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Details
Link-It Detail - Disease - DYSTONIA 3, TORSION, X-LINKED
Debug Stats
  • ### Total Build Time: 43 ms 10.567 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 356 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=27 ms Completed: 27 ms rowSize= 6.449 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 2.537 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.163 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Disease (1)
DYSTONIA 3, TORSION, X-LINKED C1839130
Relationships (14)

Relation Types:
diso_​to_​diso : 14


Relationships:
alias_​of : 1
inheritance_​type_​of : 1
manifestation_​of : 12
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Associated with a disease-specific sequence change, referred to as 'DSC3,' within an open-reading frame (ORF) of a 'multiple transcript system' known as DYT3 C1839139
DISO_to_DISOmanifestation_ofimg Chorea C0008489
DISO_to_DISOmanifestation_ofimg Chorea-ballism C1839132
DISO_to_DISOalias_ofimg DYSTONIA 3, TORSION, X-LINKED C1839130
DISO_to_DISOmanifestation_ofimg Described predominantly in families from the Philippines C1839136
DISO_to_DISOmanifestation_ofimg Disorder characterised by myoclonus C0027066
DISO_to_DISOmanifestation_ofimg Dystonia Musculorum Deformans C0013423
DISO_to_DISOmanifestation_ofimg Focal tremor C1839131
DISO_to_DISOmanifestation_ofimg Onset in fourth decade C1839135
DISO_to_DISOmanifestation_ofimg Parkinsonism, levodopa-responsive (occurs at later stages, may replace dystonia symptoms) C1839133
DISO_to_DISOmanifestation_ofimg Spasmodic eye blinking C1839134
DISO_to_DISOmanifestation_ofimg Symptoms begin focally, later segmental or generalized C1839137
DISO_to_DISOmanifestation_ofimg Women may be mildly affected C1839138
DISO_to_DISOinheritance_type_ofimg X- linked recessive C1845977
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanTAF16872TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
img GENERIF, Score=1000, Pubmed Id: 17273961, UMLKSK CUI: C1839130
HumanDYT31863
img GENERIF, Score=924, Pubmed Id: 16366515, UMLKSK CUI: C1839130
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1839130DYSTONIA 3, TORSION, X-LINKED0self