Neuromuscular Junction Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: NRM006 MIFTS: 38	Neuromuscular Junction Disease Categories: Neuronal diseases
Genes Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Neuromuscular Junction Disease

MalaCards integrated aliases for Neuromuscular Junction Disease:

Name: Neuromuscular Junction Disease ¹² ¹⁵

Neuromuscular Junction Diseases ⁴⁵ ⁷⁴

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:439

MeSH ⁴⁵ D020511

UMLS ⁷⁴ C0751950

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Summaries for Neuromuscular Junction Disease

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 Transmission across Chemical Synapses and ECM proteoglycans. The drugs Azathioprine and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include testes and thymus, and related phenotypes are Increased vaccinia virus (VACV) infection and Decreased shRNA abundance (Z-score < -2)

Wikipedia : ⁷⁷ Neuromuscular junction disease is a medical condition where the normal conduction through the... more...

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Related Diseases for Neuromuscular Junction Disease

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

(show all 21)

#	Related Disease	Score	Top Affiliating Genes
1	congenital myasthenic syndrome	30.1	ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE
2	lambert-eaton myasthenic syndrome	11.1
3	myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency	10.2	CHRNE DOK7 MUSK
4	myasthenic syndrome, congenital, 1b, fast-channel	10.2	CHRNA1 CHRNE
5	multiple pterygium syndrome, lethal type	10.1	CHRNA1 CHRND RAPSN
6	multiple pterygium syndrome, escobar variant	10.1	CHRNA1 CHRNB1 CHRND
7	myasthenic syndrome, congenital, 5	10.0	ACHE COLQ KCNH1
8	sclerosteosis 2	10.0	AGRN DOK7 LRP4 MUSK RAPSN
9	cystic lymphangioma	10.0	CHRND DOK7
10	slow-channel congenital myasthenic syndrome	10.0	CHRNA1 CHRNB1 CHRND CHRNE
11	autoimmune disease of musculoskeletal system	10.0	DDX41 MUSK TNFRSF25
12	butyrylcholinesterase deficiency	10.0	ACHE BCHE
13	heart block, congenital	9.9	DDX41 TNFRSF25
14	inclusion body myositis	9.8
15	myositis	9.8
16	cenani-lenz syndactyly syndrome	9.8	ACHE AGRN DOK7 LRP4 MUSK RAPSN
17	ptosis	9.7	CHRNA1 CHRND CHRNE COLQ DOK7 MUSK
18	thymus gland disease	9.7	KCNA4 LRP4 MUSK OMG TTN
19	peripheral nervous system disease	9.6	ACHE AGRN CHRNE COLQ DOK7 MUSK
20	postsynaptic congenital myasthenic syndromes	9.4	AGRN CHRNA1 CHRNB1 CHRND CHRNE DOK7
21	myasthenia gravis	9.2	ACHE AGRN CHRNA1 CHRNE MUSK RAPSN

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

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Symptoms & Phenotypes for Neuromuscular Junction Disease

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

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased vaccinia virus (VACV) infection	GR00249-S	9.6	ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-119	9.5	TMPO
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-141	9.5	TMPO
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-155	9.5	CHRNA1 RAPSN TMPO
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-193	9.5	TMPO
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-27	9.5	TMPO

MGI Mouse Phenotypes related to Neuromuscular Junction Disease:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	mortality/aging	MP:0010768	10.07	ACHE AGRN BCHE CHRNA1 CHRNE DDX41
2	behavior/neurological	MP:0005386	10.02	ACHE AGRN CHRNA1 CHRNE DOK7 KCNA4
3	muscle	MP:0005369	9.7	ACHE AGRN CHRNE DOK7 MUSK RAPSN
4	nervous system	MP:0003631	9.7	ACHE AGRN CHRNA1 CHRNB1 CHRNE DOK7
5	respiratory system	MP:0005388	9.17	ACHE AGRN CHRNE DOK7 LRP4 MUSK

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Drugs & Therapeutics for Neuromuscular Junction Disease

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

(show top 50) (show all 108)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Azathioprine

Approved

Phase 4,Phase 3,Not Applicable

446-86-6

2265

Prednisone

Approved, Vet_approved

Phase 4,Phase 3,Phase 1

53-03-2

5865

Immunologic Factors

Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable

Antimetabolites

Phase 4,Phase 3,Phase 2,Not Applicable

Antimetabolites, Antineoplastic

Phase 4,Phase 3,Phase 2,Not Applicable

Immunosuppressive Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Antirheumatic Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Neurotransmitter Agents

Phase 4,Phase 3,Phase 2,Phase 1

Antitoxins

Phase 4,Phase 1

Botulinum Toxins

Phase 4,Phase 1

Botulinum Antitoxin

Phase 4,Phase 1

Immunoglobulins, Intravenous

Phase 4,Phase 3,Phase 2,Not Applicable

Antibodies

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

gamma-Globulins

Phase 4,Phase 3,Phase 2,Not Applicable

Rho(D) Immune Globulin

Phase 4,Phase 3,Phase 2,Not Applicable

Immunoglobulins

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Anti-Inflammatory Agents

Phase 4,Phase 3,Phase 1

glucocorticoids

Phase 4,Phase 3,Phase 1

Antineoplastic Agents, Hormonal

Phase 4,Phase 3,Phase 1

Hormones

Phase 4,Phase 3,Phase 1

Hormone Antagonists

Phase 4,Phase 3,Phase 1

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 4,Phase 3,Phase 1

Cholinergic Agents

Phase 4,Phase 3,Phase 1,Phase 2

Bromides

Phase 4,Phase 3

Cholinesterase Inhibitors

Phase 4,Phase 3,Phase 1

Pyridostigmine Bromide

Phase 4,Phase 3

101-26-8

Mycophenolic acid

Approved

Phase 3,Not Applicable

24280-93-1

446541

Tacrolimus

Approved, Investigational

Phase 3

104987-11-3

6473866 445643 439492

Amifampridine

Approved, Investigational

Phase 2, Phase 3,Phase 3,Not Applicable

54-96-6

Benzocaine

Approved, Investigational

Phase 3

1994-09-7, 94-09-7

2337

tannic acid

Approved

Phase 3

1401-55-4

Guaifenesin

Approved, Investigational, Vet_approved

Phase 3

93-14-1

3516

Methylprednisolone hemisuccinate

Approved

Phase 3,Phase 1

2921-57-5

Prednisolone phosphate

Approved, Vet_approved

Phase 3,Phase 1

302-25-0

Prednisolone

Approved, Vet_approved

Phase 3,Phase 1

50-24-8

5755

Methylprednisolone

Approved, Vet_approved

Phase 3,Phase 1

83-43-2

6741

Acetylcholine

Approved, Investigational

Phase 3,Phase 1,Phase 2

51-84-3

187

rituximab

Approved

Phase 3,Phase 2,Phase 1

174722-31-7

10201696

Aluminum hydroxide

Approved, Investigational

Phase 2, Phase 3,Phase 1

21645-51-2

Leflunomide

Approved, Investigational

Phase 3

75706-12-6

3899

Ravulizumab

Approved, Investigational

Phase 3

1803171-55-2

Tyrosine

Approved, Investigational, Nutraceutical

Phase 3

60-18-4

6057

Prednisolone hemisuccinate

Experimental

Phase 3,Phase 1

2920-86-7

Peripheral Nervous System Agents

Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable

Antitubercular Agents

Phase 3,Not Applicable

Antibiotics, Antitubercular

Phase 3,Not Applicable

Anti-Bacterial Agents

Phase 3,Not Applicable

Anti-Infective Agents

Phase 3,Not Applicable

Autonomic Agents

Phase 2, Phase 3,Phase 1

Anti-Asthmatic Agents

Phase 2, Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 119)

#	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	Safety and Efficacy Study of Ravulizumab in Adults With Generalized Myasthenia Gravis	Recruiting	NCT03920293	Phase 3	Placebo
23	Beta-agonist Efficacy and Tolerability as Adjuvant Therapy in Myasthenia Gravis	Recruiting	NCT03914638	Phase 2, Phase 3	Salbutamol 4Mg Tablet;Placebo oral capsule
24	A Safety and Tolerability Study of ARGX-113 in Patients With Myasthenia Gravis Who Have Generalized Muscle Weakness.	Recruiting	NCT03770403	Phase 3
25	A Phase 3 Open-Label Study of Eculizumab in Pediatric Participants With Refractory Generalized Myasthenia Gravis (gMG)	Recruiting	NCT03759366	Phase 3	Eculizumab
26	An Efficacy and Safety Study of ARGX-113 in Patients With Myasthenia Gravis Who Have Generalized Muscle Weakness	Recruiting	NCT03669588	Phase 3
27	Long Term Safety Study of Amifampridine Phosphate in MuSK-MG (Muscle Specific Tyrosine Kinase Myasthenia Gravis)	Recruiting	NCT03579966	Phase 3	Amifampridine Phosphate
28	A Study Evaluating the Safety and Efficacy of Rituximab in Patients With Myasthenia Gravis	Recruiting	NCT02950155	Phase 3	Rituximab;Sodium Chloride solution
29	Amifampridine Phosphate for the Treatment of Congenital Myasthenic Syndromes	Recruiting	NCT02562066	Phase 3	amifampridine phosphate;Placebo
30	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
31	Efficacy of Prednisone In the Treatment of Ocular Myasthenia	Terminated	NCT00995722	Phase 3	Prednisone;Placebo
32	Phase 3, Randomized, Safety, Lot Consistency and Clinical Benefit Study of Recombinant Botulinum Vaccine A/B	Withdrawn	NCT01940315	Phase 3
33	A Study to Evaluate the Efficacy of CV-MG01 (Myasterix) in Myasthenia Gravis	Withdrawn	NCT03165435	Phase 2, Phase 3
34	Ephedrine for the Treatment of Congenital Myasthenia	Unknown status	NCT00541216	Phase 1, Phase 2	Ephedrine
35	The Evaluation of Belimumab in Myasthenia Gravis (MG)	Completed	NCT01480596	Phase 2
36	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
37	Study to Test the Safety, Tolerability and Efficacy of UCB7665 in Subjects With Moderate to Severe Myasthenia Gravis.	Completed	NCT03052751	Phase 2	UCB7665
38	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
39	Safety, Tolerability and Immunogenic Response of CV-MG01 in Patients With Myasthenia Gravis	Completed	NCT02609022	Phase 1, Phase 2
40	Safety,Tolerability,Pharmacokinetics and Efficacy of CFZ533 in Moderate to Severe Myasthenia Gravis	Completed	NCT02565576	Phase 2	Placebo;CFZ533
41	Efficacy and Safety of IGIV-C in Corticosteroid Dependent Patients With Generalized Myasthenia Gravis	Completed	NCT02473965	Phase 2	IGIV-C;Placebo
42	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
43	Double Blind, Safety and Immunogenicity Study of Recombinant Botulinum Vaccine A/B	Completed	NCT00764634	Phase 2
44	BeatMG: Phase II Trial of Rituximab In Myasthenia Gravis	Completed	NCT02110706	Phase 2	Rituximab;Placebo
45	Effectiveness of 3,4-Diaminopyridine in Lambert-Eaton Myasthenic Syndrome	Completed	NCT01511978	Phase 2	Continuous 3,4-DAP;Taper 3,4-DAP to Placebo
46	Efficacy of Methotrexate in Myasthenia Gravis	Completed	NCT00814138	Phase 2	Methotrexate
47	Rituximab for the Treatment of Refractory Inflammatory Myopathies and Refractory Myasthenia Gravis	Completed	NCT00774462	Phase 2	Rituximab
48	A Pilot Trial of Rituxan in Refractory Myasthenia Gravis	Completed	NCT00619671	Phase 1, Phase 2	Rituximab (Rituxan)
49	The Safety and Efficacy of "3-Hole" Subxiphorid Approach in the Treatment of Anterior Mediastinal Tumor	Recruiting	NCT02317224	Phase 2
50	Tolerability and Immunogenicity of rBV A/B for the Production of BabyBIG®	Recruiting	NCT03676634	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

MalaCards organs/tissues related to Neuromuscular Junction Disease:

⁴²

Testes, Thymus

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Publications for Neuromuscular Junction Disease

Articles related to Neuromuscular Junction Disease:

#	Title	Authors	Year
1	Motor neuron, nerve, and neuromuscular junction disease. ( 21825986 )	Finsterer J...Auer-Grumbach M	2011
2	Neuromuscular junction disease or neuropathic disorder? ( 20581646 )	Messerli B...Robinson L	2010
3	Electrophysiology of neuromuscular junction disease: an appreciation of the contributions of Edward H. Lambert. ( 6302497 )	Simpson JA	1982

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Genes for Neuromuscular Junction Disease

Genes related to Neuromuscular Junction Disease (0 elite genes):

(show all 21)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	MUSK	Muscle Associated Receptor Tyrosine Kinase	Protein Coding	19.94	DISEASES inferred ¹⁵
2	RAPSN	Receptor Associated Protein Of The Synapse	Protein Coding	18.27	DISEASES inferred ¹⁵
3	DOK7	Docking Protein 7	Protein Coding	18.21	DISEASES inferred ¹⁵
4	COLQ	Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase	Protein Coding	18.18	DISEASES inferred ¹⁵
5	CHRNE	Cholinergic Receptor Nicotinic Epsilon Subunit	Protein Coding	18.01	DISEASES inferred ¹⁵
6	AGRN	Agrin	Protein Coding	17.95	DISEASES inferred ¹⁵
7	TTN	Titin	Protein Coding	17.69	DISEASES inferred ¹⁵
8	LRP4	LDL Receptor Related Protein 4	Protein Coding	17.65	DISEASES inferred ¹⁵
9	CHRNA1	Cholinergic Receptor Nicotinic Alpha 1 Subunit	Protein Coding	17.55	DISEASES inferred ¹⁵
10	OMG	Oligodendrocyte Myelin Glycoprotein	Protein Coding	17.26	DISEASES inferred ¹⁵
11	CHRND	Cholinergic Receptor Nicotinic Delta Subunit	Protein Coding	17.16	DISEASES inferred ¹⁵
12	CHRNB1	Cholinergic Receptor Nicotinic Beta 1 Subunit	Protein Coding	17.16	DISEASES inferred ¹⁵
13	KCNH1	Potassium Voltage-Gated Channel Subfamily H Member 1	Protein Coding	16.92	DISEASES inferred ¹⁵
14	ACHE	Acetylcholinesterase (Cartwright Blood Group)	Protein Coding	16.87	DISEASES inferred ¹⁵
15	DDX41	DEAD-Box Helicase 41	Protein Coding	16.75	DISEASES inferred ¹⁵
16	TNFRSF25	TNF Receptor Superfamily Member 25	Protein Coding	16.55	DISEASES inferred ¹⁵
17	IQGAP1	IQ Motif Containing GTPase Activating Protein 1	Protein Coding	16.36	DISEASES inferred ¹⁵
18	BCHE	Butyrylcholinesterase	Protein Coding	16.27	DISEASES inferred ¹⁵
19	KCNA4	Potassium Voltage-Gated Channel Subfamily A Member 4	Protein Coding	16.16	DISEASES inferred ¹⁵
20	TMPO	Thymopoietin	Protein Coding	15.92	DISEASES inferred ¹⁵
21	CTLA4	Cytotoxic T-Lymphocyte Associated Protein 4	Protein Coding	5.89	DISEASES inferred ¹⁵

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Variations for Neuromuscular Junction Disease

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Expression for Neuromuscular Junction Disease

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

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Pathways for Neuromuscular Junction Disease

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

#	Super pathways	Score	Top Affiliating Genes
1	Transmission across Chemical Synapses ⁶⁷ Show member pathways Neuronal System ⁶⁷ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁷	12.55	ACHE BCHE CHRNA1 CHRND CHRNE KCNA4
2	ECM proteoglycans ⁶⁷	11.19	AGRN LRP4 MUSK
3	Agrin Interactions at Neuromuscular Junction ⁶⁵	11.01	AGRN CHRNA1 MUSK RAPSN
4	Neurotransmitter Clearance In The Synaptic Cleft ⁶⁷ Show member pathways Dopamine clearance from the synaptic cleft ⁶⁷ Enzymatic degradation of dopamine by COMT ⁶⁷ Enzymatic degradation of Dopamine by monoamine oxidase ⁶⁷ L-dopa degradation ¹ melatonin degradation II ¹ Metabolism of serotonin ⁶⁷ Serotonin clearance from the synaptic cleft ⁶⁷	10.75	ACHE BCHE
5	Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics ⁶²	10.1	BCHE CHRNA1 CHRNB1 CHRND CHRNE

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GO Terms for Neuromuscular Junction Disease

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	9.9	ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE
2	neuron projection	GO:0043005	9.88	CHRNA1 CHRNB1 CHRND CHRNE IQGAP1
3	postsynaptic membrane	GO:0045211	9.8	CHRNA1 CHRNB1 CHRND CHRNE KCNH1 MUSK
4	synapse	GO:0045202	9.7	ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE
5	basement membrane	GO:0005604	9.67	ACHE AGRN COLQ
6	acetylcholine-gated channel complex	GO:0005892	9.62	CHRNA1 CHRNB1 CHRND CHRNE
7	integral component of postsynaptic specialization membrane	GO:0099060	9.61	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 BCHE CHRNA1 CHRNB1 CHRND
11	plasma membrane	GO:0005886	10.27	ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE
12	integral component of plasma membrane	GO:0005887	10.06	CHRNA1 CHRNB1 CHRND CHRNE KCNA4 KCNH1

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

(show all 20)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transmembrane transport	GO:0034220	9.93	CHRNA1 CHRNB1 CHRND CHRNE KCNH1
2	chemical synaptic transmission	GO:0007268	9.91	CHRNA1 CHRNB1 CHRND CHRNE RAPSN
3	muscle contraction	GO:0006936	9.83	CHRNB1 CHRND CHRNE TTN
4	cation transport	GO:0006812	9.76	CHRNA1 CHRNB1 CHRND
5	excitatory postsynaptic potential	GO:0060079	9.76	CHRNA1 CHRNB1 CHRND CHRNE
6	nervous system process	GO:0050877	9.73	CHRNA1 CHRNB1 CHRND CHRNE
7	regulation of membrane potential	GO:0042391	9.72	CHRNA1 CHRNB1 CHRND CHRNE KCNH1
8	regulation of postsynaptic membrane potential	GO:0060078	9.71	CHRNA1 CHRNB1 CHRND CHRNE
9	skeletal muscle contraction	GO:0003009	9.65	CHRNA1 CHRNB1 CHRND
10	negative regulation of axonogenesis	GO:0050771	9.59	LRP4 OMG
11	neurotransmitter catabolic process	GO:0042135	9.58	ACHE COLQ
12	musculoskeletal movement	GO:0050881	9.56	CHRNA1 CHRND
13	response to nicotine	GO:0035094	9.56	CHRNA1 CHRNB1 CHRND CHRNE
14	skeletal muscle tissue growth	GO:0048630	9.55	CHRNA1 CHRND
15	skeletal muscle acetylcholine-gated channel clustering	GO:0071340	9.54	COLQ LRP4 MUSK
16	acetylcholine catabolic process in synaptic cleft	GO:0001507	9.49	ACHE COLQ
17	neuromuscular synaptic transmission	GO:0007274	9.46	CHRNA1 CHRNB1 CHRND CHRNE
18	regulation of synaptic growth at neuromuscular junction	GO:0008582	9.13	AGRN COLQ MUSK
19	synaptic transmission, cholinergic	GO:0007271	9.02	CHRNA1 CHRNB1 CHRND CHRNE RAPSN
20	ion transport	GO:0006811	10.04	CHRNA1 CHRNB1 CHRND CHRNE KCNA4 KCNH1

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion channel activity	GO:0005216	9.8	CHRNA1 CHRNB1 CHRND CHRNE KCNH1
2	extracellular ligand-gated ion channel activity	GO:0005230	9.67	CHRNA1 CHRNB1 CHRND CHRNE
3	transmembrane signaling receptor activity	GO:0004888	9.65	CHRNA1 CHRNB1 CHRND
4	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	GO:1904315	9.56	CHRNA1 CHRNB1 CHRND CHRNE
5	laminin binding	GO:0043236	9.49	ACHE AGRN
6	cholinesterase activity	GO:0004104	9.46	ACHE BCHE
7	acetylcholine-gated cation-selective channel activity	GO:0022848	9.46	CHRNA1 CHRNB1 CHRND CHRNE
8	acetylcholinesterase activity	GO:0003990	9.43	ACHE BCHE
9	ligand-gated ion channel activity	GO:0015276	9.32	CHRNB1 CHRND
10	acetylcholine receptor activity	GO:0015464	9.26	CHRNA1 CHRNB1 CHRND CHRNE
11	acetylcholine binding	GO:0042166	9.02	ACHE CHRNA1 CHRNB1 CHRND CHRNE

Sources

Sources for Neuromuscular Junction Disease

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia