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Details
Link-It Detail - Disease - PEOA1
Debug Stats
  • ### Total Build Time: 173 ms 15.326 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 308 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=155 ms Completed: 155 ms rowSize= 12.433 KB
  • CONCEPT_GENES gt=7 ms Completed: 6 ms rowSize= 1.383 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.140 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
PEOA1 C1834846
Relationships (55)

Relation Types:
diso_​to_​diso : 55


Relationships:
expanded_​form_​of : 1
manifestation_​of : 54
Page Size
Current 25
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Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg ATAXIC GAIT C0751837
DISO_to_DISOmanifestation_ofimg Adult onset C1836537
DISO_to_DISOmanifestation_ofimg Ataxia C0004134
DISO_to_DISOmanifestation_ofimg Axonal sensory neuropathy C1842587
DISO_to_DISOmanifestation_ofimg Blepharoptosis C0005745
DISO_to_DISOmanifestation_ofimg Bradykinesia C0233565
DISO_to_DISOmanifestation_ofimg Cataracts (later onset) C1834861
DISO_to_DISOmanifestation_ofimg Caused by mutations in the DNA polymerase gamma gene (POLG, 174763.0001) C1834863
DISO_to_DISOmanifestation_ofimg Cerebellar Ataxia C0007758
DISO_to_DISOmanifestation_ofimg Chronic progressive external ophthalmoplegia C0162674
DISO_to_DISOmanifestation_ofimg Decreased Reflex C0151888
DISO_to_DISOmanifestation_ofimg Decreased secondary sexual characteristics (in a subset of patients) C1834854
DISO_to_DISOmanifestation_ofimg Deglutition Disorders C0011168
DISO_to_DISOmanifestation_ofimg Depressed mood C0344315
DISO_to_DISOmanifestation_ofimg Distal sensory loss of proprioception and vibration sense C1834857
DISO_to_DISOmanifestation_ofimg Dysarthria C0013362
DISO_to_DISOmanifestation_ofimg EMG shows myopathic changes C1864713
DISO_to_DISOmanifestation_ofimg EXERCISE INTOLERANCE C0241885
DISO_to_DISOmanifestation_ofimg Electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria C1836442
DISO_to_DISOmanifestation_ofimg Facial Paresis C0427055
DISO_to_DISOmanifestation_ofimg Favorable response to levodopa C1846868
DISO_to_DISOmanifestation_ofimg Gastrointestinal pseudoobstruction C1834860
DISO_to_DISOmanifestation_ofimg Gastroparesis C0152020
DISO_to_DISOmanifestation_ofimg Genetic heterogeneity (see PEOA2 609283, PEOA3 609286, and PEOA4 610131) C1834868
DISO_to_DISOmanifestation_ofimg Hearing Loss, Sensorineural C0018784
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanPOLG211232polymerase (DNA directed), gamma 2, accessory subunit
img OMIM, Score=1000, UMLKSK CUI: C1834846
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1834846PEOA10self