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Details
Link-It Detail - Disease - Glycogen Storage Disease
Debug Stats
  • ### Total Build Time: 59 ms 43.727 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 346 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 392 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=7 ms Completed: 7 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 574 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 4.079 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.874 KB
  • CONCEPT_RELATIONSHIPS gt=34 ms Completed: 34 ms rowSize= 13.504 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 20.619 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Glycogen Storage Disease C0017919
Definition (1)
An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Carbohydrate Metabolism, Inborn Errors C0007001
Children (9)
img Glycogen Storage Disease Type I C0017920
img Glycogen Storage Disease Type VII C0017926
img Glycogen Storage Disease Type VIII C0017927
img Glycogen Storage Disease Type IV C0017923
img Glycogen Storage Disease Type IIb C0878677
img Glycogen Storage Disease Type II C0017921
img Glycogen Storage Disease Type V C0017924
img Glycogen Storage Disease Type III C0017922
img Glycogen Storage Disease Type VI C0017925
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Carbohydrate Metabolism, Inborn Errors C0007001
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Carbohydrate Metabolism, Inborn Errors C0007001
Relationships (56)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 4
diso_​to_​diso : 46
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 14
associated_​with : 3
classifies : 2
expanded_​form_​of : 1
isa : 5
mapped_​to : 31
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN36img genetic aspects C0017399
DISO_to_PHEN21img genetic aspects C0017399
DISO_to_DISO16img Complication Aspects C1171258
DISO_to_DISO13img Disease, Equine C0019940
DISO_to_CHEM12img Glycogen (Starch) Synthase C0017932
DISO_to_DISO12img Complication Aspects C1171258
DISO_to_ANAT11img Muscle, Skeletal C0242692
DISO_to_ANAT10img Liver C0023884
DISO_to_ANAT10img Muscle, Skeletal C0242692
DISO_to_CHEM9img Glycogen C0017911
DISO_to_DISO9img Muscular Diseases C0026848
DISO_to_PHYS9img Mutation C0026882
DISO_to_CHEM8img Phosphorylase Kinase C0031713
DISO_to_DISO8img Diabetes Mellitus, Insulin-Dependent C0011854
DISO_to_CHEMassociated_withimg Glycogen C0017911
DISO_to_DISOmapped_toimg Carbohydrate-deficient glycoprotein syndrome type I C0349653
DISO_to_DISOmapped_toimg Cardiac glycogen phosphorylase kinase deficiency C0574106
DISO_to_DISOisaimg Danon Disease C0878677
DISO_to_DISOisaimg Deficiency of alpha-dextrin endo-1,6-alpha-glucosidase C1288273
DISO_to_DISOmapped_toimg Deficiency of dephosphophosphorylase kinase C1291390
DISO_to_DISOmapped_toimg Deficiency of glucose phosphomutase C1291618
DISO_to_DISOmapped_toimg Deficiency of glucose-6-phosphate isomerase C1291611
DISO_to_DISOmapped_toimg Deficiency of glycogen synthase a kinase C1270893
DISO_to_DISOmapped_toimg Deficiency of phosphorylase b kinase kinase C1270895
DISO_to_DISOassociated_withimg Dilated cardiomyopathy secondary to glycogen storage disease C0264804
Genes (28)

Species:
human : 28
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SpeciesGeneGeneIdGene NameEvidence
HumanG6PC257818glucose-6-phosphatase, catalytic, 2
INFERRED, Score=800, UMLKSK CUI: C0017919
HumanUGT1A154658UDP glucuronosyltransferase 1 family, polypeptide A1
INFERRED, Score=800, UMLKSK CUI: C0017919
HumanPRKAG251422protein kinase, AMP-activated, gamma 2 non-catalytic subunit
img GENERIF, Score=1000, Pubmed Id: 17431505, UMLKSK CUI: C0017919
img GENERIF, Score=827, Pubmed Id: 16487706, UMLKSK CUI: C0017919
HumanVWF7450von Willebrand factor
INFERRED, Score=800, UMLKSK CUI: C0017919
HumanTNF7124tumor necrosis factor
INFERRED, Score=800, UMLKSK CUI: C0017919
HumanTGFB17040transforming growth factor, beta 1
INFERRED, Score=800, UMLKSK CUI: C0017919
HumanSLC3A16519solute carrier family 3 (amino acid transporter heavy chain), member 1
img GAD, Score=1000, Pubmed Id: 11458794, UMLKSK CUI: C0017919
HumanSLC2A46517solute carrier family 2 (facilitated glucose transporter), member 4
INFERRED, Score=800, UMLKSK CUI: C0017919
HumanPYGM5837phosphorylase, glycogen, muscle
INFERRED, Score=800, UMLKSK CUI: C0017919
HumanPHKB5257phosphorylase kinase, beta
INFERRED, Score=800, UMLKSK CUI: C0017919
HumanPFKM5213phosphofructokinase, muscle
INFERRED, Score=800, UMLKSK CUI: C0017919
HumanLAMP23920lysosomal-associated membrane protein 2
INFERRED, Score=800, UMLKSK CUI: C0017919
HumanKCNJ123768potassium inwardly-rectifying channel, subfamily J, member 12
INFERRED, Score=800, UMLKSK CUI: C0017919
HumanKCNJ63763potassium inwardly-rectifying channel, subfamily J, member 6
INFERRED, Score=800, UMLKSK CUI: C0017919
HumanKCNJ33760potassium inwardly-rectifying channel, subfamily J, member 3
INFERRED, Score=800, UMLKSK CUI: C0017919
HumanIL103586interleukin 10
INFERRED, Score=800, UMLKSK CUI: C0017919
HumanIL83576interleukin 8
INFERRED, Score=800, UMLKSK CUI: C0017919
HumanIL63569interleukin 6 (interferon, beta 2)
INFERRED, Score=800, UMLKSK CUI: C0017919
HumanIFNG3458interferon, gamma
INFERRED, Score=800, UMLKSK CUI: C0017919
HumanGBE12632glucan (1,4-alpha-), branching enzyme 1
INFERRED, Score=800, UMLKSK CUI: C0017919
HumanGAA2548glucosidase, alpha; acid
img GAD, Score=1000, Pubmed Id: 15313146, UMLKSK CUI: C0017919
HumanG6PD2539glucose-6-phosphate dehydrogenase
INFERRED, Score=800, UMLKSK CUI: C0017919
HumanG6PC2538glucose-6-phosphatase, catalytic subunit
img GAD, Score=1000, Pubmed Id: 15316959, UMLKSK CUI: C0017919
HumanACE1636angiotensin I converting enzyme
INFERRED, Score=800, UMLKSK CUI: C0017919
HumanSCARB1949scavenger receptor class B, member 1
INFERRED, Score=800, UMLKSK CUI: C0017919
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0017919Glycogen Storage Disease0self