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Details
Link-It Detail - Disease - Glycogen Storage Disease Type I
Debug Stats
  • ### Total Build Time: 67 ms 37.832 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 360 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 538 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=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 560 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.847 KB
  • CONCEPT_RELATIONSHIPS gt=35 ms Completed: 35 ms rowSize= 13.221 KB
  • CONCEPT_GENES gt=22 ms Completed: 22 ms rowSize= 18.957 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.165 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Glycogen Storage Disease Type I C0017920
Definition (1)
An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Glycogen Storage Disease C0017919
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Glycogen Storage Disease C0017919
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Glycogen Storage Disease C0017919
Relationships (56)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 7
diso_​to_​diso : 40
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 21
associated_​with : 3
isa : 1
manifestation_​of : 28
mapped_​to : 2
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO65img Complication Aspects C1171258
DISO_to_DISO55img Complication Aspects C1171258
DISO_to_PHEN48img genetic aspects C0017399
DISO_to_PHEN35img genetic aspects C0017399
DISO_to_ANAT22img In Blood C0005768
DISO_to_CHEM19img GLUCOSE-6-PHOSPHATASE C0017755
DISO_to_DISO15img Liver Neoplasms C0023903
DISO_to_ANAT13img In Blood C0005768
DISO_to_CHEM13img GLUCOSE-6-PHOSPHATASE C0017755
DISO_to_PHYS11img Mutation C0026882
DISO_to_DISO10img Adenoma, Liver Cell C0206669
DISO_to_ANAT9img Liver C0023884
DISO_to_DISO9img Neutropenia C0027947
DISO_to_ANAT8img Neutrophils C0027950
DISO_to_CHEM7img Antiporters C0052088
DISO_to_CHEM7img Monosaccharide Transport Proteins C0026491
DISO_to_PHYS7img Mutation C0026882
DISO_to_ANAT6img Neutrophils C0027950
DISO_to_CHEM6img GENET VECTORS C0017397
DISO_to_DISO6img Glycogen Storage Disease Type III C0017922
DISO_to_DISO6img Hypoglycemia C0020615
DISO_to_CHEMassociated_withimg GLUCOSE-6-PHOSPHATASE C0017755
DISO_to_CHEMassociated_withimg Glycogen C0017911
DISO_to_DISOmanifestation_ofimg 'Doll-like' facies C1856361
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
Genes (13)

Species:
human : 13
SpeciesGeneGeneIdGene NameEvidence
HumanG6PC257818glucose-6-phosphatase, catalytic, 2
img GENERIF, Score=1000, Pubmed Id: 17607665, UMLKSK CUI: C0017920
HumanUGT1A154658UDP glucuronosyltransferase 1 family, polypeptide A1
img GENERIF, Score=1000, Pubmed Id: 18043502, UMLKSK CUI: C0017920
img GAD, Score=1000, Pubmed Id: 11987245, UMLKSK CUI: C0017920
img GENERIF, Score=734, Pubmed Id: 12972027, UMLKSK CUI: C0017920
HumanVWF7450von Willebrand factor
img GENERIF, Score=1000, Pubmed Id: 16435187, UMLKSK CUI: C0017920
HumanTNF7124tumor necrosis factor
img GAD, Score=1000, Pubmed Id: 15718915, UMLKSK CUI: C0017920
HumanTGFB17040transforming growth factor, beta 1
img GAD, Score=1000, Pubmed Id: 15718915, UMLKSK CUI: C0017920
HumanIL103586interleukin 10
img GAD, Score=1000, Pubmed Id: 15718915, UMLKSK CUI: C0017920
HumanIL83576interleukin 8
img GENERIF, Score=1000, Pubmed Id: 18191274, UMLKSK CUI: C0017920
HumanIL63569interleukin 6 (interferon, beta 2)
img GAD, Score=1000, Pubmed Id: 15718915, UMLKSK CUI: C0017920
HumanIFNG3458interferon, gamma
img GAD, Score=1000, Pubmed Id: 15718915, UMLKSK CUI: C0017920
HumanSLC37A42542solute carrier family 37 (glucose-6-phosphate transporter), member 4
img GENERIF, Score=1000, Pubmed Id: 16435186, UMLKSK CUI: C0017920
HumanG6PD2539glucose-6-phosphate dehydrogenase
Click here to display 28 evidence detail records.
HumanG6PC2538glucose-6-phosphatase, catalytic subunit
img GENERIF, Score=723, Pubmed Id: 12373566, UMLKSK CUI: C0017920
img GENERIF, Score=1000, Pubmed Id: 18008183, UMLKSK CUI: C0017920
HumanSCARB1949scavenger receptor class B, member 1
img GENERIF, Score=780, Pubmed Id: 16777453, UMLKSK CUI: C0017920
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0017920Glycogen Storage Disease Type I0self