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ONTOLOGY REPORT - ANNOTATIONS


Term:glycogen storage disease
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Accession:DOID:2747 term browser browse the term
Definition:A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.
Synonyms:exact_synonym: glycogen storage diseases;   glycogenoses;   glycogenosis
 primary_id: MESH:D006008
 alt_id: RDO:0004069
 xref: NCI:C61272;   OMIM:PS615895
For additional species annotation, visit the Alliance of Genome Resources.


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glycogen storage disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase JBrowse link 2 219,788,234 219,843,189 RGD:8554872
G G6pc glucose-6-phosphatase, catalytic subunit JBrowse link 10 89,286,009 89,296,213 RGD:8554872
G Gaa glucosidase, alpha, acid JBrowse link 10 108,395,873 108,412,999 RGD:8554872
G Gyg1 glycogenin 1 JBrowse link 2 104,916,734 104,958,219 RGD:11554173
G Gys2 glycogen synthase 2 JBrowse link 4 176,638,632 176,679,805 RGD:1600764
RGD:8554872
G Pfkm phosphofructokinase, muscle JBrowse link 7 139,702,066 139,722,132 RGD:8554872
G Phka1 phosphorylase kinase regulatory subunit alpha 1 JBrowse link X 72,377,020 72,515,385 RGD:1599893
G Phka2 phosphorylase kinase regulatory subunit alpha 2 JBrowse link X 35,970,650 36,926,616 RGD:1601388
RGD:11554173
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 JBrowse link 1 199,019,298 199,032,053 RGD:737724
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 4 6,559,153 6,799,888 RGD:1580717
G Pygl glycogen phosphorylase L JBrowse link 6 92,597,759 92,643,734 RGD:1599374
G Pygm glycogen phosphorylase, muscle associated JBrowse link 1 221,756,325 221,771,142 RGD:8554872
G Slc2a2 solute carrier family 2 member 2 JBrowse link 2 114,413,427 114,445,418 RGD:1624253
G Slc37a4 solute carrier family 37 member 4 JBrowse link 8 48,716,914 48,723,024 RGD:8554872
Cardiac Form of Generalized Glycogenosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gaa glucosidase, alpha, acid JBrowse link 10 108,395,873 108,412,999 RGD:8554872
congenital disorder of glycosylation It term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pgm1 phosphoglucomutase 1 JBrowse link 5 118,743,632 118,803,055 RGD:8554872
RGD:7240710
Danon disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akap14 A-kinase anchoring protein 14 JBrowse link X 123,773,430 123,788,898 RGD:8554872
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 JBrowse link X 124,631,544 124,652,520 RGD:8554872
G Lamp2 lysosomal-associated membrane protein 2 JBrowse link X 124,722,628 124,766,079 RGD:7240710
RGD:8554872
RGD:13703117
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 RGD:13703117
G LOC100364002 reproductive homeobox 9-like JBrowse link X 123,999,683 124,002,081 RGD:8554872
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 JBrowse link X 123,803,109 123,806,760 RGD:8554872
G Nkap NFKB activating protein JBrowse link X 123,751,196 123,770,595 RGD:8554872
G Rhox10 reproductive homeobox 10 JBrowse link X 124,207,017 124,211,455 RGD:8554872
G Rnf113a1 ring finger protein 113A1 JBrowse link X 123,806,922 123,808,049 RGD:8554872
G Tmem255a transmembrane protein 255A JBrowse link X 124,400,686 124,465,156 RGD:8554872
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay JBrowse link X 123,713,327 123,731,431 RGD:8554872
G Zbtb33 zinc finger and BTB domain containing 33 JBrowse link X 124,319,299 124,326,506 RGD:8554872
Glycogen Storage Disease 0, Liver term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gys2 glycogen synthase 2 JBrowse link 4 176,638,632 176,679,805 RGD:7240710
RGD:8554872
Glycogen Storage Disease 0, Muscle term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ftl1 ferritin light chain 1 JBrowse link 1 101,448,190 101,450,034 RGD:8554872
G Gys1 glycogen synthase 1 JBrowse link 1 101,427,195 101,447,092 RGD:7240710
RGD:8554872
glycogen storage disease I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pc glucose-6-phosphatase, catalytic subunit JBrowse link 10 89,286,009 89,296,213 RGD:11554173
RGD:8554872
G Slc37a4 solute carrier family 37 member 4 JBrowse link 8 48,716,914 48,723,024 RGD:61591
RGD:8554872
RGD:13592920
Glycogen Storage Disease IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pc glucose-6-phosphatase, catalytic subunit JBrowse link 10 89,286,009 89,296,213 RGD:7240710
RGD:8554872
RGD:14695549
RGD:14695538
RGD:14695534
Glycogen Storage Disease IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pc glucose-6-phosphatase, catalytic subunit JBrowse link 10 89,286,009 89,296,213 RGD:8554872
G Slc37a4 solute carrier family 37 member 4 JBrowse link 8 48,716,914 48,723,024 RGD:1599000
RGD:8554872
RGD:7240710
Glycogen Storage Disease IC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc37a4 solute carrier family 37 member 4 JBrowse link 8 48,716,914 48,723,024 RGD:7240710
RGD:8554872
glycogen storage disease II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc40 coiled-coil domain containing 40 JBrowse link 10 108,055,270 108,393,408 RGD:8554872
G Gaa glucosidase, alpha, acid JBrowse link 10 108,395,873 108,412,999 RGD:7240710
RGD:8554872
RGD:11554173
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:11554173
glycogen storage disease III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase JBrowse link 2 219,788,234 219,843,189 RGD:1601129
RGD:8554872
RGD:11554173
RGD:7240710
RGD:1331525
Glycogen Storage Disease IIIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase JBrowse link 2 219,788,234 219,843,189 RGD:8554872
Glycogen Storage Disease IIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase JBrowse link 2 219,788,234 219,843,189 RGD:1566516
RGD:8554872
Glycogen Storage Disease IIIC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase JBrowse link 2 219,788,234 219,843,189 RGD:8554872
glycogen storage disease IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gbe1 1,4-alpha-glucan branching enzyme 1 JBrowse link 11 7,210,169 7,485,895 RGD:1601279
RGD:8554872
RGD:7240710
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 JBrowse link 3 147,793,014 147,809,941 RGD:8554872
glycogen storage disease IXa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phka2 phosphorylase kinase regulatory subunit alpha 2 JBrowse link X 35,970,650 36,926,616 RGD:7240710
RGD:8554872
glycogen storage disease IXb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phkb phosphorylase kinase regulatory subunit beta JBrowse link 19 22,031,684 22,281,788 RGD:7240710
RGD:8554872
glycogen storage disease IXc term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 JBrowse link 1 199,019,298 199,032,053 RGD:8554872
RGD:7240710
glycogen storage disease IXd term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phka1 phosphorylase kinase regulatory subunit alpha 1 JBrowse link X 72,377,020 72,515,385 RGD:7240710
RGD:8554872
glycogen storage disease V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:11554173
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link 6 96,810,868 96,856,303 RGD:13592920
G Pygm glycogen phosphorylase, muscle associated JBrowse link 1 221,756,325 221,771,142 RGD:1599985
RGD:8554872
RGD:11554173
RGD:7240710
glycogen storage disease VI term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pygl glycogen phosphorylase L JBrowse link 6 92,597,759 92,643,734 RGD:7240710
RGD:8554872
RGD:11554173
glycogen storage disease VII term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link 6 96,810,868 96,856,303 RGD:13592920
G Pfkm phosphofructokinase, muscle JBrowse link 7 139,702,066 139,722,132 RGD:1599108
RGD:8554872
RGD:11554173
RGD:7240710
Glycogen Storage Disease XII term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link 1 198,228,387 198,233,988 RGD:7240710
RGD:8554872
Glycogen Storage Disease XIII term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eno3 enolase 3 JBrowse link 10 57,278,271 57,283,661 RGD:7240710
RGD:8554872
glycogen storage disease XV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gyg1 glycogenin 1 JBrowse link 2 104,916,734 104,958,219 RGD:7240710
RGD:8554872
GSD IV, Classic Hepatic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gbe1 1,4-alpha-glucan branching enzyme 1 JBrowse link 11 7,210,169 7,485,895 RGD:8554872
GSD IV, combined hepatic and myopathic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gbe1 1,4-alpha-glucan branching enzyme 1 JBrowse link 11 7,210,169 7,485,895 RGD:8554872
GSD IV, Neuromuscular Form, Childhood term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gbe1 1,4-alpha-glucan branching enzyme 1 JBrowse link 11 7,210,169 7,485,895 RGD:8554872
GSD IV, Neuromuscular Form, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gbe1 1,4-alpha-glucan branching enzyme 1 JBrowse link 11 7,210,169 7,485,895 RGD:8554872
Lactate Dehydrogenase Deficiency Type A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ldha lactate dehydrogenase A JBrowse link 1 102,900,288 102,909,713 RGD:7240710
RGD:8554872
lethal congenital glycogen storage disease of heart term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 4 6,559,153 6,799,888 RGD:7240710
RGD:8554872
Polyglucosan Body Disease, Adult Form term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gbe1 1,4-alpha-glucan branching enzyme 1 JBrowse link 11 7,210,169 7,485,895 RGD:7240710
RGD:8554872
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 JBrowse link 3 147,793,014 147,809,941 RGD:8554872
RGD:7240710
POLYGLUCOSAN BODY MYOPATHY 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gyg1 glycogenin 1 JBrowse link 2 104,916,734 104,958,219 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          carbohydrate metabolic disorder 320
            glycogen storage disease 40
              Danon disease 13
              Glycogen Storage Disease 0, Liver 1
              Glycogen Storage Disease 0, Muscle 2
              Glycogen Storage Disease XII 1
              Glycogen Storage Disease XIII 1
              Lactate Dehydrogenase Deficiency Type A 1
              Liver Glycogenosis, X-Linked, Type II 0
              POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY 1
              POLYGLUCOSAN BODY MYOPATHY 2 1
              Polyglucosan Body Disease, Adult Form 1
              congenital disorder of glycosylation It 1
              glycogen storage disease I + 2
              glycogen storage disease II + 3
              glycogen storage disease III + 1
              glycogen storage disease IV + 2
              glycogen storage disease IX + 4
              glycogen storage disease V 3
              glycogen storage disease VI 1
              glycogen storage disease VII 2
              glycogen storage disease VIII 0
              glycogen storage disease XV 1
              lethal congenital glycogen storage disease of heart 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          inherited metabolic disorder 1864
            carbohydrate metabolic disorder 320
              glycogen metabolism disorder 40
                glycogen storage disease 40
                  Danon disease 13
                  Glycogen Storage Disease 0, Liver 1
                  Glycogen Storage Disease 0, Muscle 2
                  Glycogen Storage Disease XII 1
                  Glycogen Storage Disease XIII 1
                  Lactate Dehydrogenase Deficiency Type A 1
                  Liver Glycogenosis, X-Linked, Type II 0
                  POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY 1
                  POLYGLUCOSAN BODY MYOPATHY 2 1
                  Polyglucosan Body Disease, Adult Form 1
                  congenital disorder of glycosylation It 1
                  glycogen storage disease I + 2
                  glycogen storage disease II + 3
                  glycogen storage disease III + 1
                  glycogen storage disease IV + 2
                  glycogen storage disease IX + 4
                  glycogen storage disease V 3
                  glycogen storage disease VI 1
                  glycogen storage disease VII 2
                  glycogen storage disease VIII 0
                  glycogen storage disease XV 1
                  lethal congenital glycogen storage disease of heart 1
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.