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Details
Link-It Detail - Disease - Machado-Joseph Disease
Debug Stats
  • ### Total Build Time: 38 ms 40.867 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 313 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= 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= 559 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 9.296 KB
  • CONCEPT_RELATIONSHIPS gt=25 ms Completed: 25 ms rowSize= 13.396 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 15.614 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Machado-Joseph Disease C0024408
Definition (1)
A very rare, autosomal dominant inherited neurodegenerative disorder. Signs and symptoms include ataxia, spasticity, and abnormalities in the ocular movements.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Spinocerebellar Ataxias C0087012
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Spinocerebellar Ataxias C0087012
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248516img Spinocerebellar Ataxias C0087012
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Spinocerebellar Ataxias C0087012
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Spinocerebellar Ataxias C0087012
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370888img Spinocerebellar Ataxias C0087012
img Nervous System Diseases C0027765img Neurologic Manifestations C00278547img Spinocerebellar Ataxias C0087012
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076828img Spinocerebellar Ataxias C0087012
Relationships (73)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 5
diso_​to_​diso : 60
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 15
alias_​of : 1
is_​associated_​anatomic_​site_​of : 2
isa : 4
manifestation_​of : 50
mapped_​to : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN82img genetic aspects C0017399
DISO_to_PHEN52img genetic aspects C0017399
DISO_to_CHEM46img Nerve Tissue Proteins C0027759
DISO_to_CHEM45img Nuclear Proteins C0028589
DISO_to_CHEM40img Proteins, Repressor C0035147
DISO_to_CHEM26img Nerve Tissue Proteins C0027759
DISO_to_DISO25img Complication Aspects C1171258
DISO_to_DISO20img Complication Aspects C1171258
DISO_to_DISO15img Ataxia, Spinocerebellar C0087012
DISO_to_ANAT11img Brain C0006104
DISO_to_CHEM11img Peptide C0030956
DISO_to_PHYS9img Mutation C0026882
DISO_to_ANAT8img Neurons C0027882
DISO_to_DISO8img Ataxia, Spinocerebellar C0087012
DISO_to_DISO8img Expanded Trinucleotide Repeat C0524894
DISO_to_ANATis_associated_anatomic_site_ofimg Central Nervous System C0927232
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_DISOmanifestation_ofimg Abnormal electrooculogram (EOG) C1862369
DISO_to_DISOmanifestation_ofimg Appendicular Ataxia C0750937
DISO_to_DISOmanifestation_ofimg Ataxia, Truncal C0427190
DISO_to_DISOmanifestation_ofimg Autonomic dysfunction may occur C1862362
DISO_to_DISOisaimg Azorean disease, type I C0686349
DISO_to_DISOisaimg Azorean disease, type II C0686350
DISO_to_DISOisaimg Azorean disease, type III C0686351
DISO_to_DISOisaimg Azorean disease, type IV C0686352
Genes (7)

Species:
human : 7
SpeciesGeneGeneIdGene NameEvidence
HumanVCP7415valosin containing protein
img GENERIF, Score=1000, Pubmed Id: 16525503, UMLKSK CUI: C0024408
HumanATXN8OS6315ATXN8 opposite strand (non-protein coding)
img GENERIF, Score=1000, Pubmed Id: 11697524, UMLKSK CUI: C0024408
HumanATXN76314ataxin 7
img GENERIF, Score=1000, Pubmed Id: 11697524, UMLKSK CUI: C0024408
HumanATXN16310ataxin 1
img GENERIF, Score=1000, Pubmed Id: 16967484, UMLKSK CUI: C0024408
HumanATXN34287ataxin 3
img GENERIF, Score=901, Pubmed Id: 17956866, UMLKSK CUI: C0024408
img GENERIF, Score=1000, Pubmed Id: 14679302, UMLKSK CUI: C0024408
img GENERIF, Score=1000, Pubmed Id: 15316156, UMLKSK CUI: C0024408
img GENERIF, Score=1000, Pubmed Id: 16967484, UMLKSK CUI: C0024408
img GENERIF, Score=1000, Pubmed Id: 17683516, UMLKSK CUI: C0024408
img GENERIF, Score=771, Pubmed Id: 12873751, UMLKSK CUI: C0024408
img GENERIF, Score=771, Pubmed Id: 15140190, UMLKSK CUI: C0024408
img GENERIF, Score=1000, Pubmed Id: 17696782, UMLKSK CUI: C0024408
img GENERIF, Score=710, Pubmed Id: 18449188, UMLKSK CUI: C0024408
img GAD, Score=1000, Pubmed Id: 12166658, UMLKSK CUI: C0024408
img GENERIF, Score=1000, Pubmed Id: 18358414, UMLKSK CUI: C0024408
HumanATN11822atrophin 1
img GENERIF, Score=1000, Pubmed Id: 16967484, UMLKSK CUI: C0024408
HumanCACNA1A773calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
img GENERIF, Score=1000, Pubmed Id: 12542511, UMLKSK CUI: C0024408
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0024408Machado-Joseph Disease0self