neuromuscular junction disease Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction. (Human Disease Ontology, DOID_439)
Similar Terms
Downloads & Tools

Genes

252 genes co-occuring with the disease neuromuscular junction disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
MUSK muscle, skeletal, receptor tyrosine kinase 3.07614
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) 2.2727
CHRNE cholinergic receptor, nicotinic, epsilon (muscle) 2.1935
RAPSN receptor-associated protein of the synapse 2.15872
DOK7 docking protein 7 2.11291
ACHE acetylcholinesterase (Yt blood group) 2.06804
TTN titin 2.01796
BCHE butyrylcholinesterase 1.90149
CHRND cholinergic receptor, nicotinic, delta (muscle) 1.78894
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle) 1.76366
CD4 CD4 molecule 1.67819
LRP4 low density lipoprotein receptor-related protein 4 1.66735
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) 1.61083
RYR1 ryanodine receptor 1 (skeletal) 1.56978
OMG oligodendrocyte myelin glycoprotein 1.52996
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 1.52688
NMT1 N-myristoyltransferase 1 1.41183
KCNA4 potassium channel, voltage gated shaker related subfamily A, member 4 1.39171
GFPT1 glutamine--fructose-6-phosphate transaminase 1 1.2944
TMPO thymopoietin 1.29265
AGRN agrin 1.19661
CST7 cystatin F (leukocystatin) 1.18539
SOX1 SRY (sex determining region Y)-box 1 1.16949
FOXP3 forkhead box P3 1.16179
CTLA4 cytotoxic T-lymphocyte-associated protein 4 1.13501
AIRE autoimmune regulator 1.1194
HLA-DRB1 major histocompatibility complex, class II, DR beta 1 1.11856
DPYSL5 dihydropyrimidinase-like 5 1.01216
AKAP12 A kinase (PRKA) anchor protein 12 1.0071
HLA-A major histocompatibility complex, class I, A 1.00625
TGFB1 transforming growth factor, beta 1 0.978848
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 0.974221
CHAT choline O-acetyltransferase 0.97086
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 0.958705
AQP4 aquaporin 4 0.937044
POMC proopiomelanocortin 0.918436
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b 0.911022
SYT1 synaptotagmin I 0.871643
CHRNG cholinergic receptor, nicotinic, gamma (muscle) 0.868368
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit 0.849126
MBP myelin basic protein 0.831099
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group) 0.815104
CD79A CD79a molecule, immunoglobulin-associated alpha 0.803616
MB myoglobin 0.789262
IL2 interleukin 2 0.785574
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 0.768393
IL4 interleukin 4 0.765535
ERC2 ELKS/RAB6-interacting/CAST family member 2 0.76431
SCN4A sodium channel, voltage gated, type IV alpha subunit 0.758601
ALB albumin 0.753713
CD5 CD5 molecule 0.752898
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 0.75005
CACNB2 calcium channel, voltage-dependent, beta 2 subunit 0.741517
HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2 0.737054
MAG myelin associated glycoprotein 0.718039
IFNA1 interferon, alpha 1 0.718039
ADRA1D adrenoceptor alpha 1D 0.711587
ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit 0.706351
HNRNPLL heterogeneous nuclear ribonucleoprotein L-like 0.699919
CXCR5 chemokine (C-X-C motif) receptor 5 0.656837
SNRNP27 small nuclear ribonucleoprotein 27kDa (U4/U6.U5) 0.655254
CXCL13 chemokine (C-X-C motif) ligand 13 0.646953
LTA lymphotoxin alpha 0.637102
AMPH amphiphysin 0.631598
HLA-B major histocompatibility complex, class I, B 0.619442
HLA-DPB1 major histocompatibility complex, class II, DP beta 1 0.616703
MYH13 myosin, heavy chain 13, skeletal muscle 0.614747
CD58 CD58 molecule 0.604201
CTSV cathepsin V 0.58433
HLA-C major histocompatibility complex, class I, C 0.58433
ERC1 ELKS/RAB6-interacting/CAST family member 1 0.583941
B3GAT1 beta-1,3-glucuronyltransferase 1 0.581606
CD19 CD19 molecule 0.579661
CCL21 chemokine (C-C motif) ligand 21 0.577716
CR1 complement component (3b/4b) receptor 1 (Knops blood group) 0.561392
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit 0.542767
TNIP1 TNFAIP3 interacting protein 1 0.522659
CD86 CD86 molecule 0.516494
ARPC5L actin related protein 2/3 complex, subunit 5-like 0.502675
CAMP cathelicidin antimicrobial peptide 0.495411
UTRN utrophin 0.495029
TNF tumor necrosis factor 0.482844
CA3 carbonic anhydrase III 0.482844
CD80 CD80 molecule 0.480945
IL10 interleukin 10 0.480566
ARPC5 actin related protein 2/3 complex, subunit 5, 16kDa 0.474498
CD59 CD59 molecule, complement regulatory protein 0.472982
IL1B interleukin 1, beta 0.470711
RPS13 ribosomal protein S13 0.468819
MYOG myogenin (myogenic factor 4) 0.468441
CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit 0.460129
TSPO translocator protein (18kDa) 0.453716
TRPC3 transient receptor potential cation channel, subfamily C, member 3 0.448817
MYF6 myogenic factor 6 (herculin) 0.445805
CNTNAP2 contactin associated protein-like 2 0.442795
DYNLT1 dynein, light chain, Tctex-type 1 0.440538
SCN3A sodium channel, voltage gated, type III alpha subunit 0.440162
ENOX1 ecto-NOX disulfide-thiol exchanger 1 0.437906
VPS13C vacuolar protein sorting 13 homolog C (S. cerevisiae) 0.429642
NCAM1 neural cell adhesion molecule 1 0.413153
CD40LG CD40 ligand 0.409787
PRF1 perforin 1 (pore forming protein) 0.407172
PRSS16 protease, serine, 16 (thymus) 0.406425
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) 0.403064
CD40 CD40 molecule, TNF receptor superfamily member 5 0.398589
CD69 CD69 molecule 0.39598
CSF2 colony stimulating factor 2 (granulocyte-macrophage) 0.394118
BSN bassoon presynaptic cytomatrix protein 0.389653
TRAC T cell receptor alpha constant 0.388166
SCN8A sodium channel, voltage gated, type VIII alpha subunit 0.386308
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) 0.385565
NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 0.384451
SNED1 sushi, nidogen and EGF-like domains 1 0.374809
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B 0.369258
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 0.359289
LGI1 leucine-rich, glioma inactivated 1 0.358183
ADRB2 adrenoceptor beta 2, surface 0.356341
C5AR1 complement component 5a receptor 1 0.352659
TG thyroglobulin 0.343106
PREPL prolyl endopeptidase-like 0.338341
PTPN3 protein tyrosine phosphatase, non-receptor type 3 0.333218
VPREB1 pre-B lymphocyte 1 0.332121
PLEC plectin 0.33066
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 0.330295
HSPG2 heparan sulfate proteoglycan 2 0.330295
PHYH phytanoyl-CoA 2-hydroxylase 0.328834
TCHH trichohyalin 0.323002
HLA-E major histocompatibility complex, class I, E 0.322273
MOG myelin oligodendrocyte glycoprotein 0.320817
MYOD1 myogenic differentiation 1 0.318999
SOX21 SRY (sex determining region Y)-box 21 0.318272
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 0.317182
TMX1 thioredoxin-related transmembrane protein 1 0.316819
AFP alpha-fetoprotein 0.316456
STAM signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 0.311377
CD276 CD276 molecule 0.308842
GOLIM4 golgi integral membrane protein 4 0.301254
CIC capicua transcriptional repressor 0.297651
IGHV3-30 immunoglobulin heavy variable 3-30 0.296571
GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1 0.291539
OAT ornithine aminotransferase 0.28831
ICAM1 intercellular adhesion molecule 1 0.28831
PTPN12 protein tyrosine phosphatase, non-receptor type 12 0.286877
ITPR3 inositol 1,4,5-trisphosphate receptor, type 3 0.285802
PTPRD protein tyrosine phosphatase, receptor type, D 0.280439
IL7R interleukin 7 receptor 0.280082
AKAP1 A kinase (PRKA) anchor protein 1 0.275445
SYT2 synaptotagmin II 0.275445
PSMA1 proteasome (prosome, macropain) subunit, alpha type, 1 0.275445
NRG4 neuregulin 4 0.272241
SIL1 SIL1 nucleotide exchange factor 0.268687
HLA-DQB3 major histocompatibility complex, class II, DQ beta 3 0.267622
AMPD1 adenosine monophosphate deaminase 1 0.265849
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C 0.257358
C3 complement component 3 0.256652
IL2RA interleukin 2 receptor, alpha 0.253831
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 0.24996
PANX2 pannexin 2 0.243295
PGA4 pepsinogen 4, group I (pepsinogen A) 0.242595
PGA3 pepsinogen 3, group I (pepsinogen A) 0.242595
BRDT bromodomain, testis-specific 0.240148
RND1 Rho family GTPase 1 0.23945
TSHR thyroid stimulating hormone receptor 0.238752
CLEC4C C-type lectin domain family 4, member C 0.236312
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 0.231795
GFER growth factor, augmenter of liver regeneration 0.22937
WAC WW domain containing adaptor with coiled-coil 0.229024
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 0.228333
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 0.214297
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B 0.213283
PXDN peroxidasin 0.210925
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 0.209583
SCO1 SCO1 cytochrome c oxidase assembly protein 0.208245
NELFCD negative elongation factor complex member C/D 0.204263
CACNB4 calcium channel, voltage-dependent, beta 4 subunit 0.20229
ENO2 enolase 2 (gamma, neuronal) 0.200006
RBP3 retinol binding protein 3, interstitial 0.198709
STIM1 stromal interaction molecule 1 0.198709
CDR2 cerebellar degeneration-related protein 2, 62kDa 0.197099
NRG2 neuregulin 2 0.196139
TPM1 tropomyosin 1 (alpha) 0.19582
ELAVL3 ELAV like neuron-specific RNA binding protein 3 0.195501
TFRC transferrin receptor 0.195183
PTPRC protein tyrosine phosphatase, receptor type, C 0.192031
HSPD1 heat shock 60kDa protein 1 (chaperonin) 0.190476
VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae) 0.189859
NLE1 notchless homolog 1 (Drosophila) 0.188938
TUBB2A tubulin, beta 2A class IIa 0.182375
HNRNPL heterogeneous nuclear ribonucleoprotein L 0.180367
MBD5 methyl-CpG binding domain protein 5 0.178126
F8 coagulation factor VIII, procoagulant component 0.177576
MRPS7 mitochondrial ribosomal protein S7 0.172038
CXCR3 chemokine (C-X-C motif) receptor 3 0.171785
CTTN cortactin 0.171036
DMD dystrophin 0.170054
CENPC centromere protein C 0.168148
PTPN11 protein tyrosine phosphatase, non-receptor type 11 0.167915
C4A complement component 4A (Rodgers blood group) 0.166995
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit 0.166544
ADA adenosine deaminase 0.166095
MIR185 microRNA 185 0.165001
CNTFR ciliary neurotrophic factor receptor 0.164786
TNFRSF21 tumor necrosis factor receptor superfamily, member 21 0.163317
CNTN2 contactin 2 (axonal) 0.162109
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1 0.161716
CD52 CD52 molecule 0.159302
TUBB tubulin, beta class I 0.159124
GNAT3 guanine nucleotide binding protein, alpha transducing 3 0.157929
GRP gastrin-releasing peptide 0.141793
EMD emerin 0.140672
ELAVL2 ELAV like neuron-specific RNA binding protein 2 0.140516
SOX3 SRY (sex determining region Y)-box 3 0.140061
CTNND2 catenin (cadherin-associated protein), delta 2 0.139468
HYLS1 hydrolethalus syndrome 1 0.13871
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1 0.138576
ORAI1 ORAI calcium release-activated calcium modulator 1 0.138539
RCVRN recoverin 0.137651
PHGDH phosphoglycerate dehydrogenase 0.137634
CAV2 caveolin 2 0.137458
PTBP1 polypyrimidine tract binding protein 1 0.136759
NRCAM neuronal cell adhesion molecule 0.136398
NTF4 neurotrophin 4 0.135824
ZNF77 zinc finger protein 77 0.135657
CLCN1 chloride channel, voltage-sensitive 1 0.134076
PNMA2 paraneoplastic Ma antigen 2 0.132997
CTNND1 catenin (cadherin-associated protein), delta 1 0.132432
FUT2 fucosyltransferase 2 (secretor status included) 0.132302
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 0.132104
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1 0.13202
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like 0.132003
NDRG1 N-myc downstream regulated 1 0.131573
NTRK1 neurotrophic tyrosine kinase, receptor, type 1 0.130863
HNRNPC heterogeneous nuclear ribonucleoprotein C (C1/C2) 0.130787
GRM5 glutamate receptor, metabotropic 5 0.129248
SPTB spectrin, beta, erythrocytic 0.128962
SLC5A8 solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 0.12809
TYRO3 TYRO3 protein tyrosine kinase 0.12809
PRSS12 protease, serine, 12 (neurotrypsin, motopsin) 0.128042
PLEK pleckstrin 0.125869
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) 0.125093
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 0.124916
CIITA class II, major histocompatibility complex, transactivator 0.119905
SRPR signal recognition particle receptor (docking protein) 0.119468
IL17A interleukin 17A 0.119429
IGHV3-9 immunoglobulin heavy variable 3-9 0.119309
NUMBL numb homolog (Drosophila)-like 0.119186
BAG6 BCL2-associated athanogene 6 0.118484
IFNB1 interferon, beta 1, fibroblast 0.11823
MTX1 metaxin 1 0.11806
SOX2 SRY (sex determining region Y)-box 2 0.117975
IGLV9-49 immunoglobulin lambda variable 9-49 0.117933
BIN3 bridging integrator 3 0.117891