydropyrimidinase ISO SMPDB SMP:00172 NCBI chr 4:32,791,152...32,879,489
Ensembl chr 4:32,789,460...32,879,489 		JBrowse link
G DUT deoxyuridine triphosphatase ISO SMPDB SMP:00172 NCBI chr 1:123,451,207...123,462,267
Ensembl chr 1:123,450,858...123,462,245 		JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00172 NCBI chr 1:225,425,389...225,589,835
Ensembl chr 1:225,403,138...225,589,827 		JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00172 NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,784 		JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00172 NCBI chr13:31,048,367...31,053,285
Ensembl chr13:31,046,948...31,053,130 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00172 NCBI chr14:114,062,451...114,167,460
Ensembl chr14:114,062,459...114,145,109 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00172 NCBI chr 3:126,357,198...126,367,145
Ensembl chr 3:126,347,819...126,365,644 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00172 NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,758...34,859,778 		JBrowse link
G TK1 thymidine kinase 1 ISO SMPDB SMP:00172 NCBI chr12:3,785,997...3,794,824
Ensembl chr12:3,786,031...3,795,917 		JBrowse link
G TYMS thymidylate synthetase ISO SMPDB SMP:00172 NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,642,381...105,660,578 		JBrowse link
G UCKL1 uridine-cytidine kinase 1 like 1 ISO SMPDB SMP:00172 NCBI chr17:62,785,419...62,796,396
Ensembl chr17:62,785,422...62,796,378 		JBrowse link
G UMPS uridine monophosphate synthetase ISO SMPDB SMP:00172 NCBI chr13:135,611,857...135,650,656
Ensembl chr13:135,610,058...135,650,603 		JBrowse link
G UPB1 beta-ureidopropionase 1 ISO SMPDB SMP:00172 NCBI chr14:49,533,208...49,561,518
Ensembl chr14:49,533,231...49,565,075 		JBrowse link
G UPP2 uridine phosphorylase 2 ISO SMPDB SMP:00172 NCBI chr15:65,088,652...65,131,739
Ensembl chr15:65,088,795...65,131,788 		JBrowse link
Canavan disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00175 NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,970...34,015,474 		JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00175 NCBI chr 5:8,027,799...8,045,480
Ensembl chr 5:8,025,508...8,047,603 		JBrowse link
G ADSS1 adenylosuccinate synthase 1 ISO SMPDB SMP:00175
G ASL argininosuccinate lyase ISO SMPDB SMP:00175 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,867 		JBrowse link
G ASNS asparagine synthetase (glutamine-hydrolyzing) ISO SMPDB SMP:00175 NCBI chr 9:77,318,341...77,336,290
Ensembl chr 9:77,318,213...77,343,035 		JBrowse link
G ASPA aspartoacylase ISO SMPDB SMP:00175 NCBI chr12:49,612,845...49,630,303
Ensembl chr12:49,610,519...49,641,864 		JBrowse link
G ASRGL1 asparaginase and isoaspartyl peptidase 1 ISO SMPDB SMP:00175 NCBI chr 2:9,328,260...9,353,384
Ensembl chr 2:9,328,269...9,353,340 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,364 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00175 NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,492 		JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chr15:15,810,497...15,885,706
Ensembl chr15:15,810,618...15,885,706 		JBrowse link
G DDO D-aspartate oxidase ISO SMPDB SMP:00175 NCBI chr 1:76,391,112...76,417,147
Ensembl chr 1:76,391,116...76,417,301 		JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00175 NCBI chr15:76,991,863...77,034,819
Ensembl chr15:76,991,928...77,034,812 		JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00175 NCBI chr 6:54,906,401...54,945,840
Ensembl chr 6:54,906,406...54,916,081 		JBrowse link
G NARS1 asparaginyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chr 1:106,911,267...106,933,105
Ensembl chr 1:106,911,277...106,933,118 		JBrowse link
carbamoyl phosphate synthetase I deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00002 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,046...32,028,988 		JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,867 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,364 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,150,157...113,339,078 		JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chr 5:21,806,405...21,820,001
Ensembl chr 5:21,806,406...21,820,001 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,520 		JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,200...20,432,067 		JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00002 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,821 		JBrowse link
G PPP1R16A protein phosphatase 1 regulatory subunit 16A ISO SMPDB SMP:00002 NCBI chr 4:302,621...320,048
Ensembl chr 4:297,748...320,056 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chr 3:76,938,102...76,970,519
Ensembl chr 3:76,938,107...76,970,508 		JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chr 6:52,647,432...52,661,464
Ensembl chr 6:52,647,438...52,661,459 		JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chr15:77,895,935...78,021,930
Ensembl chr15:77,895,938...78,098,383 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chr11:15,494,176...15,551,172
Ensembl chr11:15,494,385...15,559,312 		JBrowse link
carnosinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00493 NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,970...34,015,474 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00493 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124 		JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00493 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,360,610...97,381,830 		JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO SMPDB SMP:00493 NCBI chr 1:149,523,983...149,564,728
Ensembl chr 1:149,521,510...149,562,623 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO SMPDB SMP:00493 NCBI chr 4:119,931,471...120,712,461
Ensembl chr 4:119,931,414...120,712,459 		JBrowse link
G DPYS dihydropyrimidinase ISO SMPDB SMP:00493 NCBI chr 4:32,791,152...32,879,489
Ensembl chr 4:32,789,460...32,879,489 		JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00493 NCBI chr15:76,991,863...77,034,819
Ensembl chr15:76,991,928...77,034,812 		JBrowse link
G LOC110256000 membrane primary amine oxidase-like ISO SMPDB SMP:00493 NCBI chr12:19,996,324...20,007,006 JBrowse link
G UPB1 beta-ureidopropionase 1 ISO SMPDB SMP:00493 NCBI chr14:49,533,208...49,561,518
Ensembl chr14:49,533,231...49,565,075 		JBrowse link
citrullinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00001 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,046...32,028,988 		JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00001 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,867 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00001 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,364 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00001 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,150,157...113,339,078 		JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00001 NCBI chr 5:21,806,405...21,820,001
Ensembl chr 5:21,806,406...21,820,001 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00001 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,520 		JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00001 NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,200...20,432,067 		JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00001 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,821 		JBrowse link
G PPP1R16A protein phosphatase 1 regulatory subunit 16A ISO SMPDB SMP:00001 NCBI chr 4:302,621...320,048
Ensembl chr 4:297,748...320,056 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00001 NCBI chr 3:76,938,102...76,970,519
Ensembl chr 3:76,938,107...76,970,508 		JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00001 NCBI chr 6:52,647,432...52,661,464
Ensembl chr 6:52,647,438...52,661,459 		JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00001 NCBI chr15:77,895,935...78,021,930
Ensembl chr15:77,895,938...78,098,383 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00001 NCBI chr11:15,494,176...15,551,172
Ensembl chr11:15,494,385...15,559,312 		JBrowse link
ethylmalonic encephalopathy 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:00181 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,284,140...99,311,321 		JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00181 NCBI chr15:112,935,631...112,969,381
Ensembl chr15:112,933,506...112,969,577 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00181 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,381...137,595,108 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00181 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,642,881...40,659,081 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00181 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00181 NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,402...52,581,748 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00181 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633 		JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00181 NCBI chr15:45,866,858...45,936,327
Ensembl chr15:45,866,857...45,963,729 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00181 NCBI chr 2:4,250,642...4,293,914
Ensembl chr 2:4,233,099...4,293,911 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00181 NCBI chr 6:159,038,129...159,061,327
Ensembl chr 6:159,036,422...159,061,327 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00181 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,339,364...141,348,994 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00181 NCBI chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00181 NCBI chr 3:112,753,343...112,797,627
Ensembl chr 3:112,752,865...112,797,733 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00181 NCBI chr 3:112,712,894...112,753,121
Ensembl chr 3:112,704,024...112,753,086 		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 2:72,704,603...72,767,474
Ensembl chr 2:72,743,643...72,769,570 		JBrowse link
G ACER3 alkaline ceramidase 3 ISO SMPDB SMP:00525 NCBI chr 9:10,985,078...11,167,386
Ensembl chr 9:10,967,857...11,162,502 		JBrowse link
G ARSA arylsulfatase A ISO SMPDB SMP:00525 NCBI chr 5:107,103...110,330
Ensembl chr 5:107,149...111,518 		JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00525 NCBI chr 6:115,525,515...115,593,265
Ensembl chr 6:115,524,636...115,593,270 		JBrowse link
G CERK ceramide kinase ISO SMPDB SMP:00525 NCBI chr 5:2,818,738...2,870,200
Ensembl chr 5:2,818,784...2,870,195 		JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00525 NCBI chr 7:121,058,102...121,131,612
Ensembl chr 7:121,058,105...121,076,328 		JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00525 NCBI chr12:2,612,543...2,619,541
Ensembl chr12:2,612,574...2,619,519 		JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00525 NCBI chr14:47,455,089...47,476,459
Ensembl chr14:47,457,787...47,476,455 		JBrowse link
G GALC galactosylceramidase ISO SMPDB SMP:00525 NCBI chr 7:109,894,576...109,961,407
Ensembl chr 7:109,894,578...109,961,413 		JBrowse link
G GBA1 glucosylceramidase beta 1 ISO SMPDB SMP:00525 NCBI chr 4:94,583,905...94,606,689
Ensembl chr 4:94,584,134...94,609,745 		JBrowse link
G GLA galactosidase alpha ISO SMPDB SMP:00525 NCBI chr  X:83,024,582...83,032,273
Ensembl chr  X:83,023,903...83,032,570 		JBrowse link
G GLB1 galactosidase beta 1 ISO SMPDB SMP:00525 NCBI chr13:18,878,407...18,978,999
Ensembl chr13:18,878,612...18,953,146 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00525 NCBI chr 1:158,288,544...158,329,898
Ensembl chr 1:158,288,544...158,329,881 		JBrowse link
G NEU3 neuraminidase 3 ISO SMPDB SMP:00525 NCBI chr 9:9,315,263...9,333,878
Ensembl chr 9:9,315,334...9,334,918 		JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00525 NCBI chr16:34,604,367...34,741,524
Ensembl chr16:34,600,719...34,744,437 		JBrowse link
G SGMS1 sphingomyelin synthase 1 ISO SMPDB SMP:00525 NCBI chr14:99,147,266...99,458,111
Ensembl chr14:99,147,272...99,185,082 		JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00525 NCBI chr14:73,696,902...73,781,830
Ensembl chr14:73,724,100...73,781,800 		JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00525 NCBI chr15:124,316,309...124,462,855
Ensembl chr15:124,318,955...124,462,851 		JBrowse link
G SPHK2 sphingosine kinase 2 ISO SMPDB SMP:00525 NCBI chr 6:53,982,911...53,986,779
Ensembl chr 6:53,979,012...53,986,768 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00525 NCBI chr14:3,081,964...3,138,113
Ensembl chr14:3,081,972...3,138,103 		JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00525 NCBI chr 7:100,545,360...100,638,973
Ensembl chr 7:100,544,478...100,638,905 		JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00525 NCBI chr 1:252,651,850...252,690,817
Ensembl chr 1:252,651,879...252,688,550 		JBrowse link
G UGT8 UDP glycosyltransferase 8 ISO SMPDB SMP:00525 NCBI chr 8:108,233,134...108,315,284
Ensembl chr 8:108,233,143...108,314,921 		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 chr 3:39,523,076...39,532,590
Ensembl chr 3:39,522,163...39,532,995 		JBrowse link
G CHIT1 chitinase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr 9:113,927,715...113,941,445
Ensembl chr 9:113,927,720...113,941,433 		JBrowse link
G CMAS cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 5:51,438,175...51,458,531
Ensembl chr 5:51,438,020...51,458,615 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr 3:73,028,750...73,086,191
Ensembl chr 3:73,028,804...73,085,319 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767 		JBrowse link
G GNPDA1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr 2:143,604,362...143,616,037
Ensembl chr 2:143,604,362...143,615,990 		JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr 1:182,404,460...182,423,453
Ensembl chr 1:182,407,229...182,423,441 		JBrowse link
G HEXA hexosaminidase subunit alpha ISO SMPDB SMP:00216 SMP:00217 NCBI chr 7:60,878,531...60,911,537
Ensembl chr 7:60,878,284...60,913,339 		JBrowse link
G HK1 hexokinase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr14:72,383,328...72,460,927
Ensembl chr14:72,351,246...72,460,924 		JBrowse link
G NAGK N-acetylglucosamine kinase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 3:71,496,191...71,513,020
Ensembl chr 3:71,500,337...71,512,955 		JBrowse link
G NANP N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00216 SMP:00217 NCBI chr17:31,206,265...31,217,366
Ensembl chr17:31,208,181...31,217,310 		JBrowse link
G NANS N-acetylneuraminate synthase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 1:239,881,984...239,912,727
Ensembl chr 1:239,881,876...239,919,251 		JBrowse link
G NPL N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00216 SMP:00217 NCBI chr 9:124,093,579...124,132,862
Ensembl chr 9:124,093,604...124,132,860 		JBrowse link
G PGM3 phosphoglucomutase 3 ISO SMPDB SMP:00216 SMP:00217 NCBI chr 1:83,003,622...83,029,392
Ensembl chr 1:83,003,604...83,029,897 		JBrowse link
G RENBP renin binding protein ISO SMPDB SMP:00216 SMP:00217 NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G SLC17A5 solute carrier family 17 member 5 ISO SMPDB SMP:00216 SMP:00217 NCBI chr 1:92,286,821...92,342,788
Ensembl chr 1:92,286,841...92,342,776 		JBrowse link
G UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chr 4:87,960,056...87,994,032
Ensembl chr 4:87,955,983...87,993,973 		JBrowse link
galactokinase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALE UDP-galactose-4-epimerase ISO SMPDB SMP:00495 NCBI chr 6:81,605,968...81,610,535
Ensembl chr 6:81,605,968...81,610,473 		JBrowse link
G GALK1 galactokinase 1 ISO SMPDB SMP:00495 NCBI chr12:5,642,012...5,651,186
Ensembl chr12:5,642,025...5,651,183 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00495 NCBI chr10:32,151,150...32,154,792
Ensembl chr10:32,151,177...32,154,740 		JBrowse link
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00495 NCBI chr 6:148,851,183...148,918,891
Ensembl chr 6:148,851,183...148,994,952 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00495 NCBI chr 8:30,725,281...30,759,359
Ensembl chr 8:30,725,288...30,759,326 		JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00495 NCBI chr 3:77,975,450...78,032,471
Ensembl chr 3:77,975,441...78,031,703 		JBrowse link
G UXS1 UDP-glucuronate decarboxylase 1 ISO SMPDB SMP:00495 NCBI chr 3:48,871,036...48,940,736
Ensembl chr 3:48,870,948...48,940,721 		JBrowse link
galactosemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1B1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00182 NCBI chr18:14,593,516...14,752,316
Ensembl chr18:14,684,036...14,752,310 		JBrowse link
G B4GALT1 beta-1,4-galactosyltransferase 1 ISO SMPDB SMP:00182 NCBI chr10:33,317,295...33,381,285
Ensembl chr10:33,317,305...33,381,285 		JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00182 NCBI chr12:19,965,885...19,975,783
Ensembl chr12:19,965,330...19,975,857 		JBrowse link
G GAA alpha glucosidase ISO SMPDB SMP:00182 NCBI chr12:2,315,807...2,339,867
Ensembl chr12:2,314,591...2,336,988 		JBrowse link
G GALE UDP-galactose-4-epimerase ISO SMPDB SMP:00182 NCBI chr 6:81,605,968...81,610,535
Ensembl chr 6:81,605,968...81,610,473 		JBrowse link
G GALK1 galactokinase 1 ISO SMPDB SMP:00182 NCBI chr12:5,642,012...5,651,186
Ensembl chr12:5,642,025...5,651,183 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00182 NCBI chr10:32,151,150...32,154,792
Ensembl chr10:32,151,177...32,154,740 		JBrowse link
G GLA galactosidase alpha ISO SMPDB SMP:00182 NCBI chr  X:83,024,582...83,032,273
Ensembl chr  X:83,023,903...83,032,570 		JBrowse link
G GLB1 galactosidase beta 1 ISO SMPDB SMP:00182 NCBI chr13:18,878,407...18,978,999
Ensembl chr13:18,878,612...18,953,146 		JBrowse link
G HK1 hexokinase 1 ISO SMPDB SMP:00182 NCBI chr14:72,383,328...72,460,927
Ensembl chr14:72,351,246...72,460,924 		JBrowse link
G LOC100625897 lactase-phlorizin hydrolase ISO SMPDB SMP:00182 NCBI chr15:16,094,277...16,154,467 JBrowse link
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00182 NCBI chr 6:148,851,183...148,918,891
Ensembl chr 6:148,851,183...148,994,952 		JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00182 NCBI chr 3:77,975,450...78,032,471
Ensembl chr 3:77,975,441...78,031,703 		JBrowse link
GALE deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALE UDP-galactose-4-epimerase ISO SMPDB SMP:00496 NCBI chr 6:81,605,968...81,610,535
Ensembl chr 6:81,605,968...81,610,473 		JBrowse link
G GALK1 galactokinase 1 ISO SMPDB SMP:00496 NCBI chr12:5,642,012...5,651,186
Ensembl chr12:5,642,025...5,651,183 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00496 NCBI chr10:32,151,150...32,154,792
Ensembl chr10:32,151,177...32,154,740 		JBrowse link
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00496 NCBI chr 6:148,851,183...148,918,891
Ensembl chr 6:148,851,183...148,994,952 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00496 NCBI chr 8:30,725,281...30,759,359
Ensembl chr 8:30,725,288...30,759,326 		JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00496 NCBI chr 3:77,975,450...78,032,471
Ensembl chr 3:77,975,441...78,031,703 		JBrowse link
G UXS1 UDP-glucuronate decarboxylase 1 ISO SMPDB SMP:00496 NCBI chr 3:48,871,036...48,940,736
Ensembl chr 3:48,870,948...48,940,721 		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 2:72,704,603...72,767,474
Ensembl chr 2:72,743,643...72,769,570 		JBrowse link
G ACER3 alkaline ceramidase 3 ISO SMPDB SMP:00349 NCBI chr 9:10,985,078...11,167,386
Ensembl chr 9:10,967,857...11,162,502 		JBrowse link
G ARSA arylsulfatase A ISO SMPDB SMP:00349 NCBI chr 5:107,103...110,330
Ensembl chr 5:107,149...111,518 		JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00349 NCBI chr 6:115,525,515...115,593,265
Ensembl chr 6:115,524,636...115,593,270 		JBrowse link
G CERK ceramide kinase ISO SMPDB SMP:00349 NCBI chr 5:2,818,738...2,870,200
Ensembl chr 5:2,818,784...2,870,195 		JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00349 NCBI chr 7:121,058,102...121,131,612
Ensembl chr 7:121,058,105...121,076,328 		JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00349 NCBI chr12:2,612,543...2,619,541
Ensembl chr12:2,612,574...2,619,519 		JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00349 NCBI chr14:47,455,089...47,476,459
Ensembl chr14:47,457,787...47,476,455 		JBrowse link
G GALC galactosylceramidase ISO SMPDB SMP:00349 NCBI chr 7:109,894,576...109,961,407
Ensembl chr 7:109,894,578...109,961,413 		JBrowse link
G GBA1 glucosylceramidase beta 1 ISO SMPDB SMP:00349 NCBI chr 4:94,583,905...94,606,689
Ensembl chr 4:94,584,134...94,609,745 		JBrowse link
G GLA galactosidase alpha ISO SMPDB SMP:00349 NCBI chr  X:83,024,582...83,032,273
Ensembl chr  X:83,023,903...83,032,570 		JBrowse link
G GLB1 galactosidase beta 1 ISO SMPDB SMP:00349 NCBI chr13:18,878,407...18,978,999
Ensembl chr13:18,878,612...18,953,146 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00349 NCBI chr 1:158,288,544...158,329,898
Ensembl chr 1:158,288,544...158,329,881 		JBrowse link
G NEU3 neuraminidase 3 ISO SMPDB SMP:00349 NCBI chr 9:9,315,263...9,333,878
Ensembl chr 9:9,315,334...9,334,918 		JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00349 NCBI chr16:34,604,367...34,741,524
Ensembl chr16:34,600,719...34,744,437 		JBrowse link
G SGMS1 sphingomyelin synthase 1 ISO SMPDB SMP:00349 NCBI chr14:99,147,266...99,458,111
Ensembl chr14:99,147,272...99,185,082 		JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00349 NCBI chr14:73,696,902...73,781,830
Ensembl chr14:73,724,100...73,781,800 		JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00349 NCBI chr15:124,316,309...124,462,855
Ensembl chr15:124,318,955...124,462,851 		JBrowse link
G SPHK2 sphingosine kinase 2 ISO SMPDB SMP:00349 NCBI chr 6:53,982,911...53,986,779
Ensembl chr 6:53,979,012...53,986,768 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00349 NCBI chr14:3,081,964...3,138,113
Ensembl chr14:3,081,972...3,138,103 		JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00349 NCBI chr 7:100,545,360...100,638,973
Ensembl chr 7:100,544,478...100,638,905 		JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00349 NCBI chr 1:252,651,850...252,690,817
Ensembl chr 1:252,651,879...252,688,550 		JBrowse link
G UGT8 UDP glycosyltransferase 8 ISO SMPDB SMP:00349 NCBI chr 8:108,233,134...108,315,284
Ensembl chr 8:108,233,143...108,314,921 		JBrowse link
glutaric aciduria type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AADAT aminoadipate aminotransferase ISO SMPDB SMP:00186 NCBI chr14:19,768,816...19,792,254
Ensembl chr14:19,768,776...19,792,256 		JBrowse link
G AASS aminoadipate-semialdehyde synthase ISO SMPDB SMP:00186 NCBI chr18:24,938,366...25,039,197
Ensembl chr18:24,974,754...25,039,195 		JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00185 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,284,140...99,311,321 		JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00185 NCBI chr15:112,935,631...112,969,381
Ensembl chr15:112,933,506...112,969,577 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00185 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,381...137,595,108 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00185 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,642,881...40,659,081 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00185 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00185 NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,402...52,581,748 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633 		JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00185 NCBI chr15:45,866,858...45,936,327
Ensembl chr15:45,866,857...45,963,729 		JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00186 NCBI chr 2:129,663,226...129,709,728
Ensembl chr 2:129,662,969...129,709,705 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00185 NCBI chr 2:4,250,642...4,293,914
Ensembl chr 2:4,233,099...4,293,911 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00185 NCBI chr 6:159,038,129...159,061,327
Ensembl chr 6:159,036,422...159,061,327 		JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00186 NCBI chr10:59,820,418...59,875,322
Ensembl chr10:59,820,423...59,875,290 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00186 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583 		JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00186 NCBI chr 7:98,091,161...98,111,267
Ensembl chr 7:98,091,124...98,111,572 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00185 SMP:00186 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,339,364...141,348,994 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00185 SMP:00186 NCBI chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868 		JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00186 NCBI chr 8:113,952,561...114,005,510
Ensembl chr 8:113,950,034...114,005,511 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00185 NCBI chr 3:112,753,343...112,797,627
Ensembl chr 3:112,752,865...112,797,733 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00185 NCBI chr 3:112,712,894...112,753,121
Ensembl chr 3:112,704,024...112,753,086 		JBrowse link
G PIPOX pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00186 NCBI chr12:45,256,806...45,270,755
Ensembl chr12:45,257,188...45,322,767 		JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO SMPDB SMP:00186 NCBI chr 2:142,943,565...142,947,313
Ensembl chr 2:142,944,078...142,944,980 		JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO SMPDB SMP:00186 NCBI chr17:5,191,973...5,271,849
Ensembl chr17:5,192,022...5,271,849 		JBrowse link
Hartnup disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP1 aquaporin 1 (Colton blood group) ISO SMPDB SMP:00189 NCBI chr18:42,063,482...42,076,741
Ensembl chr18:42,063,485...42,076,746 		JBrowse link
G AQP2 aquaporin 2 ISO SMPDB SMP:00189 NCBI chr 5:15,862,739...15,868,565
Ensembl chr 5:15,863,486...15,868,565 		JBrowse link
G AQP3 aquaporin 3 ISO SMPDB SMP:00189 NCBI chr10:33,045,374...33,050,285
Ensembl chr10:33,045,245...33,051,082 		JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00189 NCBI chr 4:104,353,506...104,384,321
Ensembl chr 4:104,353,508...104,384,547 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO SMPDB SMP:00189 NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,341,322...90,370,996 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00189 NCBI chr 6:49,905,851...49,927,437
Ensembl chr 6:49,905,847...49,927,633 		JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00189 NCBI chr 4:81,912,543...81,937,015
Ensembl chr 4:81,911,561...81,991,840 		JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00189 NCBI chr12:52,925,697...52,932,638
Ensembl chr12:52,925,693...52,932,635 		JBrowse link
G ATP1B3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00189 NCBI chr13:82,680,442...82,727,052 JBrowse link
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00189 NCBI chr  X:98,514,286...98,535,154
Ensembl chr  X:98,514,305...98,535,149 		JBrowse link
G CLCNK chloride voltage-gated channel K ISO SMPDB SMP:00189 NCBI chr 6:75,178,914...75,192,670 JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 ISO SMPDB SMP:00189 NCBI chr 9:45,165,314...45,172,440 JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 ISO SMPDB SMP:00189 NCBI chr 8:80,303,172...80,669,050
Ensembl chr 8:80,312,234...80,668,412 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00189 NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612 		JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00189 NCBI chr 3:22,832,259...22,902,592
Ensembl chr 3:22,832,262...22,902,063 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO SMPDB SMP:00189 NCBI chr 6:63,568,171...63,578,623 JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00189 NCBI chr 3:22,977,940...23,013,384
Ensembl chr 3:22,977,947...23,013,384 		JBrowse link
G SLC12A1 solute carrier family 12 member 1 ISO SMPDB SMP:00189 NCBI chr 1:123,481,892...123,571,655
Ensembl chr 1:123,481,369...123,571,630 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 ISO SMPDB SMP:00189 NCBI chr 6:18,844,752...18,885,497
Ensembl chr 6:18,844,600...18,885,476 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO SMPDB SMP:00189 NCBI chr 7:80,164,788...80,266,335
Ensembl chr 7:80,164,911...80,268,323 		JBrowse link
G SLC14A2 solute carrier family 14 member 2 ISO SMPDB SMP:00189 NCBI chr 1:94,838,955...95,322,748
Ensembl chr 1:95,255,632...95,320,542 		JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO SMPDB SMP:00189 NCBI chr 1:217,366,493...217,441,643
Ensembl chr 1:217,366,499...217,441,674 		JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO SMPDB SMP:00189 NCBI chr 1:7,289,278...7,323,418
Ensembl chr 1:7,289,831...7,323,146 		JBrowse link
G SLC22A6 solute carrier family 22 member 6 ISO SMPDB SMP:00189 NCBI chr 2:8,809,547...8,817,124
Ensembl chr 2:8,802,349...8,817,337 		JBrowse link
G SLC38A4 solute carrier family 38 member 4 ISO SMPDB SMP:00189 NCBI chr 5:77,411,610...77,489,542
Ensembl chr 5:77,411,613...77,482,013 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO SMPDB SMP:00189 NCBI chr 3:96,157,387...96,201,057
Ensembl chr 3:96,157,380...96,215,454 		JBrowse link
G SLC3A2 solute carrier family 3 member 2 ISO SMPDB SMP:00189 NCBI chr 2:8,892,071...8,919,070
Ensembl chr 2:8,892,089...8,919,072 		JBrowse link
G SLC6A20 solute carrier family 6 member 20 ISO SMPDB SMP:00189 NCBI chr13:28,897,831...28,945,191
Ensembl chr13:28,899,821...28,945,187 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO SMPDB SMP:00189 NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285 		JBrowse link
G SLC7A6 solute carrier family 7 member 6 ISO SMPDB SMP:00189 NCBI chr 6:28,834,797...28,876,154 JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO SMPDB SMP:00189 NCBI chr 7:76,195,774...76,235,406
Ensembl chr 7:76,198,256...76,235,402 		JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO SMPDB SMP:00189 NCBI chr 7:75,854,700...75,921,931
Ensembl chr 7:75,854,882...75,921,931 		JBrowse link
G SLC7A9 solute carrier family 7 member 9 ISO SMPDB SMP:00189 NCBI chr 6:42,664,795...42,706,113
Ensembl chr 6:42,669,093...42,714,267 		JBrowse link
homocarnosinosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00385 NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,970...34,015,474 		JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00385 NCBI chr 6:77,373,999...77,404,015
Ensembl chr 6:77,374,002...77,404,036 		JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 ISO SMPDB SMP:00385 NCBI chr 7:19,351,485...19,375,515
Ensembl chr 7:19,351,361...19,379,098 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00385 NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,492 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00385 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,150,157...113,339,078 		JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00385 NCBI chr 3:22,654,351...22,684,246
Ensembl chr 3:22,657,766...22,684,241 		JBrowse link
G GAD1 glutamate decarboxylase 1 ISO SMPDB SMP:00385 NCBI chr15:76,991,863...77,034,819
Ensembl chr15:76,991,928...77,034,812 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO SMPDB SMP:00385 NCBI chr 7:27,209,565...27,253,535
Ensembl chr 7:27,209,565...27,253,530 		JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit ISO SMPDB SMP:00385 NCBI chr 4:123,371,198...123,390,130
Ensembl chr 4:123,371,193...123,390,131 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00385 NCBI chr 3:73,028,750...73,086,191
Ensembl chr 3:73,028,804...73,085,319 		JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00385 NCBI chr 5:21,806,405...21,820,001
Ensembl chr 5:21,806,406...21,820,001 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00385 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,520 		JBrowse link
G GLUL glutamate-ammonia ligase ISO SMPDB SMP:00385 NCBI chr 9:123,751,551...123,762,575
Ensembl chr 9:123,751,548...123,762,547 		JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00385 NCBI chr13:95,742,342...95,820,903
Ensembl chr13:95,738,659...95,819,759 		JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00385 NCBI chr 1:182,404,460...182,423,453
Ensembl chr 1:182,407,229...182,423,441 		JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00385 NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,200...20,432,067 		JBrowse link
G GSR glutathione-disulfide reductase ISO SMPDB SMP:00385 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,984 		JBrowse link
G GSS glutathione synthetase ISO SMPDB SMP:00385 NCBI chr17:38,316,199...38,342,253
Ensembl chr17:38,312,720...38,342,298 		JBrowse link
G NADSYN1 NAD synthetase 1 ISO SMPDB SMP:00385 NCBI chr 2:2,334,793...2,372,356
Ensembl chr 2:2,334,799...2,372,361 		JBrowse link
G NAGK N-acetylglucosamine kinase ISO SMPDB SMP:00385 NCBI chr 3:71,496,191...71,513,020
Ensembl chr 3:71,500,337...71,512,955 		JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00385 NCBI chr 8:55,652,194...55,701,077
Ensembl chr 8:55,654,377...55,701,077 		JBrowse link
G PPP1R16A protein phosphatase 1 regulatory subunit 16A ISO SMPDB SMP:00385 NCBI chr 4:302,621...320,048
Ensembl chr 4:297,748...320,056 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00385 NCBI chr13:31,715,686...31,723,200
Ensembl chr13:31,715,689...31,723,197 		JBrowse link
hyperargininemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00357 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,046...32,028,988 		JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00357 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,867 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00357 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,364 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00357 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,150,157...113,339,078 		JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00357 NCBI chr 5:21,806,405...21,820,001
Ensembl chr 5:21,806,406...21,820,001 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00357 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,520 		JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00357 NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,200...20,432,067 		JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00357 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,821 		JBrowse link
G PPP1R16A protein phosphatase 1 regulatory subunit 16A ISO SMPDB SMP:00357 NCBI chr 4:302,621...320,048
Ensembl chr 4:297,748...320,056 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00357 NCBI chr 3:76,938,102...76,970,519
Ensembl chr 3:76,938,107...76,970,508 		JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00357 NCBI chr 6:52,647,432...52,661,464
Ensembl chr 6:52,647,438...52,661,459 		JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00357 NCBI chr15:77,895,935...78,021,930
Ensembl chr15:77,895,938...78,098,383 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00357 NCBI chr11:15,494,176...15,551,172
Ensembl chr11:15,494,385...15,559,312 		JBrowse link
hyperlysinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AADAT aminoadipate aminotransferase ISO SMPDB SMP:00527 NCBI chr14:19,768,816...19,792,254
Ensembl chr14:19,768,776...19,792,256 		JBrowse link
G AASS aminoadipate-semialdehyde synthase ISO SMPDB SMP:00527 NCBI chr18:24,938,366...25,039,197
Ensembl chr18:24,974,754...25,039,195 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00527 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633 		JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00527 NCBI chr 2:129,663,226...129,709,728
Ensembl chr 2:129,662,969...129,709,705 		JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00527 NCBI chr10:59,820,418...59,875,322
Ensembl chr10:59,820,423...59,875,290 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00527 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583 		JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00527 NCBI chr 7:98,091,161...98,111,267
Ensembl chr 7:98,091,124...98,111,572 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00527 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,339,364...141,348,994 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868 		JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00527 NCBI chr 8:113,952,561...114,005,510
Ensembl chr 8:113,950,034...114,005,511 		JBrowse link
G PIPOX pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00527 NCBI chr12:45,256,806...45,270,755
Ensembl chr12:45,257,188...45,322,767 		JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO SMPDB SMP:00527 NCBI chr 2:142,943,565...142,947,313
Ensembl chr 2:142,944,078...142,944,980 		JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO SMPDB SMP:00527 NCBI chr17:5,191,973...5,271,849
Ensembl chr17:5,192,022...5,271,849 		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 2:72,704,603...72,767,474
Ensembl chr 2:72,743,643...72,769,570 		JBrowse link
G ACER3 alkaline ceramidase 3 ISO SMPDB SMP:00348 NCBI chr 9:10,985,078...11,167,386
Ensembl chr 9:10,967,857...11,162,502 		JBrowse link
G ARSA arylsulfatase A ISO SMPDB SMP:00348 NCBI chr 5:107,103...110,330
Ensembl chr 5:107,149...111,518 		JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00348 NCBI chr 6:115,525,515...115,593,265
Ensembl chr 6:115,524,636...115,593,270 		JBrowse link
G CERK ceramide kinase ISO SMPDB SMP:00348 NCBI chr 5:2,818,738...2,870,200
Ensembl chr 5:2,818,784...2,870,195 		JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00348 NCBI chr 7:121,058,102...121,131,612
Ensembl chr 7:121,058,105...121,076,328 		JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00348 NCBI chr12:2,612,543...2,619,541
Ensembl chr12:2,612,574...2,619,519 		JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00348 NCBI chr14:47,455,089...47,476,459
Ensembl chr14:47,457,787...47,476,455 		JBrowse link
G GALC galactosylceramidase ISO SMPDB SMP:00348 NCBI chr 7:109,894,576...109,961,407
Ensembl chr 7:109,894,578...109,961,413 		JBrowse link
G GBA1 glucosylceramidase beta 1 ISO SMPDB SMP:00348 NCBI chr 4:94,583,905...94,606,689
Ensembl chr 4:94,584,134...94,609,745 		JBrowse link
G GLA galactosidase alpha ISO SMPDB SMP:00348 NCBI chr  X:83,024,582...83,032,273
Ensembl chr  X:83,023,903...83,032,570 		JBrowse link
G GLB1 galactosidase beta 1 ISO SMPDB SMP:00348 NCBI chr13:18,878,407...18,978,999
Ensembl chr13:18,878,612...18,953,146 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00348 NCBI chr 1:158,288,544...158,329,898
Ensembl chr 1:158,288,544...158,329,881 		JBrowse link
G NEU3 neuraminidase 3 ISO SMPDB SMP:00348 NCBI chr 9:9,315,263...9,333,878
Ensembl chr 9:9,315,334...9,334,918 		JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00348 NCBI chr16:34,604,367...34,741,524
Ensembl chr16:34,600,719...34,744,437 		JBrowse link
G SGMS1 sphingomyelin synthase 1 ISO SMPDB SMP:00348 NCBI chr14:99,147,266...99,458,111
Ensembl chr14:99,147,272...99,185,082 		JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00348 NCBI chr14:73,696,902...73,781,830
Ensembl chr14:73,724,100...73,781,800 		JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00348 NCBI chr15:124,316,309...124,462,855
Ensembl chr15:124,318,955...124,462,851 		JBrowse link
G SPHK2 sphingosine kinase 2 ISO SMPDB SMP:00348 NCBI chr 6:53,982,911...53,986,779
Ensembl chr 6:53,979,012...53,986,768 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00348 NCBI chr14:3,081,964...3,138,113
Ensembl chr14:3,081,972...3,138,103 		JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00348 NCBI chr 7:100,545,360...100,638,973
Ensembl chr 7:100,544,478...100,638,905 		JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00348 NCBI chr 1:252,651,850...252,690,817
Ensembl chr 1:252,651,879...252,688,550 		JBrowse link
G UGT8 UDP glycosyltransferase 8 ISO SMPDB SMP:00348 NCBI chr 8:108,233,134...108,315,284
Ensembl chr 8:108,233,143...108,314,921 		JBrowse link
Leigh disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACACA acetyl-CoA carboxylase alpha ISO SMPDB SMP:00196 NCBI chr12:38,580,916...38,875,067
Ensembl chr12:38,581,457...38,824,712 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00196 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633 		JBrowse link
G ACOT12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00196 NCBI chr 2:89,855,159...89,905,105
Ensembl chr 2:89,855,162...89,905,111 		JBrowse link
G ACSS2 acyl-CoA synthetase short chain family member 2 ISO SMPDB SMP:00196 NCBI chr17:38,260,152...38,315,764
Ensembl chr17:38,260,147...38,315,757 		JBrowse link
G ACYP1 acylphosphatase 1 ISO SMPDB SMP:00196 NCBI chr 7:98,220,318...98,265,187
Ensembl chr 7:98,220,555...98,247,125 		JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00196 NCBI chr18:14,593,516...14,752,316
Ensembl chr18:14,684,036...14,752,310 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00196 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00196 NCBI chr 9:39,738,639...39,763,813
Ensembl chr 9:39,738,564...39,796,806 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00196 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583 		JBrowse link
G GLO1 glyoxalase I ISO SMPDB SMP:00196 NCBI chr 7:34,156,194...34,183,560
Ensembl chr 7:34,157,535...34,183,528 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00196 NCBI chr 1:238,139,764...238,151,631
Ensembl chr 1:238,139,794...238,152,382 		JBrowse link
G HAGH hydroxyacylglutathione hydrolase ISO SMPDB SMP:00196 NCBI chr 3:40,139,099...40,162,921 JBrowse link
G LDHD lactate dehydrogenase D ISO SMPDB SMP:00196 NCBI chr 6:12,548,098...12,552,237
Ensembl chr 6:12,548,132...12,555,648 		JBrowse link
G MDH1 malate dehydrogenase 1 ISO SMPDB SMP:00196 NCBI chr 3:78,247,229...78,263,085
Ensembl chr 3:78,244,999...78,268,600 		JBrowse link
G ME1 malic enzyme 1 ISO SMPDB SMP:00196 NCBI chr 1:82,799,878...82,989,895
Ensembl chr 1:82,799,684...82,991,085 		JBrowse link
G ME2 malic enzyme 2 ISO SMPDB SMP:00196 NCBI chr 1:100,419,404...100,475,778
Ensembl chr 1:100,419,760...100,476,733 		JBrowse link
G PC pyruvate carboxylase ISO SMPDB SMP:00196 NCBI chr 2:5,566,608...5,587,797
Ensembl chr 2:5,518,517...5,587,797 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00196 NCBI chr17:57,930,507...57,936,523
Ensembl chr17:57,930,432...57,936,522 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00196 NCBI chr  X:15,699,924...15,718,908
Ensembl chr  X:15,700,050...15,718,903 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00196 NCBI chr13:40,161,519...40,167,502
Ensembl chr13:40,160,568...40,167,476 		JBrowse link
G PKLR pyruvate kinase L/R ISO SMPDB SMP:00196 NCBI chr 4:94,536,978...94,546,561
Ensembl chr 4:94,537,019...94,546,555 		JBrowse link
Lesch-Nyhan syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO SMPDB SMP:00364 NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245 		JBrowse link
G ADCY10 adenylate cyclase 10 ISO SMPDB SMP:00364 NCBI chr 4:83,103,768...83,205,015
Ensembl chr 4:83,098,290...83,205,454 		JBrowse link
G ADSL adenylosuccinate lyase ISO SMPDB SMP:00364 NCBI chr 5:8,027,799...8,045,480
Ensembl chr 5:8,025,508...8,047,603 		JBrowse link
G ADSS2 adenylosuccinate synthase 2 ISO SMPDB SMP:00364 NCBI chr10:17,220,081...17,259,141
Ensembl chr10:17,220,207...17,259,182 		JBrowse link
G AK1 adenylate kinase 1 ISO SMPDB SMP:00364 NCBI chr 1:268,355,032...268,365,659
Ensembl chr 1:268,355,033...268,365,598 		JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00364 NCBI chr 4:105,868,834...105,892,171
Ensembl chr 4:105,868,897...105,893,769 		JBrowse link
G APRT adenine phosphoribosyltransferase ISO SMPDB SMP:00364 NCBI chr 6:890,272...893,278
Ensembl chr 6:890,831...893,276 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 ISO SMPDB SMP:00364 NCBI chr14:99,802,939...99,885,562
Ensembl chr14:99,815,203...99,885,160 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00364 NCBI chr15:117,617,584...117,649,063
Ensembl chr15:117,617,502...117,649,107 		JBrowse link
G DGUOK deoxyguanosine kinase ISO SMPDB SMP:00364 NCBI chr 3:69,054,749...69,091,366
Ensembl chr 3:69,054,761...69,091,341 		JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO SMPDB SMP:00364 NCBI chr 7:97,270,698...97,316,578
Ensembl chr 7:97,266,824...97,306,981 		JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00364
G GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00364 NCBI chr13:197,130,898...197,158,797
Ensembl chr13:197,130,904...197,161,891 		JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00364 NCBI chr 1:225,425,389...225,589,835
Ensembl chr 1:225,403,138...225,589,827 		JBrowse link
G GMPR guanosine monophosphate reductase ISO SMPDB SMP:00364 NCBI chr 7:12,254,393...12,298,802
Ensembl chr 7:12,254,388...12,299,531 		JBrowse link
G GMPS guanine monophosphate synthase ISO SMPDB SMP:00364 NCBI chr13:95,742,342...95,820,903
Ensembl chr13:95,738,659...95,819,759 		JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00364 NCBI chr 9:62,101,581...62,510,803
Ensembl chr 9:62,101,613...62,499,581 		JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00364 NCBI chr 8:44,544,364...44,604,690
Ensembl chr 8:44,544,179...44,604,687 		JBrowse link
G GUK1 guanylate kinase 1 ISO SMPDB SMP:00364 NCBI chr 2:51,247,665...51,257,481
Ensembl chr 2:51,241,952...51,257,485 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00364 NCBI chr  X:110,321,144...110,357,902
Ensembl chr  X:110,321,204...110,357,894 		JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00364 NCBI chr18:19,979,983...19,996,432
Ensembl chr18:19,979,983...19,996,429 		JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00364 NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,784 		JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00364 NCBI chr13:31,048,367...31,053,285
Ensembl chr13:31,046,948...31,053,130 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00364 NCBI chr14:114,062,451...114,167,460
Ensembl chr14:114,062,459...114,145,109 		JBrowse link
G NUDT2 nudix hydrolase 2 ISO SMPDB SMP:00364 NCBI chr10:32,450,986...32,466,893
Ensembl chr10:32,451,064...32,466,839 		JBrowse link
G NUDT5 nudix hydrolase 5 ISO SMPDB SMP:00364 NCBI chr10:59,765,444...59,787,773
Ensembl chr10:59,765,703...59,790,157 		JBrowse link
G PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00364 NCBI chr 8:55,700,700...55,722,982
Ensembl chr 8:55,700,956...55,722,979 		JBrowse link
G PDE10A phosphodiesterase 10A ISO SMPDB SMP:00364 NCBI chr 1:3,120,418...3,394,236
Ensembl chr 1:2,829,411...3,392,651 		JBrowse link
G PDE4D phosphodiesterase 4D ISO SMPDB SMP:00364 NCBI chr16:37,897,300...39,406,534
Ensembl chr16:37,897,302...39,306,364 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00364 NCBI chr12:53,458,401...53,477,254 JBrowse link
G PNP purine nucleoside phosphorylase ISO SMPDB SMP:00364 NCBI chr 7:78,426,838...78,447,029
Ensembl chr 7:78,424,740...78,447,012 		JBrowse link
G PPAT phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00364 NCBI chr 8:55,652,194...55,701,077
Ensembl chr 8:55,654,377...55,701,077 		JBrowse link
G PRPS1L1 phosphoribosyl pyrophosphate synthetase 1 like 1 ISO SMPDB SMP:00364 NCBI chr 9:87,161,863...87,164,314
Ensembl chr 9:87,163,252...87,164,208 		JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00364 NCBI chr 9:6,026,151...6,065,211
Ensembl chr 9:6,025,073...6,065,143 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00364 NCBI chr 3:126,357,198...126,367,145
Ensembl chr 3:126,347,819...126,365,644 		JBrowse link
G TXN thioredoxin ISO SMPDB SMP:00364 NCBI chr 1:251,264,180...251,278,000
Ensembl chr 1:251,263,175...251,277,988 		JBrowse link
G XDH xanthine dehydrogenase ISO SMPDB SMP:00364 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169 		JBrowse link
maple syrup urine disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00199 NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,970...34,015,474 		JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00199 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,284,140...99,311,321 		JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00199 NCBI chr 9:60,807,405...60,828,379
Ensembl chr 9:60,807,486...60,828,389 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00199 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,381...137,595,108 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00199 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,642,881...40,659,081 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00199 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00199 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00199 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124 		JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00199 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,360,610...97,381,830 		JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00199 NCBI chr15:104,157,748...104,234,533
Ensembl chr15:104,157,527...104,236,006 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00199 NCBI chr14:2,398,456...2,546,329
Ensembl chr14:2,398,462...2,546,342 		JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00199 NCBI chr 5:48,814,212...48,925,632
Ensembl chr 5:48,814,313...48,925,973 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00199 NCBI chr 6:49,381,995...49,398,745
Ensembl chr 6:49,381,967...49,398,743 		JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00199 NCBI chr 1:85,755,819...86,017,661
Ensembl chr 1:85,755,743...86,017,650 		JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00199 NCBI chr 4:117,884,657...117,924,006
Ensembl chr 4:117,875,002...117,936,612 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00199 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00199 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,339,364...141,348,994 		JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00199 NCBI chr18:44,985,410...45,102,171
Ensembl chr18:44,985,425...45,208,347 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00199 NCBI chr15:94,795,744...94,941,362
Ensembl chr15:94,792,985...94,941,266 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00199 NCBI chr 6:81,611,516...81,630,454
Ensembl chr 6:81,611,422...81,630,429 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00199 NCBI chr 4:101,420,941...101,440,302
Ensembl chr 4:101,420,872...101,438,126 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00199 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,548...46,220,883 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00199 NCBI chr 1:130,896,488...130,910,582
Ensembl chr 1:130,893,984...130,910,586 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00199 NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,915,730...121,106,395 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00199 NCBI chr16:47,917,308...47,996,540
Ensembl chr16:47,917,291...47,996,534 		JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00199 NCBI chr 1:143,993,714...144,022,372
Ensembl chr 1:143,993,394...144,024,879 		JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00199 NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,246...43,624,671 		JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00199 NCBI chr16:26,514,497...26,659,739
Ensembl chr16:26,512,401...26,659,808 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00199 NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,286,430 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00199 NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,316,568 		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 2:72,704,603...72,767,474
Ensembl chr 2:72,743,643...72,769,570 		JBrowse link
G ACER3 alkaline ceramidase 3 ISO SMPDB SMP:00347 NCBI chr 9:10,985,078...11,167,386
Ensembl chr 9:10,967,857...11,162,502 		JBrowse link
G ARSA arylsulfatase A ISO SMPDB SMP:00347 NCBI chr 5:107,103...110,330
Ensembl chr 5:107,149...111,518 		JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00347 NCBI chr 6:115,525,515...115,593,265
Ensembl chr 6:115,524,636...115,593,270 		JBrowse link
G CERK ceramide kinase ISO SMPDB SMP:00347 NCBI chr 5:2,818,738...2,870,200
Ensembl chr 5:2,818,784...2,870,195 		JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00347 NCBI chr 7:121,058,102...121,131,612
Ensembl chr 7:121,058,105...121,076,328 		JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00347 NCBI chr12:2,612,543...2,619,541
Ensembl chr12:2,612,574...2,619,519 		JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00347 NCBI chr14:47,455,089...47,476,459
Ensembl chr14:47,457,787...47,476,455 		JBrowse link
G GALC galactosylceramidase ISO SMPDB SMP:00347 NCBI chr 7:109,894,576...109,961,407
Ensembl chr 7:109,894,578...109,961,413 		JBrowse link
G GBA1 glucosylceramidase beta 1 ISO SMPDB SMP:00347 NCBI chr 4:94,583,905...94,606,689
Ensembl chr 4:94,584,134...94,609,745 		JBrowse link
G GLA galactosidase alpha ISO SMPDB SMP:00347 NCBI chr  X:83,024,582...83,032,273
Ensembl chr  X:83,023,903...83,032,570 		JBrowse link
G GLB1 galactosidase beta 1 ISO SMPDB SMP:00347 NCBI chr13:18,878,407...18,978,999
Ensembl chr13:18,878,612...18,953,146 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00347 NCBI chr 1:158,288,544...158,329,898
Ensembl chr 1:158,288,544...158,329,881 		JBrowse link
G NEU3 neuraminidase 3 ISO SMPDB SMP:00347 NCBI chr 9:9,315,263...9,333,878
Ensembl chr 9:9,315,334...9,334,918 		JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00347 NCBI chr16:34,604,367...34,741,524
Ensembl chr16:34,600,719...34,744,437 		JBrowse link
G SGMS1 sphingomyelin synthase 1 ISO SMPDB SMP:00347 NCBI chr14:99,147,266...99,458,111
Ensembl chr14:99,147,272...99,185,082 		JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00347 NCBI chr14:73,696,902...73,781,830
Ensembl chr14:73,724,100...73,781,800 		JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00347 NCBI chr15:124,316,309...124,462,855
Ensembl chr15:124,318,955...124,462,851 		JBrowse link
G SPHK2 sphingosine kinase 2 ISO SMPDB SMP:00347 NCBI chr 6:53,982,911...53,986,779
Ensembl chr 6:53,979,012...53,986,768 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00347 NCBI chr14:3,081,964...3,138,113
Ensembl chr14:3,081,972...3,138,103 		JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00347 NCBI chr 7:100,545,360...100,638,973
Ensembl chr 7:100,544,478...100,638,905 		JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00347 NCBI chr 1:252,651,850...252,690,817
Ensembl chr 1:252,651,879...252,688,550 		JBrowse link
G UGT8 UDP glycosyltransferase 8 ISO SMPDB SMP:00347 NCBI chr 8:108,233,134...108,315,284
Ensembl chr 8:108,233,143...108,314,921 		JBrowse link
mevalonic aciduria 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:00509 SMP:00510 NCBI chr 1:7,600,616...7,612,861
Ensembl chr 1:7,598,735...7,612,866 		JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chr 9:72,057,506...72,079,587
Ensembl chr 9:72,057,511...72,079,444 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00509 SMP:00510 NCBI chr 6:157,483,794...157,519,060
Ensembl chr 6:157,483,783...157,519,061 		JBrowse link
G EBP EBP cholestenol delta-isomerase ISO SMPDB SMP:00509 SMP:00510 NCBI chr  X:42,670,592...42,678,571
Ensembl chr  X:42,670,633...42,678,570 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chr14:14,976,259...15,010,701
Ensembl chr14:14,967,074...15,016,227 		JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00509 SMP:00510 NCBI chr 4:94,500,140...94,514,820
Ensembl chr 4:94,500,141...94,518,408 		JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chr14:55,907,885...55,924,037
Ensembl chr14:55,908,674...55,923,988 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00509 SMP:00510 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,224...84,402,957 		JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chr16:27,936,225...27,957,261
Ensembl chr16:27,936,218...27,957,193 		JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00509 SMP:00510 NCBI chr 4:87,720,747...87,743,037
Ensembl chr 4:87,720,118...87,742,992 		JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00509 SMP:00510 NCBI chr14:101,131,372...101,254,739
Ensembl chr14:101,126,257...101,193,614 		JBrowse link
G LOC100625049 isopentenyl-diphosphate Delta-isomerase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chr10:68,534,520...68,539,279
Ensembl chr10:68,534,796...68,539,280 		JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00509 SMP:00510
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chr 8:43,726,834...43,745,784
Ensembl chr 8:43,726,858...43,744,713 		JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00509 SMP:00510 NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,303 		JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00509 SMP:00510 NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,673...41,357,368 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00509 SMP:00510 NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,199...123,929,117 		JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00509 SMP:00510 NCBI chr 4:94,861,500...94,913,743
Ensembl chr 4:94,861,712...94,874,771 		JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00509 SMP:00510 NCBI chr 9:48,357,115...48,372,391
Ensembl chr 9:48,357,165...48,372,386 		JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00509 SMP:00510 NCBI chr 9:121,045,211...121,112,393
Ensembl chr 9:121,045,234...121,113,692 		JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00509 SMP:00510 NCBI chr 4:14,669,789...14,700,152
Ensembl chr 4:14,669,791...14,700,126 		JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00509 SMP:00510 NCBI chr 2:7,076,778...7,081,502
Ensembl chr 2:7,075,068...7,081,432 		JBrowse link
nonketotic hyperglycinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate aminotransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr15:139,720,648...139,730,737
Ensembl chr15:139,720,612...139,730,736 		JBrowse link
G ALAS1 aminolevulinate, delta-, synthase 1 pseudogene ISO SMPDB SMP:00223 SMP:00485 NCBI chr13:34,333,263...34,347,435
Ensembl chr13:34,333,113...34,347,589 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00223 SMP:00485 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124 		JBrowse link
G AMT aminomethyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr13:31,995,600...32,002,514
Ensembl chr13:31,995,595...32,002,470 		JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:87,911,093...87,935,252
Ensembl chr 2:87,910,603...87,935,252 		JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00223 SMP:00485 NCBI chr13:206,205,942...206,231,363
Ensembl chr13:206,205,946...206,230,248 		JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 6:142,454,922...142,486,352
Ensembl chr 6:142,454,914...142,486,367 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583 		JBrowse link
G DMGDH dimethylglycine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:87,791,827...87,867,189
Ensembl chr 2:87,791,943...87,866,679 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 2:77,076,566...77,079,751
Ensembl chr 2:77,076,566...77,079,759 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162 		JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 1:126,361,968...126,378,705
Ensembl chr 1:126,361,945...126,380,871 		JBrowse link
G GCAT glycine C-acetyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 5:10,027,133...10,038,494
Ensembl chr 5:10,027,044...10,038,433 		JBrowse link
G GLDC glycine decarboxylase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 1:215,608,854...215,715,062
Ensembl chr 1:215,608,849...215,715,059 		JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00223 SMP:00485 NCBI chr13:34,433,403...34,440,037
Ensembl chr13:34,433,399...34,440,264 		JBrowse link
G GNMT glycine N-methyltransferase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 7:38,038,359...38,041,218
Ensembl chr 7:38,038,358...38,041,217 		JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00223 SMP:00485 NCBI chr  X:38,930,452...39,006,220 JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 4:101,445,977...101,478,144
Ensembl chr 4:101,444,693...101,478,144 		JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 1:231,142,673...231,172,364
Ensembl chr 1:231,142,625...231,172,360 		JBrowse link
G PSPH phosphoserine phosphatase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 3:16,877,904...16,903,062
Ensembl chr 3:16,877,923...16,907,952 		JBrowse link
G SARDH sarcosine dehydrogenase ISO SMPDB SMP:00223 SMP:00485 NCBI chr 1:273,230,357...273,295,170
Ensembl chr 1:273,230,375...273,294,621 		JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 4:110,857,067...110,874,712
Ensembl chr 4:110,857,089...110,874,815 		JBrowse link
G SDS serine dehydratase ISO SMPDB SMP:00223 SMP:00485 NCBI chr14:38,503,922...38,513,908
Ensembl chr14:38,503,933...38,513,878 		JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00223 SMP:00485 NCBI chr12:60,414,421...60,435,451
Ensembl chr12:60,416,463...60,435,450 		JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00223 SMP:00485 NCBI chr 5:22,535,780...22,540,322
Ensembl chr 5:22,532,894...22,540,319 		JBrowse link
ornithine translocase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO SMPDB SMP:00506 NCBI chr 6:77,373,999...77,404,015
Ensembl chr 6:77,374,002...77,404,036 		JBrowse link
G ARG1 arginase 1 ISO SMPDB SMP:00506 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,046...32,028,988 		JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00506 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,867 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00506 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,364 		JBrowse link
G CKB creatine kinase B ISO SMPDB SMP:00506
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00506 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,150,157...113,339,078 		JBrowse link
G DAO D-amino acid oxidase ISO SMPDB SMP:00506 NCBI chr14:41,931,549...41,950,628
Ensembl chr14:41,931,541...41,950,633 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00506 NCBI chr10:9,579,301...9,648,416
Ensembl chr10:9,579,304...9,648,414 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00506 NCBI chr 2:77,076,566...77,079,751
Ensembl chr 2:77,076,566...77,079,759 		JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00506 NCBI chr 1:126,361,968...126,378,705
Ensembl chr 1:126,361,945...126,380,871 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00506 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,520 		JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00506 NCBI chr14:110,608,422...110,635,825
Ensembl chr14:110,608,430...110,635,874 		JBrowse link
G LOC110256626 proline dehydrogenase 1, mitochondrial ISO SMPDB SMP:00506 NCBI chr14:51,624,919...51,644,467 JBrowse link
G NOS1 nitric oxide synthase 1 ISO SMPDB SMP:00506 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,944 		JBrowse link
G OAT ornithine aminotransferase ISO SMPDB SMP:00506 NCBI chr14:133,808,193...133,830,517 JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00506 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,821 		JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00506 NCBI chr 9:8,627,365...8,681,804
Ensembl chr 9:8,627,413...8,667,772 		JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00506 NCBI chr10:13,841,755...13,845,900
Ensembl chr10:13,838,085...13,845,894 		JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00506 NCBI chr 1:55,906,508...55,982,094
Ensembl chr 1:55,893,480...55,982,068 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00506 NCBI chr11:15,494,176...15,551,172
Ensembl chr11:15,494,385...15,559,312 		JBrowse link
phenylketonuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00206 NCBI chr 7:49,047,833...49,087,790
Ensembl chr 7:49,047,902...49,087,783 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00206 NCBI chr 2:66,105,393...66,114,867
Ensembl chr 2:66,105,429...66,118,191 		JBrowse link
G FARSB phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00206 NCBI chr15:124,472,236...124,555,042 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00206 NCBI chr14:110,608,422...110,635,825
Ensembl chr14:110,608,430...110,635,874 		JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00206 NCBI chr 7:100,392,217...100,404,025
Ensembl chr 7:100,392,271...100,408,420 		JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00206 NCBI chr13:139,660,315...139,710,402
Ensembl chr13:139,660,343...139,710,404 		JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00206 NCBI chr14:30,845,608...30,857,658
Ensembl chr14:30,845,613...30,857,667 		JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00206 NCBI chr 6:54,906,401...54,945,840
Ensembl chr 6:54,906,406...54,916,081 		JBrowse link
G PAH phenylalanine hydroxylase ISO SMPDB SMP:00206 NCBI chr 5:81,385,401...81,460,569
Ensembl chr 5:81,385,435...81,463,451 		JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00206 NCBI chr 6:14,571,311...14,583,203
Ensembl chr 6:14,570,589...14,583,177 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00206 NCBI chr 6:89,088,122...89,118,837
Ensembl chr 6:89,088,544...89,119,592 		JBrowse link
Refsum disease pathway 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:00451 NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741 		JBrowse link
G ABCD2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00451 NCBI chr 5:71,123,187...71,180,758
Ensembl chr 5:71,122,325...71,180,723 		JBrowse link
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 ISO SMPDB SMP:00451 NCBI chr12:59,936,838...59,953,677
Ensembl chr12:59,936,848...59,954,358 		JBrowse link
G HACL1 2-hydroxyacyl-CoA lyase 1 ISO SMPDB SMP:00451 NCBI chr13:2,786,007...2,840,882
Ensembl chr13:2,766,514...2,840,902 		JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase ISO SMPDB SMP:00451 NCBI chr10:48,404,298...48,423,978
Ensembl chr10:48,404,293...48,423,973 		JBrowse link
G SLC27A2 solute carrier family 27 member 2 ISO SMPDB SMP:00451 NCBI chr 1:121,530,449...121,578,994
Ensembl chr 1:121,526,295...121,579,120 		JBrowse link
saccharopinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AADAT aminoadipate aminotransferase ISO SMPDB SMP:00239 SMP:00528 NCBI chr14:19,768,816...19,792,254
Ensembl chr14:19,768,776...19,792,256 		JBrowse link
G AASS aminoadipate-semialdehyde synthase ISO SMPDB SMP:00239 SMP:00528 NCBI chr18:24,938,366...25,039,197
Ensembl chr18:24,974,754...25,039,195 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633 		JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO SMPDB SMP:00239 SMP:00528 NCBI chr 2:129,663,226...129,709,728
Ensembl chr 2:129,662,969...129,709,705 		JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chr10:59,820,418...59,875,322
Ensembl chr10:59,820,423...59,875,290 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583 		JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00239 SMP:00528 NCBI chr 7:98,091,161...98,111,267
Ensembl chr 7:98,091,124...98,111,572 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,339,364...141,348,994 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868 		JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chr 8:113,952,561...114,005,510
Ensembl chr 8:113,950,034...114,005,511 		JBrowse link
G PIPOX pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00239 SMP:00528 NCBI chr12:45,256,806...45,270,755
Ensembl chr12:45,257,188...45,322,767 		JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO SMPDB SMP:00239 SMP:00528 NCBI chr 2:142,943,565...142,947,313
Ensembl chr 2:142,944,078...142,944,980 		JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO SMPDB SMP:00239 SMP:00528 NCBI chr17:5,191,973...5,271,849
Ensembl chr17:5,192,022...5,271,849 		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 chr 3:39,523,076...39,532,590
Ensembl chr 3:39,522,163...39,532,995 		JBrowse link
G CHIT1 chitinase 1 ISO SMPDB SMP:00240 NCBI chr 9:113,927,715...113,941,445
Ensembl chr 9:113,927,720...113,941,433 		JBrowse link
G CMAS cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00240 NCBI chr 5:51,438,175...51,458,531
Ensembl chr 5:51,438,020...51,458,615 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00240 NCBI chr 3:73,028,750...73,086,191
Ensembl chr 3:73,028,804...73,085,319 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00240 NCBI chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767 		JBrowse link
G GNPDA1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00240 NCBI chr 2:143,604,362...143,616,037
Ensembl chr 2:143,604,362...143,615,990 		JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00240 NCBI chr 1:182,404,460...182,423,453
Ensembl chr 1:182,407,229...182,423,441 		JBrowse link
G HEXA hexosaminidase subunit alpha ISO SMPDB SMP:00240 NCBI chr 7:60,878,531...60,911,537
Ensembl chr 7:60,878,284...60,913,339 		JBrowse link
G HK1 hexokinase 1 ISO SMPDB SMP:00240 NCBI chr14:72,383,328...72,460,927
Ensembl chr14:72,351,246...72,460,924 		JBrowse link
G NAGK N-acetylglucosamine kinase ISO SMPDB SMP:00240 NCBI chr 3:71,496,191...71,513,020
Ensembl chr 3:71,500,337...71,512,955 		JBrowse link
G NANP N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00240 NCBI chr17:31,206,265...31,217,366
Ensembl chr17:31,208,181...31,217,310 		JBrowse link
G NANS N-acetylneuraminate synthase ISO SMPDB SMP:00240 NCBI chr 1:239,881,984...239,912,727
Ensembl chr 1:239,881,876...239,919,251 		JBrowse link
G NPL N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00240 NCBI chr 9:124,093,579...124,132,862
Ensembl chr 9:124,093,604...124,132,860 		JBrowse link
G PGM3 phosphoglucomutase 3 ISO SMPDB SMP:00240 NCBI chr 1:83,003,622...83,029,392
Ensembl chr 1:83,003,604...83,029,897 		JBrowse link
G RENBP renin binding protein ISO SMPDB SMP:00240 NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G SLC17A5 solute carrier family 17 member 5 ISO SMPDB SMP:00240 NCBI chr 1:92,286,821...92,342,788
Ensembl chr 1:92,286,841...92,342,776 		JBrowse link
G UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00240 NCBI chr 4:87,960,056...87,994,032
Ensembl chr 4:87,955,983...87,993,973 		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 chr 3:39,523,076...39,532,590
Ensembl chr 3:39,522,163...39,532,995 		JBrowse link
G CHIT1 chitinase 1 ISO SMPDB SMP:00390 NCBI chr 9:113,927,715...113,941,445
Ensembl chr 9:113,927,720...113,941,433 		JBrowse link
G CMAS cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00390 NCBI chr 5:51,438,175...51,458,531
Ensembl chr 5:51,438,020...51,458,615 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00390 NCBI chr 3:73,028,750...73,086,191
Ensembl chr 3:73,028,804...73,085,319 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00390 NCBI chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767 		JBrowse link
G GNPDA1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00390 NCBI chr 2:143,604,362...143,616,037
Ensembl chr 2:143,604,362...143,615,990 		JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00390 NCBI chr 1:182,404,460...182,423,453
Ensembl chr 1:182,407,229...182,423,441 		JBrowse link
G HEXA hexosaminidase subunit alpha ISO SMPDB SMP:00390 NCBI chr 7:60,878,531...60,911,537
Ensembl chr 7:60,878,284...60,913,339 		JBrowse link
G HK1 hexokinase 1 ISO SMPDB SMP:00390 NCBI chr14:72,383,328...72,460,927
Ensembl chr14:72,351,246...72,460,924 		JBrowse link
G NAGK N-acetylglucosamine kinase ISO SMPDB SMP:00390 NCBI chr 3:71,496,191...71,513,020
Ensembl chr 3:71,500,337...71,512,955 		JBrowse link
G NANP N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00390 NCBI chr17:31,206,265...31,217,366
Ensembl chr17:31,208,181...31,217,310 		JBrowse link
G NANS N-acetylneuraminate synthase ISO SMPDB SMP:00390 NCBI chr 1:239,881,984...239,912,727
Ensembl chr 1:239,881,876...239,919,251 		JBrowse link
G NPL N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00390 NCBI chr 9:124,093,579...124,132,862
Ensembl chr 9:124,093,604...124,132,860 		JBrowse link
G PGM3 phosphoglucomutase 3 ISO SMPDB SMP:00390 NCBI chr 1:83,003,622...83,029,392
Ensembl chr 1:83,003,604...83,029,897 		JBrowse link
G RENBP renin binding protein ISO SMPDB SMP:00390 NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G SLC17A5 solute carrier family 17 member 5 ISO SMPDB SMP:00390 NCBI chr 1:92,286,821...92,342,788
Ensembl chr 1:92,286,841...92,342,776 		JBrowse link
G UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00390 NCBI chr 4:87,960,056...87,994,032
Ensembl chr 4:87,955,983...87,993,973 		JBrowse link
tyrosinemia type I pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00218 NCBI chr12:59,895,476...59,905,900
Ensembl chr12:59,897,496...59,905,897 		JBrowse link
G AOC1 amine oxidase copper containing 1 ISO SMPDB SMP:00218 NCBI chr18:6,309,583...6,321,016
Ensembl chr18:6,309,594...6,320,974 		JBrowse link
G COMT catechol-O-methyltransferase ISO SMPDB SMP:00218 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998 		JBrowse link
G DBH dopamine beta-hydroxylase ISO SMPDB SMP:00218 NCBI chr 1:273,204,407...273,225,562
Ensembl chr 1:273,204,175...273,225,552 		JBrowse link
G DCT dopachrome tautomerase ISO SMPDB SMP:00218 NCBI chr11:63,584,865...63,647,486
Ensembl chr11:63,584,869...63,678,344 		JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00218 NCBI chr 9:136,496,364...136,571,220
Ensembl chr 9:136,496,365...136,571,212 		JBrowse link
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00218 NCBI chr 7:49,047,833...49,087,790
Ensembl chr 7:49,047,902...49,087,783 		JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00218 NCBI chr14:110,608,422...110,635,825
Ensembl chr14:110,608,430...110,635,874 		JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00218 NCBI chr 7:100,392,217...100,404,025
Ensembl chr 7:100,392,271...100,408,420 		JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00218 NCBI chr 3:97,580,756...97,595,033
Ensembl chr 3:97,580,851...97,595,021 		JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00218 NCBI chr13:139,660,315...139,710,402
Ensembl chr13:139,660,343...139,710,404 		JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00218 NCBI chr14:30,845,608...30,857,658
Ensembl chr14:30,845,613...30,857,667 		JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00218 NCBI chr  X:38,930,452...39,006,220 JBrowse link
G MIF macrophage migration inhibitory factor ISO SMPDB SMP:00218 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068 		JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00218 NCBI chr12:22,648,396...22,651,520
Ensembl chr12:22,648,398...22,649,999 		JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00218 NCBI chr 6:14,571,311...14,583,203
Ensembl chr 6:14,570,589...14,583,177 		JBrowse link
G TYR tyrosinase ISO SMPDB SMP:00218 NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290 		JBrowse link
tyrosinemia type II pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00369 NCBI chr 7:49,047,833...49,087,790
Ensembl chr 7:49,047,902...49,087,783 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00369 NCBI chr 2:66,105,393...66,114,867
Ensembl chr 2:66,105,429...66,118,191 		JBrowse link
G FARSB phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00369 NCBI chr15:124,472,236...124,555,042 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00369 NCBI chr14:110,608,422...110,635,825
Ensembl chr14:110,608,430...110,635,874 		JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00369 NCBI chr 7:100,392,217...100,404,025
Ensembl chr 7:100,392,271...100,408,420 		JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00369 NCBI chr13:139,660,315...139,710,402
Ensembl chr13:139,660,343...139,710,404 		JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00369 NCBI chr14:30,845,608...30,857,658
Ensembl chr14:30,845,613...30,857,667 		JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00369 NCBI chr 6:54,906,401...54,945,840
Ensembl chr 6:54,906,406...54,916,081 		JBrowse link
G PAH phenylalanine hydroxylase ISO SMPDB SMP:00369 NCBI chr 5:81,385,401...81,460,569
Ensembl chr 5:81,385,435...81,463,451 		JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00369 NCBI chr 6:14,571,311...14,583,203
Ensembl chr 6:14,570,589...14,583,177 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00369 NCBI chr 6:89,088,122...89,118,837
Ensembl chr 6:89,088,544...89,119,592 		JBrowse link
tyrosinemia type III pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 ISO SMPDB SMP:00434 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ABCC1 ATP binding cassette subfamily C member 1 ISO SMPDB SMP:00434 NCBI chr 3:28,360,868...28,472,940
Ensembl chr 3:28,360,873...28,473,456 		JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 ISO SMPDB SMP:00434 NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,633...111,037,537 		JBrowse link
G ABCG2A ATP binding cassette subfamily G member 2A ISO SMPDB SMP:00434 NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,889,684...130,945,393 		JBrowse link
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00370 NCBI chr 7:49,047,833...49,087,790
Ensembl chr 7:49,047,902...49,087,783 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha ISO SMPDB SMP:00370 NCBI chr 2:66,105,393...66,114,867
Ensembl chr 2:66,105,429...66,118,191 		JBrowse link
G FARSB phenylalanyl-tRNA synthetase subunit beta ISO SMPDB SMP:00370 NCBI chr15:124,472,236...124,555,042 JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00370 NCBI chr14:110,608,422...110,635,825
Ensembl chr14:110,608,430...110,635,874 		JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00370 NCBI chr 7:100,392,217...100,404,025
Ensembl chr 7:100,392,271...100,408,420 		JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00370 NCBI chr13:139,660,315...139,710,402
Ensembl chr13:139,660,343...139,710,404 		JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00370 NCBI chr14:30,845,608...30,857,658
Ensembl chr14:30,845,613...30,857,667 		JBrowse link
G IL4I1 interleukin 4 induced 1 ISO SMPDB SMP:00370 NCBI chr 6:54,906,401...54,945,840
Ensembl chr 6:54,906,406...54,916,081 		JBrowse link
G PAH phenylalanine hydroxylase ISO SMPDB SMP:00370 NCBI chr 5:81,385,401...81,460,569
Ensembl chr 5:81,385,435...81,463,451 		JBrowse link
G SLCO1B2 solute carrier organic anion transporter family member 1B2 ISO SMPDB SMP:00434 NCBI chr 5:52,137,454...52,206,236 JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00370 NCBI chr 6:14,571,311...14,583,203
Ensembl chr 6:14,570,589...14,583,177 		JBrowse link
G TUBA1B tubulin alpha 1b ISO SMPDB SMP:00434 NCBI chr 5:15,150,229...15,153,620
Ensembl chr 5:15,149,099...15,153,620 		JBrowse link
G TUBB1 tubulin beta 1 class VI ISO SMPDB SMP:00434 NCBI chr17:59,161,420...59,168,385
Ensembl chr17:59,161,420...59,168,385 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 ISO SMPDB SMP:00370 NCBI chr 6:89,088,122...89,118,837
Ensembl chr 6:89,088,544...89,119,592 		JBrowse link
Zellweger syndrome 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:00316 NCBI chr13:40,220,952...40,255,967
Ensembl chr13:40,223,010...40,255,967 		JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00316 NCBI chr18:11,416,065...11,532,846
Ensembl chr18:11,416,068...11,531,726 		JBrowse link
G AMACR alpha-methylacyl-CoA racemase ISO SMPDB SMP:00316 NCBI chr16:20,005,741...20,023,339
Ensembl chr16:19,956,366...20,023,289 		JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase ISO SMPDB SMP:00316 NCBI chr 1:243,065,668...243,084,816
Ensembl chr 1:243,065,795...243,084,287 		JBrowse link
G CH25H cholesterol 25-hydroxylase ISO SMPDB SMP:00316 NCBI chr14:101,122,318...101,128,622
Ensembl chr14:101,123,398...101,125,593 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO SMPDB SMP:00316 NCBI chr15:120,809,886...120,852,196
Ensembl chr15:120,809,959...120,852,192 		JBrowse link
G CYP39A1 cytochrome P450 family 39 subfamily A member 1 ISO SMPDB SMP:00316 NCBI chr 7:41,345,011...41,425,854
Ensembl chr 7:41,344,804...41,425,997 		JBrowse link
G CYP46A1 cytochrome P450 family 46 subfamily A member 1 ISO SMPDB SMP:00316 NCBI chr 7:120,658,781...120,695,031
Ensembl chr 7:120,661,111...120,695,016 		JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00316 NCBI chr 4:74,343,101...74,372,628
Ensembl chr 4:74,343,123...74,372,621 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00316 NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,049...69,806,496 		JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00316 NCBI chr13:26,330,233...26,331,738
Ensembl chr13:26,330,233...26,331,738 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00316 NCBI chr 2:123,313,445...123,401,386
Ensembl chr 2:123,313,448...123,402,709 		JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00316 NCBI chr 3:17,459,627...17,463,381
Ensembl chr 3:17,459,630...17,463,386 		JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00316 NCBI chr14:101,131,372...101,254,739
Ensembl chr14:101,126,257...101,193,614 		JBrowse link
G SCP2 sterol carrier protein 2 ISO SMPDB SMP:00316 NCBI chr 6:159,191,045...159,314,985 JBrowse link
G SLC27A5 solute carrier family 27 member 5 ISO SMPDB SMP:00316 NCBI chr 6:63,068,880...63,075,246
Ensembl chr 6:63,065,830...63,075,202 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4047
    disease pathway 712
      nervous system disease pathway 445
        brain disease pathway 346
          Tay-Sachs disease pathway 17
          Zellweger syndrome pathway 16
          beta-ureidopropionase deficiency pathway 23
          glutaric aciduria type I pathway 24
          inborn error of brain metabolic pathway + 317
paths to the root