abnormal endplate potential Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description defect in the excitatory response of peripheral synapses to stimulation; these amplitudes are larger than central synapse potentials (Mammalian Phenotype Ontology, MP_0002914)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002914
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14 gene mutations causing the abnormal endplate potential phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COL13A1 collagen, type XIII, alpha 1
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
HSPG2 heparan sulfate proteoglycan 2
MUSK muscle, skeletal, receptor tyrosine kinase
NRG1 neuregulin 1
PRKCQ protein kinase C, theta
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SMN1 survival of motor neuron 1, telomeric
SNAP25 synaptosomal-associated protein, 25kDa
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)