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Details
Link-It Detail - Disease - Amyotrophic Lateral Sclerosis
Debug Stats
  • ### Total Build Time: 557 ms 59.235 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 356 bytes
  • CONCEPT_SOLR_HIT_STATS gt=1 ms Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 760 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=7 ms Completed: 7 ms rowSize= 1.401 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=20 ms Completed: 20 ms rowSize= 6.655 KB
  • CONCEPT_RELATIONSHIPS gt=457 ms Completed: 457 ms rowSize= 14.906 KB
  • CONCEPT_GENES gt=54 ms Completed: 54 ms rowSize= 33.801 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.163 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Amyotrophic Lateral Sclerosis C0002736
Definition (1)
A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img TDP-43 Proteinopathies C2718017
img Motor Neuron Disease C0085084
img Spinal Cord Diseases C0037928
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 Nervous System Diseases C0027765img Neuromuscular Diseases C00278684img Motor Neuron Disease C0085084
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248514img Motor Neuron Disease C0085084
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076824img Spinal Cord Diseases C0037928
Relationships (177)

Relation Types:
diso_​to_​anat : 43
diso_​to_​chem : 47
diso_​to_​diso : 55
diso_​to_​gene : 9
diso_​to_​phen : 3
diso_​to_​phys : 20


Relationships:
none : 147
classifies : 2
entry_​version_​of : 1
gene_​associated_​with_​disease : 8
gene_​product_​malfunction_​associated_​with_​disease : 3
is_​associated_​anatomic_​site_​of : 2
isa : 2
mapped_​to : 8
may_​treat : 2
related_​to : 2
Page Size
Current 25
  Page 1 of 8
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN1082img genetic aspects C0017399
DISO_to_PHEN513img genetic aspects C0017399
DISO_to_CHEM460img Superoxide Dismutase C0038838
DISO_to_DISO378img Complication Aspects C1171258
DISO_to_ANAT324img Motor Neurons C0026609
DISO_to_CHEM283img Superoxide Dismutase C0038838
DISO_to_ANAT218img Motor Neurons C0026609
DISO_to_DISO207img Complication Aspects C1171258
DISO_to_PHYS193img Mutation C0026882
DISO_to_CHEM179img Binding Protein, DNA C0012940
DISO_to_CHEM179img DNA-Binding Proteins C0012940
DISO_to_ANAT169img Spinal Cord C0037925
DISO_to_ANAT126img Brain C0006104
DISO_to_ANAT119img Spinal Cord C0037925
DISO_to_ANAT116img In Blood C0005768
DISO_to_PHYS97img GENET PREDISPOSITION C0314657
DISO_to_DISO87img Degeneration, Nerve C0027746
DISO_to_PHYS82img Mutation C0026882
DISO_to_DISO80img Dementia C0497327
DISO_to_CHEM77img RNA-Binding Protein FUS C0950472
DISO_to_ANAT74img Muscle, Skeletal C0242692
DISO_to_ANAT72img Neurons C0027882
DISO_to_DISO70img Disease Models, Animal C0012644
DISO_to_CHEM67img Neuroprotective Agents C0242912
DISO_to_ANAT66img In Blood C0005768
Genes (59)

Species:
human : 59
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanALS2CL259173ALS2 C-terminal like
img GENERIF, Score=861, Pubmed Id: 15388334, UMLKSK CUI: C0002736
HumanGRIN3B116444glutamate receptor, ionotropic, N-methyl-D-aspartate 3B
img GENERIF, Score=1000, Pubmed Id: 17687115, UMLKSK CUI: C0002736
HumanBTBD1084280BTB (POZ) domain containing 10
img GENERIF, Score=1000, Pubmed Id: 18160256, UMLKSK CUI: C0002736
HumanALS257679amyotrophic lateral sclerosis 2 (juvenile)
img OMIM, Score=862, UMLKSK CUI: C0002736
img GAD, Score=1000, Pubmed Id: 12866199, UMLKSK CUI: C0002736
HumanRTN457142reticulon 4
img GENERIF, Score=1000, Pubmed Id: 12270696, UMLKSK CUI: C0002736
img GENERIF, Score=1000, Pubmed Id: 17626519, UMLKSK CUI: C0002736
HumanFGGY55277FGGY carbohydrate kinase domain containing
img GENERIF, Score=1000, Pubmed Id: 17671248, UMLKSK CUI: C0002736
HumanTRPM754822transient receptor potential cation channel, subfamily M, member 7
img OMIM, Score=1000, UMLKSK CUI: C0002736
HumanVPS5451542vacuolar protein sorting 54 homolog (S. cerevisiae)
img GENERIF, Score=1000, Pubmed Id: 18574757, UMLKSK CUI: C0002736
HumanANKRD127063ankyrin repeat domain 1 (cardiac muscle)
img GENERIF, Score=1000, Pubmed Id: 12679596, UMLKSK CUI: C0002736
HumanRNF19A25897ring finger protein 19A, E3 ubiquitin protein ligase
img GENERIF, Score=1000, Pubmed Id: 12875980, UMLKSK CUI: C0002736
HumanTARDBP23435TAR DNA binding protein
Click here to display 9 evidence detail records.
HumanSETX23064senataxin
img GENERIF, Score=923, Pubmed Id: 15106121, UMLKSK CUI: C0002736
HumanPARK711315parkinson protein 7
img GENERIF, Score=694, Pubmed Id: 16240358, UMLKSK CUI: C0002736
HumanCCS9973copper chaperone for superoxide dismutase
img GENERIF, Score=756, Pubmed Id: 11991808, UMLKSK CUI: C0002736
HumanVAPB9217VAMP (vesicle-associated membrane protein)-associated protein B and C
img GENERIF, Score=1000, Pubmed Id: 18322265, UMLKSK CUI: C0002736
HumanVGF7425VGF nerve growth factor inducible
img GENERIF, Score=1000, Pubmed Id: 16481598, UMLKSK CUI: C0002736
HumanVEGFA7422vascular endothelial growth factor A
img GENERIF, Score=1000, Pubmed Id: 12847526, UMLKSK CUI: C0002736
img GENERIF, Score=1000, Pubmed Id: 17215390, UMLKSK CUI: C0002736
img GENERIF, Score=756, Pubmed Id: 17538775, UMLKSK CUI: C0002736
img GENERIF, Score=1000, Pubmed Id: 16410746, UMLKSK CUI: C0002736
img GAD, Score=1000, Pubmed Id: 15763997, UMLKSK CUI: C0002736
img GENERIF, Score=1000, Pubmed Id: 15776280, UMLKSK CUI: C0002736
HumanVDR7421vitamin D (1,25- dihydroxyvitamin D3) receptor
img GAD, Score=1000, Pubmed Id: 12896855, UMLKSK CUI: C0002736
HumanTRPM27226transient receptor potential cation channel, subfamily M, member 2
img GENERIF, Score=1000, Pubmed Id: 19004782, UMLKSK CUI: C0002736
HumanTNFRSF1B7133tumor necrosis factor receptor superfamily, member 1B
img GENERIF, Score=1000, Pubmed Id: 18083240, UMLKSK CUI: C0002736
HumanTIMP37078TIMP metallopeptidase inhibitor 3
img GENERIF, Score=1000, Pubmed Id: 18316197, UMLKSK CUI: C0002736
HumanTIMP17076TIMP metallopeptidase inhibitor 1
img GENERIF, Score=1000, Pubmed Id: 12614934, UMLKSK CUI: C0002736
HumanSOD16647superoxide dismutase 1, soluble
Click here to display 39 evidence detail records.
HumanSNCA6622synuclein, alpha (non A4 component of amyloid precursor)
img GENERIF, Score=1000, Pubmed Id: 18843496, UMLKSK CUI: C0002736
HumanSMN26607survival of motor neuron 2, centromeric
img GAD, Score=1000, Pubmed Id: 11835381, UMLKSK CUI: C0002736
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0002736Amyotrophic Lateral Sclerosis0self