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Details
Link-It Detail - Disease - Glycogen Storage Disease Type V
Debug Stats
  • ### Total Build Time: 167 ms 30.219 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 360 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 268 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=10 ms Completed: 10 ms rowSize= 560 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=12 ms Completed: 12 ms rowSize= 2.847 KB
  • CONCEPT_RELATIONSHIPS gt=119 ms Completed: 119 ms rowSize= 13.104 KB
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 11.725 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 V C0017924
Definition (1)
Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Glycogen Storage Disease C0017919
Ancestral Roots
RootRoot Plus OneDepthParent
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 (26)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 4
diso_​to_​diso : 17
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 9
associated_​with : 3
entry_​version_​of : 1
manifestation_​of : 13
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN53img genetic aspects C0017399
DISO_to_CHEM40img Glycogen Phosphorylase, Muscle Form C0917783
DISO_to_PHEN21img genetic aspects C0017399
DISO_to_CHEM15img Glycogen Phosphorylase, Muscle Form C0917783
DISO_to_ANAT14img Muscle, Skeletal C0242692
DISO_to_PHYS12img Missense Mutation C0599155
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_DISO10img Complication Aspects C1171258
DISO_to_PHYS10img Mutation C0026882
DISO_to_CHEMassociated_withimg Glycogen C0017911
DISO_to_CHEMassociated_withimg Glycogen Phosphorylase, Muscle Form C0917783
DISO_to_DISOmanifestation_ofimg 'Second wind' phenomenon C1856299
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg CPK INCREASED C0151576
DISO_to_DISOmanifestation_ofimg Caused by mutations in the muscle glycogen phosphorylase gene (PYGM, 608455.0001) C1968738
DISO_to_DISOmanifestation_ofimg Dark urine following exercise C1856292
DISO_to_DISOmanifestation_ofimg Decreased exercise capacity C0948372
DISO_to_DISOentry_version_ofimg Glycogen Storage Disease Type V C0017924
DISO_to_DISOmanifestation_ofimg Increased ammonia with exercise C1856293
DISO_to_DISOmanifestation_ofimg Increased uric acid with exercise C1856294
DISO_to_DISOmanifestation_ofimg Muscle pain and cramps following exercise C1968737
DISO_to_DISOmanifestation_ofimg Myoglobinuria C0027080
DISO_to_DISOmanifestation_ofimg Painful cramping following ischemic exercise test C1856300
DISO_to_DISOmanifestation_ofimg RHABDOMYOLYSIS C0035410
DISO_to_DISOmanifestation_ofimg Skeletal muscle weakness C1856295
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanSLC2A46517solute carrier family 2 (facilitated glucose transporter), member 4
img GENERIF, Score=734, Pubmed Id: 18067156, UMLKSK CUI: C0017924
HumanPYGM5837phosphorylase, glycogen, muscle
img GENERIF, Score=1000, Pubmed Id: 12640006, UMLKSK CUI: C0017924
img GENERIF, Score=1000, Pubmed Id: 17324573, UMLKSK CUI: C0017924
img GENERIF, Score=1000, Pubmed Id: 15979037, UMLKSK CUI: C0017924
img GENERIF, Score=1000, Pubmed Id: 17994553, UMLKSK CUI: C0017924
img OMIM, Score=1000, UMLKSK CUI: C0017924
img GENERIF, Score=1000, Pubmed Id: 12398832, UMLKSK CUI: C0017924
img GENERIF, Score=1000, Pubmed Id: 16786513, UMLKSK CUI: C0017924
img GENERIF, Score=1000, Pubmed Id: 11749054, UMLKSK CUI: C0017924
img GENERIF, Score=1000, Pubmed Id: 16154688, UMLKSK CUI: C0017924
img GENERIF, Score=1000, Pubmed Id: 12031624, UMLKSK CUI: C0017924
img GAD, Score=1000, Pubmed Id: 9152836, UMLKSK CUI: C0017924
HumanACE1636angiotensin I converting enzyme
img GENERIF, Score=1000, Pubmed Id: 17630210, UMLKSK CUI: C0017924
HumanACTN389actinin, alpha 3
img GENERIF, Score=1000, Pubmed Id: 17560787, UMLKSK CUI: C0017924
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0017924Glycogen Storage Disease Type V0self