Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - Glycogen Storage Disease Type VII
Debug Stats
  • ### Total Build Time: 38 ms 27.243 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 364 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 420 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=5 ms Completed: 5 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=1 ms Completed: 1 ms rowSize= 998 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 7.999 KB
  • CONCEPT_RELATIONSHIPS gt=19 ms Completed: 19 ms rowSize= 12.819 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 3.299 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.167 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Glycogen Storage Disease Type VII C0017926
Definition (1)
autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle resulting in abnormal deposition of glycogen in muscle tissue; patients have severe congenital muscular dystrophy and are exercise intolerant.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Muscular Dystrophies C0026850
img Glycogen Storage Disease C0017919
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Muscular Dystrophies C0026850
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278685img Muscular Dystrophies C0026850
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278686img Muscular Dystrophies C0026850
img Musculoskeletal Diseases C0026857img Muscular Diseases C00268485img Muscular Dystrophies C0026850
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Glycogen Storage Disease C0017919
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Glycogen Storage Disease C0017919
Relationships (29)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 25
diso_​to_​phen : 2


Relationships:
none : 5
alias_​of : 1
associated_​with : 3
manifestation_​of : 20
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO5img Complication Aspects C1171258
DISO_to_PHEN4img genetic aspects C0017399
DISO_to_DISO3img Complication Aspects C1171258
DISO_to_DISO3img Glycogen Storage Disease Type V C0017924
DISO_to_PHEN3img genetic aspects C0017399
DISO_to_CHEMassociated_withimg 6-Phosphofructokinase C0031651
DISO_to_CHEMassociated_withimg Glycogen C0017911
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg A severe infantile variant has been rarely reported C1968736
DISO_to_DISOmanifestation_ofimg ANAEMIA HAEMOLYTIC C0002878
DISO_to_DISOmanifestation_ofimg Caused by mutation in the muscle phosphofructokinase gene (PFKM, 610681.0001) C1968733
DISO_to_DISOmanifestation_ofimg Decreased erythrocyte 2,3-diphosphoglycerate (2,3-DPG) C1968731
DISO_to_DISOmanifestation_ofimg EXERCISE INTOLERANCE C0241885
DISO_to_DISOmanifestation_ofimg Exercise intolerance often evident in childhood C1968734
DISO_to_DISOmanifestation_ofimg Gallstones due to hemolytic anemia C1968726
DISO_to_DISOalias_ofimg Glycogen Storage Disease Type VII C0017926
DISO_to_DISOmanifestation_ofimg Gout due to increased uric acid C1968730
DISO_to_DISOmanifestation_ofimg HYPERURICAEMIA C0740394
DISO_to_DISOmanifestation_ofimg Increased bilirubin level (finding) C0311468
DISO_to_DISOmanifestation_ofimg Increased muscle glycogen content C1968729
DISO_to_DISOmanifestation_ofimg Increased reticulocyte count C0853718
DISO_to_DISOmanifestation_ofimg Jaundice due to hemolytic anemia C1968727
DISO_to_DISOmanifestation_ofimg Late-adult onset has been reported C1968735
DISO_to_DISOmanifestation_ofimg Muscle Weakness C0151786
DISO_to_DISOmanifestation_ofimg Muscle cramps with exertion C1856278
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanPFKM5213phosphofructokinase, muscle
img OMIM, Score=1000, UMLKSK CUI: C0017926
img GAD, Score=1000, Pubmed Id: 7479776, UMLKSK CUI: C0017926
HumanAMPD3272adenosine monophosphate deaminase 3
img GENERIF, Score=901, Pubmed Id: 16670071, UMLKSK CUI: C0017926
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0017926Glycogen Storage Disease Type VII0self