congenital myasthenic syndrome Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). (Human Disease Ontology, DOID_3635)
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Genes

14 genes involed in the disease congenital myasthenic syndrome 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