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Details
Link-It Detail - Disease - SPINOCEREBELLAR ATAXIA 15
Debug Stats
  • ### Total Build Time: 32 ms 13.409 KB
  • CONCEPT_NAME gt=13 ms Completed: 13 ms rowSize= 348 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=16 ms Completed: 16 ms rowSize= 8.416 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 3.424 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
SPINOCEREBELLAR ATAXIA 15 C1847725
Relationships (20)

Relation Types:
diso_​to_​diso : 20


Relationships:
expanded_​form_​of : 1
manifestation_​of : 18
related_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg ATAXIA CEREBELLAR C0007758
DISO_to_DISOmanifestation_ofimg ATAXIC GAIT C0751837
DISO_to_DISOmanifestation_ofimg Action tremor ICD10CM:G25.2 C3278531
DISO_to_DISOmanifestation_ofimg Appendicular Ataxia C0750937
DISO_to_DISOmanifestation_ofimg Ataxia, Truncal C0427190
DISO_to_DISOmanifestation_ofimg Caused by mutation in the inositol 1,4,5-triphosphate receptor, type 1 gene (ITPR1, 147265) C2751352
DISO_to_DISOmanifestation_ofimg Cerebellar atrophy C0740279
DISO_to_DISOmanifestation_ofimg Dysarthria C0013362
DISO_to_DISOmanifestation_ofimg Dysmetric saccades C1836392
DISO_to_DISOmanifestation_ofimg Gaze-evoked horizontal nystagmus C1853394
DISO_to_DISOmanifestation_ofimg Genetic heterogeneity, see SCA1 (164400) C1847729
DISO_to_DISOmanifestation_ofimg Hyperreflexia C0151889
DISO_to_DISOmanifestation_ofimg Impaired smooth pursuit C1837458
DISO_to_DISOmanifestation_ofimg Most patients remain ambulatory C1847728
DISO_to_DISOmanifestation_ofimg Postural tremor C0234378
DISO_to_DISOrelated_toimg SCA16, FORMERLY C2676005
DISO_to_DISOexpanded_form_ofimg SPINOCEREBELLAR ATAXIA 15 C1847725
DISO_to_DISOmanifestation_ofimg Scanning speech C0278184
DISO_to_DISOmanifestation_ofimg Very slow progression C1847727
DISO_to_DISOmanifestation_ofimg Wide range of onset from childhood to adult (10 to 50 years) C2751353
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanSUMF1285362sulfatase modifying factor 1
img GENERIF, Score=923, Pubmed Id: 18579805, UMLKSK CUI: C1847725
HumanITPR13708inositol 1,4,5-trisphosphate receptor, type 1
img GENERIF, Score=1000, Pubmed Id: 17590087, UMLKSK CUI: C1847725
img GENERIF, Score=923, Pubmed Id: 12828938, UMLKSK CUI: C1847725
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1847725SPINOCEREBELLAR ATAXIA 150self