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Details
Link-It Detail - Disease - PEOA3
Debug Stats
  • ### Total Build Time: 115 ms 15.998 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 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=1 ms Completed: 1 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=101 ms Completed: 101 ms rowSize= 12.147 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 2.340 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.140 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
PEOA3 C1836439
Relationships (44)

Relation Types:
diso_​to_​diso : 44


Relationships:
alias_​of : 1
manifestation_​of : 43
Page Size
Current 25
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Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg AVOIDANT PERSONALITY DIS C0004444
DISO_to_DISOmanifestation_ofimg Adult onset (20 to 40 years) C3277383
DISO_to_DISOmanifestation_ofimg Arrhythmias (less common) C3277381
DISO_to_DISOmanifestation_ofimg Ataxia, Sensory C0240991
DISO_to_DISOmanifestation_ofimg Axonal sensory neuropathy (less common) C3277375
DISO_to_DISOmanifestation_ofimg Blepharoptosis C0005745
DISO_to_DISOmanifestation_ofimg Bradycardia (less common) C3277380
DISO_to_DISOmanifestation_ofimg Brain atrophy C0235946
DISO_to_DISOmanifestation_ofimg C10ORF2 mutations account for approximately 35% of all PEO cases C1836446
DISO_to_DISOmanifestation_ofimg Cardiomyopathy (less common) C1836168
DISO_to_DISOmanifestation_ofimg Cataracts (less common) C1843868
DISO_to_DISOmanifestation_ofimg Caused by mutation in the TWINKLE gene (C10ORF2, 606075.0001) C2674968
DISO_to_DISOmanifestation_ofimg Chronic progressive external ophthalmoplegia C0162674
DISO_to_DISOmanifestation_ofimg Decreased activity of cytochrome c oxidase C1857357
DISO_to_DISOmanifestation_ofimg Dementia (later onset) C1848565
DISO_to_DISOmanifestation_ofimg Depressed mood C0344315
DISO_to_DISOmanifestation_ofimg Diabetes mellitus (less common) C3277369
DISO_to_DISOmanifestation_ofimg Dysarthria (less common) C3277374
DISO_to_DISOmanifestation_ofimg Dysphagia, late-onset C3277378
DISO_to_DISOmanifestation_ofimg Dysphonia, late-onset C3277382
DISO_to_DISOmanifestation_ofimg EMG shows myopathic changes C1864713
DISO_to_DISOmanifestation_ofimg EXERCISE INTOLERANCE C0241885
DISO_to_DISOmanifestation_ofimg Early onset has rarely been reported C3277384
DISO_to_DISOmanifestation_ofimg Fatigue C0015672
DISO_to_DISOmanifestation_ofimg Gait difficulties, late-onset C3277373
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanPOLG5428polymerase (DNA directed), gamma
img OMIM, Score=833, UMLKSK CUI: C1836439
HumanSLC25A4291solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
img OMIM, Score=833, UMLKSK CUI: C1836439
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1836439PEOA30self