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Details
Link-It Detail - Disease - Neuromuscular Junction Diseases
Debug Stats
  • ### Total Build Time: 89 ms 30.419 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 416 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 488 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=20 ms Completed: 20 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 558 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 1.839 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.515 KB
  • CONCEPT_RELATIONSHIPS gt=22 ms Completed: 22 ms rowSize= 7.202 KB
  • CONCEPT_GENES gt=29 ms Completed: 29 ms rowSize= 17.060 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.165 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Neuromuscular Junction Diseases C0751950
NEUROMUSCULAR JUNCTION DIS
Definition (1)
Conditions characterized by impaired transmission of impulses at the NEUROMUSCULAR JUNCTION. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or ACETYLCHOLINESTERASE activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Neuromuscular Diseases C0027868
Children (4)
img Myasthenia Gravis C0026896
img Myasthenic Syndromes, Congenital C0751882
img Lambert-Eaton Myasthenic Syndrome C0022972
img Botulism C0006057
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278683img Neuromuscular Diseases C0027868
Relationships (16)

Relation Types:
diso_​to_​anat : 4
diso_​to_​diso : 9
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 12
isa : 3
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT18img Junction, Myoneural C0027869
DISO_to_PHEN15img genetic aspects C0017399
DISO_to_PHYS8img NEURAL TRANSM C0027793
DISO_to_ANAT7img Muscle, Skeletal C0242692
DISO_to_ANAT6img Muscle, Skeletal C0242692
DISO_to_DISO5img Complication Aspects C1171258
DISO_to_DISO5img Muscular Diseases C0026848
DISO_to_DISO5img Peripheral Nervous System Diseases C0031117
DISO_to_ANAT4img Junction, Myoneural C0027869
DISO_to_DISO4img A-50 MYONEURAL DISORDERS C0027868
DISO_to_DISO4img chemically induced C0007994
DISO_to_PHEN4img genetic aspects C0017399
DISO_to_DISOisaimg Acquired neuromuscular ptosis C1827335
DISO_to_DISOisaimg Disorder of neuromuscular transmission C1278533
DISO_to_DISOisaimg Hereditary motor end-plate disease C0270947
DISO_to_DISOpermuted_term_ofimg NEUROMUSCULAR JUNCTION DIS C0751950
Genes (37)

Species:
human : 37
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCCR2729230chemokine (C-C motif) receptor 2
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanDOK7285489docking protein 7
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanMYAS1246750Myasthenia gravis with thymus hyperplasia
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanCD27680381CD276 molecule
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanTNFSF13B10673tumor necrosis factor (ligand) superfamily, member 13b
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanCXCL1310563chemokine (C-X-C motif) ligand 13
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanTNF7124tumor necrosis factor
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanTGFB17040transforming growth factor, beta 1
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanSOX16656SRY (sex determining region Y)-box 1
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanRAPSN5913receptor-associated protein of the synapse
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanPTPRC5788protein tyrosine phosphatase, receptor type, C
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanPDCD15133programmed cell death 1
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanMUSK4593muscle, skeletal, receptor tyrosine kinase
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanCXCL103627chemokine (C-X-C motif) ligand 10
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanIL12B3593interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanIL103586interleukin 10
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanIL63569interleukin 6 (interferon, beta 2)
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanIL1A3552interleukin 1, alpha
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanHLA-DRB13123
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanHLA-DRA3122
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanHLA-DQB13119
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanHLA-B3106
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanHLA-A3105
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanGZMB3002granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
INFERRED, Score=800, UMLKSK CUI: C0751950
HumanCXCR32833chemokine (C-X-C motif) receptor 3
INFERRED, Score=800, UMLKSK CUI: C0751950
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0751950Neuromuscular Junction Diseases0self