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Details
Link-It Detail - Disease - Cerebellar Ataxia
Debug Stats
  • ### Total Build Time: 336 ms 49.123 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 379 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 577 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=2 ms Completed: 2 ms rowSize= 184 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=16 ms Completed: 16 ms rowSize= 979 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 561 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=26 ms Completed: 26 ms rowSize= 5.343 KB
  • CONCEPT_RELATIONSHIPS gt=207 ms Completed: 207 ms rowSize= 13.389 KB
  • CONCEPT_GENES gt=48 ms Completed: 48 ms rowSize= 26.596 KB
  • CONCEPT_XREFS gt=21 ms Completed: 21 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Cerebellar Ataxia C0007758
ATAXIA CEREBELLAR
Definition (1)
Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)
Semantic Types (1)
Sign or Symptom (T184)
Parents (2)
img Ataxia C0004134
img Cerebellar Diseases C0007760
Children (1)
img Spinocerebellar Ataxias C0087012
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Neurologic Manifestations C00278545img Ataxia C0004134
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370886img Ataxia C0004134
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Ataxia C0004134
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Cerebellar Diseases C0007760
Relationships (82)

Relation Types:
diso_​to_​anat : 8
diso_​to_​chem : 17
diso_​to_​diso : 43
diso_​to_​gene : 2
diso_​to_​phen : 2
diso_​to_​phys : 10


Relationships:
none : 54
isa : 10
mapped_​to : 16
permuted_​term_​of : 1
used_​for : 1
Page Size
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Prior Page
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN129img genetic aspects C0017399
DISO_to_PHEN121img genetic aspects C0017399
DISO_to_ANAT51img Cerebellum C0007765
DISO_to_DISO48img Complication Aspects C1171258
DISO_to_DISO32img Complication Aspects C1171258
DISO_to_ANAT25img Cerebellum C0007765
DISO_to_CHEM20img Abs - Autoantibodies C0004358
DISO_to_CHEM20img Autoantibodies C0004358
DISO_to_DISO19img chemically induced C0007994
DISO_to_PHYS18img Mutation C0026882
DISO_to_CHEM15img Calcium Channel C0006685
DISO_to_PHYS15img Mutation C0026882
DISO_to_ANAT14img Cells, Purkinje C0034143
DISO_to_DISO14img Ocular Motility Disorders C0028850
DISO_to_GENE14img Genes, Recessive C0017361
DISO_to_ANAT12img Brain C0006104
DISO_to_CHEM12img Abs - Autoantibodies C0004358
DISO_to_CHEM11img Glutamate Decarboxylase C0017785
DISO_to_CHEM11img Nerve Tissue Proteins C0027759
DISO_to_DISO11img Tremor C0040822
DISO_to_PHYS11img Genetic Predisposition to Disease C0314657
DISO_to_ANAT10img In Blood C0005768
DISO_to_PHYS9img Movement C0026649
DISO_to_ANAT8img Chromosomes, Human, Pair 16 C0008658
DISO_to_CHEM8img Calcium Channel, P-Type C0752247
Genes (69)

Species:
human : 69
Page Size
Current 25
  Page 1 of 3
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSCA21170545spinocerebellar ataxia 21
INFERRED, Score=800, UMLKSK CUI: C0007758
HumanSCA22140575spinocerebellar ataxia 22
INFERRED, Score=800, UMLKSK CUI: C0007758
HumanSCA19140452spinocerebellar ataxia 19
img GENERIF, Score=660, Pubmed Id: 12384780, UMLKSK CUI: C0007758
HumanDNAJC19131118DnaJ (Hsp40) homolog, subfamily C, member 19
img OMIM, Score=1000, UMLKSK CUI: C0007758
HumanSCA1894008spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy)
INFERRED, Score=800, UMLKSK CUI: C0007758
HumanATCAY85300ataxia, cerebellar, Cayman type
img OMIM, Score=1000, UMLKSK CUI: C0007758
HumanSIL164374SIL1 nucleotide exchange factor
img OMIM, Score=1000, UMLKSK CUI: C0007758
HumanPDSS257107prenyl (decaprenyl) diphosphate synthase, subunit 2
img OMIM, Score=1000, UMLKSK CUI: C0007758
HumanADCK356997aarF domain containing kinase 3
img OMIM, Score=1000, UMLKSK CUI: C0007758
HumanC10orf256652chromosome 10 open reading frame 2
INFERRED, Score=800, UMLKSK CUI: C0007758
HumanTDP155775tyrosyl-DNA phosphodiesterase 1
INFERRED, Score=800, UMLKSK CUI: C0007758
HumanNLRP255655NLR family, pyrin domain containing 2
INFERRED, Score=800, UMLKSK CUI: C0007758
HumanSLC39A455630solute carrier family 39 (zinc transporter), member 4
img OMIM, Score=1000, UMLKSK CUI: C0007758
HumanAPTX54840aprataxin
img OMIM, Score=1000, UMLKSK CUI: C0007758
img OMIM, Score=1000, UMLKSK CUI: C0007758
HumanCOQ227235coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0007758
HumanPLEKHG425894pleckstrin homology domain containing, family G (with RhoGef domain) member 4
img GENERIF, Score=861, Pubmed Id: 15455264, UMLKSK CUI: C0007758
img OMIM, Score=1000, UMLKSK CUI: C0007758
img GENERIF, Score=840, Pubmed Id: 17611710, UMLKSK CUI: C0007758
img OMIM, Score=1000, UMLKSK CUI: C0007758
img GENERIF, Score=1000, Pubmed Id: 16491300, UMLKSK CUI: C0007758
HumanATXN1025814ataxin 10
img OMIM, Score=1000, UMLKSK CUI: C0007758
HumanPDSS123590prenyl (decaprenyl) diphosphate synthase, subunit 1
img OMIM, Score=1000, UMLKSK CUI: C0007758
HumanSYNE123345spectrin repeat containing, nuclear envelope 1
img GENERIF, Score=901, Pubmed Id: 17159980, UMLKSK CUI: C0007758
HumanSETX23064senataxin
img GENERIF, Score=861, Pubmed Id: 18405395, UMLKSK CUI: C0007758
img GENERIF, Score=1000, Pubmed Id: 17096168, UMLKSK CUI: C0007758
HumanRPIA22934ribose 5-phosphate isomerase A
img OMIM, Score=1000, UMLKSK CUI: C0007758
HumanNPC210577Niemann-Pick disease, type C2
img OMIM, Score=1000, UMLKSK CUI: C0007758
HumanPLA2G68398phospholipase A2, group VI (cytosolic, calcium-independent)
img OMIM, Score=1000, UMLKSK CUI: C0007758
HumanZNF1487707zinc finger protein 148
INFERRED, Score=800, UMLKSK CUI: C0007758
HumanVLDLR7436very low density lipoprotein receptor
img GENERIF, Score=1000, Pubmed Id: 18364738, UMLKSK CUI: C0007758
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0007758Cerebellar Ataxia0self