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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:inborn error of carbohydrate metabolism pathway
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Accession:PW:0001644 term browser browse the term
Definition:Those diseases that are caused by inborn errors of carbohydrate metabolism. The mutations can disrupt one or several pathways.
Synonyms:exact_synonym: inborn error of carbohydrate metabolism disease pathway


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biotinidase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btd biotinidase ISO SMPDB SMP:00174 NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945 		JBrowse link
G Hlcs holocarboxylase synthetase ISO SMPDB SMP:00174 NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222 		JBrowse link
G Spcs1 signal peptidase complex subunit 1 ISO SMPDB SMP:00174 NCBI chr16:6,190,208...6,191,776
Ensembl chr16:6,190,262...6,192,000 		JBrowse link
congenital sucrase-isomaltase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO SMPDB SMP:00557 NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00557 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
G Gck glucokinase ISO SMPDB SMP:00557 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00557 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00557 NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00557 NCBI chr 4:175,365,054...175,406,228
Ensembl chr 4:175,365,054...175,406,228 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00557 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Mgam maltase-glucoamylase ISO SMPDB SMP:00557 NCBI chr 4:69,441,626...69,602,068
Ensembl chr 4:69,446,150...69,692,715 		JBrowse link
G Mgam2 maltase-glucoamylase 2 ISO SMPDB SMP:00557 NCBI chr 4:69,624,024...69,715,782
Ensembl chr 4:69,637,799...69,683,742 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00557 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO SMPDB SMP:00557 NCBI chr 1:154,571,410...154,620,901
Ensembl chr 1:154,571,766...154,620,902 		JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00557 NCBI chr 6:88,697,598...88,740,260
Ensembl chr 6:88,697,593...88,740,310 		JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00557 NCBI chr 2:157,505,893...157,586,228
Ensembl chr 2:157,506,342...157,585,260 		JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00557 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00557 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830 		JBrowse link
D-glycericacidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO SMPDB SMP:00529 NCBI chr20:4,135,955...4,144,880
Ensembl chr20:4,135,957...4,145,278 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00529 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00529 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681 		JBrowse link
G Dgka diacylglycerol kinase, alpha ISO SMPDB SMP:00529 NCBI chr 7:1,148,734...1,175,324
Ensembl chr 7:1,148,735...1,175,110 		JBrowse link
G Gk glycerol kinase ISO SMPDB SMP:00529 NCBI chr  X:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631 		JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00529 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397 		JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00529 NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639 		JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00529 NCBI chr 7:130,842,526...130,851,530
Ensembl chr 7:130,844,138...130,851,529 		JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00529 NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901 		JBrowse link
G Lipc lipase C, hepatic type ISO SMPDB SMP:00529 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00529 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00529 NCBI chr 2:44,439,002...44,500,430
Ensembl chr 2:44,438,994...44,501,268 		JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00529 NCBI chr 7:10,175,918...10,184,032
Ensembl chr 7:10,175,948...10,184,071 		JBrowse link
fructose-1,6-bisphosphatase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00562 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00562 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00562 NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581 		JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00562 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00562 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00562 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00562 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00562 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00562 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00562 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00562 NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00562 NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00562 NCBI chr 1:232,324,718...232,395,445
Ensembl chr 1:232,328,430...232,396,829 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00562 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00562 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00562 NCBI chr 1:240,723,832...240,731,443
Ensembl chr 1:240,723,920...240,738,452 		JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00562 NCBI chr14:80,681,796...80,683,907
Ensembl chr14:80,681,776...80,683,940 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00562 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00562 NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00562 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00562 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00562 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
fructosuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00561 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00561 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00561 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Aldob aldolase, fructose-bisphosphate B ISO SMPDB SMP:00561 NCBI chr 5:63,889,045...63,902,086
Ensembl chr 5:63,889,046...63,902,116 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00561 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G Fcsk fucose kinase ISO SMPDB SMP:00561 NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418 		JBrowse link
G Fpgt fucose-1-phosphate guanylyltransferase ISO SMPDB SMP:00561 NCBI chr 2:244,099,031...244,119,967
Ensembl chr 2:244,099,076...244,119,899 		JBrowse link
G Gfus GDP-L-fucose synthase ISO SMPDB SMP:00561 NCBI chr 7:107,612,087...107,617,005
Ensembl chr 7:107,612,094...107,616,948 		JBrowse link
G Gmds GDP-mannose 4, 6-dehydratase ISO SMPDB SMP:00561 NCBI chr17:32,095,315...32,621,975
Ensembl chr17:32,095,386...32,621,961 		JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO SMPDB SMP:00561 NCBI chr 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286 		JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00561 NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Khk ketohexokinase ISO SMPDB SMP:00561 NCBI chr 6:25,445,298...25,455,834
Ensembl chr 6:25,445,300...25,455,717 		JBrowse link
G Mpi mannose phosphate isomerase ISO SMPDB SMP:00561 NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150 		JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO SMPDB SMP:00561 NCBI chr  X:19,508,522...19,562,165
Ensembl chr  X:19,508,546...19,562,182 		JBrowse link
G Pfkl phosphofructokinase, liver type ISO SMPDB SMP:00561 NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO SMPDB SMP:00561 NCBI chr 3:8,392,926...8,394,325 JBrowse link
G Pmm1 phosphomannomutase 1 ISO SMPDB SMP:00561 NCBI chr 7:113,466,632...113,477,004
Ensembl chr 7:113,466,632...113,477,022 		JBrowse link
G Sord sorbitol dehydrogenase ISO SMPDB SMP:00561 NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00561 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		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 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388 		JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00495 NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00495 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gck glucokinase ISO SMPDB SMP:00495 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00495 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00495 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00495 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830 		JBrowse link
G Uxs1 UDP-glucuronate decarboxylase 1 ISO SMPDB SMP:00495 NCBI chr 9:653,740...731,121
Ensembl chr 9:653,659...756,334 		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 B1 ISO SMPDB SMP:00182 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO SMPDB SMP:00182 NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00182 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Gaa alpha glucosidase ISO SMPDB SMP:00182 NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
G Gale UDP-galactose-4-epimerase ISO SMPDB SMP:00182 NCBI chr 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388 		JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00182 NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00182 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gck glucokinase ISO SMPDB SMP:00182 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00182 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00182 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00182 NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Lct lactase ISO SMPDB SMP:00182 NCBI chr13:39,781,929...39,824,456
Ensembl chr13:39,781,929...39,824,456 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00182 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00182 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830 		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 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388 		JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00496 NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00496 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gck glucokinase ISO SMPDB SMP:00496 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00496 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00496 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00496 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830 		JBrowse link
G Uxs1 UDP-glucuronate decarboxylase 1 ISO SMPDB SMP:00496 NCBI chr 9:653,740...731,121
Ensembl chr 9:653,659...756,334 		JBrowse link
Glut1 deficiency syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galt1 beta-1,4-galactosyltransferase 1 ISO SMPDB SMP:00580 NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461 		JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00580 NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
G Cmpk1 cytidine/uridine monophosphate kinase 1 ISO SMPDB SMP:00580 NCBI chr 5:128,480,301...128,507,830
Ensembl chr 5:128,480,301...128,507,830 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00580 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00580 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Lalba lactalbumin, alpha ISO SMPDB SMP:00580 NCBI chr 7:129,625,531...129,628,034
Ensembl chr 7:129,625,535...129,628,061 		JBrowse link
G Nme2 NME/NM23 nucleoside diphosphate kinase 2 ISO SMPDB SMP:00580 NCBI chr10:78,898,097...78,903,514
Ensembl chr10:78,897,770...78,903,538 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO SMPDB SMP:00580 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00580 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830 		JBrowse link
glycerol kinase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO SMPDB SMP:00187 NCBI chr20:4,135,955...4,144,880
Ensembl chr20:4,135,957...4,145,278 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00187 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00187 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681 		JBrowse link
G Dgka diacylglycerol kinase, alpha ISO SMPDB SMP:00187 NCBI chr 7:1,148,734...1,175,324
Ensembl chr 7:1,148,735...1,175,110 		JBrowse link
G Gk glycerol kinase ISO SMPDB SMP:00187 NCBI chr  X:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631 		JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00187 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397 		JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00187 NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639 		JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00187 NCBI chr 7:130,842,526...130,851,530
Ensembl chr 7:130,844,138...130,851,529 		JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00187 NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901 		JBrowse link
G Lipc lipase C, hepatic type ISO SMPDB SMP:00187 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00187 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00187 NCBI chr 2:44,439,002...44,500,430
Ensembl chr 2:44,438,994...44,501,268 		JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00187 NCBI chr 7:10,175,918...10,184,032
Ensembl chr 7:10,175,948...10,184,071 		JBrowse link
glycogen storage disease type Ia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00374 SMP:00581 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00374 SMP:00581 NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581 		JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00374 SMP:00581 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00374 SMP:00581 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00374 SMP:00581 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 1:232,324,718...232,395,445
Ensembl chr 1:232,328,430...232,396,829 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00374 SMP:00581 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 1:240,723,832...240,731,443
Ensembl chr 1:240,723,920...240,738,452 		JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chr14:80,681,796...80,683,907
Ensembl chr14:80,681,776...80,683,940 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00374 SMP:00581 NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
glycogen storage disease type Ib pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00573 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00573 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00573 NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581 		JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00573 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00573 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00573 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00573 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00573 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00573 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00573 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00573 NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00573 NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00573 NCBI chr 1:232,324,718...232,395,445
Ensembl chr 1:232,328,430...232,396,829 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00573 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00573 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00573 NCBI chr 1:240,723,832...240,731,443
Ensembl chr 1:240,723,920...240,738,452 		JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00573 NCBI chr14:80,681,796...80,683,907
Ensembl chr14:80,681,776...80,683,940 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00573 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00573 NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00573 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00573 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00573 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
glycogen storage disease type III pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO SMPDB SMP:00553 NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00553 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
G Gck glucokinase ISO SMPDB SMP:00553 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00553 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00553 NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00553 NCBI chr 4:175,365,054...175,406,228
Ensembl chr 4:175,365,054...175,406,228 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00553 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Mgam maltase-glucoamylase ISO SMPDB SMP:00553 NCBI chr 4:69,441,626...69,602,068
Ensembl chr 4:69,446,150...69,692,715 		JBrowse link
G Mgam2 maltase-glucoamylase 2 ISO SMPDB SMP:00553 NCBI chr 4:69,624,024...69,715,782
Ensembl chr 4:69,637,799...69,683,742 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00553 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO SMPDB SMP:00553 NCBI chr 1:154,571,410...154,620,901
Ensembl chr 1:154,571,766...154,620,902 		JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00553 NCBI chr 6:88,697,598...88,740,260
Ensembl chr 6:88,697,593...88,740,310 		JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00553 NCBI chr 2:157,505,893...157,586,228
Ensembl chr 2:157,506,342...157,585,260 		JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00553 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00553 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830 		JBrowse link
glycogen storage disease type IV pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO SMPDB SMP:00554 NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00554 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
G Gck glucokinase ISO SMPDB SMP:00554 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00554 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00554 NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00554 NCBI chr 4:175,365,054...175,406,228
Ensembl chr 4:175,365,054...175,406,228 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00554 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Mgam maltase-glucoamylase ISO SMPDB SMP:00554 NCBI chr 4:69,441,626...69,602,068
Ensembl chr 4:69,446,150...69,692,715 		JBrowse link
G Mgam2 maltase-glucoamylase 2 ISO SMPDB SMP:00554 NCBI chr 4:69,624,024...69,715,782
Ensembl chr 4:69,637,799...69,683,742 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00554 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO SMPDB SMP:00554 NCBI chr 1:154,571,410...154,620,901
Ensembl chr 1:154,571,766...154,620,902 		JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00554 NCBI chr 6:88,697,598...88,740,260
Ensembl chr 6:88,697,593...88,740,310 		JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00554 NCBI chr 2:157,505,893...157,586,228
Ensembl chr 2:157,506,342...157,585,260 		JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00554 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00554 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830 		JBrowse link
glycogen storage disease type VI pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO SMPDB SMP:00555 NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00555 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
G Gck glucokinase ISO SMPDB SMP:00555 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00555 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00555 NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00555 NCBI chr 4:175,365,054...175,406,228
Ensembl chr 4:175,365,054...175,406,228 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00555 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Mgam maltase-glucoamylase ISO SMPDB SMP:00555 NCBI chr 4:69,441,626...69,602,068
Ensembl chr 4:69,446,150...69,692,715 		JBrowse link
G Mgam2 maltase-glucoamylase 2 ISO SMPDB SMP:00555 NCBI chr 4:69,624,024...69,715,782
Ensembl chr 4:69,637,799...69,683,742 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00555 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO SMPDB SMP:00555 NCBI chr 1:154,571,410...154,620,901
Ensembl chr 1:154,571,766...154,620,902 		JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00555 NCBI chr 6:88,697,598...88,740,260
Ensembl chr 6:88,697,593...88,740,310 		JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00555 NCBI chr 2:157,505,893...157,586,228
Ensembl chr 2:157,506,342...157,585,260 		JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00555 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00555 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830 		JBrowse link
glycogen storage disease type VII pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00531 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00531 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00531 NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581 		JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00531 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00531 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00531 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00531 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00531 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00531 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00531 NCBI chr 1:232,324,718...232,395,445
Ensembl chr 1:232,328,430...232,396,829 		JBrowse link
G Pfkm phosphofructokinase, muscle ISO SMPDB SMP:00531 NCBI chr 7:129,221,679...129,259,192
Ensembl chr 7:129,221,653...129,259,192 		JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00531 NCBI chr 1:240,723,832...240,731,443
Ensembl chr 1:240,723,920...240,738,452 		JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00531 NCBI chr14:80,681,796...80,683,907
Ensembl chr14:80,681,776...80,683,940 		JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00531 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00531 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00531 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
hereditary fructose intolerance syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00725 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00725 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00725 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Aldob aldolase, fructose-bisphosphate B ISO SMPDB SMP:00725 NCBI chr 5:63,889,045...63,902,086
Ensembl chr 5:63,889,046...63,902,116 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00725 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G Fcsk fucose kinase ISO SMPDB SMP:00725 NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418 		JBrowse link
G Fpgt fucose-1-phosphate guanylyltransferase ISO SMPDB SMP:00725 NCBI chr 2:244,099,031...244,119,967
Ensembl chr 2:244,099,076...244,119,899 		JBrowse link
G Gfus GDP-L-fucose synthase ISO SMPDB SMP:00725 NCBI chr 7:107,612,087...107,617,005
Ensembl chr 7:107,612,094...107,616,948 		JBrowse link
G Gmds GDP-mannose 4, 6-dehydratase ISO SMPDB SMP:00725 NCBI chr17:32,095,315...32,621,975
Ensembl chr17:32,095,386...32,621,961 		JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO SMPDB SMP:00725 NCBI chr 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286 		JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00725 NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Khk ketohexokinase ISO SMPDB SMP:00725 NCBI chr 6:25,445,298...25,455,834
Ensembl chr 6:25,445,300...25,455,717 		JBrowse link
G Mpi mannose phosphate isomerase ISO SMPDB SMP:00725 NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150 		JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO SMPDB SMP:00725 NCBI chr  X:19,508,522...19,562,165
Ensembl chr  X:19,508,546...19,562,182 		JBrowse link
G Pfkl phosphofructokinase, liver type ISO SMPDB SMP:00725 NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO SMPDB SMP:00725 NCBI chr 3:8,392,926...8,394,325 JBrowse link
G Pmm1 phosphomannomutase 1 ISO SMPDB SMP:00725 NCBI chr 7:113,466,632...113,477,004
Ensembl chr 7:113,466,632...113,477,022 		JBrowse link
G Sord sorbitol dehydrogenase ISO SMPDB SMP:00725 NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00725 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
holocarboxylase synthetase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btd biotinidase ISO SMPDB SMP:00564 NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945 		JBrowse link
G Hlcs holocarboxylase synthetase ISO SMPDB SMP:00564 NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222 		JBrowse link
G Spcs1 signal peptidase complex subunit 1 ISO SMPDB SMP:00564 NCBI chr16:6,190,208...6,191,776
Ensembl chr16:6,190,262...6,192,000 		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 chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00196 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00196 NCBI chr 2:22,986,867...23,027,538
Ensembl chr 2:22,986,626...23,027,536 		JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO SMPDB SMP:00196 NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675 		JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00196 NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00196 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00196 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00196 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00196 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Glo1 glyoxalase 1 ISO SMPDB SMP:00196 NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00196 NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO SMPDB SMP:00196 NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504 		JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00196 NCBI chr19:39,583,529...39,588,397
Ensembl chr19:39,573,621...39,595,575 		JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00196 NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925 		JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00196 NCBI chr 8:87,549,043...87,660,251
Ensembl chr 8:87,549,043...87,660,304 		JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00196 NCBI chr18:67,350,833...67,400,987
Ensembl chr18:67,355,795...67,400,987 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00196 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00196 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00196 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00196 NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500 		JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00196 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
phosphoenolpyruvate carboxykinase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00560 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00560 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00560 NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581 		JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00560 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00560 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00560 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00560 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00560 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00560 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00560 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00560 NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00560 NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00560 NCBI chr 1:232,324,718...232,395,445
Ensembl chr 1:232,328,430...232,396,829 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00560 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00560 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00560 NCBI chr 1:240,723,832...240,731,443
Ensembl chr 1:240,723,920...240,738,452 		JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00560 NCBI chr14:80,681,796...80,683,907
Ensembl chr14:80,681,776...80,683,940 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00560 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00560 NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00560 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00560 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00560 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
primary hyperoxaluria type 1 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO SMPDB SMP:00352 NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147 		JBrowse link
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00352 NCBI chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090 		JBrowse link
G Agxt alanine--glyoxylate aminotransferase ISO SMPDB SMP:00352 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00352 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00352 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
primary hyperoxaluria type 2 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:00558 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00558 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00558 NCBI chr 2:22,986,867...23,027,538
Ensembl chr 2:22,986,626...23,027,536 		JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO SMPDB SMP:00558 NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675 		JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00558 NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00558 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00558 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00558 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00558 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Glo1 glyoxalase 1 ISO SMPDB SMP:00558 NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00558 NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO SMPDB SMP:00558 NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504 		JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00558 NCBI chr19:39,583,529...39,588,397
Ensembl chr19:39,573,621...39,595,575 		JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00558 NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925 		JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00558 NCBI chr 8:87,549,043...87,660,251
Ensembl chr 8:87,549,043...87,660,304 		JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00558 NCBI chr18:67,350,833...67,400,987
Ensembl chr18:67,355,795...67,400,987 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00558 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00558 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00558 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00558 NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500 		JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00558 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
pyruvate carboxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO SMPDB SMP:00350 NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147 		JBrowse link
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00350 NCBI chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090 		JBrowse link
G Agxt alanine--glyoxylate aminotransferase ISO SMPDB SMP:00350 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00350 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00350 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
pyruvate decarboxylase deficiency 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:00212 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00212 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00212 NCBI chr 2:22,986,867...23,027,538
Ensembl chr 2:22,986,626...23,027,536 		JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO SMPDB SMP:00212 NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675 		JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00212 NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00212 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00212 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00212 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00212 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Glo1 glyoxalase 1 ISO SMPDB SMP:00212 NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00212 NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO SMPDB SMP:00212 NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504 		JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00212 NCBI chr19:39,583,529...39,588,397
Ensembl chr19:39,573,621...39,595,575 		JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00212 NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925 		JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00212 NCBI chr 8:87,549,043...87,660,251
Ensembl chr 8:87,549,043...87,660,304 		JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00212 NCBI chr18:67,350,833...67,400,987
Ensembl chr18:67,355,795...67,400,987 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00212 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00212 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00212 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00212 NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500 		JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00212 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
pyruvate dehydrogenase E1 deficiency 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:00334 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00334 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00334 NCBI chr 2:22,986,867...23,027,538
Ensembl chr 2:22,986,626...23,027,536 		JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO SMPDB SMP:00334 NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675 		JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00334 NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00334 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00334 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00334 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00334 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Glo1 glyoxalase 1 ISO SMPDB SMP:00334 NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00334 NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO SMPDB SMP:00334 NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504 		JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00334 NCBI chr19:39,583,529...39,588,397
Ensembl chr19:39,573,621...39,595,575 		JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00334 NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925 		JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00334 NCBI chr 8:87,549,043...87,660,251
Ensembl chr 8:87,549,043...87,660,304 		JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00334 NCBI chr18:67,350,833...67,400,987
Ensembl chr18:67,355,795...67,400,987 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00334 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00334 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00334 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00334 NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500 		JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00334 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
pyruvate dehydrogenase E2 deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO SMPDB SMP:00551 NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261 		JBrowse link
G Cs citrate synthase ISO SMPDB SMP:00551 NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00551 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00551 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00551 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296 		JBrowse link
G Fh fumarate hydratase ISO SMPDB SMP:00551 NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO SMPDB SMP:00551 NCBI chr 8:54,971,694...54,991,085
Ensembl chr 8:54,971,740...54,991,084 		JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO SMPDB SMP:00551 NCBI chr 3:117,481,845...117,486,909
Ensembl chr 3:117,481,845...117,486,982 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO SMPDB SMP:00551 NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00551 NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00551 NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
G Ogdh oxoglutarate dehydrogenase ISO SMPDB SMP:00551 NCBI chr14:81,150,021...81,217,479
Ensembl chr14:81,150,091...81,217,479 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00551 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00551 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00551 NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO SMPDB SMP:00551 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO SMPDB SMP:00551 NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO SMPDB SMP:00551 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO SMPDB SMP:00551 NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238 		JBrowse link
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO SMPDB SMP:00551 NCBI chr 4:105,308,236...105,337,595
Ensembl chr 4:105,308,039...105,337,600 		JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO SMPDB SMP:00551 NCBI chr 4:128,067,031...128,337,146
Ensembl chr 4:128,067,033...128,337,170 		JBrowse link
pyruvate dehydrogenase E3 deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO SMPDB SMP:00550 NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261 		JBrowse link
G Cs citrate synthase ISO SMPDB SMP:00550 NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00550 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00550 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00550 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296 		JBrowse link
G Fh fumarate hydratase ISO SMPDB SMP:00550 NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO SMPDB SMP:00550 NCBI chr 8:54,971,694...54,991,085
Ensembl chr 8:54,971,740...54,991,084 		JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO SMPDB SMP:00550 NCBI chr 3:117,481,845...117,486,909
Ensembl chr 3:117,481,845...117,486,982 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO SMPDB SMP:00550 NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00550 NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00550 NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
G Ogdh oxoglutarate dehydrogenase ISO SMPDB SMP:00550 NCBI chr14:81,150,021...81,217,479
Ensembl chr14:81,150,091...81,217,479 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00550 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00550 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00550 NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO SMPDB SMP:00550 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO SMPDB SMP:00550 NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO SMPDB SMP:00550 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO SMPDB SMP:00550 NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238 		JBrowse link
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO SMPDB SMP:00550 NCBI chr 4:105,308,236...105,337,595
Ensembl chr 4:105,308,039...105,337,600 		JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO SMPDB SMP:00550 NCBI chr 4:128,067,031...128,337,146
Ensembl chr 4:128,067,033...128,337,170 		JBrowse link
pyruvate kinase deficiency of red cells 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:00559 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00559 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00559 NCBI chr 2:22,986,867...23,027,538
Ensembl chr 2:22,986,626...23,027,536 		JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO SMPDB SMP:00559 NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675 		JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00559 NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00559 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00559 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00559 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00559 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Glo1 glyoxalase 1 ISO SMPDB SMP:00559 NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00559 NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO SMPDB SMP:00559 NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504 		JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00559 NCBI chr19:39,583,529...39,588,397
Ensembl chr19:39,573,621...39,595,575 		JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00559 NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925 		JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00559 NCBI chr 8:87,549,043...87,660,251
Ensembl chr 8:87,549,043...87,660,304 		JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00559 NCBI chr18:67,350,833...67,400,987
Ensembl chr18:67,355,795...67,400,987 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00559 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00559 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00559 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00559 NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500 		JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00559 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
ribose 5-phosphate isomerase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00519 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00519 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Dera deoxyribose-phosphate aldolase ISO SMPDB SMP:00519 NCBI chr 4:170,663,689...170,742,469
Ensembl chr 4:170,663,665...170,758,865 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00519 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO SMPDB SMP:00519 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00519 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Pfkl phosphofructokinase, liver type ISO SMPDB SMP:00519 NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315 		JBrowse link
G Pgd phosphogluconate dehydrogenase ISO SMPDB SMP:00519 NCBI chr 5:159,582,746...159,598,945
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Pgls 6-phosphogluconolactonase ISO SMPDB SMP:00519 NCBI chr16:18,300,317...18,305,803
Ensembl chr16:18,300,317...18,305,803 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00519 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00519 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291 		JBrowse link
G Rbks ribokinase ISO SMPDB SMP:00519 NCBI chr 6:24,747,651...24,824,290
Ensembl chr 6:24,747,293...24,824,290 		JBrowse link
G Rpe ribulose-5-phosphate-3-epimerase ISO SMPDB SMP:00519 NCBI chr 9:68,191,027...68,211,295
Ensembl chr 9:68,191,292...68,211,591 		JBrowse link
G Rpia ribose 5-phosphate isomerase A ISO SMPDB SMP:00519 NCBI chr 4:102,723,712...102,749,374
Ensembl chr 4:102,723,712...102,749,355 		JBrowse link
G Taldo1 transaldolase 1 ISO SMPDB SMP:00519 NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974 		JBrowse link
G Tkt transketolase ISO SMPDB SMP:00519 NCBI chr16:5,723,764...5,748,702
Ensembl chr16:5,723,762...5,748,698 		JBrowse link
transaldolase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00520 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00520 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Dera deoxyribose-phosphate aldolase ISO SMPDB SMP:00520 NCBI chr 4:170,663,689...170,742,469
Ensembl chr 4:170,663,665...170,758,865 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00520 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO SMPDB SMP:00520 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00520 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Pfkl phosphofructokinase, liver type ISO SMPDB SMP:00520 NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315 		JBrowse link
G Pgd phosphogluconate dehydrogenase ISO SMPDB SMP:00520 NCBI chr 5:159,582,746...159,598,945
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Pgls 6-phosphogluconolactonase ISO SMPDB SMP:00520 NCBI chr16:18,300,317...18,305,803
Ensembl chr16:18,300,317...18,305,803 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00520 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00520 NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291 		JBrowse link
G Rbks ribokinase ISO SMPDB SMP:00520 NCBI chr 6:24,747,651...24,824,290
Ensembl chr 6:24,747,293...24,824,290 		JBrowse link
G Rpe ribulose-5-phosphate-3-epimerase ISO SMPDB SMP:00520 NCBI chr 9:68,191,027...68,211,295
Ensembl chr 9:68,191,292...68,211,591 		JBrowse link
G Rpia ribose 5-phosphate isomerase A ISO SMPDB SMP:00520 NCBI chr 4:102,723,712...102,749,374
Ensembl chr 4:102,723,712...102,749,355 		JBrowse link
G Taldo1 transaldolase 1 ISO SMPDB SMP:00520 NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974 		JBrowse link
G Tkt transketolase ISO SMPDB SMP:00520 NCBI chr16:5,723,764...5,748,702
Ensembl chr16:5,723,762...5,748,698 		JBrowse link
triosephosphate isomerase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00563 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00563 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00563 NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581 		JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00563 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00563 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00563 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00563 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00563 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00563 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00563 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00563 NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00563 NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00563 NCBI chr 1:232,324,718...232,395,445
Ensembl chr 1:232,328,430...232,396,829 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00563 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00563 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00563 NCBI chr 1:240,723,832...240,731,443
Ensembl chr 1:240,723,920...240,738,452 		JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00563 NCBI chr14:80,681,796...80,683,907
Ensembl chr14:80,681,776...80,683,940 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00563 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00563 NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00563 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00563 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00563 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6091
    disease pathway 1954
      congenital disease pathway 530
        inborn genetic disease pathway 530
          inborn error of metabolism pathway 530
            inborn error of carbohydrate metabolism pathway 125
              D-glycericacidemia pathway 13
              Glut1 deficiency syndrome pathway 9
              congenital sucrase-isomaltase deficiency pathway 15
              galactosemias pathway + 16
              glycerol kinase deficiency pathway 13
              glycogen storage disease pathway + 36
              inborn error of fructose metabolism pathway + 37
              inborn error of pyruvate metabolism pathway + 41
              mucopolysaccharidoses pathway 0
              multiple carboxylase deficiency pathway + 3
              phosphoenolpyruvate carboxykinase deficiency pathway 22
              primary hyperoxaluria pathway + 25
              ribose 5-phosphate isomerase deficiency pathway 16
              transaldolase deficiency pathway 16
              triosephosphate isomerase deficiency pathway 22
paths to the root