muscle twitch Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description minor, sometimes imperceptible, local muscle contractions or uncontrollable movement of a single muscle group served by a single motor nerve fiber or filament sometime, but not always, indicating a neurological disorder (Mammalian Phenotype Ontology, MP_0009046)
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57 gene mutations causing the muscle twitch phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AGRN agrin
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ARX aristaless related homeobox
ATCAY ataxia, cerebellar, Cayman type
ATXN7 ataxin 7
BSN bassoon presynaptic cytomatrix protein
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CCR10 chemokine (C-C motif) receptor 10
CIT citron rho-interacting serine/threonine kinase
CLCN1 chloride channel, voltage-sensitive 1
CNTNAP1 contactin associated protein 1
CSTB cystatin B (stefin B)
DST dystonin
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EFHC1 EF-hand domain (C-terminal) containing 1
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
GALC galactosylceramidase
GAN gigaxonin
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
GRID2 glutamate receptor, ionotropic, delta 2
GRM1 glutamate receptor, metabotropic 1
HMX2 H6 family homeobox 2
HMX3 H6 family homeobox 3
HOXA1 homeobox A1
HOXC8 homeobox C8
HTRA2 HtrA serine peptidase 2
HYDIN HYDIN, axonemal central pair apparatus protein
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNC2 potassium channel, voltage gated Shaw related subfamily C, member 2
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KCNV1 potassium channel, voltage gated modifier subfamily V, member 1
LAMA2 laminin, alpha 2
MYO5A myosin VA (heavy chain 12, myoxin)
NEU1 sialidase 1 (lysosomal sialidase)
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NPAS4 neuronal PAS domain protein 4
NRP2 neuropilin 2
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLAUR plasminogen activator, urokinase receptor
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPT1 palmitoyl-protein thioesterase 1
PPT2 palmitoyl-protein thioesterase 2
RELN reelin
RYR1 ryanodine receptor 1 (skeletal)
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SGCE sarcoglycan, epsilon
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SLC7A10 solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10
SNAP25 synaptosomal-associated protein, 25kDa
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)