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Details
Link-It Detail - Human Phenotype - Abnormality of the neuromuscular junction
Debug Stats
  • ### Total Build Time: 28 ms 21.215 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 216 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 465 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 2.186 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 1.180 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 16.005 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.035 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the neuromuscular junction HP:0003398
Parents (1)
img Abnormality of the peripheral nervous system HP:0000759
Children (6)
img Fatigable weakness HP:0003473
img Proximal muscle weakness due to defect at the neuromuscular junction HP:0003399
img Generalized hypotonia due to defect at the neuromuscular junction HP:0003397
img Generalized muscle weakness due to defect at the neuromuscular junction HP:0003428
img Prolonged miniature endplate currents HP:0003436
img Decreased miniature endplate potentials HP:0003402
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the peripheral nervous system HP:0000759
Genes (17)

Species:
human : 17
SpeciesGeneGeneIdGene NameEvidence
HumanAGRN375790agrin
img HP RolledUp, OMIM ID: 254300
HumanDOK7285489docking protein 7
img HP RolledUp, OMIM ID: 254300
HumanCOLQ8292collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
img HP RolledUp, OMIM ID: 603034
HumanFIMG18144myasthenia gravis, familial infantile, 1
img HP RolledUp, OMIM ID: 605809
HumanTHM7063thymoma
img HP RolledUp, OMIM ID: 274230
HumanSCN4A6329sodium channel, voltage-gated, type IV, alpha subunit
img HP RolledUp, OMIM ID: 614198
HumanRAPSN5913receptor-associated protein of the synapse
img HP RolledUp, OMIM ID: 608931
HumanPLEC5339plectin
img HP RolledUp, OMIM ID: 226670
HumanMUSK4593muscle, skeletal, receptor tyrosine kinase
img HP RolledUp, OMIM ID: 608931
HumanKRT143861keratin 14
img HP RolledUp, OMIM ID: 131900
HumanKRT53852keratin 5
img HP RolledUp, OMIM ID: 131900
HumanGFPT12673glutamine--fructose-6-phosphate transaminase 1
img HP RolledUp, OMIM ID: 608931
img HP RolledUp, OMIM ID: 610542
HumanCHRNE1145cholinergic receptor, nicotinic, epsilon (muscle)
img HP RolledUp, OMIM ID: 608930
img HP RolledUp, OMIM ID: 608931
img HP RolledUp, OMIM ID: 601462
HumanCHRND1144cholinergic receptor, nicotinic, delta (muscle)
img HP RolledUp, OMIM ID: 601462
img HP RolledUp, OMIM ID: 608930
HumanCHRNB11140cholinergic receptor, nicotinic, beta 1 (muscle)
img HP RolledUp, OMIM ID: 601462
img HP RolledUp, OMIM ID: 608931
HumanCHRNA11134cholinergic receptor, nicotinic, alpha 1 (muscle)
img HP RolledUp, OMIM ID: 601462
img HP RolledUp, OMIM ID: 608930
HumanCHAT1103choline O-acetyltransferase
img HP RolledUp, OMIM ID: 254210
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0003398Abnormality of the neuromuscular junction0self