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Details
Link-It Detail - Disease - Frontotemporal Lobar Degeneration
Debug Stats
  • ### Total Build Time: 134 ms 34.521 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 364 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 620 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= 201 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=16 ms Completed: 16 ms rowSize= 984 bytes
  • CONCEPT_CHILDREN gt=10 ms Completed: 10 ms rowSize= 1,016 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=48 ms Completed: 48 ms rowSize= 5.368 KB
  • CONCEPT_RELATIONSHIPS gt=27 ms Completed: 27 ms rowSize= 5.844 KB
  • CONCEPT_GENES gt=19 ms Completed: 19 ms rowSize= 19.004 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.167 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Frontotemporal Lobar Degeneration C0751072
Definition (1)
Heterogeneous group of neurodegenerative disorders characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Multiple subtypes or forms are recognized based on presence or absence of TAU PROTEIN inclusions. FTLD includes three clinical syndromes: FRONTOTEMPORAL DEMENTIA, semantic dementia, and PRIMARY PROGRESSIVE NONFLUENT APHASIA.
Semantic Types (1)
Mental or Behavioral Dysfunction (T048)
Parents (2)
img TDP-43 Proteinopathies C2718017
img Dementia C0497327
Children (2)
img Primary Progressive Nonfluent Aphasia C0751706
img Frontotemporal Dementia C0338451
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img TDP-43 Proteinopathies C2718017
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248514img TDP-43 Proteinopathies C2718017
img Mental Disorders C0004936img Delirium, Dementia, Amnestic, Cognitive Disorders C00292274img Dementia C0497327
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Dementia C0497327
Relationships (12)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 4
diso_​to_​diso : 4
diso_​to_​phen : 1
diso_​to_​phys : 1


Relationships:
none : 11
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN121img genetic aspects C0017399
DISO_to_DISO58img Complication Aspects C1171258
DISO_to_DISO49img Alzheimer Disease C0002395
DISO_to_CHEM46img Binding Protein, DNA C0012940
DISO_to_ANAT37img Brain C0006104
DISO_to_DISO37img Amyotrophic Lateral Sclerosis C0002736
DISO_to_CHEM32img INTERCELLULAR SIGNALING PEPTIDES PROTEINS C1136108
DISO_to_CHEM25img RNA-Binding Protein FUS C0950472
DISO_to_ANAT21img Temporal Lobe C0039485
DISO_to_CHEM17img tau Proteins C0085401
DISO_to_PHYS17img Mutation C0026882
DISO_to_DISOpermuted_term_ofimg Frontotemporal Lobar Degeneration C0751072
Genes (10)

Species:
human : 10
SpeciesGeneGeneIdGene NameEvidence
HumanLOC643387643387TAR DNA binding protein pseudogene
img GENERIF, Score=1000, Pubmed Id: 18097163, UMLKSK CUI: C0751072
img GENERIF, Score=1000, Pubmed Id: 17923628, UMLKSK CUI: C0751072
HumanLRRK2120892leucine-rich repeat kinase 2
img GENERIF, Score=1000, Pubmed Id: 17151837, UMLKSK CUI: C0751072
HumanCHMP2B25978charged multivesicular body protein 2B
img GENERIF, Score=1000, Pubmed Id: 17956895, UMLKSK CUI: C0751072
HumanTARDBP23435TAR DNA binding protein
img GENERIF, Score=1000, Pubmed Id: 18755042, UMLKSK CUI: C0751072
img GENERIF, Score=1000, Pubmed Id: 17569066, UMLKSK CUI: C0751072
img GENERIF, Score=1000, Pubmed Id: 18088371, UMLKSK CUI: C0751072
img GENERIF, Score=1000, Pubmed Id: 18656473, UMLKSK CUI: C0751072
img GENERIF, Score=1000, Pubmed Id: 17023659, UMLKSK CUI: C0751072
img GENERIF, Score=1000, Pubmed Id: 18379440, UMLKSK CUI: C0751072
img GENERIF, Score=1000, Pubmed Id: 17492294, UMLKSK CUI: C0751072
HumanSQSTM18878sequestosome 1
img GENERIF, Score=1000, Pubmed Id: 18379439, UMLKSK CUI: C0751072
HumanVEGFA7422vascular endothelial growth factor A
img GENERIF, Score=923, Pubmed Id: 18729809, UMLKSK CUI: C0751072
HumanSLC6A46532solute carrier family 6 (neurotransmitter transporter), member 4
img GENERIF, Score=1000, Pubmed Id: 19020798, UMLKSK CUI: C0751072
HumanMAPT4137microtubule-associated protein tau
img GAD, Score=1000, Pubmed Id: 11939896, UMLKSK CUI: C0751072
img GENERIF, Score=923, Pubmed Id: 18458217, UMLKSK CUI: C0751072
HumanGRN2896granulin
img GENERIF, Score=1000, Pubmed Id: 18223198, UMLKSK CUI: C0751072
img GENERIF, Score=923, Pubmed Id: 16983685, UMLKSK CUI: C0751072
img GENERIF, Score=1000, Pubmed Id: 17572900, UMLKSK CUI: C0751072
HumanAPOE348apolipoprotein E
img GAD, Score=1000, Pubmed Id: 11939896, UMLKSK CUI: C0751072
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0751072Frontotemporal Lobar Degeneration0self