neuromuscular junction disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction. (Human Disease Ontology, DOID_439)
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14 genes involed in the disease neuromuscular junction disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
AGRN agrin
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
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
GFPT1 glutamine--fructose-6-phosphate transaminase 1
MUSK muscle, skeletal, receptor tyrosine kinase
PLEC plectin
RAPSN receptor-associated protein of the synapse
SCN4A sodium channel, voltage gated, type IV alpha subunit