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Details
Link-It Detail - Disease - Chorea
Debug Stats
  • ### Total Build Time: 255 ms 39.912 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 310 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 341 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= 184 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 547 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 1.396 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.071 KB
  • CONCEPT_RELATIONSHIPS gt=28 ms Completed: 28 ms rowSize= 12.932 KB
  • CONCEPT_GENES gt=214 ms Completed: 214 ms rowSize= 18.996 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.141 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Chorea C0008489
Definition (1)
A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease.
Semantic Types (1)
Sign or Symptom (T184)
Parents (1)
img Dyskinesias C0013384
Children (3)
img Chorea Gravidarum C0264746
img Neuroacanthocytosis C0393576
img Huntington Disease C0020179
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370885img Dyskinesias C0013384
img Nervous System Diseases C0027765img Neurologic Manifestations C00278544img Dyskinesias C0013384
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Dyskinesias C0013384
Relationships (56)

Relation Types:
diso_​to_​anat : 7
diso_​to_​chem : 10
diso_​to_​diso : 33
diso_​to_​phen : 2
diso_​to_​phys : 4


Relationships:
none : 46
associated_​with : 3
isa : 2
mapped_​to : 4
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN89img genetic aspects C0017399
DISO_to_PHEN88img genetic aspects C0017399
DISO_to_DISO80img Complication Aspects C1171258
DISO_to_DISO55img Complication Aspects C1171258
DISO_to_DISO41img Athetosis C0004158
DISO_to_DISO35img chemically induced C0007994
DISO_to_DISO32img chemically induced C0007994
DISO_to_DISO28img Athetosis C0004158
DISO_to_ANAT21img Brain C0006104
DISO_to_DISO20img Dyskinesias C0013384
DISO_to_DISO19img Hyperglycemia C0020456
DISO_to_CHEM17img Anticonvulsants C0003286
DISO_to_ANAT16img Brain C0006104
DISO_to_DISO16img Rheumatic Fever C0035436
DISO_to_PHYS16img Mutation C0026882
DISO_to_ANAT14img In Blood C0005768
DISO_to_DISO14img Dyskinesias C0013384
DISO_to_DISO14img Dystonia C0013421
DISO_to_DISO14img Huntington Disease C0020179
DISO_to_PHYS14img Mutation C0026882
DISO_to_ANAT13img Basal Ganglia C0004781
DISO_to_CHEM13img Anticonvulsants C0003286
DISO_to_DISO13img Huntington Disease C0020179
DISO_to_DISO13img Obsessive-Compulsive Disorder C0028768
DISO_to_DISO13img Rheumatic Fever C0035436
Genes (65)

Species:
human : 65
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanFASA100192455fertility associated sperm antigen
INFERRED, Score=800, UMLKSK CUI: C0008489
HumanSTH246744saitohin
INFERRED, Score=800, UMLKSK CUI: C0008489
HumanGSTO2119391glutathione S-transferase omega 2
INFERRED, Score=800, UMLKSK CUI: C0008489
HumanCARD16114769caspase recruitment domain family, member 16
INFERRED, Score=800, UMLKSK CUI: C0008489
HumanNLRP3114548NLR family, pyrin domain containing 3
INFERRED, Score=800, UMLKSK CUI: C0008489
HumanOPA380207optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
img OMIM, Score=1000, UMLKSK CUI: C0008489
HumanJPH357338junctophilin 3
img OMIM, Score=1000, UMLKSK CUI: C0008489
HumanPRPF40A55660PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)
INFERRED, Score=800, UMLKSK CUI: C0008489
HumanGHRL51738ghrelin/obestatin prepropeptide
INFERRED, Score=800, UMLKSK CUI: C0008489
HumanGIT128964G protein-coupled receptor kinase interacting ArfGAP 1
INFERRED, Score=800, UMLKSK CUI: C0008489
HumanTARDBP23435TAR DNA binding protein
INFERRED, Score=800, UMLKSK CUI: C0008489
HumanVPS13A23230vacuolar protein sorting 13 homolog A (S. cerevisiae)
INFERRED, Score=800, UMLKSK CUI: C0008489
HumanSETX23064senataxin
img OMIM, Score=1000, UMLKSK CUI: C0008489
HumanNLRP122861NLR family, pyrin domain containing 1
INFERRED, Score=800, UMLKSK CUI: C0008489
HumanTPPP11076tubulin polymerization promoting protein
INFERRED, Score=800, UMLKSK CUI: C0008489
HumanTCERG110915transcription elongation regulator 1
INFERRED, Score=800, UMLKSK CUI: C0008489
HumanPPARGC1A10891peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
INFERRED, Score=800, UMLKSK CUI: C0008489
HumanSETDB19869SET domain, bifurcated 1
INFERRED, Score=800, UMLKSK CUI: C0008489
HumanGSTO19446glutathione S-transferase omega 1
INFERRED, Score=800, UMLKSK CUI: C0008489
HumanTRIP109322thyroid hormone receptor interactor 10
INFERRED, Score=800, UMLKSK CUI: C0008489
HumanCTDP19150CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
img OMIM, Score=1000, UMLKSK CUI: C0008489
HumanPLA2G68398phospholipase A2, group VI (cytosolic, calcium-independent)
img OMIM, Score=1000, UMLKSK CUI: C0008489
HumanUCHL17345ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
INFERRED, Score=800, UMLKSK CUI: C0008489
HumanNKX2-17080
img OMIM, Score=1000, UMLKSK CUI: C0008489
HumanTIMP27077TIMP metallopeptidase inhibitor 2
INFERRED, Score=800, UMLKSK CUI: C0008489
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0008489Chorea0self