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

MalaCards based summary: Neuromuscular Junction Disease, also known as neuromuscular junction diseases, is related to lambert-eaton myasthenic syndrome and myasthenia gravis. An important gene associated with Neuromuscular Junction Disease is DOK7 (Docking Protein 7), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Transmission across Chemical Synapses. The drugs Sevoflurane and Propofol have been mentioned in the context of this disorder. Affiliated tissues include thymus, and related phenotypes are Increased shRNA abundance (Z-score > 2) and nervous system

Wikipedia: ⁷⁵ 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 in the Neuromuscular Junction Disease family:

Acquired Neuromuscular Junction Disease

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

(show top 50) (show all 69)

#	Related Disease	Score	Top Affiliating Genes
1	lambert-eaton myasthenic syndrome	32.0	SYT2 SOX1 MUSK
2	myasthenia gravis	31.5	RAPSN MUSK LRP4 DOK7 CHRNG CHRNE
3	congenital myasthenic syndrome	30.1	SYT2 SCN4A RAPSN PREPL MUSK LRP4
4	amyotrophic lateral sclerosis 1	30.1	SCN4A MUSK DOK7 CHRND AGRN ACHE
5	foodborne botulism	11.4
6	immune-mediated acquired neuromuscular junction disease	11.3
7	acquired neuromuscular junction disease	11.3
8	genetic neuromuscular junction disease	11.3
9	intestinal botulism	11.1
10	wound botulism	11.1
11	infant botulism	11.1
12	adult intestinal botulism	11.1
13	inhalational botulism	11.1
14	iatrogenic botulism	11.1
15	toxin-mediated infectious botulism	11.1
16	brain angioma	10.3	CHRNE CHRND CHRNA1
17	myasthenic syndrome, congenital, 1b, fast-channel	10.3	CHRNE CHRND CHRNA1
18	congenital muscular dystrophy-dystroglycanopathy a14	10.3	GMPPB ALG14
19	cystic lymphangioma	10.2	RAPSN CHRNG CHRND
20	presynaptic congenital myasthenic syndromes	10.2	SYT2 AGRN
21	internuclear ophthalmoplegia	10.2	MUSK LRP4 COLQ
22	autoimmune disease of peripheral nervous system	10.2	SOX1 MUSK AGRN
23	polyhydramnios	10.2	RAPSN MUSK DOK7
24	congenital myasthenic syndrome associated with acetylcholine receptor deficiency	10.2	RAPSN MUSK GFPT1 CHRNE
25	myasthenic syndrome, congenital, 4b, fast-channel	10.2	CHRNG CHRNE
26	myasthenic syndrome, congenital, 21, presynaptic	10.2	GFPT1 DPAGT1 DOK7 COLQ
27	thymus gland disease	10.2	MUSK LRP4 AGRN
28	thymus cancer	10.2	MUSK LRP4 AGRN
29	developmental and epileptic encephalopathy 47	10.2	PREPL ACHE
30	oligohydramnios	10.2	CHRNG CHRND CHRNA1
31	myasthenic syndrome, congenital, 15	10.2	DPAGT1 ALG14
32	myasthenic syndrome, congenital, 1a, slow-channel	10.2	CHRNB1 CHRNA1
33	myasthenic syndrome, congenital, 10	10.2	MUSK DOK7
34	ocular motility disease	10.2	RAPSN MUSK DOK7 COLQ CHRNE
35	multiple pterygium syndrome, lethal type	10.2	RAPSN CHRNG CHRND CHRNA1
36	congenital myasthenic syndromes with glycosylation defect	10.2	GMPPB GFPT1 DPAGT1 ALG14
37	myasthenic syndrome, congenital, 2a, slow-channel	10.2	COLQ CHRNE CHRND CHRNB1 CHRNA1
38	myasthenic syndrome, congenital, 6, presynaptic	10.1	RAPSN COLQ CHRNE CHRND ACHE
39	tobacco addiction	10.1	CHRNG CHRND CHRNB1 CHRNA1
40	sclerosteosis 2	10.1	RAPSN MUSK LRP4 DOK7 AGRN
41	myasthenic syndrome, congenital, 12	10.1	RAPSN GFPT1 DPAGT1 DOK7 ALG14
42	walker-warburg syndrome	10.1	GMPPB DPAGT1 ALG14 AGRN
43	paramyotonia congenita of von eulenburg	10.1	SCN4A CHRNE CHRND CHRNB1 CHRNA1
44	myasthenic syndrome, congenital, 14	10.1	DOK7 COLQ CHRNE CHRND CHRNB1 ALG14
45	hyperkalemic periodic paralysis	10.1	SCN4A RAPSN CHRNE CHRND CHRNB1 CHRNA1
46	lateral sclerosis	10.1
47	neonatal myasthenia gravis	10.0	RAPSN MUSK LRP4 COLQ CHRNG AGRN
48	cenani-lenz syndactyly syndrome	10.0	SCN4A RAPSN MUSK LRP4 DOK7 CHRNE
49	muscular dystrophy-dystroglycanopathy , type b, 1	10.0	GMPPB AGRN
50	congenital ptosis	10.0	RAPSN LRP4 COLQ CHRNG CHRND ACHE

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:

²⁵ (show all 27)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	9.83	CHRNA1
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-146	9.83	PREPL
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-155	9.83	CHRNA1
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-161	9.83	MUSK
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-168	9.83	CHRNA1
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-175	9.83	MUSK
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	9.83	PREPL
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-182	9.83	CHRNG PREPL
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-190	9.83	CHRNG
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-199	9.83	MUSK
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-204	9.83	PREPL
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-206	9.83	CHRNG
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-207	9.83	PREPL
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-208	9.83	MUSK
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-213	9.83	PREPL
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-32	9.83	CHRNA1 CHRNG PREPL
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-40	9.83	CHRNG
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.83	CHRNA1
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-43	9.83	PREPL
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-46	9.83	CHRNA1 MUSK
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-49	9.83	PREPL
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-50	9.83	PREPL
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-57	9.83	CHRNA1
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.83	CHRNA1 MUSK
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-73	9.83	CHRNA1
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-77	9.83	PREPL
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.83	MUSK

MGI Mouse Phenotypes related to Neuromuscular Junction Disease:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.24	ACHE AGRN CHRNA1 CHRNB1 CHRNE CHRNG
2	muscle	MP:0005369	10.1	ACHE AGRN CHRNE CHRNG DOK7 GFPT1
3	growth/size/body region	MP:0005378	10.1	ACHE AGRN CHRND CHRNE CHRNG COLQ
4	behavior/neurological	MP:0005386	10	ACHE AGRN CHRNA1 CHRNE CHRNG COLQ
5	respiratory system	MP:0005388	9.61	ACHE AGRN CHRNE CHRNG DOK7 LRP4
6	mortality/aging	MP:0010768	9.58	ACHE AGRN ALG14 CHRNA1 CHRND CHRNE

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Drugs & Therapeutics for Neuromuscular Junction Disease

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

(show all 9)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Sevoflurane

Approved, Vet_approved

Phase 3

28523-86-6

5206

2

Propofol

Approved, Investigational, Vet_approved

Phase 3

2078-54-8

4943

3

Platelet Aggregation Inhibitors

Phase 3

4

Anesthetics, Intravenous

Phase 3

5

Anesthetics, Inhalation

Phase 3

6

Anesthetics, General

Phase 3

7

Anesthetics

Phase 3

8

Hypnotics and Sedatives

Phase 3

9

Rocuronium

Approved

119302-91-9, 143558-00-3

441290

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Influence of Sevoflurane and Propofol on Maximum Muscular Strength, Speed of Contraction and Relaxation, in Humans: A Pilot Study	Not yet recruiting	NCT05615025	Phase 3	Sevoflurane;Propofol
2	Effect of Type II Diabetes Mellitus With Neuropathy on the Clinical Use of Rocuronium: A Pharmacodynamic Modelling Study	Unknown status	NCT03737942
3	Predictors and Prognostic Factors of Myasthenia Gravis Outcome	Recruiting	NCT05214612

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

Organs/tissues related to Neuromuscular Junction Disease:

MalaCards : Thymus

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Publications for Neuromuscular Junction Disease

Articles related to Neuromuscular Junction Disease:

(show all 26)

#	Title	Authors	PMID	Year
1	Seronegative Ocular Myasthenia Gravis in an Older Woman With Transient Dizziness and Diplopia. ⁶²	Yoshioka N...Ohta R	36106280	2022
2	Age at sampling and sex distribution of AChRAb vs. MuSKAb myasthenia gravis in a large Greek population. ⁶²	Belimezi M...Chrousos GP	34343914	2021
3	Myasthenia Gravis-An Analysis of Multimodal Evoked Potentials. ⁶²	Dziadkowiak E...Ejma M	34439676	2021
4	Dual attack: targeting the rare co-occurrence of myasthenia gravis and Graves' disease with radioactive iodine therapy. ⁶²	Arcellana AES...Buenaluz-Sedurante M	34196278	2021
5	Acquired myasthenia gravis with concurrent polymyositis and myocarditis secondary to a thymoma in a dog. ⁶²	Perillo R...Gasparini S	34722208	2021
6	An investigation on the effects of carbamazepine and sodium valproate on neuromuscular transmission. ⁶²	Ay H...Ethemoglu O	28940165	2020
7	Paraneoplastic Syndromes in Neuro-ophthalmology. ⁶²	Gordon L...Dinkin M	31584543	2019
8	Clinical neurophysiology of neuromuscular junction disease. ⁶²	Juel VC	31307607	2019
9	Single fiber electromyography. ⁶²	Juel VC	31277856	2019
10	Clinical Image: Leriche Syndrome. ⁶²	Zhang PI...Liao YY	32995207	2018
11	Analysis of TNF-related apoptosis-inducing ligand and receptors and implications in thymus biology and myasthenia gravis. ⁶²	Kanatli I...Sanlioglu AD	28012741	2017
12	Acute lower motor neuron tetraparesis. ⁶²	Anor S	25441630	2014
13	Technical tips: methods of warming and maintaining limb temperature during nerve conduction studies. ⁶²	Morris J	24046972	2013
14	Myasthenia gravis in the elderly: a rare cause of undernutrition. ⁶²	Petit A...Hommet C	23238315	2012
15	Motor neuron, nerve, and neuromuscular junction disease. ⁶²	Finsterer J...Auer-Grumbach M	21825986	2011
16	Lambert-Eaton myasthenic syndrome and follicular thymic hyperplasia in systemic lupus erythematosus. ⁶²	Pasqualoni E...Papo T	21427136	2011
17	Thymoma in myasthenia gravis: from diagnosis to treatment. ⁶²	Romi F	21860784	2011
18	Neuromuscular junction disease or neuropathic disorder? ⁶²	Messerli B...Robinson L	20581646	2010
19	Research advancement in immunopathogenesis of myasthenia gravis. ⁶²	Huang S...Tan LM	20101276	2010
20	Lambert-eaton myasthenic syndrome. ⁶²	Weimer MB...Wong J	19210909	2009
21	[Misleading presentation of rhombencephalitis due to Listeria monocytogenes]. ⁶²	Gutierrez-Gutierrez G...Marti Masso JF	16317592	2005
22	Advances in the diagnosis of neuromuscular junction disorders. ⁶²	Meriggioli MN...Sanders DB	16034233	2005
23	The value of basic science in clinical diagnosis: creating coherence among signs and symptoms. ⁶²	Woods NN...Norman GR	15612907	2005
24	Myasthenia gravis and lymphoblastic lymphoma involving the thymus: a rare association. ⁶²	Uner AH...Guler N	11699420	2001
25	Binocular vertical diplopia. ⁶²	Brazis PW...Lee AG	9443680	1998
26	Electrophysiology of neuromuscular junction disease: an appreciation of the contributions of Edward H. Lambert. ⁶²	Simpson JA	6302497	1982

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Genes for Neuromuscular Junction Disease

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

(show all 33)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	DOK7	Docking Protein 7	Protein Coding	9.29	DISEASES inferred ¹⁴
2	RAPSN	Receptor Associated Protein Of The Synapse	Protein Coding	9.14	DISEASES inferred ¹⁴
3	COLQ	Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase	Protein Coding	9.02	DISEASES inferred ¹⁴
4	MUSK	Muscle Associated Receptor Tyrosine Kinase	Protein Coding	8.9	DISEASES inferred ¹⁴
5	CHRNE	Cholinergic Receptor Nicotinic Epsilon Subunit	Protein Coding	8.8	DISEASES inferred ¹⁴
6	AGRN	Agrin	Protein Coding	8.27	DISEASES inferred ¹⁴
7	CHRNA1	Cholinergic Receptor Nicotinic Alpha 1 Subunit	Protein Coding	7.94	DISEASES inferred ¹⁴
8	CHRND	Cholinergic Receptor Nicotinic Delta Subunit	Protein Coding	7.91	DISEASES inferred ¹⁴
9	SCN4A	Sodium Voltage-Gated Channel Alpha Subunit 4	Protein Coding	7.78	DISEASES inferred ¹⁴
10	GFPT1	Glutamine--Fructose-6-Phosphate Transaminase 1	Protein Coding	7.71	DISEASES inferred ¹⁴
11	CHRNB1	Cholinergic Receptor Nicotinic Beta 1 Subunit	Protein Coding	7.67	DISEASES inferred ¹⁴
12	ALG14	ALG14 UDP-N-Acetylglucosaminyltransferase Subunit	Protein Coding	7.65	DISEASES inferred ¹⁴
13	DPAGT1	Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 1	Protein Coding	7.6	DISEASES inferred ¹⁴
14	GMPPB	GDP-Mannose Pyrophosphorylase B	Protein Coding	7.56	DISEASES inferred ¹⁴
15	ACHE	Acetylcholinesterase (Cartwright Blood Group)	Protein Coding	7.36	DISEASES inferred ¹⁴
16	SOX1	SRY-Box Transcription Factor 1	Protein Coding	7.18	DISEASES inferred ¹⁴
17	CHRNG	Cholinergic Receptor Nicotinic Gamma Subunit	Protein Coding	7.04	DISEASES inferred ¹⁴
18	PREPL	Prolyl Endopeptidase Like	Protein Coding	7.04	DISEASES inferred ¹⁴
19	SYT2	Synaptotagmin 2	Protein Coding	6.97	DISEASES inferred ¹⁴
20	LRP4	LDL Receptor Related Protein 4	Protein Coding	6.92	DISEASES inferred ¹⁴
21	CHAT	Choline O-Acetyltransferase	Protein Coding	6.9	DISEASES inferred ¹⁴
22	AMPH	Amphiphysin	Protein Coding	6.89	DISEASES inferred ¹⁴
23	DPYSL5	Dihydropyrimidinase Like 5	Protein Coding	6.84	DISEASES inferred ¹⁴
24	COL13A1	Collagen Type XIII Alpha 1 Chain	Protein Coding	6.8	DISEASES inferred ¹⁴
25	DAG1	Dystroglycan 1	Protein Coding	6.47	DISEASES inferred ¹⁴
26	BCHE	Butyrylcholinesterase	Protein Coding	6.45	DISEASES inferred ¹⁴
27	RYR1	Ryanodine Receptor 1	Protein Coding	6.42	DISEASES inferred ¹⁴
28	MYO9A	Myosin IXA	Protein Coding	6.38	DISEASES inferred ¹⁴
29	LGI1	Leucine Rich Glioma Inactivated 1	Protein Coding	6.37	DISEASES inferred ¹⁴
30	PNMA2	PNMA Family Member 2	Protein Coding	6.36	DISEASES inferred ¹⁴
31	TTN	Titin	Protein Coding	6.28	DISEASES inferred ¹⁴
32	SLC18A3	Solute Carrier Family 18 Member A3	Protein Coding	6.22	DISEASES inferred ¹⁴
33	VAMP1	Vesicle Associated Membrane Protein 1	Protein Coding	6.18	DISEASES inferred ¹⁴

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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	Nanog in Mammalian ESC Pluripotency ⁶⁴ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶⁴ eNOS Signaling ⁶⁴ GSK3 Signaling ⁶⁴	12.89	MUSK CHRNG CHRNE CHRND CHRNB1 CHRNA1
2	Transmission across Chemical Synapses ⁶⁶ Show member pathways Neuronal System ⁶⁶ Neurotransmitter receptors and postsynaptic signal transmission ⁶⁶	12.75	SYT2 CHRNG CHRNE CHRND CHRNA1 ACHE
3	Synthesis of substrates in N-glycan biosythesis ⁶⁶ Show member pathways Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein ⁶⁶ Defective DHDDS causes RP59 ⁶⁶ Defective DOLK causes DOLK-CDG ⁶⁶ Defective MPI causes MPI-CDG ⁶⁶ Defective PMM2 causes PMM2-CDG ⁶⁶ Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C) ⁶⁶ Defective SRD5A3 causes SRD5A3-CDG, KHRZ ⁶⁶ GDP-fucose biosynthesis ⁶⁶ Sialic acid metabolism ⁶⁶ Synthesis of Dolichyl-phosphate ⁶⁶ Synthesis of dolichyl-phosphate-glucose ⁶⁶ Synthesis of GDP-mannose ⁶⁶ Synthesis of UDP-N-acetyl-glucosamine ⁶⁶	11.88	GMPPB GFPT1 DPAGT1 ALG14
4	ECM proteoglycans ⁶⁶ Show member pathways Integrin cell surface interactions ⁶⁶ MED and pseudoachondroplasia genes ⁷⁴	11.8	MUSK LRP4 AGRN
5	Postsynaptic nicotinic acetylcholine receptors ⁶⁶ Show member pathways Acetylcholine binding and downstream events ⁶⁶ Highly calcium permeable nicotinic acetylcholine receptors ⁶⁶ Highly calcium permeable postsynaptic nicotinic acetylcholine receptors ⁶⁶ Highly sodium permeable postsynaptic acetylcholine nicotinic receptors ⁶⁶ Presynaptic nicotinic acetylcholine receptors ⁶⁶	11.3	CHRNG CHRNE CHRND CHRNA1
6	Agrin Interactions at Neuromuscular Junction ⁶⁴	11.01	RAPSN MUSK CHRNA1 AGRN
7	Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10	CHRNE CHRND CHRNB1 CHRNA1

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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 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016020	10.58	SYT2 SCN4A MUSK LRP4 DPAGT1 CHRNG
2	membrane	GO:0016021	10.58	SYT2 SCN4A MUSK LRP4 DPAGT1 CHRNG
3	plasma membrane	GO:0005886	10.5	SCN4A MUSK CHRNG CHRNE CHRND CHRNB1
4	plasma membrane	GO:0005887	10.5	SCN4A MUSK CHRNG CHRNE CHRND CHRNB1
5	neuron projection	GO:0043005	10.19	CHRNG CHRNE CHRND CHRNB1 CHRNA1
6	synapse	GO:0045202	9.96	ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE
7	postsynaptic membrane	GO:0045211	9.93	CHRNA1 CHRNB1 CHRND CHRNE CHRNG MUSK
8	acetylcholine-gated channel complex	GO:0005892	9.86	CHRNE CHRND CHRNB1 CHRNA1
9	anchoring junction	GO:0070161	9.85	CHRNA1 CHRNB1 CHRND CHRNG MUSK
10	cellular anatomical entity	GO:0110165	9.8	CHRNA1 CHRNB1 CHRND CHRNE CHRNG
11	postsynaptic specialization membrane	GO:0099634	9.72	RAPSN CHRND CHRNB1 CHRNA1
12	neuromuscular junction	GO:0031594	9.58	RAPSN MUSK LRP4 COLQ CHRNE CHRND
13	obsolete integral component of postsynaptic specialization membrane	GO:0099060	9.54	CHRND CHRNB1 CHRNA1

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

(show all 20)

#	Name	GO ID	Score	Top Affiliating Genes
1	chemical synaptic transmission	GO:0007268	10.23	RAPSN CHRNG CHRNE CHRND CHRNB1 CHRNA1
2	monoatomic ion transmembrane transport	GO:0034220	10.19	CHRNG CHRNE CHRND CHRNB1 CHRNA1
3	regulation of membrane potential	GO:0042391	10.13	CHRNA1 CHRNB1 CHRND CHRNE CHRNG
4	monoatomic cation transport	GO:0006812	10.05	CHRND CHRNB1 CHRNA1
5	excitatory postsynaptic potential	GO:0060079	10.02	CHRNG CHRNE CHRND CHRNB1 CHRNA1
6	neuromuscular junction development	GO:0007528	10.01	MUSK DOK7 CHRNA1 AGRN
7	monoatomic ion transport	GO:0006811	10	SCN4A CHRNG CHRNE CHRND CHRNB1 CHRNA1
8	skeletal muscle contraction	GO:0003009	9.99	CHRNA1 CHRNB1 CHRND
9	muscle contraction	GO:0006936	9.96	CHRNB1 CHRND CHRNE CHRNG SCN4A
10	acetylcholine receptor signaling pathway	GO:0095500	9.89	CHRND ACHE
11	musculoskeletal movement	GO:0050881	9.87	CHRND CHRNA1
12	UDP-N-acetylglucosamine metabolic process	GO:0006047	9.86	GFPT1 DPAGT1
13	regulation of synaptic assembly at neuromuscular junction	GO:0008582	9.85	MUSK COLQ
14	skeletal muscle acetylcholine-gated channel clustering	GO:0071340	9.85	MUSK LRP4 COLQ
15	nervous system process	GO:0050877	9.85	CHRNG CHRNE CHRND CHRNB1 CHRNA1
16	skeletal muscle tissue growth	GO:0048630	9.84	CHRND CHRNA1
17	acetylcholine catabolic process in synaptic cleft	GO:0001507	9.78	COLQ ACHE
18	neurotransmitter catabolic process	GO:0042135	9.58	COLQ ACHE
19	regulation of postsynaptic membrane potential	GO:0060078	9.35	CHRNG CHRNE CHRND CHRNB1 CHRNA1
20	synaptic transmission, cholinergic	GO:0007271	9.32	RAPSN CHRNG CHRNE CHRNB1 CHRNA1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	neurotransmitter receptor activity	GO:0030594	10.13	CHRNG CHRNE CHRND CHRNB1 CHRNA1
2	transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	GO:1904315	10.1	CHRNG CHRNE CHRND CHRNB1 CHRNA1
3	excitatory extracellular ligand-gated monoatomic ion channel activity	GO:0005231	10.02	CHRNA1 CHRNB1 CHRND CHRNE CHRNG
4	acetylcholine receptor activity	GO:0015464	9.97	CHRNG CHRNE CHRNB1 CHRNA1
5	transmembrane signaling receptor activity	GO:0004888	9.93	CHRNG CHRNE CHRND CHRNB1 CHRNA1
6	monoatomic ion channel activity	GO:0005216	9.8	SCN4A CHRNG CHRNE CHRND CHRNB1 CHRNA1
7	acetylcholine binding	GO:0042166	9.76	CHRND CHRNB1 CHRNA1 ACHE
8	extracellular ligand-gated monoatomic ion channel activity	GO:0005230	9.35	CHRNG CHRNE CHRND CHRNB1 CHRNA1
9	acetylcholine-gated monoatomic cation-selective channel activity	GO:0022848	9.32	CHRNG CHRNE CHRND CHRNB1 CHRNA1

Sources

Sources for Neuromuscular Junction Disease

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: NRM006 MIFTS: 36	Neuromuscular Junction Disease Categories: Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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