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Details
Link-It Detail - Disease - Prion Diseases
Debug Stats
  • ### Total Build Time: 237 ms 39.821 KB
  • CONCEPT_NAME gt=16 ms Completed: 16 ms rowSize= 372 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 745 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=26 ms Completed: 26 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 1,013 bytes
  • CONCEPT_CHILDREN gt=16 ms Completed: 16 ms rowSize= 3.130 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.134 KB
  • CONCEPT_RELATIONSHIPS gt=160 ms Completed: 160 ms rowSize= 14.470 KB
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 14.648 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Prion Diseases C0162534
DEMENTIAS TRANSM
Definition (1)
A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Neurodegenerative Diseases C0524851
img Central Nervous System Infections C0007684
Children (7)
img Creutzfeldt-Jakob Syndrome C0022336
img Kuru C0022802
img Gerstmann-Straussler-Scheinker Disease C0017495
img Insomnia, Fatal Familial C0206042
img Scrapie C0036457
img Encephalopathy, Bovine Spongiform C0085209
img Wasting Disease, Chronic C1135993
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248513img Neurodegenerative Diseases C0524851
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076824img Central Nervous System Infections C0007684
img Bacterial Infections and Mycoses C0004615img Central Nervous System Infections C00076843img Central Nervous System Infections C0007684
Relationships (87)

Relation Types:
diso_​to_​anat : 11
diso_​to_​chem : 26
diso_​to_​diso : 31
diso_​to_​gene : 8
diso_​to_​phen : 3
diso_​to_​phys : 8


Relationships:
none : 50
associated_​with : 1
entry_​version_​of : 1
gene_​is_​element_​in_​pathway : 8
gene_​product_​is_​element_​in_​pathway : 10
is_​associated_​anatomic_​site_​of : 2
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 7
mapped_​to : 1
use : 6
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM390img Prions C0033164
DISO_to_CHEM280img Prions C0033164
DISO_to_PHEN204img genetic aspects C0017399
DISO_to_CHEM129img PRPSC C0074204
DISO_to_PHEN129img genetic aspects C0017399
DISO_to_CHEM102img PRPSC C0074204
DISO_to_CHEM76img PrPC Proteins C0074202
DISO_to_ANAT75img Brain C0006104
DISO_to_ANAT68img Brain C0006104
DISO_to_CHEM56img PrPC Proteins C0074202
DISO_to_ANAT34img Neurons C0027882
DISO_to_DISO30img Creutzfeldt-Jakob Syndrome C0022336
DISO_to_DISO24img Alzheimer Disease C0002395
DISO_to_CHEM23img Amyloid C0002716
DISO_to_DISO23img Encephalopathy, Bovine Spongiform C0085209
DISO_to_PHYS23img Protein Folding C0162847
DISO_to_ANAT22img Neurons C0027882
DISO_to_DISO22img Alzheimer Disease C0002395
DISO_to_CHEM20img Amyloid C0002716
DISO_to_DISO20img Creutzfeldt-Jakob Syndrome C0022336
DISO_to_ANAT18img In Blood C0005768
DISO_to_CHEM17img Antibodies, Monoclonal C0003250
DISO_to_DISO17img Complication Aspects C1171258
DISO_to_DISO17img Rida C0036457
DISO_to_DISO16img Degeneration, Nerve C0027746
Genes (9)

Species:
human : 9
SpeciesGeneGeneIdGene NameEvidence
HumanTARDBP23435TAR DNA binding protein
img GENERIF, Score=734, Pubmed Id: 18657254, UMLKSK CUI: C0162534
HumanYWHAQ10971tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide
img GENERIF, Score=1000, Pubmed Id: 16215457, UMLKSK CUI: C0162534
HumanPTGS25743prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
img GENERIF, Score=734, Pubmed Id: 17678966, UMLKSK CUI: C0162534
HumanPRNP5621prion protein
img GAD, Score=1000, Pubmed Id: 15469448, UMLKSK CUI: C0162534
img GENERIF, Score=1000, Pubmed Id: 12205650, UMLKSK CUI: C0162534
img GENERIF, Score=901, Pubmed Id: 15591591, UMLKSK CUI: C0162534
img GENERIF, Score=901, Pubmed Id: 11593450, UMLKSK CUI: C0162534
img GENERIF, Score=1000, Pubmed Id: 12590162, UMLKSK CUI: C0162534
img GENERIF, Score=1000, Pubmed Id: 18425766, UMLKSK CUI: C0162534
img GENERIF, Score=1000, Pubmed Id: 18038270, UMLKSK CUI: C0162534
img GENERIF, Score=901, Pubmed Id: 18955686, UMLKSK CUI: C0162534
HumanNFKB14790nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
img GENERIF, Score=734, Pubmed Id: 12832450, UMLKSK CUI: C0162534
HumanMAPT4137microtubule-associated protein tau
img GENERIF, Score=1000, Pubmed Id: 12212558, UMLKSK CUI: C0162534
HumanHLA-DQB13119
INFERRED, Score=800, UMLKSK CUI: C0162534
HumanAPP351amyloid beta (A4) precursor protein
img GENERIF, Score=861, Pubmed Id: 17573534, UMLKSK CUI: C0162534
HumanA2M2alpha-2-macroglobulin
img GENERIF, Score=1000, Pubmed Id: 17453620, UMLKSK CUI: C0162534
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0162534Prion Diseases0self