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Details
Link-It Detail - Disease - DYSTONIA 11
Debug Stats
  • ### Total Build Time: 116 ms 12.675 KB
  • CONCEPT_NAME gt=12 ms Completed: 12 ms rowSize= 320 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=74 ms Completed: 74 ms rowSize= 8.013 KB
  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 3.134 KB
  • CONCEPT_XREFS gt=11 ms Completed: 11 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
DYSTONIA 11 C1834570
Relationships (18)

Relation Types:
diso_​to_​diso : 17
diso_​to_​phys : 1


Relationships:
expanded_​form_​of : 1
manifestation_​of : 17
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Agoraphobia C0001818
DISO_to_DISOmanifestation_ofimg Attack, Panic C0086769
DISO_to_DISOmanifestation_ofimg Caused by mutation in the epsilon-sarcoglycan gene (SGCE, 604149.0001) C2674771
DISO_to_DISOexpanded_form_ofimg DYSTONIA 11 C1834570
DISO_to_DISOmanifestation_ofimg Depressed mood C0344315
DISO_to_DISOmanifestation_ofimg Dystonia (may spontaneously remit in childhood or adolescence) C2674769
DISO_to_DISOmanifestation_ofimg Hypotonia (rare) C2674770
DISO_to_DISOmanifestation_ofimg Maternal imprinting of SGCE results in reduced penetrance of the disorder when the mutation is inherited from the mother C1834577
DISO_to_DISOmanifestation_ofimg Myoclonus, axial (predominantly in upper limbs, occurs at rest and increases with activity or changes in posture) C2674767
DISO_to_DISOmanifestation_ofimg Obsessive-Compulsive Disorder C0028768
DISO_to_DISOmanifestation_ofimg Onset in childhood or adolescence (mean age of 6 years, range 1 to 18) C2674772
DISO_to_DISOmanifestation_ofimg Organic writer's cramp C0154676
DISO_to_DISOmanifestation_ofimg Subcortical origin of the myoclonus based on neurophysiologic studies C2674768
DISO_to_DISOmanifestation_ofimg Symptoms are often responsive to alcohol C1834576
DISO_to_DISOmanifestation_ofimg Torticollis C0040485
DISO_to_DISOmanifestation_ofimg Tremor C0040822
DISO_to_DISOmanifestation_ofimg Variable pattern of body involvement although symptoms may predominate in upper or lower body C2674773
DISO_to_PHYSmanifestation_ofimg Anxiety C0003467
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanSGCE8910sarcoglycan, epsilon
Click here to display 17 evidence detail records.
HumanGCH12643GTP cyclohydrolase 1
img GENERIF, Score=884, Pubmed Id: 12391354, UMLKSK CUI: C1834570
HumanDRD21813dopamine receptor D2
img GAD, Score=964, Pubmed Id: 10220438, UMLKSK CUI: C1834570
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1834570DYSTONIA 110self