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Details
Link-It Detail - Disease - SCA12
Debug Stats
  • ### Total Build Time: 8 ms 12.661 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 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=5 ms Completed: 5 ms rowSize= 9.515 KB
  • CONCEPT_GENES gt=1 ms Completed: 1 ms rowSize= 1.636 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.140 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
SCA12 C1858501
Relationships (23)

Relation Types:
diso_​to_​diso : 22
diso_​to_​phys : 1


Relationships:
expanded_​form_​of : 1
manifestation_​of : 22
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Age at onset 8 to 55 years (mean 40 years) C3148820
DISO_to_DISOmanifestation_ofimg Axial dystonia C1836149
DISO_to_DISOmanifestation_ofimg Brain atrophy C0235946
DISO_to_DISOmanifestation_ofimg Caused by expanded CAG trinucleotide repeats in the beta subunit of the protein phosphatase 2 gene (PPP2R2B, 604325.0001) C3148819
DISO_to_DISOmanifestation_ofimg Cerebellar Dysmetria C0234162
DISO_to_DISOmanifestation_ofimg Cerebellar ataxia, progressive C0393525
DISO_to_DISOmanifestation_ofimg Cerebellar atrophy C0740279
DISO_to_DISOmanifestation_ofimg DYSDIADOCHOKINESIA C0234979
DISO_to_DISOmanifestation_ofimg Delusions C0011253
DISO_to_DISOmanifestation_ofimg Dementia C0497327
DISO_to_DISOmanifestation_ofimg Depressed mood C0344315
DISO_to_DISOmanifestation_ofimg Dysarthria C0013362
DISO_to_DISOmanifestation_ofimg Facial Myokymia C0270871
DISO_to_DISOmanifestation_ofimg HEAD TREMOR C0239882
DISO_to_DISOmanifestation_ofimg Hyperreflexia C0151889
DISO_to_DISOmanifestation_ofimg Normal CAG repeat length is 7 to 32 triplets C3148821
DISO_to_DISOmanifestation_ofimg Ocular movement abnormalities C1858502
DISO_to_DISOmanifestation_ofimg Parkinsonian Disorders C0242422
DISO_to_DISOmanifestation_ofimg Pathogenic CAG repeat length is 51 to 78 triplets C3148822
DISO_to_DISOexpanded_form_ofimg SCA12 C1858501
DISO_to_DISOmanifestation_ofimg Subclinical sensory or sensorimotor neuropathy C3148818
DISO_to_DISOmanifestation_ofimg Upper extremity action tremor C3148817
DISO_to_PHYSmanifestation_ofimg Anxiety C0003467
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanPPP2R2B5521protein phosphatase 2, regulatory subunit B, beta
img GENERIF, Score=1000, Pubmed Id: 18973067, UMLKSK CUI: C1858501
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1858501SCA120self