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Details
Link-It Detail - Disease - PEOA2
Debug Stats
  • ### Total Build Time: 63 ms 11.653 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 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=38 ms Completed: 38 ms rowSize= 7.809 KB
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 2.334 KB
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.140 KB
  • CONCEPT_ANCILLARY gt=2 ms Completed: 2 ms rowSize= 14 bytes
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Disease (1)
PEOA2 C1836460
Relationships (18)

Relation Types:
diso_​to_​diso : 18


Relationships:
expanded_​form_​of : 1
manifestation_​of : 17
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Adult onset (before 50 years) C1836465
DISO_to_DISOmanifestation_ofimg Blepharoptosis C0005745
DISO_to_DISOmanifestation_ofimg Caused by mutation in the solute carrier family 25 (mitochondrial carrier) member 4 gene (SLC25A4, 103220.0001) C2750419
DISO_to_DISOmanifestation_ofimg Chronic progressive external ophthalmoplegia C0162674
DISO_to_DISOmanifestation_ofimg EMG shows myopathic changes C1864713
DISO_to_DISOmanifestation_ofimg Electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria C1836442
DISO_to_DISOmanifestation_ofimg Exercise intolerance (less common) C1836463
DISO_to_DISOmanifestation_ofimg Facial Paresis C0427055
DISO_to_DISOmanifestation_ofimg Generalized muscle weakness (less common) C1836462
DISO_to_DISOmanifestation_ofimg Genetic heterogeneity (see 157640) C1836445
DISO_to_DISOmanifestation_ofimg Muscle biopsy shows decreased activity of cytochrome c oxidase C1858428
DISO_to_DISOmanifestation_ofimg Muscle biopsy shows multiple mitochondrial DNA (mtDNA) deletions C1836441
DISO_to_DISOmanifestation_ofimg Muscle biopsy shows ragged red fibers C1843924
DISO_to_DISOexpanded_form_ofimg PEOA2 C1836460
DISO_to_DISOmanifestation_ofimg Progressive disorder C1864985
DISO_to_DISOmanifestation_ofimg SLC25A4 mutations account for approximately 4% of all PEO cases C1836466
DISO_to_DISOmanifestation_ofimg Sensorineural hearing loss has been reported C1836467
DISO_to_DISOmanifestation_ofimg Serum lactate is usually normal C1836461
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanPOLG5428polymerase (DNA directed), gamma
img OMIM, Score=833, UMLKSK CUI: C1836460
HumanSLC25A4291solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
img OMIM, Score=833, UMLKSK CUI: C1836460
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1836460PEOA20self