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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 type III pathway
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Accession:PW:0001994 term browser browse the term
Definition:A type of glycogen disease pathway that involves the glycogen debranching enzyme. There are further subdivisions, to delineate the clinical manifestations.
Synonyms:exact_synonym: amylo 1,6 glucosidase deficiency pathway;   deficiency of debranching enzyme pathway;   deficiency of dextrin pathway;   glycogen storage disease pathway, type III
 related_synonym: Cori disease pathway;   SMP:00553



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glycogen storage disease type III pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO SMPDB SMP:00553 NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00553 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00553 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00553 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086
JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00553 NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905
JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00553 NCBI chr 4:175,365,054...175,406,228
Ensembl chr 4:175,365,054...175,406,228
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00553 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530
JBrowse link
G Mgam maltase-glucoamylase ISO SMPDB SMP:00553 NCBI chr 4:69,441,626...69,602,068
Ensembl chr 4:69,446,150...69,692,715
JBrowse link
G Mgam2 maltase-glucoamylase 2 ISO SMPDB SMP:00553 NCBI chr 4:69,624,024...69,715,782
Ensembl chr 4:69,637,799...69,683,742
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00553 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728
JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO SMPDB SMP:00553 NCBI chr 1:154,571,410...154,620,901
Ensembl chr 1:154,571,766...154,620,902
JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00553 NCBI chr 6:88,697,598...88,740,260
Ensembl chr 6:88,697,593...88,740,310
JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00553 NCBI chr 2:157,505,893...157,586,228
Ensembl chr 2:157,506,342...157,585,260
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00553 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00553 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6092
    disease pathway 1954
      congenital disease pathway 530
        inborn genetic disease pathway 530
          inborn error of metabolism pathway 530
            inborn error of carbohydrate metabolism pathway 125
              glycogen storage disease pathway 36
                glycogen storage disease type III pathway 15
paths to the root