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Details
Link-It Detail - Jax Mouse Phenotype - myoclonus
Debug Stats
  • ### Total Build Time: 80 ms 24.760 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 346 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 332 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=5 ms Completed: 5 ms rowSize= 1,023 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=11 ms Completed: 11 ms rowSize= 4.221 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=60 ms Completed: 60 ms rowSize= 17.578 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
myoclonus MP:0000243
Definition (1)
involuntary shock-like contractions, variable in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles; generally due to a central nervous system lesion
Parents (2)
img muscle spasm MP:0000743
img convulsive seizures MP:0000947
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img muscle phenotype MP:00053696img muscle spasm MP:0000743
img mammalian phenotype MP:0000001img nervous system phenotype MP:00036316img convulsive seizures MP:0000947
img mammalian phenotype MP:0000001img behavior/neurological phenotype MP:00053866img convulsive seizures MP:0000947
Genes (28)

Species:
human : 28
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanNHLRC1378884NHL repeat containing 1
Click here to display 48 evidence detail records.
HumanNPAS4266743neuronal PAS domain protein 4
Click here to display 48 evidence detail records.
HumanARX170302aristaless related homeobox
Click here to display 48 evidence detail records.
HumanEFHC1114327EF-hand domain (C-terminal) containing 1
Click here to display 48 evidence detail records.
HumanSLC7A1056301solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10
Click here to display 48 evidence detail records.
HumanCIT11113citron (rho-interacting, serine/threonine kinase 21)
Click here to display 48 evidence detail records.
HumanPPARGC1A10891peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
Click here to display 48 evidence detail records.
HumanPPT29374palmitoyl-protein thioesterase 2
Click here to display 48 evidence detail records.
HumanCACNA2D29254calcium channel, voltage-dependent, alpha 2/delta subunit 2
Click here to display 48 evidence detail records.
HumanBSN8927bassoon presynaptic cytomatrix protein
Click here to display 48 evidence detail records.
HumanSGCE8910sarcoglycan, epsilon
Click here to display 48 evidence detail records.
HumanNRP28828neuropilin 2
Click here to display 48 evidence detail records.
HumanEPM2A7957epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
Click here to display 48 evidence detail records.
HumanALDH5A17915aldehyde dehydrogenase 5 family, member A1
Click here to display 48 evidence detail records.
HumanSNAP256616synaptosomal-associated protein, 25kDa
Click here to display 48 evidence detail records.
HumanATXN76314ataxin 7
Click here to display 48 evidence detail records.
HumanPPT15538palmitoyl-protein thioesterase 1
Click here to display 48 evidence detail records.
HumanPLAUR5329plasminogen activator, urokinase receptor
Click here to display 48 evidence detail records.
HumanPCMT15110protein-L-isoaspartate (D-aspartate) O-methyltransferase
Click here to display 48 evidence detail records.
HumanNEU14758sialidase 1 (lysosomal sialidase)
Click here to display 48 evidence detail records.
HumanMAFG4097v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G
Click here to display 48 evidence detail records.
HumanKCNJ113767potassium inwardly-rectifying channel, subfamily J, member 11
Click here to display 48 evidence detail records.
HumanKCNC23747potassium voltage-gated channel, Shaw-related subfamily, member 2
Click here to display 48 evidence detail records.
HumanKCNC13746potassium voltage-gated channel, Shaw-related subfamily, member 1
Click here to display 48 evidence detail records.
HumanKCNA13736potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
Click here to display 48 evidence detail records.
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0000243myoclonus0self