congenital myasthenic syndrome Gene Set

Dataset DISEASES Text-mining 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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52 genes co-occuring with the disease congenital myasthenic syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
CHRNE cholinergic receptor, nicotinic, epsilon (muscle) 2.87701
DOK7 docking protein 7 2.65874
RAPSN receptor-associated protein of the synapse 2.46844
CHRND cholinergic receptor, nicotinic, delta (muscle) 2.45225
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle) 2.37525
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) 2.26007
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 1.95347
GFPT1 glutamine--fructose-6-phosphate transaminase 1 1.93421
MUSK muscle, skeletal, receptor tyrosine kinase 1.75142
AGRN agrin 1.72958
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 1.5934
ACHE acetylcholinesterase (Yt blood group) 1.53921
ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit 1.30663
HNRNPLL heterogeneous nuclear ribonucleoprotein L-like 1.29964
SCN4A sodium channel, voltage gated, type IV alpha subunit 1.27388
CHAT choline O-acetyltransferase 1.26386
CHRNG cholinergic receptor, nicotinic, gamma (muscle) 1.2356
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit 1.12656
VPS13C vacuolar protein sorting 13 homolog C (S. cerevisiae) 1.00203
UTRN utrophin 0.93207
PREPL prolyl endopeptidase-like 0.899514
PLEC plectin 0.890898
SCN3A sodium channel, voltage gated, type III alpha subunit 0.857724
SCN8A sodium channel, voltage gated, type VIII alpha subunit 0.798692
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 0.777386
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 0.750457
BCHE butyrylcholinesterase 0.742735
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) 0.722482
HNRNPL heterogeneous nuclear ribonucleoprotein L 0.712796
CTNND2 catenin (cadherin-associated protein), delta 2 0.590948
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 0.502675
ITPR3 inositol 1,4,5-trisphosphate receptor, type 3 0.460883
PTBP1 polypyrimidine tract binding protein 1 0.460129
NRCAM neuronal cell adhesion molecule 0.446558
ZNF77 zinc finger protein 77 0.420641
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) 0.412405
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 0.40008
NMT1 N-myristoyltransferase 1 0.379256
CLCN1 chloride channel, voltage-sensitive 1 0.372958
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit 0.353027
CTNND1 catenin (cadherin-associated protein), delta 1 0.332121
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1 0.323002
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like 0.322637
NDRG1 N-myc downstream regulated 1 0.313552
NTRK1 neurotrophic tyrosine kinase, receptor, type 1 0.299452
HNRNPC heterogeneous nuclear ribonucleoprotein C (C1/C2) 0.298011
SPTB spectrin, beta, erythrocytic 0.266203
TYRO3 TYRO3 protein tyrosine kinase 0.252774
PRSS12 protease, serine, 12 (neurotrypsin, motopsin) 0.25207
PLEK pleckstrin 0.222822
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 0.211597
EMD emerin 0.166995