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GENE - TERM ANNOTATION REPORT

RGD ID: 2353
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Chrne
Name: cholinergic receptor nicotinic epsilon subunit
Acc ID: DOID:3635
Term: congenital myasthenic syndrome
Definition: A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
Definition Source(s): MESH:D020294, http://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:7341068554872ClinVarClinVar Annotator: match by term: Congenital myasthenic syndrome

 
 ISORGD:7341068554872ClinVarClinVar Annotator: match by term: Congenital myasthenic syndrome

PMID:10496269, PMID:10514102, PMID:10534268, PMID:15322984, PMID:15367858, PMID:25326635, PMID:25741868, PMID:26467025, PMID:27634344, PMID:28492532, PMID:9097970, PMID:9668239
 ISORGD:7341068554872ClinVarClinVar Annotator: match by term: Congenital myasthenic syndrome

PMID:15951177, PMID:19064877, PMID:21175599, PMID:28024842, PMID:28492532, PMID:29054425, PMID:8957026
 ISORGD:7341068554872ClinVarClinVar Annotator: match by term: Congenital myasthenic syndrome

PMID:20562457, PMID:24033266, PMID:28492532, PMID:29054425, PMID:29383513, PMID:9708546
 ISORGD:7341068554872ClinVarClinVar Annotator: match by term: Congenital myasthenic syndrome

PMID:21150643, PMID:27717316, PMID:9158150
 ISORGD:7341068554872ClinVarClinVar Annotator: match by term: Congenital myasthenic syndrome

PMID:22382357, PMID:28492532
 ISORGD:7341068554872ClinVarClinVar Annotator: match by term: Congenital myasthenic syndrome

PMID:22678886, PMID:28492532
 ISORGD:7341068554872ClinVarClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive

PMID:18414213, PMID:24033266, PMID:25741868, PMID:28492532
 ISORGD:7341068554872ClinVarClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive

PMID:18414213, PMID:25741868
 ISORGD:7341068554872ClinVarClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive

PMID:22865819, PMID:25741868, PMID:26467025, PMID:28492532
 ISORGD:7341068554872ClinVarClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive

PMID:25741868
 ISORGD:7341068554872ClinVarClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive

PMID:25741868, PMID:26467025, PMID:28492532
 ISORGD:7341068554872ClinVarClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive

PMID:25741868, PMID:28492532
 ISORGD:7341068554872ClinVarClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive

PMID:28492532
 ISORGD:7341068554872ClinVarClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive

PMID:28492532, PMID:8755487
 ISORGD:7341068554872ClinVarClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital

PMID:12141316, PMID:3651795, PMID:7863154
 ISORGD:7341068554872ClinVarClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital

PMID:21822932, PMID:27779167, PMID:28492532, PMID:7538206, PMID:8872460
 ISORGD:7341068554872ClinVarClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital

PMID:7531341
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.