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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:glycogen storage disease pathway
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Accession:PW:0001991 term browser browse the term
Definition:A group of inherited metabolic disorders resulting from alterations in the glycogen metabolic pathway.
Synonyms:related_synonym: Glycogen storage diseases
 alt_id: Reactome:R-HSA-3229121


show annotations for term's descendants           Sort by:
 
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 G6pc glucose-6-phosphatase, catalytic subunit 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
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 G6pc glucose-6-phosphatase, catalytic subunit 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
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 G6pc glucose-6-phosphatase, catalytic subunit 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6103
    disease pathway 1953
      congenital disease pathway 528
        inborn genetic disease pathway 528
          inborn error of metabolism pathway 528
            inborn error of carbohydrate metabolism pathway 124
              glycogen storage disease pathway 35
                glycogen storage disease type Ia pathway 22
                glycogen storage disease type III pathway 14
                glycogen storage disease type IV pathway 14
                glycogen storage disease type Ib pathway 22
                glycogen storage disease type VI pathway 14
                glycogen storage disease type VII pathway 16
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.