abnormal synaptic transmission at the neuromuscular junction Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers. (Human Phenotype Ontology, HP_0003398)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003398
Similar Terms
Downloads & Tools


14 genes associated with the abnormal synaptic transmission at the neuromuscular junction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CHAT choline O-acetyltransferase
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
DOK7 docking protein 7
GFPT1 glutamine--fructose-6-phosphate transaminase 1
KRT14 keratin 14, type I
KRT5 keratin 5, type II
MUSK muscle, skeletal, receptor tyrosine kinase
PLEC plectin
RAPSN receptor-associated protein of the synapse
SCN4A sodium channel, voltage gated, type IV alpha subunit