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

MCID: NRM006 MIFTS: 38	Neuromuscular Junction Disease Categories: Neuronal diseases, Rare 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 ⁵⁸ ¹⁵

Neuromuscular Junction Diseases ⁴³ ⁷¹

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Diseases of myoneural junction and muscle

Myasthenia gravis and other myoneural disorders

Congenital and developmental myasthenia

Myasthenia gravis

Myoneural disorder, unspecified

Other specified myoneural disorders

Toxic myoneural disorders

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:439

MeSH ⁴³ D020511

MESH via Orphanet ⁴⁴ D020511

ICD10 via Orphanet ³³ G70.0 G70.1 G70.2 more

UMLS via Orphanet ⁷² C0751950

Orphanet ⁵⁸ ORPHA98491

UMLS ⁷¹ 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 myasthenia gravis. An important gene associated with Neuromuscular Junction Disease is ICOSLG (Inducible T Cell Costimulator Ligand), and among its related pathways/superpathways are Postsynaptic nicotinic acetylcholine receptors and Innate Lymphoid Cell Differentiation Pathways. The drugs Rocuronium and Neuromuscular Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, thymus and lung, and related phenotypes are mortality/aging and nervous system

Wikipedia : ⁷⁴ 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 296)

#	Related Disease	Score	Top Affiliating Genes
1	congenital myasthenic syndrome	31.4	TTN SERPINA3 RAPSN MUSK LRP4 DOK7
2	myasthenia gravis	30.7	TTN RAPSN MUSK LRP4 CHRNE CHRNA1
3	immune-mediated acquired neuromuscular junction disease	12.5
4	acquired neuromuscular junction disease	12.5
5	genetic neuromuscular junction disease	12.5
6	lambert-eaton myasthenic syndrome	11.6
7	sclerosteosis 2	10.7	RAPSN LRP4 DOK7
8	mikulicz disease	10.7	ICOSLG CD4 CCR6
9	chronic conjunctivitis	10.7	ICOSLG CD4 CCR6
10	acute proliferative glomerulonephritis	10.7	ICOSLG CD4 CCR6
11	nut allergy	10.7	ICOSLG CD4 CCR6
12	protoporphyria, erythropoietic, 1	10.7	RAPSN MUSK DOK7
13	cork-handlers' disease	10.7	CD8A CD4
14	igg4-related disease	10.7	ICOSLG CD4 CCR6
15	fetal akinesia deformation sequence 1	10.7	RAPSN MUSK DOK7
16	myasthenic syndrome, congenital, 19	10.7	CHRNE CHRND CHRNB1
17	syphilitic meningitis	10.7	CD8A CD4
18	gastric squamous cell carcinoma	10.7	SERPINA3 CCR6
19	multiple pterygium syndrome, lethal type	10.7	RAPSN CHRND CHRNA1
20	ventilation pneumonitis	10.7	CD8A CD4
21	bullous skin disease	10.7	ICOSLG CD4 CCR6
22	autoimmune vasculitis	10.7	H2AC18 CD4 CCR6
23	myasthenic syndrome, congenital, 21, presynaptic	10.7	DOK7 COLQ
24	diffuse infiltrative lymphocytosis syndrome	10.7	CD8A CD4
25	autoimmune lymphoproliferative syndrome, type iia	10.7	CD8A CD4
26	spongiotic dermatitis	10.7	CD8A CD4 CCR6
27	thrombocytopenic purpura, autoimmune	10.7	ICOSLG CD4 CCR6
28	common cold	10.7	ICOSLG CD4 CCR6
29	autoimmune neuropathy	10.7	ICOSLG DDX41 CD4
30	neonatal myasthenia gravis	10.7	MUSK LRP4 COLQ AGRN
31	dendritic cell thymoma	10.7	TTN CHRNA1 CD4
32	esophageal candidiasis	10.7	CD8A CD4 CCR6
33	pneumonic tularemia	10.7	CD8A CD4 CCR6
34	blastomycosis	10.7	CD8A CD4 CCR6
35	immune-complex glomerulonephritis	10.7	ICOSLG H2AC18 CD4
36	chromosome 14q11-q22 deletion syndrome	10.7	CD8A CD4
37	immunodeficiency with hyper-igm, type 3	10.7	ICOSLG CD8A CD4
38	diabetes mellitus, insulin-dependent, 23	10.7	CD8A CD4
39	cecal disease	10.7	SERPINA3 H2AC18 CCR6
40	t-cell adult acute lymphocytic leukemia	10.7	CD8A CD4 CCR6
41	adult acute lymphocytic leukemia	10.7	CD8A CD4 CCR6
42	primary systemic mycosis	10.7	CD8A CD4 CCR6
43	bird fancier's lung	10.7	CD8A CD4
44	pneumocystosis	10.7	CD8A CD4 CCR6
45	early yaws	10.7	CD8A CD4
46	plasma protein metabolism disease	10.7	SERPINA3 CD4 CCR6
47	blepharitis	10.7	CD8A CD4 CCR6
48	functional colonic disease	10.7	BCHE ACHE
49	latent syphilis	10.7	DDX41 CD4
50	gingival disease	10.7	SERPINA3 CD4 CCR6

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

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Symptoms & Phenotypes for Neuromuscular Junction Disease

MGI Mouse Phenotypes related to Neuromuscular Junction Disease:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	mortality/aging	MP:0010768	9.77	ACHE AGRN BCHE CD4 CD8A CHRNA1
2	nervous system	MP:0003631	9.4	ACHE AGRN CCR6 CD4 CD8A CHRNA1

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Drugs & Therapeutics for Neuromuscular Junction Disease

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

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Rocuronium

Approved

119302-91-9, 143558-00-3

441290

Synonyms:

(2beta,3alpha,5alpha,16beta,17beta)-17-acetoxy-16-(1-allylpyrrolidinium-1-yl)-3-hydroxy-2-(morpholin-4-yl)androstane

[(2S,3S,5S,8R,9S,10S,13S,14S,16S,17R)-3-hydroxy-10,13-dimethyl-2-morpholin-4-yl-16-(1-prop-2-enylpyrrolidin-1-ium-1-yl)-2,3,4,5,6,7,8,9,11,12,14,15,16,17-tetradecahydro-1H-cyclopenta[a]phenanthren-17-yl] acetate

1-(17-(Acetoyl)-3-hydroxy-2-(4-morpholinyl)androstan-16-yl)-1-(2-propenyl)pyrrolidinium

143558-00-3

AC1L9AWM

BIDD:GT0360

C07556

CHEBI:8884

CID441290

DB00728

Esmeron

Esmerone

HMS2090E03

NCGC00167433-01

Pyrrolidinium, 1-((2beta,3alpha,5alpha,16beta,17beta)-17-(acetyloxy)-3-hydroxy-2-(4-morpholinyl)androstan-16-yl)-1-(2-propenyl)-, bromide

Rocuronio

Rocuronium

Rocuronium bromide

Zemuron

Neuromuscular Agents

Neuromuscular Blocking Agents

Neuromuscular Nondepolarizing Agents

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Effect of Type II Diabetes Mellitus With Neuropathy on the Clinical Use of Rocuronium: A Pharmacodynamic Modelling Study	Recruiting	NCT03737942
2	The Impact of Myasthenia Gravis in the Real World	Not yet recruiting	NCT04176211

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:

⁴⁰

Skin, Thymus, Lung, T Cells, B Cells, Eye, Bone

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Publications for Neuromuscular Junction Disease

Articles related to Neuromuscular Junction Disease:

(show all 29)

#	Title	Authors	PMID	Year
1	Use of sugammadex in patients with neuromuscular disorders: a systematic review of case reports. ⁶¹	Gurunathan U...Stanton LML	31744470	2019
2	Paraneoplastic Syndromes in Neuro-ophthalmology. ⁶¹	Gordon L...Dinkin M	31584543	2019
3	Clinical neurophysiology of neuromuscular junction disease. ⁶¹	Juel VC	31307607	2019
4	Single fiber electromyography. ⁶¹	Juel VC	31277856	2019
5	Coexistence of myasthenia gravis and Lambert-Eaton myasthenic syndrome in a small cell lung cancer patient: A case report. ⁶¹	Jia R...Zhao Z	29879051	2018
6	Myasthenia Gravis and Crisis: Evaluation and Management in the Emergency Department. ⁶¹	Roper J...Koyfman A	28916122	2017
7	An investigation on the effects of carbamazepine and sodium valproate on neuromuscular transmission. ⁶¹	Ay H...Ethemoglu O	28940165	2017
8	Analysis of TNF-related apoptosis-inducing ligand and receptors and implications in thymus biology and myasthenia gravis. ⁶¹	Kanatli I...Sanlioglu AD	28012741	2017
9	Acute lower motor neuron tetraparesis. ⁶¹	Anor S	25441630	2014
10	Technical tips: methods of warming and maintaining limb temperature during nerve conduction studies. ⁶¹	Morris J	24046972	2013
11	Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy. ⁶¹	Eymard B...Stojkovic T	24021317	2013
12	Myasthenia gravis in the elderly: a rare cause of undernutrition. ⁶¹	Petit A...Hommet C	23238315	2012
13	[The pathophysiology and treatment of autoimmune neuromuscular junction diseases]. ⁶¹	Motomura M	22277398	2011
14	Motor neuron, nerve, and neuromuscular junction disease. ⁶¹	Finsterer J...Auer-Grumbach M	21825986	2011
15	Lambert-Eaton myasthenic syndrome and follicular thymic hyperplasia in systemic lupus erythematosus. ⁶¹	Pasqualoni E...Papo T	21427136	2011
16	Thymoma in myasthenia gravis: from diagnosis to treatment. ⁶¹	Romi F	21860784	2011
17	Neuromuscular junction disease or neuropathic disorder? ⁶¹	Messerli B...Robinson L	20581646	2010
18	Research advancement in immunopathogenesis of myasthenia gravis. ⁶¹	Huang S...Tan LM	20101276	2010
19	Lambert-eaton myasthenic syndrome. ⁶¹	Weimer MB...Wong J	19210909	2009
20	[Misleading presentation of rhombencephalitis due to Listeria monocytogenes]. ⁶¹	Gutierrez-Gutierrez G...Marti Masso JF	16317592	2005
21	Advances in the diagnosis of neuromuscular junction disorders. ⁶¹	Meriggioli MN...Sanders DB	16034233	2005
22	The value of basic science in clinical diagnosis: creating coherence among signs and symptoms. ⁶¹	Woods NN...Norman GR	15612907	2005
23	The role of readthrough acetylcholinesterase in the pathophysiology of myasthenia gravis. ⁶¹	Brenner T...Soreq H	12554700	2003
24	Myasthenia gravis and lymphoblastic lymphoma involving the thymus: a rare association. ⁶¹	Uner AH...Guler N	11699420	2001
25	[Electrodiagnosis of neuromuscular junction diseases]. ⁶¹	Chauplannaz G...Vial C	10693265	2000
26	Organ-specific autoantibodies with muscle weakness. ⁶¹	Al-Lozi M...Pestronk A	10551672	1999
27	Binocular vertical diplopia. ⁶¹	Brazis PW...Lee AG	9443680	1998
28	Neurological manifestations of the post-polio syndrome. ⁶¹	Jubelt B...Cashman NR	3315237	1987
29	Electrophysiology of neuromuscular junction disease: an appreciation of the contributions of Edward H. Lambert. ⁶¹	Simpson JA	6302497	1982

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Genes for Neuromuscular Junction Disease

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

(show all 48)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	10.23	DISEASES inferred ¹⁵ ¹⁵
2	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	9.88	DISEASES inferred ¹⁵ ¹⁵
3	MUSK	Muscle Associated Receptor Tyrosine Kinase	Protein Coding	9.83	DISEASES inferred ¹⁵
4	RAPSN	Receptor Associated Protein Of The Synapse	Protein Coding	8.72	DISEASES inferred ¹⁵
5	DOK7	Docking Protein 7	Protein Coding	8.7	DISEASES inferred ¹⁵
6	COLQ	Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase	Protein Coding	8.5	DISEASES inferred ¹⁵
7	CHRNE	Cholinergic Receptor Nicotinic Epsilon Subunit	Protein Coding	8.34	DISEASES inferred ¹⁵
8	AGRN	Agrin	Protein Coding	8.29	DISEASES inferred ¹⁵
9	CHRNA1	Cholinergic Receptor Nicotinic Alpha 1 Subunit	Protein Coding	8.08	DISEASES inferred ¹⁵
10	LRP4	LDL Receptor Related Protein 4	Protein Coding	7.84	DISEASES inferred ¹⁵
11	ACHE	Acetylcholinesterase (Cartwright Blood Group)	Protein Coding	7.81	DISEASES inferred ¹⁵
12	CHRND	Cholinergic Receptor Nicotinic Delta Subunit	Protein Coding	7.71	DISEASES inferred ¹⁵
13	CHRNB1	Cholinergic Receptor Nicotinic Beta 1 Subunit	Protein Coding	7.69	DISEASES inferred ¹⁵
14	H2AC18	H2A Clustered Histone 18	Protein Coding	7.65	DISEASES inferred ¹⁵ ¹⁵
15	CD4	CD4 Molecule	Protein Coding	7.6	DISEASES inferred ¹⁵
16	TTN	Titin	Protein Coding	7.58	DISEASES inferred ¹⁵
17	SERPINA3	Serpin Family A Member 3	Protein Coding	7.42	DISEASES inferred ¹⁵ ¹⁵
18	DDX41	DEAD-Box Helicase 41	Protein Coding	7.23	DISEASES inferred ¹⁵
19	CD8A	CD8a Molecule	Protein Coding	7.2	DISEASES inferred ¹⁵
20	BCHE	Butyrylcholinesterase	Protein Coding	7.19	DISEASES inferred ¹⁵
21	OMG	Oligodendrocyte Myelin Glycoprotein	Protein Coding	7.15	DISEASES inferred ¹⁵
22	SCN4A	Sodium Voltage-Gated Channel Alpha Subunit 4	Protein Coding	7.14	DISEASES inferred ¹⁵
23	CD40LG	CD40 Ligand	Protein Coding	7.09	DISEASES inferred ¹⁵
24	AQP4	Aquaporin 4	Protein Coding	7.05	DISEASES inferred ¹⁵
25	GFPT1	Glutamine--Fructose-6-Phosphate Transaminase 1	Protein Coding	7.02	DISEASES inferred ¹⁵
26	TNFRSF25	TNF Receptor Superfamily Member 25	Protein Coding	7	DISEASES inferred ¹⁵
27	CTLA4	Cytotoxic T-Lymphocyte Associated Protein 4	Protein Coding	6.94	DISEASES inferred ¹⁵
28	AIRE	Autoimmune Regulator	Protein Coding	6.89	DISEASES inferred ¹⁵
29	ALG14	ALG14 UDP-N-Acetylglucosaminyltransferase Subunit	Protein Coding	6.82	DISEASES inferred ¹⁵
30	DPYSL5	Dihydropyrimidinase Like 5	Protein Coding	6.8	DISEASES inferred ¹⁵
31	FOXP3	Forkhead Box P3	Protein Coding	6.76	DISEASES inferred ¹⁵
32	ANKRD49	Ankyrin Repeat Domain 49	Protein Coding	6.75	DISEASES inferred ¹⁵
33	DPAGT1	Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 1	Protein Coding	6.72	DISEASES inferred ¹⁵
34	IL10	Interleukin 10	Protein Coding	6.72	DISEASES inferred ¹⁵
35	LGI1	Leucine Rich Glioma Inactivated 1	Protein Coding	6.7	DISEASES inferred ¹⁵
36	IL2	Interleukin 2	Protein Coding	6.67	DISEASES inferred ¹⁵
37	PTPN22	Protein Tyrosine Phosphatase Non-Receptor Type 22	Protein Coding	6.66	DISEASES inferred ¹⁵
38	CHAT	Choline O-Acetyltransferase	Protein Coding	6.66	DISEASES inferred ¹⁵
39	GMPPB	GDP-Mannose Pyrophosphorylase B	Protein Coding	6.62	DISEASES inferred ¹⁵
40	AMPH	Amphiphysin	Protein Coding	6.61	DISEASES inferred ¹⁵
41	TNFSF13B	TNF Superfamily Member 13b	Protein Coding	6.6	DISEASES inferred ¹⁵
42	KCNA4	Potassium Voltage-Gated Channel Subfamily A Member 4	Protein Coding	6.6	DISEASES inferred ¹⁵
43	CNTNAP2	Contactin Associated Protein 2	Protein Coding	6.6	DISEASES inferred ¹⁵
44	UBE2K	Ubiquitin Conjugating Enzyme E2 K	Protein Coding	6.56	DISEASES inferred ¹⁵
45	ALB	Albumin	Protein Coding	6.53	DISEASES inferred ¹⁵
46	CHRNG	Cholinergic Receptor Nicotinic Gamma Subunit	Protein Coding	6.53	DISEASES inferred ¹⁵
47	IL17A	Interleukin 17A	Protein Coding	6.5	DISEASES inferred ¹⁵
48	IL4	Interleukin 4	Protein Coding	6.49	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	Postsynaptic nicotinic acetylcholine receptors ⁶⁵ Show member pathways Acetylcholine Binding And Downstream Events ⁶⁵ Activation of Nicotinic Acetylcholine Receptors ⁶⁵ Highly calcium permeable nicotinic acetylcholine receptors ⁶⁵ Highly calcium permeable postsynaptic nicotinic acetylcholine receptors ⁶⁵ Highly sodium permeable acetylcholine nicotinic receptors ⁶⁵ Presynaptic nicotinic acetylcholine receptors ⁶⁵	11.41	CHRNE CHRND CHRNA1
2	Innate Lymphoid Cell Differentiation Pathways ⁶⁴	11.34	CD8A CD4 CCR6
3	ECM proteoglycans ⁶⁵	11.09	MUSK LRP4 AGRN
4	Agrin Interactions at Neuromuscular Junction ⁶³	11.01	RAPSN MUSK CHRNA1 AGRN
5	Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10.1	CHRNE CHRND CHRNB1 CHRNA1 BCHE

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GO Terms for Neuromuscular Junction Disease

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

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016020	10.36	RAPSN MUSK LRP4 ICOSLG DOK7 DDX41
2	plasma membrane	GO:0005886	10.28	RAPSN MUSK LRP4 ICOSLG DOK7 COLQ
3	integral component of plasma membrane	GO:0005887	10.03	MUSK CHRNE CHRND CHRNB1 CHRNA1 CD8A
4	postsynaptic membrane	GO:0045211	9.85	RAPSN MUSK CHRNE CHRND CHRNB1 CHRNA1
5	cell junction	GO:0030054	9.85	RAPSN MUSK DOK7 COLQ CHRNE CHRND
6	basement membrane	GO:0005604	9.65	COLQ AGRN ACHE
7	synapse	GO:0045202	9.65	RAPSN MUSK DOK7 COLQ CHRNE CHRND
8	integral component of postsynaptic specialization membrane	GO:0099060	9.62	CHRNE CHRND CHRNB1 CHRNA1
9	acetylcholine-gated channel complex	GO:0005892	9.56	CHRNE CHRND CHRNB1 CHRNA1
10	neuromuscular junction	GO:0031594	9.28	RAPSN MUSK LRP4 COLQ CHRNE CHRND

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

(show all 19)

#	Name	GO ID	Score	Top Affiliating Genes
1	chemical synaptic transmission	GO:0007268	9.88	RAPSN CHRNE CHRND CHRNB1 CHRNA1
2	muscle contraction	GO:0006936	9.83	TTN CHRNE CHRND CHRNB1
3	regulation of membrane potential	GO:0042391	9.81	CHRNE CHRND CHRNB1 CHRNA1
4	cation transport	GO:0006812	9.75	CHRND CHRNB1 CHRNA1
5	T cell activation	GO:0042110	9.73	ICOSLG CD8A CD4
6	excitatory postsynaptic potential	GO:0060079	9.73	CHRNE CHRND CHRNB1 CHRNA1
7	neuromuscular junction development	GO:0007528	9.72	MUSK CHRNA1 AGRN
8	regulation of postsynaptic membrane potential	GO:0060078	9.71	CHRNE CHRND CHRNB1 CHRNA1
9	skeletal muscle contraction	GO:0003009	9.67	CHRND CHRNB1 CHRNA1
10	nervous system process	GO:0050877	9.67	CHRNE CHRND CHRNB1 CHRNA1
11	response to nicotine	GO:0035094	9.62	CHRNE CHRND CHRNB1 CHRNA1
12	neurotransmitter catabolic process	GO:0042135	9.58	COLQ ACHE
13	musculoskeletal movement	GO:0050881	9.57	CHRND CHRNA1
14	skeletal muscle tissue growth	GO:0048630	9.54	CHRND CHRNA1
15	acetylcholine catabolic process in synaptic cleft	GO:0001507	9.46	COLQ ACHE
16	neuromuscular synaptic transmission	GO:0007274	9.46	CHRNE CHRND CHRNB1 CHRNA1
17	skeletal muscle acetylcholine-gated channel clustering	GO:0071340	9.43	MUSK LRP4 COLQ
18	regulation of synaptic growth at neuromuscular junction	GO:0008582	9.13	MUSK COLQ AGRN
19	synaptic transmission, cholinergic	GO:0007271	9.02	RAPSN CHRNE CHRND CHRNB1 CHRNA1

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	9.76	CHRND CHRNB1 CHRNA1 CD4
2	ion channel activity	GO:0005216	9.73	CHRNE CHRND CHRNB1 CHRNA1
3	extracellular ligand-gated ion channel activity	GO:0005230	9.62	CHRNE CHRND CHRNB1 CHRNA1
4	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	GO:1904315	9.56	CHRNE CHRND CHRNB1 CHRNA1
5	acetylcholine-gated cation-selective channel activity	GO:0022848	9.46	CHRNE CHRND CHRNB1 CHRNA1
6	cholinesterase activity	GO:0004104	9.4	BCHE ACHE
7	acetylcholinesterase activity	GO:0003990	9.37	BCHE ACHE
8	acetylcholine receptor activity	GO:0015464	9.26	CHRNE CHRND CHRNB1 CHRNA1
9	acetylcholine binding	GO:0042166	9.02	CHRNE CHRND CHRNB1 CHRNA1 ACHE

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Sources for Neuromuscular Junction Disease

¹ BioSystems

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⁵¹ NIH Clinical Center

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⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

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⁷⁴ Wikipedia