emg: impaired neuromuscular transmission Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP). (Human Phenotype Ontology, HP_0100285)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100285
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Genes

7 genes associated with the emg: impaired neuromuscular transmission phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CHAT choline O-acetyltransferase
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
GFPT1 glutamine--fructose-6-phosphate transaminase 1
MUSK muscle, skeletal, receptor tyrosine kinase
RAPSN receptor-associated protein of the synapse