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Details
Link-It Detail - Disease - Ataxia
Debug Stats
  • ### Total Build Time: 96 ms 44.907 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= 640 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= 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=3 ms Completed: 3 ms rowSize= 984 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.071 KB
  • CONCEPT_RELATIONSHIPS gt=51 ms Completed: 51 ms rowSize= 13.716 KB
  • CONCEPT_GENES gt=27 ms Completed: 27 ms rowSize= 23.350 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.141 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Ataxia C0004134
Definition (1)
Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.
Semantic Types (1)
Sign or Symptom (T184)
Parents (1)
img Dyskinesias C0013384
Children (2)
img Gait Ataxia C0751837
img Cerebellar Ataxia C0007758
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 (116)

Relation Types:
diso_​to_​anat : 9
diso_​to_​chem : 15
diso_​to_​diso : 79
diso_​to_​phen : 2
diso_​to_​phys : 11


Relationships:
none : 74
associated_​with : 3
is_​associated_​anatomic_​site_​of : 2
isa : 13
mapped_​to : 23
permuted_​term_​of : 1
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN233img genetic aspects C0017399
DISO_to_PHEN167img genetic aspects C0017399
DISO_to_DISO111img Complication Aspects C1171258
DISO_to_DISO60img Tremor C0040822
DISO_to_DISO50img Complication Aspects C1171258
DISO_to_DISO50img FRAGILE X MENTAL RETARDATION SYNDROME C0016667
DISO_to_DISO50img Fragile X Syndrome C0016667
DISO_to_PHYS43img Mutation C0026882
DISO_to_DISO38img chemically induced C0007994
DISO_to_DISO34img chemically induced C0007994
DISO_to_CHEM31img Fragile X Mental Retardation Protein C0118036
DISO_to_ANAT30img Cerebellum C0007765
DISO_to_DISO27img Tremor C0040822
DISO_to_PHYS27img Performance, Psychomotor C0033923
DISO_to_CHEM23img Nerve Tissue Proteins C0027759
DISO_to_DISO23img FRAGILE X MENTAL RETARDATION SYNDROME C0016667
DISO_to_PHYS22img Mutation C0026882
DISO_to_PHYS21img Performance, Psychomotor C0033923
DISO_to_CHEM20img Calcium Channel C0006685
DISO_to_ANAT19img Cerebellum C0007765
DISO_to_ANAT17img Brain C0006104
DISO_to_DISO16img Intellectual Disability C0025362
DISO_to_PHYS15img Balance, Postural C1256755
DISO_to_CHEM14img Nerve Tissue Proteins C0027759
DISO_to_PHYS14img Missense Mutation C0599155
Genes (210)

Species:
human : 210
Page Size
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SpeciesGeneGeneIdGene NameEvidence
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
img OMIM, Score=1000, UMLKSK CUI: C0004134
HumanMFSD8256471major facilitator superfamily domain containing 8
img OMIM, Score=1000, UMLKSK CUI: C0004134
HumanSCA21170545spinocerebellar ataxia 21
INFERRED, Score=800, UMLKSK CUI: C0004134
HumanBBS12166379Bardet-Biedl syndrome 12
img OMIM, Score=1000, UMLKSK CUI: C0004134
HumanSCA22140575spinocerebellar ataxia 22
INFERRED, Score=800, UMLKSK CUI: C0004134
HumanSCA19140452spinocerebellar ataxia 19
INFERRED, Score=800, UMLKSK CUI: C0004134
HumanC8orf38137682
img OMIM, Score=1000, UMLKSK CUI: C0004134
HumanDNAJC19131118DnaJ (Hsp40) homolog, subfamily C, member 19
img GENERIF, Score=812, Pubmed Id: 16055927, UMLKSK CUI: C0004134
HumanBBS5129880Bardet-Biedl syndrome 5
img OMIM, Score=1000, UMLKSK CUI: C0004134
HumanTTC8123016tetratricopeptide repeat domain 8
img OMIM, Score=1000, UMLKSK CUI: C0004134
HumanSCA1894008spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy)
INFERRED, Score=800, UMLKSK CUI: C0004134
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
img OMIM, Score=1000, UMLKSK CUI: C0004134
HumanTMEM6791147transmembrane protein 67
img OMIM, Score=1000, UMLKSK CUI: C0004134
HumanATCAY85300ataxia, cerebellar, Cayman type
INFERRED, Score=800, UMLKSK CUI: C0004134
HumanARL684100ADP-ribosylation factor-like 6
img OMIM, Score=1000, UMLKSK CUI: C0004134
HumanOPA380207optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
img OMIM, Score=1000, UMLKSK CUI: C0004134
HumanCEP29080184centrosomal protein 290kDa
img OMIM, Score=1000, UMLKSK CUI: C0004134
HumanPANK280025pantothenate kinase 2
img OMIM, Score=1000, UMLKSK CUI: C0004134
HumanBBS1079738Bardet-Biedl syndrome 10
img OMIM, Score=1000, UMLKSK CUI: C0004134
HumanC20orf779133
img OMIM, Score=1000, UMLKSK CUI: C0004134
HumanSIL164374SIL1 nucleotide exchange factor
INFERRED, Score=800, UMLKSK CUI: C0004134
HumanGJC257165gap junction protein, gamma 2, 47kDa
img OMIM, Score=1000, UMLKSK CUI: C0004134
HumanPDSS257107prenyl (decaprenyl) diphosphate synthase, subunit 2
INFERRED, Score=800, UMLKSK CUI: C0004134
HumanADCK356997aarF domain containing kinase 3
img GENERIF, Score=861, Pubmed Id: 18319074, UMLKSK CUI: C0004134
HumanC10orf256652chromosome 10 open reading frame 2
img OMIM, Score=1000, UMLKSK CUI: C0004134
img OMIM, Score=666, UMLKSK CUI: C0004134
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0004134Ataxia0self