Congenital Myasthenic Syndromes Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0751883
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Genes

21 genes associated with the disease Congenital Myasthenic Syndromes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AGRN agrin
AK9 adenylate kinase 9
ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COL13A1 collagen, type XIII, alpha 1
DAP death-associated protein
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
GFPT1 glutamine--fructose-6-phosphate transaminase 1
LRP4 low density lipoprotein receptor-related protein 4
MYO9A myosin IXA
PREPL prolyl endopeptidase-like
SCN4A sodium channel, voltage gated, type IV alpha subunit
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SNAP25 synaptosomal-associated protein, 25kDa
SYT2 synaptotagmin II
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)