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MCID: NRM006
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Neuromuscular Junction Disease

Categories: Neuronal diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Neuromuscular Junction Disease

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MalaCards integrated aliases for Neuromuscular Junction Disease:

Name: Neuromuscular Junction Disease 12 15
Neuromuscular Junction Diseases 44 73

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:439
MeSH 44 D020511
UMLS 73 C0751950
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Summaries for Neuromuscular Junction Disease

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Disease Ontology : 12 A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction.

MalaCards based summary : Neuromuscular Junction Disease, also known as neuromuscular junction diseases, is related to congenital myasthenic syndrome and lambert-eaton myasthenic syndrome. An important gene associated with Neuromuscular Junction Disease is MUSK (Muscle Associated Receptor Tyrosine Kinase), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Transmission across Chemical Synapses. The drugs Azathioprine and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include heart and thymus, and related phenotypes are Increased vaccinia virus (VACV) infection and mortality/aging

Wikipedia : 76 Neuromuscular junction disease is a medical condition where the normal conduction through the... more...

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Related Diseases for Neuromuscular Junction Disease

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Diseases related to Neuromuscular Junction Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 congenital myasthenic syndrome 30.2 ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE
2 lambert-eaton myasthenic syndrome 11.1
3 neonatal myasthenia gravis 10.2 DPAGT1 MUSK
4 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 10.1 CHRNE DOK7 MUSK
5 myasthenic syndrome, congenital, 1b, fast-channel 10.1 CHRNA1 CHRNE
6 multiple pterygium syndrome, lethal type 10.0 CHRNA1 CHRND RAPSN
7 thymus gland disease 10.0 LRP4 MUSK OMG TTN
8 multiple pterygium syndrome, escobar variant 10.0 CHRNA1 CHRNB1 CHRND
9 muscular disease 10.0 AGRN DOK7 TLR9 TTN
10 cystic lymphangioma 10.0 CHRND DOK7
11 slow-channel congenital myasthenic syndrome 9.9 CHRNA1 CHRNB1 CHRND CHRNE
12 sclerosteosis 2 9.9 AGRN DOK7 DPAGT1 LRP4 MUSK RAPSN
13 fetal akinesia deformation sequence 9.9 CHRNA1 CHRND DOK7 MUSK RAPSN
14 myasthenic syndrome, congenital, 5 9.9 ACHE COLQ DPAGT1 KCNH1
15 cenani-lenz syndactyly syndrome 9.8 ACHE AGRN DOK7 DPAGT1 LRP4 MUSK
16 ptosis 9.8 CHRNA1 CHRND CHRNE COLQ DOK7 MUSK
17 myasthenia gravis 9.7 ACHE AGRN CHRNA1 CHRNE MUSK RAPSN
18 heart block, congenital 9.7 DDX41 TNFRSF25
19 autoimmune disease of the nervous system 9.7 AGRN DDX41 MUSK OMG TLR9 TTN
20 autoimmune disease of musculoskeletal system 9.7 DDX41 MUSK TLR9 TNFRSF25
21 immune system disease 9.7 DDX41 MUSK TLR9 TNFRSF25
22 postsynaptic congenital myasthenic syndromes 9.5 AGRN CHRNA1 CHRNB1 CHRND CHRNE DOK7
23 peripheral nervous system disease 9.5 ACHE AGRN CHRNE COLQ DOK7 DPAGT1

Graphical network of the top 20 diseases related to Neuromuscular Junction Disease:



Diseases related to Neuromuscular Junction Disease
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Symptoms & Phenotypes for Neuromuscular Junction Disease

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GenomeRNAi Phenotypes related to Neuromuscular Junction Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased vaccinia virus (VACV) infection GR00249-S 9.62 ACHE AGRN CHRNA1 CHRNA4 CHRNB1 CHRND

MGI Mouse Phenotypes related to Neuromuscular Junction Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.13 ACHE AGRN CHRNA1 CHRNA4 CHRNE DDX41
2 behavior/neurological MP:0005386 10.02 ACHE AGRN CHRNA1 CHRNA4 CHRNE DOK7
3 muscle MP:0005369 9.7 ACHE AGRN CHRNE DOK7 MUSK RAPSN
4 nervous system MP:0003631 9.7 ACHE AGRN CHRNA1 CHRNA4 CHRNB1 CHRNE
5 respiratory system MP:0005388 9.17 ACHE AGRN CHRNE DOK7 LRP4 MUSK
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Drugs & Therapeutics for Neuromuscular Junction Disease

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Drugs for Neuromuscular Junction Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 100)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azathioprine Approved Phase 4,Phase 3,Not Applicable 446-86-6 2265
2
Prednisone Approved, Vet_approved Phase 4,Phase 3,Not Applicable 53-03-2 5865
3 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
4 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
5 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
6 Antimetabolites Phase 4,Phase 3,Phase 2,Not Applicable
7 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2,Not Applicable
8 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Phase 2
9 Botulinum Antitoxin Phase 4,Phase 1
10 Botulinum Toxins Phase 4,Phase 1
11 Antitoxins Phase 4,Phase 1
12 Immunoglobulins, Intravenous Phase 4,Phase 3,Phase 2,Not Applicable
13 gamma-Globulins Phase 4,Phase 3,Phase 2,Not Applicable
14 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 Rho(D) Immune Globulin Phase 4,Phase 3,Phase 2,Not Applicable
16 Antibodies Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 1
18 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1
19 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 1
20 Hormone Antagonists Phase 4,Phase 3,Phase 1
21 Hormones Phase 4,Phase 3,Phase 1
22 glucocorticoids Phase 4,Phase 3,Phase 1
23 Cholinergic Agents Phase 4,Phase 3,Phase 1,Phase 2
24 Pyridostigmine Bromide Phase 4,Phase 3 101-26-8
25 Bromides Phase 4,Phase 3
26 Cholinesterase Inhibitors Phase 4,Phase 3,Not Applicable
27
Mycophenolic acid Approved Phase 3,Not Applicable 24280-93-1 446541
28
Tacrolimus Approved, Investigational Phase 3 104987-11-3 445643 439492
29
4-Aminopyridine Approved Phase 2, Phase 3,Phase 3,Not Applicable 504-24-5 1727
30
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
31
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
32 tannic acid Approved Phase 3
33
Methylprednisolone Approved, Vet_approved Phase 3,Phase 1 83-43-2 6741
34
Prednisolone Approved, Vet_approved Phase 3,Phase 1 50-24-8 5755
35
Methylprednisolone hemisuccinate Approved Phase 3,Phase 1 2921-57-5
36
Prednisolone phosphate Approved, Vet_approved Phase 3,Phase 1 302-25-0
37
Acetylcholine Approved Phase 3,Phase 1,Phase 2 51-84-3 187
38
rituximab Approved Phase 3,Phase 2,Phase 1 174722-31-7 10201696
39
Aluminum hydroxide Approved, Investigational Phase 2, Phase 3,Phase 1 21645-51-2
40
Leflunomide Approved, Investigational Phase 3 75706-12-6 3899
41
Prednisolone hemisuccinate Experimental Phase 3,Phase 1 2920-86-7
42 Anti-Infective Agents Phase 3,Not Applicable
43 Anti-Bacterial Agents Phase 3,Not Applicable
44 Antibiotics, Antitubercular Phase 3,Not Applicable
45 Antitubercular Agents Phase 3,Not Applicable
46 Calcineurin Inhibitors Phase 3
47 3,4-diaminopyridine Phase 2, Phase 3,Phase 3,Not Applicable
48 Potassium Channel Blockers Phase 2, Phase 3,Phase 3,Not Applicable
49 Vaccines Phase 3,Phase 2,Phase 1
50 Chlorpheniramine, phenylpropanolamine drug combination Phase 3

Interventional clinical trials:

(show top 50) (show all 107)
# Name Status NCT ID Phase Drugs
1 BT-011 Pharmacokinetics of Botulism Antitoxin Heptavalent in Pediatric Patients Completed NCT02051062 Phase 4
2 Intravenous Immunoglobulin and Plasma Exchange in Myasthenia Gravis Completed NCT01179893 Phase 4
3 Study Comparing Two Tapering Strategies of Prednisone in Myasthenia Gravis Completed NCT00987116 Phase 4 Prednisone - Azathioprine
4 Effect of Pyridostigmine (Mestinon) on Muscle Strength in Myasthenia Gravis Recruiting NCT03510546 Phase 4 Pyridostigmine;Placebo oral capsule
5 An Open Study for Steroid Resistant, Non-Thymectomized MG Patients Completed NCT00309101 Phase 3 tacrolimus
6 Pilot Study on the Usefulness of 3,4-diaminopyridine in the Treatment of Botulism Completed NCT01441557 Phase 2, Phase 3 3,4-diaminopyridine
7 Phase 3 Study to Evaluate Efficacy of Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS) Completed NCT02970162 Phase 3 Amifampridine Phosphate;Placebo Oral Tablet
8 A Study to Assess the Efficacy and Safety of IGIV-C in Patients With Myasthenia Gravis Exacerbations Completed NCT02413580 Phase 3
9 Safety and Efficacy of Eculizumab in Refractory Generalized Myasthenia Gravis (REGAIN Study) Completed NCT01997229 Phase 3 Placebo
10 A Phase 3 Study of Amifampridine Phosphate in Patients With Lambert Eaton Myasthenic Syndrome (LEMS) Completed NCT01377922 Phase 3 Amifampridine Phosphate;Placebo
11 A Study to Compare the Efficacy and Safety of Tacrolimus Capsules in Patient With Myasthenia Gravis Completed NCT01325571 Phase 3 Tacrolimus capsule;Placebo
12 A Study to Assess the Effect of CellCept (Mycophenolate Mofetil) and Reduced Corticosteroids in Controlling Symptoms of Myasthenia Gravis Completed NCT00683969 Phase 3 mycophenolate mofetil (CellCept);placebo
13 Efficacy and Safety Study of GB-0998 for Treatment of Generalized Myasthenia Gravis Completed NCT00515450 Phase 3
14 A Continuation Study to Assess the Effect of CellCept in Patients With Myasthenia Gravis. Completed NCT00408213 Phase 3 mycophenolate mofetil [CellCept];Placebo
15 FK506 Phase 3 Study: a Study for Steroid Non-resistant Myasthenia Gravis (MG) Patients Completed NCT00309088 Phase 3 tacrolimus;placebo
16 Intravenous Immune Globulin Treatment Compared to Placebo in Patients With Myasthenia Gravis Completed NCT00306033 Phase 3 Intravenous ImmuneGlobulin
17 Thymectomy Trial in Non-Thymomatous Myasthenia Gravis Patients Receiving Prednisone Therapy Completed NCT00294658 Phase 3 prednisone alone
18 Mycophenolate Mofetil in Myasthenia Gravis Completed NCT00285350 Phase 3 mycophenolate mofetil
19 Study to Evaluate Amifampridine Phosphate in Patients With MuSK-MG Recruiting NCT03304054 Phase 3 Amifampridine Phosphate;Placebo Oral Tablet
20 A Pilot Trial To Assess The Feasibility And Efficacy Of SCIG In Patients With MG Exacerbation (SCIG-MG) Recruiting NCT02774239 Phase 3 Human normal immunoglobulin G (IgG)
21 The Efficacy and Safety of Leflunomide or Azathioprine Therapy in Myasthenia Gravis Patients After Expand Thymectomy Recruiting NCT01727193 Phase 3 Azathioprine;Leflunomide
22 An Efficacy and Safety Study of ARGX-113 in Patients With Myasthenia Gravis Who Have Generalized Muscle Weakness Recruiting NCT03669588 Phase 3
23 Long Term Safety Study of Amifampridine Phosphate in MuSK-MG (Muscle Specific Tyrosine Kinase Myasthenia Gravis) Recruiting NCT03579966 Phase 3 Amifampridine Phosphate
24 A Study Evaluating the Safety and Efficacy of Rituximab in Patients With Myasthenia Gravis Recruiting NCT02950155 Phase 3 Rituximab;Sodium Chloride solution
25 Amifampridine Phosphate for the Treatment of Congenital Myasthenic Syndromes Recruiting NCT02562066 Phase 3 amifampridine phosphate;Placebo
26 ECU-MG-302: An Extension Trial of ECU-MG-301 to Evaluate Safety and Efficacy of Eculizumab in Refractory Generalized Myasthenia Gravis Active, not recruiting NCT02301624 Phase 3
27 A Safety and Tolerability Study of ARGX-113 in Patients With Myasthenia Gravis Who Have Generalized Muscle Weakness. Not yet recruiting NCT03770403 Phase 3
28 A Phase 3 Open-Label Study of Eculizumab in Pediatric Participants With Refractory Generalized Myasthenia Gravis (gMG) Not yet recruiting NCT03759366 Phase 3 Eculizumab
29 Efficacy of Prednisone In the Treatment of Ocular Myasthenia Terminated NCT00995722 Phase 3 Prednisone;Placebo
30 Phase 3, Randomized, Safety, Lot Consistency and Clinical Benefit Study of Recombinant Botulinum Vaccine A/B Withdrawn NCT01940315 Phase 3
31 A Study to Evaluate the Efficacy of CV-MG01 (Myasterix) in Myasthenia Gravis Withdrawn NCT03165435 Phase 2, Phase 3
32 Ephedrine for the Treatment of Congenital Myasthenia Unknown status NCT00541216 Phase 1, Phase 2 Ephedrine
33 The Evaluation of Belimumab in Myasthenia Gravis (MG) Completed NCT01480596 Phase 2
34 Safety, Tolerability, and Immunogenicity Study of Investigational Recombinant Botulinum Vaccine A/B (rBV A/B) in Volunteers Previously Immunized With Investigational Pentavalent Botulinum Toxoid Completed NCT01701999 Phase 2
35 Study to Test the Safety, Tolerability and Efficacy of UCB7665 in Subjects With Moderate to Severe Myasthenia Gravis. Completed NCT03052751 Phase 2 UCB7665
36 A Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of ARGX-113 in Patients With Myasthenia Gravis Who Have Generalized Muscle Weakness Completed NCT02965573 Phase 2 Placebo
37 Safety,Tolerability,Pharmacokinetics and Efficacy of CFZ533 in Moderate to Severe Myasthenia Gravis Completed NCT02565576 Phase 2 Placebo;CFZ533
38 A Study to Evaluate the Efficacy and Safety of IGIV-C in Symptomatic Subjects With Generalized Myasthenia Gravis Completed NCT02473952 Phase 2 IGIV-C;Placebo
39 Double Blind, Safety and Immunogenicity Study of Recombinant Botulinum Vaccine A/B Completed NCT00764634 Phase 2
40 BeatMG: Phase II Trial of Rituximab In Myasthenia Gravis Completed NCT02110706 Phase 2 Rituximab;Placebo
41 Effectiveness of 3,4-Diaminopyridine in Lambert-Eaton Myasthenic Syndrome Completed NCT01511978 Phase 2 Continuous 3,4-DAP;Taper 3,4-DAP to Placebo
42 Efficacy of Methotrexate in Myasthenia Gravis Completed NCT00814138 Phase 2 Methotrexate
43 Rituximab for the Treatment of Refractory Inflammatory Myopathies and Refractory Myasthenia Gravis Completed NCT00774462 Phase 2 Rituximab
44 A Pilot Trial of Rituxan in Refractory Myasthenia Gravis Completed NCT00619671 Phase 1, Phase 2 Rituximab (Rituxan)
45 Tolerability and Immunogenicity of rBV A/B for the Production of BabyBIG® Recruiting NCT03676634 Phase 2
46 The Safety and Efficacy of "3-Hole" Subxiphorid Approach in the Treatment of Anterior Mediastinal Tumor Recruiting NCT02317224 Phase 2
47 A Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics and Pharmacodynamics of M281 Administered to Adults With Generalized Myasthenia Gravis Recruiting NCT03772587 Phase 2 M281
48 Therapy of Antibody-mediated Autoimmune Diseases by Bortezomib (TAVAB) Recruiting NCT02102594 Phase 2 Bortezomib
49 Safety and Efficacy Study of RA101495 in Subjects With Generalized Myasthenia Gravis Active, not recruiting NCT03315130 Phase 2 RA101495;Placebo
50 Safety, Tolerability and Immunogenic Response of CV-MG01 in Patients With Myasthenia Gravis Active, not recruiting NCT02609022 Phase 1, Phase 2

Search NIH Clinical Center for Neuromuscular Junction Disease

Cochrane evidence based reviews: neuromuscular junction diseases

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Genetic Tests for Neuromuscular Junction Disease

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Anatomical Context for Neuromuscular Junction Disease

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MalaCards organs/tissues related to Neuromuscular Junction Disease:

41
Heart, Thymus
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Publications for Neuromuscular Junction Disease

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Articles related to Neuromuscular Junction Disease:

# Title Authors Year
1
Motor neuron, nerve, and neuromuscular junction disease. ( 21825986 )
2011
2
Neuromuscular junction disease or neuropathic disorder? ( 20581646 )
2010
3
Electrophysiology of neuromuscular junction disease: an appreciation of the contributions of Edward H. Lambert. ( 6302497 )
1982
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Variations for Neuromuscular Junction Disease

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Expression for Neuromuscular Junction Disease

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Search GEO for disease gene expression data for Neuromuscular Junction Disease.
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Pathways for Neuromuscular Junction Disease

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Pathways related to Neuromuscular Junction Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Nanog in Mammalian ESC Pluripotency 64
Show member pathways
 12.89 CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE MUSK
2
Transmission across Chemical Synapses 66
Show member pathways
 12.65 ACHE CHRNA1 CHRNA4 CHRND CHRNE KCNH1
3
Postsynaptic nicotinic acetylcholine receptors 66
Show member pathways
 11.39 CHRNA1 CHRNA4 CHRND CHRNE
4
ECM proteoglycans 66
11.19 AGRN LRP4 MUSK
5
Agrin Interactions at Neuromuscular Junction 64
11.01 AGRN CHRNA1 MUSK RAPSN
6
Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics 61
10 CHRNA1 CHRNB1 CHRND CHRNE
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GO Terms for Neuromuscular Junction Disease

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Cellular components related to Neuromuscular Junction Disease according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.93 ACHE AGRN CHRNA1 CHRNA4 CHRNB1 CHRND
2 postsynaptic membrane GO:0045211 9.92 CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE KCNH1
3 neuron projection GO:0043005 9.91 CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE IQGAP1
4 synapse GO:0045202 9.73 ACHE AGRN CHRNA1 CHRNA4 CHRNB1 CHRND
5 basement membrane GO:0005604 9.67 ACHE AGRN COLQ
6 acetylcholine-gated channel complex GO:0005892 9.65 CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE
7 integral component of postsynaptic specialization membrane GO:0099060 9.63 CHRNA1 CHRNB1 CHRND
8 synaptic cleft GO:0043083 9.51 ACHE COLQ
9 neuromuscular junction GO:0031594 9.28 ACHE CHRNA1 CHRNB1 CHRND CHRNE COLQ
10 membrane GO:0016020 10.36 ACHE AGRN CHRNA1 CHRNA4 CHRNB1 CHRND
11 plasma membrane GO:0005886 10.3 ACHE AGRN CHRNA1 CHRNA4 CHRNB1 CHRND
12 integral component of plasma membrane GO:0005887 10.08 CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE KCNH1

Biological processes related to Neuromuscular Junction Disease according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.97 CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE KCNH1
2 chemical synaptic transmission GO:0007268 9.93 CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE RAPSN
3 muscle contraction GO:0006936 9.84 CHRNB1 CHRND CHRNE TTN
4 excitatory postsynaptic potential GO:0060079 9.8 CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE
5 regulation of membrane potential GO:0042391 9.8 CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE KCNH1
6 cation transport GO:0006812 9.77 CHRNA1 CHRNB1 CHRND
7 nervous system process GO:0050877 9.77 CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE
8 skeletal muscle contraction GO:0003009 9.69 CHRNA1 CHRNB1 CHRND
9 skeletal muscle acetylcholine-gated channel clustering GO:0071340 9.65 COLQ LRP4 MUSK
10 regulation of postsynaptic membrane potential GO:0060078 9.65 CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE
11 neuromuscular process GO:0050905 9.61 CHRNA1 CHRND
12 negative regulation of axonogenesis GO:0050771 9.61 LRP4 OMG
13 regulation of synaptic growth at neuromuscular junction GO:0008582 9.61 AGRN COLQ MUSK
14 neurotransmitter catabolic process GO:0042135 9.59 ACHE COLQ
15 behavioral response to nicotine GO:0035095 9.58 CHRNA4 CHRNB1
16 musculoskeletal movement GO:0050881 9.57 CHRNA1 CHRND
17 skeletal muscle tissue growth GO:0048630 9.55 CHRNA1 CHRND
18 response to nicotine GO:0035094 9.55 CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE
19 acetylcholine catabolic process in synaptic cleft GO:0001507 9.52 ACHE COLQ
20 neuromuscular synaptic transmission GO:0007274 9.35 CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE
21 synaptic transmission, cholinergic GO:0007271 9.1 CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE RAPSN
22 signal transduction GO:0007165 10.21 AGRN CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE
23 ion transport GO:0006811 10.05 CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE KCNH1

Molecular functions related to Neuromuscular Junction Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.91 CHRNA1 CHRNA4 CHRNB1 CHRND MUSK TLR9
2 ion channel activity GO:0005216 9.85 CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE KCNH1
3 extracellular ligand-gated ion channel activity GO:0005230 9.72 CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.71 CHRNA1 CHRNB1 CHRND CHRNE
5 ligand-gated ion channel activity GO:0015276 9.65 CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE
6 acetylcholine-gated cation-selective channel activity GO:0022848 9.55 CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE
7 laminin binding GO:0043236 9.46 ACHE AGRN
8 acetylcholine receptor activity GO:0015464 9.35 CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE
9 acetylcholine binding GO:0042166 9.1 ACHE CHRNA1 CHRNA4 CHRNB1 CHRND CHRNE
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Sources for Neuromuscular Junction Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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