Myasthenic Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0549225
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Genes

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

Symbol Name
ACHE acetylcholinesterase (Yt blood group)
AGRN agrin
ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase
B3GAT1 beta-1,3-glucuronyltransferase 1
BCHE butyrylcholinesterase
C17ORF107 chromosome 17 open reading frame 107
CAV1 caveolin 1, caveolae protein, 22kDa
CD2AP CD2-associated protein
CHAT choline O-acetyltransferase
CHD7 chromodomain helicase DNA binding protein 7
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)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COL13A1 collagen, type XIII, alpha 1
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
DAP death-associated protein
DES desmin
DNAJA3 DnaJ (Hsp40) homolog, subfamily A, member 3
DOK7 docking protein 7
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
EIF3K eukaryotic translation initiation factor 3, subunit K
ERBB3 erb-b2 receptor tyrosine kinase 3
F11R F11 receptor
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GMPPB GDP-mannose pyrophosphorylase B
HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 (H)
HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 (H')
LAMA5 laminin, alpha 5
LAMB2 laminin, beta 2 (laminin S)
LRP4 low density lipoprotein receptor-related protein 4
MACF1 microtubule-actin crosslinking factor 1
MUSK muscle, skeletal, receptor tyrosine kinase
MYO9A myosin IXA
NGFR nerve growth factor receptor
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
PLEC plectin
PREPL prolyl endopeptidase-like
RAPSN receptor-associated protein of the synapse
RPH3A rabphilin 3A
SCN4A sodium channel, voltage gated, type IV alpha subunit
SEA S13 erythroblastosis (avian) oncogene homolog
SEMA7A semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SNAP25 synaptosomal-associated protein, 25kDa
SND1 staphylococcal nuclease and tudor domain containing 1
SRSF1 serine/arginine-rich splicing factor 1
SYT2 synaptotagmin II
TAPBPL TAP binding protein-like
TPM3 tropomyosin 3
UTRN utrophin
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VCP valosin containing protein