Lambert-Eaton Myasthenic Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A neuromuscular junction disease that results from an abnormality of acetylcholine (ACh) release at the neuromuscular junction. It results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. (Human Disease Ontology, DOID_0050214)
External Link https://www.disgenet.org/browser/0/1/0/C0022972
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Genes

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

Symbol Name
ACHE acetylcholinesterase (Yt blood group)
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CD274 CD274 molecule
CD2AP CD2-associated protein
CEACAM4 carcinoembryonic antigen-related cell adhesion molecule 4
CEACAM6 carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)
CHAT choline O-acetyltransferase
CHRND cholinergic receptor, nicotinic, delta (muscle)
COL13A1 collagen, type XIII, alpha 1
CXCL8 chemokine (C-X-C motif) ligand 8
DAP death-associated protein
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
F11R F11 receptor
GMPPB GDP-mannose pyrophosphorylase B
GORASP1 golgi reassembly stacking protein 1, 65kDa
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
ICAM1 intercellular adhesion molecule 1
IL10 interleukin 10
IL1B interleukin 1, beta
IL2RA interleukin 2 receptor, alpha
ISG20 interferon stimulated exonuclease gene 20kDa
PLEC plectin
PREPL prolyl endopeptidase-like
PTEN phosphatase and tensin homolog
RBM45 RNA binding motif protein 45
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SOX1 SRY (sex determining region Y)-box 1
SOX2 SRY (sex determining region Y)-box 2
SYT1 synaptotagmin I
SYT2 synaptotagmin II
TNF tumor necrosis factor
WNK1 WNK lysine deficient protein kinase 1