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Details
Link-It Detail - Jax Mouse Phenotype - muscle spasm
Debug Stats
  • ### Total Build Time: 41 ms 21.462 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 352 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 314 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 171 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= 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= 568 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.872 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 1.552 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=33 ms Completed: 33 ms rowSize= 15.371 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
muscle spasm MP:0000743
Definition (1)
an involuntary and often painful muscle contraction or cramps having a number of causes ranging from nutritional deficiency to serious nervous system conditions
Synonyms (1)
"muscle spasms" EXACT
Parents (1)
img muscle twitch MP:0009046
Children (4)
img emprosthotonos MP:0009354
img muscle tetany MP:0009045
img myoclonus MP:0000243
img opisthotonus MP:0002880
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img muscle phenotype MP:00053695img muscle twitch MP:0009046
Genes (52)

Species:
human : 52
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanNHLRC1378884NHL repeat containing 1
INFERRED
HumanHMX3340784H6 family homeobox 3
Click here to display 43 evidence detail records.
HumanNPAS4266743neuronal PAS domain protein 4
INFERRED
HumanARX170302aristaless related homeobox
INFERRED
HumanEFHC1114327EF-hand domain (C-terminal) containing 1
INFERRED
HumanSLC7A1056301solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10
INFERRED
HumanHTRA227429HtrA serine peptidase 2
Click here to display 43 evidence detail records.
HumanCIT11113citron (rho-interacting, serine/threonine kinase 21)
INFERRED
HumanPPARGC1A10891peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
INFERRED
HumanGNB510681guanine nucleotide binding protein (G protein), beta 5
INFERRED
HumanPPT29374palmitoyl-protein thioesterase 2
INFERRED
HumanCACNA2D29254calcium channel, voltage-dependent, alpha 2/delta subunit 2
INFERRED
HumanSLC6A59152solute carrier family 6 (neurotransmitter transporter), member 5
Click here to display 43 evidence detail records.
HumanBSN8927bassoon presynaptic cytomatrix protein
INFERRED
HumanSGCE8910sarcoglycan, epsilon
INFERRED
HumanNRP28828neuropilin 2
INFERRED
HumanCNTNAP18506contactin associated protein 1
Click here to display 43 evidence detail records.
HumanGAN8139gigaxonin
Click here to display 43 evidence detail records.
HumanEPM2A7957epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
INFERRED
HumanALDH5A17915aldehyde dehydrogenase 5 family, member A1
INFERRED
HumanTFAP2B7021transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
Click here to display 43 evidence detail records.
HumanTFAM7019transcription factor A, mitochondrial
Click here to display 43 evidence detail records.
HumanSNAP256616synaptosomal-associated protein, 25kDa
INFERRED
HumanATXN76314ataxin 7
INFERRED
HumanRYR16261ryanodine receptor 1 (skeletal)
INFERRED
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0000743muscle spasm0self