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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 chr16:7,758,192...7,791,301
Ensembl chr16:7,758,996...7,791,243
JBrowse link
G Hlcs holocarboxylase synthetase ISO SMPDB SMP:00174 NCBI chr11:34,357,372...34,537,798
Ensembl chr11:34,352,287...34,526,931
JBrowse link
G Spcs1 signal peptidase complex subunit 1 ISO SMPDB SMP:00174 NCBI chr16:7,080,389...7,081,957
Ensembl chr16:7,080,454...7,082,193
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 2:219,788,234...219,843,189
Ensembl chr 2:219,788,234...219,842,986
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00557 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00557 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00557 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00557 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00557 NCBI chr 4:176,638,632...176,679,805
Ensembl chr 4:176,638,629...176,679,815
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00557 NCBI chr 4:113,559,396...113,609,897
Ensembl chr 4:113,559,427...113,610,243
JBrowse link
G Mgam maltase-glucoamylase ISO SMPDB SMP:00557 NCBI chr 4:69,018,592...69,114,027
Ensembl chr 4:68,849,033...68,996,961
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00557 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO SMPDB SMP:00557 NCBI chr 1:165,237,847...165,286,980
Ensembl chr 1:165,237,847...165,286,980
JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00557 NCBI chr 6:92,597,759...92,643,734
Ensembl chr 6:92,597,706...92,643,847
JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00557 NCBI chr 2:170,220,794...170,301,348
Ensembl chr 2:170,221,245...170,301,348
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00557 NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00557 NCBI chr14:106,208,174...106,249,322
Ensembl chr14:106,208,176...106,248,539
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 chr20:4,369,399...4,378,272
Ensembl chr20:4,369,178...4,378,269
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00529 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00529 NCBI chr10:47,490,168...47,499,855
Ensembl chr10:47,490,153...47,499,876
JBrowse link
G Dgka diacylglycerol kinase, alpha ISO SMPDB SMP:00529 NCBI chr 7:3,143,826...3,170,764
Ensembl chr 7:3,143,827...3,170,146
JBrowse link
G Gk glycerol kinase ISO SMPDB SMP:00529 NCBI chr  X:54,227,291...54,303,897
Ensembl chr  X:54,227,397...54,303,864
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00529 NCBI chr 8:114,846,210...114,853,374
Ensembl chr 8:114,848,084...114,853,103
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00529 NCBI chr 1:275,843,823...275,906,880
Ensembl chr 1:275,846,819...275,906,686
JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00529 NCBI chr 7:141,368,928...141,377,931
Ensembl chr 7:141,370,491...141,377,928
JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00529 NCBI chr 3:43,223,892...43,359,069
Ensembl chr 3:43,255,567...43,359,074
JBrowse link
G Lipc lipase C, hepatic type ISO SMPDB SMP:00529 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00529 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00529 NCBI chr 2:44,664,076...44,726,820
Ensembl chr 2:44,664,124...44,726,689
JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00529 NCBI chr 7:13,062,168...13,070,281
Ensembl chr 7:13,062,196...13,070,280
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 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00562 NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00562 NCBI chr 4:61,912,210...61,940,697
Ensembl chr 4:61,912,210...61,940,696
JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00562 NCBI chr 5:167,288,223...167,299,610
Ensembl chr 5:167,288,223...167,299,609
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00562 NCBI chr17:396,175...417,480
Ensembl chr17:396,180...417,480
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00562 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00562 NCBI chr 6:2,808,988...2,860,742
Ensembl chr 6:2,808,841...2,860,744
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00562 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00562 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00562 NCBI chr 4:113,559,396...113,609,897
Ensembl chr 4:113,559,427...113,610,243
JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00562 NCBI chr12:23,941,451...23,954,406
Ensembl chr12:23,941,448...23,954,431
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00562 NCBI chr 1:53,026,608...53,038,229
Ensembl chr 1:53,026,608...53,038,229
JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00562 NCBI chr 1:253,115,400...253,189,643
Ensembl chr 1:253,119,112...253,185,533
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00562 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00562 NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00562 NCBI chr 1:261,158,204...261,165,814
Ensembl chr 1:261,158,261...261,165,808
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00562 NCBI chr14:86,045,005...86,047,116
Ensembl chr14:86,044,969...86,047,162
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00562 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00562 NCBI chr10:57,265,903...57,268,018
Ensembl chr10:57,265,704...57,268,081
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00562 NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00562 NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00562 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
Ensembl chr 9:157,328,379...157,331,905
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 B ISO SMPDB SMP:00561 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00561 NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00561 NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
JBrowse link
G Aldob aldolase, fructose-bisphosphate B ISO SMPDB SMP:00561 NCBI chr 5:64,805,772...64,818,813
Ensembl chr 5:64,805,773...64,818,824
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00561 NCBI chr17:396,175...417,480
Ensembl chr17:396,180...417,480
JBrowse link
G Fcsk fucose kinase ISO SMPDB SMP:00561 NCBI chr19:43,338,146...43,357,826
Ensembl chr19:43,338,166...43,357,822
JBrowse link
G Fpgt fucose-1-phosphate guanylyltransferase ISO SMPDB SMP:00561 NCBI chr 2:261,382,015...261,402,950
Ensembl chr 2:261,382,060...261,402,903
JBrowse link
G Gfus GDP-L-fucose synthase ISO SMPDB SMP:00561 NCBI chr 7:116,958,427...116,963,281
Ensembl chr 7:116,958,392...116,963,295
JBrowse link
G Gmds GDP-mannose 4, 6-dehydratase ISO SMPDB SMP:00561 NCBI chr17:33,408,722...33,938,086
Ensembl chr17:33,408,722...33,938,085
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO SMPDB SMP:00561 NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00561 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Khk ketohexokinase ISO SMPDB SMP:00561 NCBI chr 6:26,810,577...26,821,013
Ensembl chr 6:26,810,579...26,820,959
JBrowse link
G Mpi mannose phosphate isomerase ISO SMPDB SMP:00561 NCBI chr 8:62,324,176...62,332,080
Ensembl chr 8:62,324,092...62,332,115
JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO SMPDB SMP:00561 NCBI chr  X:23,092,143...23,145,923
Ensembl chr  X:23,092,159...23,144,324
JBrowse link
G Pfkl phosphofructokinase, liver type ISO SMPDB SMP:00561 NCBI chr20:11,393,860...11,415,889
Ensembl chr20:11,393,877...11,415,882
JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO SMPDB SMP:00561 NCBI chr 3:2,797,037...2,798,436
Ensembl chr 3:2,796,997...2,798,470
JBrowse link
G Pmm1 phosphomannomutase 1 ISO SMPDB SMP:00561 NCBI chr 7:123,183,504...123,193,874
Ensembl chr 7:123,183,506...123,193,761
JBrowse link
G Sord sorbitol dehydrogenase ISO SMPDB SMP:00561 NCBI chr 3:114,176,127...114,207,368
Ensembl chr 3:114,176,309...114,207,366
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00561 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
Ensembl chr 9:157,328,379...157,331,905
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 5:154,310,453...154,314,959
Ensembl chr 5:154,310,453...154,314,955
JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00495 NCBI chr10:104,560,322...104,564,499
Ensembl chr10:104,560,303...104,564,480
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00495 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00495 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00495 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00495 NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00495 NCBI chr14:106,208,174...106,249,322
Ensembl chr14:106,208,176...106,248,539
JBrowse link
G Uxs1 UDP-glucuronate decarboxylase 1 ISO SMPDB SMP:00495 NCBI chr 9:11,165,006...11,240,329
Ensembl chr 9:11,164,715...11,339,790
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 chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO SMPDB SMP:00182 NCBI chr 5:57,121,768...57,168,610
Ensembl chr 5:57,121,769...57,168,610
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00182 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Gaa alpha glucosidase ISO SMPDB SMP:00182 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
JBrowse link
G Gale UDP-galactose-4-epimerase ISO SMPDB SMP:00182 NCBI chr 5:154,310,453...154,314,959
Ensembl chr 5:154,310,453...154,314,955
JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00182 NCBI chr10:104,560,322...104,564,499
Ensembl chr10:104,560,303...104,564,480
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00182 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00182 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00182 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00182 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00182 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Lct lactase ISO SMPDB SMP:00182 NCBI chr13:44,998,414...45,040,593
Ensembl chr13:44,998,414...45,040,593
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00182 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00182 NCBI chr14:106,208,174...106,249,322
Ensembl chr14:106,208,176...106,248,539
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 5:154,310,453...154,314,959
Ensembl chr 5:154,310,453...154,314,955
JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00496 NCBI chr10:104,560,322...104,564,499
Ensembl chr10:104,560,303...104,564,480
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00496 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00496 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00496 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00496 NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00496 NCBI chr14:106,208,174...106,249,322
Ensembl chr14:106,208,176...106,248,539
JBrowse link
G Uxs1 UDP-glucuronate decarboxylase 1 ISO SMPDB SMP:00496 NCBI chr 9:11,165,006...11,240,329
Ensembl chr 9:11,164,715...11,339,790
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 5:57,121,768...57,168,610
Ensembl chr 5:57,121,769...57,168,610
JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00580 NCBI chr10:107,432,500...107,445,634
Ensembl chr10:107,432,506...107,445,522
JBrowse link
G Cmpk1 cytidine/uridine monophosphate kinase 1 ISO SMPDB SMP:00580 NCBI chr 5:133,759,722...133,786,452
Ensembl chr 5:133,759,735...133,786,452
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00580 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00580 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929
JBrowse link
G Lalba lactalbumin, alpha ISO SMPDB SMP:00580 NCBI chr 7:140,088,420...140,096,347
Ensembl chr 7:140,088,421...140,090,922
JBrowse link
G Nme2 NME/NM23 nucleoside diphosphate kinase 2 ISO SMPDB SMP:00580 NCBI chr10:81,648,216...81,653,717
Ensembl chr10:81,648,216...81,653,717
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO SMPDB SMP:00580 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00580 NCBI chr14:106,208,174...106,249,322
Ensembl chr14:106,208,176...106,248,539
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 chr20:4,369,399...4,378,272
Ensembl chr20:4,369,178...4,378,269
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00187 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00187 NCBI chr10:47,490,168...47,499,855
Ensembl chr10:47,490,153...47,499,876
JBrowse link
G Dgka diacylglycerol kinase, alpha ISO SMPDB SMP:00187 NCBI chr 7:3,143,826...3,170,764
Ensembl chr 7:3,143,827...3,170,146
JBrowse link
G Gk glycerol kinase ISO SMPDB SMP:00187 NCBI chr  X:54,227,291...54,303,897
Ensembl chr  X:54,227,397...54,303,864
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00187 NCBI chr 8:114,846,210...114,853,374
Ensembl chr 8:114,848,084...114,853,103
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00187 NCBI chr 1:275,843,823...275,906,880
Ensembl chr 1:275,846,819...275,906,686
JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00187 NCBI chr 7:141,368,928...141,377,931
Ensembl chr 7:141,370,491...141,377,928
JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00187 NCBI chr 3:43,223,892...43,359,069
Ensembl chr 3:43,255,567...43,359,074
JBrowse link
G Lipc lipase C, hepatic type ISO SMPDB SMP:00187 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00187 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00187 NCBI chr 2:44,664,076...44,726,820
Ensembl chr 2:44,664,124...44,726,689
JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00187 NCBI chr 7:13,062,168...13,070,281
Ensembl chr 7:13,062,196...13,070,280
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 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00374 SMP:00581 NCBI chr 4:61,912,210...61,940,697
Ensembl chr 4:61,912,210...61,940,696
JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 5:167,288,223...167,299,610
Ensembl chr 5:167,288,223...167,299,609
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr17:396,175...417,480
Ensembl chr17:396,180...417,480
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00374 SMP:00581 NCBI chr 6:2,808,988...2,860,742
Ensembl chr 6:2,808,841...2,860,744
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00374 SMP:00581 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00374 SMP:00581 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 4:113,559,396...113,609,897
Ensembl chr 4:113,559,427...113,610,243
JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chr12:23,941,451...23,954,406
Ensembl chr12:23,941,448...23,954,431
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 1:53,026,608...53,038,229
Ensembl chr 1:53,026,608...53,038,229
JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 1:253,115,400...253,189,643
Ensembl chr 1:253,119,112...253,185,533
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00374 SMP:00581 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 1:261,158,204...261,165,814
Ensembl chr 1:261,158,261...261,165,808
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chr14:86,045,005...86,047,116
Ensembl chr14:86,044,969...86,047,162
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00374 SMP:00581 NCBI chr10:57,265,903...57,268,018
Ensembl chr10:57,265,704...57,268,081
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00374 SMP:00581 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
Ensembl chr 9:157,328,379...157,331,905
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 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00573 NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00573 NCBI chr 4:61,912,210...61,940,697
Ensembl chr 4:61,912,210...61,940,696
JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00573 NCBI chr 5:167,288,223...167,299,610
Ensembl chr 5:167,288,223...167,299,609
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00573 NCBI chr17:396,175...417,480
Ensembl chr17:396,180...417,480
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00573 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00573 NCBI chr 6:2,808,988...2,860,742
Ensembl chr 6:2,808,841...2,860,744
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00573 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00573 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00573 NCBI chr 4:113,559,396...113,609,897
Ensembl chr 4:113,559,427...113,610,243
JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00573 NCBI chr12:23,941,451...23,954,406
Ensembl chr12:23,941,448...23,954,431
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00573 NCBI chr 1:53,026,608...53,038,229
Ensembl chr 1:53,026,608...53,038,229
JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00573 NCBI chr 1:253,115,400...253,189,643
Ensembl chr 1:253,119,112...253,185,533
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00573 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00573 NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00573 NCBI chr 1:261,158,204...261,165,814
Ensembl chr 1:261,158,261...261,165,808
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00573 NCBI chr14:86,045,005...86,047,116
Ensembl chr14:86,044,969...86,047,162
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00573 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00573 NCBI chr10:57,265,903...57,268,018
Ensembl chr10:57,265,704...57,268,081
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00573 NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00573 NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00573 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
Ensembl chr 9:157,328,379...157,331,905
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 2:219,788,234...219,843,189
Ensembl chr 2:219,788,234...219,842,986
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00553 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00553 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00553 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00553 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00553 NCBI chr 4:176,638,632...176,679,805
Ensembl chr 4:176,638,629...176,679,815
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00553 NCBI chr 4:113,559,396...113,609,897
Ensembl chr 4:113,559,427...113,610,243
JBrowse link
G Mgam maltase-glucoamylase ISO SMPDB SMP:00553 NCBI chr 4:69,018,592...69,114,027
Ensembl chr 4:68,849,033...68,996,961
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00553 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO SMPDB SMP:00553 NCBI chr 1:165,237,847...165,286,980
Ensembl chr 1:165,237,847...165,286,980
JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00553 NCBI chr 6:92,597,759...92,643,734
Ensembl chr 6:92,597,706...92,643,847
JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00553 NCBI chr 2:170,220,794...170,301,348
Ensembl chr 2:170,221,245...170,301,348
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00553 NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00553 NCBI chr14:106,208,174...106,249,322
Ensembl chr14:106,208,176...106,248,539
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 2:219,788,234...219,843,189
Ensembl chr 2:219,788,234...219,842,986
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00554 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00554 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00554 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00554 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00554 NCBI chr 4:176,638,632...176,679,805
Ensembl chr 4:176,638,629...176,679,815
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00554 NCBI chr 4:113,559,396...113,609,897
Ensembl chr 4:113,559,427...113,610,243
JBrowse link
G Mgam maltase-glucoamylase ISO SMPDB SMP:00554 NCBI chr 4:69,018,592...69,114,027
Ensembl chr 4:68,849,033...68,996,961
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00554 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO SMPDB SMP:00554 NCBI chr 1:165,237,847...165,286,980
Ensembl chr 1:165,237,847...165,286,980
JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00554 NCBI chr 6:92,597,759...92,643,734
Ensembl chr 6:92,597,706...92,643,847
JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00554 NCBI chr 2:170,220,794...170,301,348
Ensembl chr 2:170,221,245...170,301,348
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00554 NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00554 NCBI chr14:106,208,174...106,249,322
Ensembl chr14:106,208,176...106,248,539
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 2:219,788,234...219,843,189
Ensembl chr 2:219,788,234...219,842,986
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00555 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00555 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00555 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00555 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00555 NCBI chr 4:176,638,632...176,679,805
Ensembl chr 4:176,638,629...176,679,815
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00555 NCBI chr 4:113,559,396...113,609,897
Ensembl chr 4:113,559,427...113,610,243
JBrowse link
G Mgam maltase-glucoamylase ISO SMPDB SMP:00555 NCBI chr 4:69,018,592...69,114,027
Ensembl chr 4:68,849,033...68,996,961
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00555 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO SMPDB SMP:00555 NCBI chr 1:165,237,847...165,286,980
Ensembl chr 1:165,237,847...165,286,980
JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00555 NCBI chr 6:92,597,759...92,643,734
Ensembl chr 6:92,597,706...92,643,847
JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00555 NCBI chr 2:170,220,794...170,301,348
Ensembl chr 2:170,221,245...170,301,348
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00555 NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00555 NCBI chr14:106,208,174...106,249,322
Ensembl chr14:106,208,176...106,248,539
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 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00531 NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00531 NCBI chr 4:61,912,210...61,940,697
Ensembl chr 4:61,912,210...61,940,696
JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00531 NCBI chr 5:167,288,223...167,299,610
Ensembl chr 5:167,288,223...167,299,609
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00531 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00531 NCBI chr 6:2,808,988...2,860,742
Ensembl chr 6:2,808,841...2,860,744
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00531 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00531 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00531 NCBI chr 4:113,559,396...113,609,897
Ensembl chr 4:113,559,427...113,610,243
JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00531 NCBI chr 1:253,115,400...253,189,643
Ensembl chr 1:253,119,112...253,185,533
JBrowse link
G Pfkm phosphofructokinase, muscle ISO SMPDB SMP:00531 NCBI chr 7:139,702,066...139,722,132
Ensembl chr 7:139,685,573...139,722,132
JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00531 NCBI chr 1:261,158,204...261,165,814
Ensembl chr 1:261,158,261...261,165,808
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00531 NCBI chr14:86,045,005...86,047,116
Ensembl chr14:86,044,969...86,047,162
JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00531 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00531 NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00531 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
Ensembl chr 9:157,328,379...157,331,905
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 B ISO SMPDB SMP:00725 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00725 NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00725 NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
JBrowse link
G Aldob aldolase, fructose-bisphosphate B ISO SMPDB SMP:00725 NCBI chr 5:64,805,772...64,818,813
Ensembl chr 5:64,805,773...64,818,824
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00725 NCBI chr17:396,175...417,480
Ensembl chr17:396,180...417,480
JBrowse link
G Fcsk fucose kinase ISO SMPDB SMP:00725 NCBI chr19:43,338,146...43,357,826
Ensembl chr19:43,338,166...43,357,822
JBrowse link
G Fpgt fucose-1-phosphate guanylyltransferase ISO SMPDB SMP:00725 NCBI chr 2:261,382,015...261,402,950
Ensembl chr 2:261,382,060...261,402,903
JBrowse link
G Gfus GDP-L-fucose synthase ISO SMPDB SMP:00725 NCBI chr 7:116,958,427...116,963,281
Ensembl chr 7:116,958,392...116,963,295
JBrowse link
G Gmds GDP-mannose 4, 6-dehydratase ISO SMPDB SMP:00725 NCBI chr17:33,408,722...33,938,086
Ensembl chr17:33,408,722...33,938,085
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO SMPDB SMP:00725 NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00725 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Khk ketohexokinase ISO SMPDB SMP:00725 NCBI chr 6:26,810,577...26,821,013
Ensembl chr 6:26,810,579...26,820,959
JBrowse link
G Mpi mannose phosphate isomerase ISO SMPDB SMP:00725 NCBI chr 8:62,324,176...62,332,080
Ensembl chr 8:62,324,092...62,332,115
JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO SMPDB SMP:00725 NCBI chr  X:23,092,143...23,145,923
Ensembl chr  X:23,092,159...23,144,324
JBrowse link
G Pfkl phosphofructokinase, liver type ISO SMPDB SMP:00725 NCBI chr20:11,393,860...11,415,889
Ensembl chr20:11,393,877...11,415,882
JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO SMPDB SMP:00725 NCBI chr 3:2,797,037...2,798,436
Ensembl chr 3:2,796,997...2,798,470
JBrowse link
G Pmm1 phosphomannomutase 1 ISO SMPDB SMP:00725 NCBI chr 7:123,183,504...123,193,874
Ensembl chr 7:123,183,506...123,193,761
JBrowse link
G Sord sorbitol dehydrogenase ISO SMPDB SMP:00725 NCBI chr 3:114,176,127...114,207,368
Ensembl chr 3:114,176,309...114,207,366
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00725 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
Ensembl chr 9:157,328,379...157,331,905
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 chr16:7,758,192...7,791,301
Ensembl chr16:7,758,996...7,791,243
JBrowse link
G Hlcs holocarboxylase synthetase ISO SMPDB SMP:00564 NCBI chr11:34,357,372...34,537,798
Ensembl chr11:34,352,287...34,526,931
JBrowse link
G Spcs1 signal peptidase complex subunit 1 ISO SMPDB SMP:00564 NCBI chr16:7,080,389...7,081,957
Ensembl chr16:7,080,454...7,082,193
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 chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00196 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00196 NCBI chr 2:20,857,056...20,901,656
Ensembl chr 2:20,857,202...20,901,659
JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO SMPDB SMP:00196 NCBI chr 3:151,032,925...151,075,856
Ensembl chr 3:151,032,952...151,075,856
JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00196 NCBI chr 6:109,097,065...109,110,266
Ensembl chr 6:109,097,065...109,104,050
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00196 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00196 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00196 NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00196 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Glo1 glyoxalase 1 ISO SMPDB SMP:00196 NCBI chr20:9,273,589...9,291,608
Ensembl chr20:9,273,594...9,291,610
JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00196 NCBI chr 5:60,528,981...60,538,410
Ensembl chr 5:60,528,997...60,538,375
JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO SMPDB SMP:00196 NCBI chr10:14,215,913...14,230,506
Ensembl chr10:14,216,155...14,230,515
JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00196 NCBI chr19:43,826,989...43,848,937
Ensembl chr19:43,826,993...43,848,937
JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00196 NCBI chr14:106,378,349...106,393,642
Ensembl chr14:106,378,942...106,393,670
JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00196 NCBI chr 8:94,256,830...94,368,834
Ensembl chr 8:94,256,839...94,368,834
JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00196 NCBI chr18:69,737,515...69,784,099
Ensembl chr18:69,738,686...69,784,099
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00196 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00196 NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00196 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00196 NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854
JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00196 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
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 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00560 NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00560 NCBI chr 4:61,912,210...61,940,697
Ensembl chr 4:61,912,210...61,940,696
JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00560 NCBI chr 5:167,288,223...167,299,610
Ensembl chr 5:167,288,223...167,299,609
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00560 NCBI chr17:396,175...417,480
Ensembl chr17:396,180...417,480
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00560 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00560 NCBI chr 6:2,808,988...2,860,742
Ensembl chr 6:2,808,841...2,860,744
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00560 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00560 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00560 NCBI chr 4:113,559,396...113,609,897
Ensembl chr 4:113,559,427...113,610,243
JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00560 NCBI chr12:23,941,451...23,954,406
Ensembl chr12:23,941,448...23,954,431
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00560 NCBI chr 1:53,026,608...53,038,229
Ensembl chr 1:53,026,608...53,038,229
JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00560 NCBI chr 1:253,115,400...253,189,643
Ensembl chr 1:253,119,112...253,185,533
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00560 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00560 NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00560 NCBI chr 1:261,158,204...261,165,814
Ensembl chr 1:261,158,261...261,165,808
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00560 NCBI chr14:86,045,005...86,047,116
Ensembl chr14:86,044,969...86,047,162
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00560 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00560 NCBI chr10:57,265,903...57,268,018
Ensembl chr10:57,265,704...57,268,081
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00560 NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00560 NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00560 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
Ensembl chr 9:157,328,379...157,331,905
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 chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281
JBrowse link
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00352 NCBI chr 9:17,869,301...17,881,762
Ensembl chr 9:17,869,124...17,880,706
JBrowse link
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO SMPDB SMP:00352 NCBI chr 9:100,281,339...100,291,292
Ensembl chr 9:100,281,339...100,291,291
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00352 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00352 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
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 chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00558 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00558 NCBI chr 2:20,857,056...20,901,656
Ensembl chr 2:20,857,202...20,901,659
JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO SMPDB SMP:00558 NCBI chr 3:151,032,925...151,075,856
Ensembl chr 3:151,032,952...151,075,856
JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00558 NCBI chr 6:109,097,065...109,110,266
Ensembl chr 6:109,097,065...109,104,050
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00558 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00558 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00558 NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00558 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Glo1 glyoxalase 1 ISO SMPDB SMP:00558 NCBI chr20:9,273,589...9,291,608
Ensembl chr20:9,273,594...9,291,610
JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00558 NCBI chr 5:60,528,981...60,538,410
Ensembl chr 5:60,528,997...60,538,375
JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO SMPDB SMP:00558 NCBI chr10:14,215,913...14,230,506
Ensembl chr10:14,216,155...14,230,515
JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00558 NCBI chr19:43,826,989...43,848,937
Ensembl chr19:43,826,993...43,848,937
JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00558 NCBI chr14:106,378,349...106,393,642
Ensembl chr14:106,378,942...106,393,670
JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00558 NCBI chr 8:94,256,830...94,368,834
Ensembl chr 8:94,256,839...94,368,834
JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00558 NCBI chr18:69,737,515...69,784,099
Ensembl chr18:69,738,686...69,784,099
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00558 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00558 NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00558 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00558 NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854
JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00558 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
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 chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281
JBrowse link
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00350 NCBI chr 9:17,869,301...17,881,762
Ensembl chr 9:17,869,124...17,880,706
JBrowse link
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO SMPDB SMP:00350 NCBI chr 9:100,281,339...100,291,292
Ensembl chr 9:100,281,339...100,291,291
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00350 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00350 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
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 chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00212 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00212 NCBI chr 2:20,857,056...20,901,656
Ensembl chr 2:20,857,202...20,901,659
JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO SMPDB SMP:00212 NCBI chr 3:151,032,925...151,075,856
Ensembl chr 3:151,032,952...151,075,856
JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00212 NCBI chr 6:109,097,065...109,110,266
Ensembl chr 6:109,097,065...109,104,050
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00212 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00212 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00212 NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00212 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Glo1 glyoxalase 1 ISO SMPDB SMP:00212 NCBI chr20:9,273,589...9,291,608
Ensembl chr20:9,273,594...9,291,610
JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00212 NCBI chr 5:60,528,981...60,538,410
Ensembl chr 5:60,528,997...60,538,375
JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO SMPDB SMP:00212 NCBI chr10:14,215,913...14,230,506
Ensembl chr10:14,216,155...14,230,515
JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00212 NCBI chr19:43,826,989...43,848,937
Ensembl chr19:43,826,993...43,848,937
JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00212 NCBI chr14:106,378,349...106,393,642
Ensembl chr14:106,378,942...106,393,670
JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00212 NCBI chr 8:94,256,830...94,368,834
Ensembl chr 8:94,256,839...94,368,834
JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00212 NCBI chr18:69,737,515...69,784,099
Ensembl chr18:69,738,686...69,784,099
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00212 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00212 NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00212 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00212 NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854
JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00212 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
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 chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00334 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00334 NCBI chr 2:20,857,056...20,901,656
Ensembl chr 2:20,857,202...20,901,659
JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO SMPDB SMP:00334 NCBI chr 3:151,032,925...151,075,856
Ensembl chr 3:151,032,952...151,075,856
JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00334 NCBI chr 6:109,097,065...109,110,266
Ensembl chr 6:109,097,065...109,104,050
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00334 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00334 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00334 NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00334 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Glo1 glyoxalase 1 ISO SMPDB SMP:00334 NCBI chr20:9,273,589...9,291,608
Ensembl chr20:9,273,594...9,291,610
JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00334 NCBI chr 5:60,528,981...60,538,410
Ensembl chr 5:60,528,997...60,538,375
JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO SMPDB SMP:00334 NCBI chr10:14,215,913...14,230,506
Ensembl chr10:14,216,155...14,230,515
JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00334 NCBI chr19:43,826,989...43,848,937
Ensembl chr19:43,826,993...43,848,937
JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00334 NCBI chr14:106,378,349...106,393,642
Ensembl chr14:106,378,942...106,393,670
JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00334 NCBI chr 8:94,256,830...94,368,834
Ensembl chr 8:94,256,839...94,368,834
JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00334 NCBI chr18:69,737,515...69,784,099
Ensembl chr18:69,738,686...69,784,099
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00334 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00334 NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00334 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00334 NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854
JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00334 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
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 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
JBrowse link
G Cs citrate synthase ISO SMPDB SMP:00551 NCBI chr 7:2,752,680...2,778,963
Ensembl chr 7:2,752,680...2,778,963
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00551 NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00551 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00551 NCBI chr 6:108,936,534...108,961,322
Ensembl chr 6:108,936,664...108,959,803
JBrowse link
G Fh fumarate hydratase ISO SMPDB SMP:00551 NCBI chr13:93,651,486...93,677,371
Ensembl chr13:93,651,484...93,677,377
JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO SMPDB SMP:00551 NCBI chr 8:59,164,601...59,183,899
Ensembl chr 8:59,164,572...59,183,908
JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO SMPDB SMP:00551 NCBI chr 3:122,808,564...122,813,638
Ensembl chr 3:122,808,564...122,813,583
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO SMPDB SMP:00551 NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733
JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00551 NCBI chr12:23,941,451...23,954,406
Ensembl chr12:23,941,448...23,954,431
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00551 NCBI chr 1:53,026,608...53,038,229
Ensembl chr 1:53,026,608...53,038,229
JBrowse link
G Ogdh oxoglutarate dehydrogenase ISO SMPDB SMP:00551 NCBI chr14:86,414,924...86,481,903
Ensembl chr14:86,414,949...86,613,327
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00551 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00551 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00551 NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO SMPDB SMP:00551 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO SMPDB SMP:00551 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO SMPDB SMP:00551 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO SMPDB SMP:00551 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
JBrowse link
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO SMPDB SMP:00551 NCBI chr 4:101,181,315...101,210,692
Ensembl chr 4:101,180,404...101,210,746
JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO SMPDB SMP:00551 NCBI chr 4:127,552,100...127,824,970
Ensembl chr 4:127,552,101...127,824,970
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 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
JBrowse link
G Cs citrate synthase ISO SMPDB SMP:00550 NCBI chr 7:2,752,680...2,778,963
Ensembl chr 7:2,752,680...2,778,963
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00550 NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00550 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00550 NCBI chr 6:108,936,534...108,961,322
Ensembl chr 6:108,936,664...108,959,803
JBrowse link
G Fh fumarate hydratase ISO SMPDB SMP:00550 NCBI chr13:93,651,486...93,677,371
Ensembl chr13:93,651,484...93,677,377
JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO SMPDB SMP:00550 NCBI chr 8:59,164,601...59,183,899
Ensembl chr 8:59,164,572...59,183,908
JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO SMPDB SMP:00550 NCBI chr 3:122,808,564...122,813,638
Ensembl chr 3:122,808,564...122,813,583
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO SMPDB SMP:00550 NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733
JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00550 NCBI chr12:23,941,451...23,954,406
Ensembl chr12:23,941,448...23,954,431
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00550 NCBI chr 1:53,026,608...53,038,229
Ensembl chr 1:53,026,608...53,038,229
JBrowse link
G Ogdh oxoglutarate dehydrogenase ISO SMPDB SMP:00550 NCBI chr14:86,414,924...86,481,903
Ensembl chr14:86,414,949...86,613,327
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00550 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00550 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00550 NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO SMPDB SMP:00550 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO SMPDB SMP:00550 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO SMPDB SMP:00550 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO SMPDB SMP:00550 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
JBrowse link
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO SMPDB SMP:00550 NCBI chr 4:101,181,315...101,210,692
Ensembl chr 4:101,180,404...101,210,746
JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO SMPDB SMP:00550 NCBI chr 4:127,552,100...127,824,970
Ensembl chr 4:127,552,101...127,824,970
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 chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00559 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00559 NCBI chr 2:20,857,056...20,901,656
Ensembl chr 2:20,857,202...20,901,659
JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO SMPDB SMP:00559 NCBI chr 3:151,032,925...151,075,856
Ensembl chr 3:151,032,952...151,075,856
JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00559 NCBI chr 6:109,097,065...109,110,266
Ensembl chr 6:109,097,065...109,104,050
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00559 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00559 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00559 NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00559 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Glo1 glyoxalase 1 ISO SMPDB SMP:00559 NCBI chr20:9,273,589...9,291,608
Ensembl chr20:9,273,594...9,291,610
JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00559 NCBI chr 5:60,528,981...60,538,410
Ensembl chr 5:60,528,997...60,538,375
JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO SMPDB SMP:00559 NCBI chr10:14,215,913...14,230,506
Ensembl chr10:14,216,155...14,230,515
JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00559 NCBI chr19:43,826,989...43,848,937
Ensembl chr19:43,826,993...43,848,937
JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00559 NCBI chr14:106,378,349...106,393,642
Ensembl chr14:106,378,942...106,393,670
JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00559 NCBI chr 8:94,256,830...94,368,834
Ensembl chr 8:94,256,839...94,368,834
JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00559 NCBI chr18:69,737,515...69,784,099
Ensembl chr18:69,738,686...69,784,099
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00559 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00559 NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00559 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00559 NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854
JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00559 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
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 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00519 NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
JBrowse link
G Dera deoxyribose-phosphate aldolase ISO SMPDB SMP:00519 NCBI chr 4:171,748,254...171,826,414
Ensembl chr 4:171,748,273...171,826,409
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00519 NCBI chr17:396,175...417,480
Ensembl chr17:396,180...417,480
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO SMPDB SMP:00519 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00519 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Pfkl phosphofructokinase, liver type ISO SMPDB SMP:00519 NCBI chr20:11,393,860...11,415,889
Ensembl chr20:11,393,877...11,415,882
JBrowse link
G Pgd phosphogluconate dehydrogenase ISO SMPDB SMP:00519 NCBI chr 5:165,966,128...165,982,327 JBrowse link
G Pgls 6-phosphogluconolactonase ISO SMPDB SMP:00519 NCBI chr16:20,020,444...20,025,930
Ensembl chr16:20,020,444...20,025,930
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00519 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00519 NCBI chr 6:54,417,903...54,419,593
Ensembl chr 6:54,417,903...54,419,593
JBrowse link
G Rbks ribokinase ISO SMPDB SMP:00519 NCBI chr 6:26,051,568...26,128,762
Ensembl chr 6:26,051,396...26,128,906
JBrowse link
G Rpe ribulose-5-phosphate-3-epimerase ISO SMPDB SMP:00519 NCBI chr 9:73,687,684...73,713,643
Ensembl chr 9:73,687,743...73,711,571
JBrowse link
G Rpia ribose 5-phosphate isomerase A ISO SMPDB SMP:00519 NCBI chr 4:98,568,028...98,593,664
Ensembl chr 4:98,568,028...98,593,664
JBrowse link
G Taldo1 transaldolase 1 ISO SMPDB SMP:00519 NCBI chr 1:214,375,555...214,385,886
Ensembl chr 1:214,375,515...214,385,885
JBrowse link
G Tkt transketolase ISO SMPDB SMP:00519 NCBI chr16:6,609,670...6,634,608
Ensembl chr16:6,609,668...6,634,595
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 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00520 NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
JBrowse link
G Dera deoxyribose-phosphate aldolase ISO SMPDB SMP:00520 NCBI chr 4:171,748,254...171,826,414
Ensembl chr 4:171,748,273...171,826,409
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00520 NCBI chr17:396,175...417,480
Ensembl chr17:396,180...417,480
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO SMPDB SMP:00520 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00520 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Pfkl phosphofructokinase, liver type ISO SMPDB SMP:00520 NCBI chr20:11,393,860...11,415,889
Ensembl chr20:11,393,877...11,415,882
JBrowse link
G Pgd phosphogluconate dehydrogenase ISO SMPDB SMP:00520 NCBI chr 5:165,966,128...165,982,327 JBrowse link
G Pgls 6-phosphogluconolactonase ISO SMPDB SMP:00520 NCBI chr16:20,020,444...20,025,930
Ensembl chr16:20,020,444...20,025,930
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00520 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00520 NCBI chr 6:54,417,903...54,419,593
Ensembl chr 6:54,417,903...54,419,593
JBrowse link
G Rbks ribokinase ISO SMPDB SMP:00520 NCBI chr 6:26,051,568...26,128,762
Ensembl chr 6:26,051,396...26,128,906
JBrowse link
G Rpe ribulose-5-phosphate-3-epimerase ISO SMPDB SMP:00520 NCBI chr 9:73,687,684...73,713,643
Ensembl chr 9:73,687,743...73,711,571
JBrowse link
G Rpia ribose 5-phosphate isomerase A ISO SMPDB SMP:00520 NCBI chr 4:98,568,028...98,593,664
Ensembl chr 4:98,568,028...98,593,664
JBrowse link
G Taldo1 transaldolase 1 ISO SMPDB SMP:00520 NCBI chr 1:214,375,555...214,385,886
Ensembl chr 1:214,375,515...214,385,885
JBrowse link
G Tkt transketolase ISO SMPDB SMP:00520 NCBI chr16:6,609,670...6,634,608
Ensembl chr16:6,609,668...6,634,595
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 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00563 NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00563 NCBI chr 4:61,912,210...61,940,697
Ensembl chr 4:61,912,210...61,940,696
JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00563 NCBI chr 5:167,288,223...167,299,610
Ensembl chr 5:167,288,223...167,299,609
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00563 NCBI chr17:396,175...417,480
Ensembl chr17:396,180...417,480
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00563 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00563 NCBI chr 6:2,808,988...2,860,742
Ensembl chr 6:2,808,841...2,860,744
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00563 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00563 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00563 NCBI chr 4:113,559,396...113,609,897
Ensembl chr 4:113,559,427...113,610,243
JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00563 NCBI chr12:23,941,451...23,954,406
Ensembl chr12:23,941,448...23,954,431
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00563 NCBI chr 1:53,026,608...53,038,229
Ensembl chr 1:53,026,608...53,038,229
JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00563 NCBI chr 1:253,115,400...253,189,643
Ensembl chr 1:253,119,112...253,185,533
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00563 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00563 NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00563 NCBI chr 1:261,158,204...261,165,814
Ensembl chr 1:261,158,261...261,165,808
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00563 NCBI chr14:86,045,005...86,047,116
Ensembl chr14:86,044,969...86,047,162
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00563 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00563 NCBI chr10:57,265,903...57,268,018
Ensembl chr10:57,265,704...57,268,081
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00563 NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00563 NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00563 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
Ensembl chr 9:157,328,379...157,331,905
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6103
    disease pathway 1957
      congenital disease pathway 529
        inborn genetic disease pathway 529
          inborn error of metabolism pathway 529
            inborn error of carbohydrate metabolism pathway 124
              D-glycericacidemia pathway 13
              Glut1 deficiency syndrome pathway 9
              congenital sucrase-isomaltase deficiency pathway 14
              galactosemias pathway + 16
              glycerol kinase deficiency pathway 13
              glycogen storage disease pathway + 35
              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