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Details
Link-It Detail - Disease - Cerebellar Diseases
Debug Stats
  • ### Total Build Time: 60 ms 37.943 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 390 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 323 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 550 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 2.712 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.516 KB
  • CONCEPT_RELATIONSHIPS gt=35 ms Completed: 35 ms rowSize= 13.262 KB
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 17.856 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Cerebellar Diseases C0007760
CEREBELLAR ABNORMALITIES
Definition (1)
Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Brain Diseases C0006111
Children (6)
img Spinocerebellar Degenerations C0037952
img Dandy-Walker Syndrome C0010964
img Cerebellar Neoplasms C0007762
img Paraneoplastic Cerebellar Degeneration C0393534
img Cerebellar Ataxia C0007758
img Miller Fisher Syndrome C0393799
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076824img Brain Diseases C0006111
Relationships (120)

Relation Types:
diso_​to_​anat : 11
diso_​to_​chem : 1
diso_​to_​diso : 99
diso_​to_​phen : 2
diso_​to_​phys : 7


Relationships:
none : 74
isa : 27
mapped_​to : 12
related_​to : 7
Page Size
Current 25
  Page 1 of 5
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO148img Complication Aspects C1171258
DISO_to_ANAT137img Cerebellum C0007765
DISO_to_DISO100img Complication Aspects C1171258
DISO_to_ANAT80img Cerebellum C0007765
DISO_to_PHEN75img genetic aspects C0017399
DISO_to_DISO37img chemically induced C0007994
DISO_to_DISO35img Brain Infarction C0751955
DISO_to_DISO33img Cognition Disorders C0009241
DISO_to_DISO30img Cystic Kidney Diseases C1691228
DISO_to_ANAT29img Cerebellopontine Angle C0007764
DISO_to_DISO29img Abnormalities, Eye C0015393
DISO_to_ANAT27img Cerebellopontine Angle C0007764
DISO_to_PHEN27img genetic aspects C0017399
DISO_to_DISO23img BLEEDING INTRACRANIAL C0151699
DISO_to_DISO22img Brain Infarction C0751955
DISO_to_DISO21img Cerebrovascular accident C0038454
DISO_to_DISO20img Cerebral Hemorrhage C2937358
DISO_to_DISO18img Brain Abscess C0006105
DISO_to_DISO18img Epidermal Cyst C0014511
DISO_to_DISO17img Brain Abscess C0006105
DISO_to_DISO17img Cerebral Infarction C0007785
DISO_to_DISO16img ANEURYSM INTRACRANIAL C0007766
DISO_to_DISO16img Cerebrovascular accident C0038454
DISO_to_DISO15img chemically induced C0007994
DISO_to_DISO14img CEREBELLAR NEOPL C0007762
Genes (95)

Species:
human : 95
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSCA21170545spinocerebellar ataxia 21
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanTTBK2146057tau tubulin kinase 2
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanSCA22140575spinocerebellar ataxia 22
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanSCA19140452spinocerebellar ataxia 19
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanEVC2132884Ellis van Creveld syndrome 2
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanDNAJC19131118DnaJ (Hsp40) homolog, subfamily C, member 19
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanFTMT94033ferritin mitochondrial
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanSCA1894008spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy)
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanATCAY85300ataxia, cerebellar, Cayman type
img OMIM, Score=882, UMLKSK CUI: C0007760
HumanZIC484107Zic family member 4
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanFKRP79147fukutin related protein
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanSIL164374SIL1 nucleotide exchange factor
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanPDSS257107prenyl (decaprenyl) diphosphate synthase, subunit 2
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanADCK356997aarF domain containing kinase 3
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanC10orf256652chromosome 10 open reading frame 2
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanTDP155775tyrosyl-DNA phosphodiesterase 1
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanNLRP255655NLR family, pyrin domain containing 2
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanSLC39A455630solute carrier family 39 (zinc transporter), member 4
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanMKS154903Meckel syndrome, type 1
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanAPTX54840aprataxin
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanSOX830812SRY (sex determining region Y)-box 8
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanPOMT229954protein-O-mannosyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanCOQ227235coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanPLEKHG425894pleckstrin homology domain containing, family G (with RhoGef domain) member 4
INFERRED, Score=800, UMLKSK CUI: C0007760
HumanATXN1025814ataxin 10
INFERRED, Score=800, UMLKSK CUI: C0007760
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0007760Cerebellar Diseases0self