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Details
Link-It Detail - Disease - GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT
Debug Stats
  • ### Total Build Time: 40 ms 9.801 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 384 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=26 ms Completed: 26 ms rowSize= 6.824 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 1.354 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.177 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT C1864695
Relationships (16)

Relation Types:
diso_​to_​diso : 16


Relationships:
manifestation_​of : 16
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Absent reflex C0234146
DISO_to_DISOmanifestation_ofimg Cardiomyopathy (reported in 1 family) C1864702
DISO_to_DISOmanifestation_ofimg Decreased Reflex C0151888
DISO_to_DISOmanifestation_ofimg Distal limb muscle atrophy due to peripheral neuropathy C1864697
DISO_to_DISOmanifestation_ofimg Distal limb muscle weakness due to peripheral neuropathy C1864696
DISO_to_DISOmanifestation_ofimg Distal sensory loss of tactile and vibratory senses C1864698
DISO_to_DISOmanifestation_ofimg EMG shows chronic denervation C1864699
DISO_to_DISOmanifestation_ofimg Foot deformities are present in infancy or childhood C1864703
DISO_to_DISOmanifestation_ofimg Gait, Drop Foot C0427149
DISO_to_DISOmanifestation_ofimg Hammer Toe C1136179
DISO_to_DISOmanifestation_ofimg Neurologic features occur in adulthood C1864704
DISO_to_DISOmanifestation_ofimg Normal or mildly decreased motor nerve conduction velocities (NCV) C1838201
DISO_to_DISOmanifestation_ofimg See also autosomal recessive giant axonal neuropathy (256850) C1864705
DISO_to_DISOmanifestation_ofimg Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation C1864700
DISO_to_DISOmanifestation_ofimg Sural nerve biopsy shows occasional onion bulb formations C1864701
DISO_to_DISOmanifestation_ofimg Talipes cavus C0039273
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanGAN8139gigaxonin
img OMIM, Score=938, UMLKSK CUI: C1864695
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1864695GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT0self