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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 neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome "DO" "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590 "DO" "DO"
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Chrne ISOCHRNE (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenitalPMID:10496269 PMID:10514102 PMID:10534268 PMID:11030414 PMID:11408331 PMID:12141316 PMID:12356851 PMID:12417530 PMID:12536367 PMID:14532324 PMID:15322984 PMID:15367858 PMID:15951177 PMID:16087917 PMID:16199547 PMID:17363247 PMID:17576681 PMID:17878953 PMID:18414213 PMID:19064877 PMID:19153382 PMID:19544078 PMID:20157724 PMID:20301347 PMID:20562457 PMID:21150643 PMID:21175599 PMID:21940170 PMID:22382357 PMID:22678886 PMID:22865819 PMID:24033266 PMID:24295813 PMID:25326635 PMID:25741868 PMID:26284228 PMID:26467025 PMID:27634344 PMID:27717316 PMID:28024842 PMID:28464723 PMID:28492532 PMID:29054425 PMID:29189923 PMID:29383513 PMID:30792901 PMID:31773638 PMID:31980526 PMID:32727330 PMID:36099689 PMID:8755487 PMID:8957026 PMID:9097970 PMID:9158150 PMID:9443457 PMID:9536098 PMID:9539130 PMID:9668239 PMID:9708546
Chrne ISOCHRNE (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenitalPMID:10496269 PMID:10514102 PMID:10534268 PMID:11030414 PMID:11408331 PMID:12141316 PMID:12356851 PMID:12417530 PMID:12536367 PMID:14532324 PMID:15322984 PMID:15367858 PMID:15951177 PMID:16087917 PMID:16199547 PMID:17363247 PMID:17576681 PMID:17878953 PMID:18414213 PMID:19064877 PMID:19153382 PMID:19544078 PMID:20157724 PMID:20301347 PMID:20562457 PMID:21150643 PMID:21175599 PMID:21940170 PMID:22382357 PMID:22678886 PMID:22865819 PMID:24033266 PMID:24295813 PMID:25326635 PMID:25741868 PMID:26284228 PMID:26467025 PMID:27634344 PMID:27717316 PMID:28024842 PMID:28464723 PMID:28492532 PMID:29054425 PMID:29189923 PMID:29383513 PMID:31980526 PMID:8755487 PMID:8957026 PMID:9097970 PMID:9158150 PMID:9443457 PMID:9536098 PMID:9539130 PMID:9668239 PMID:9708546
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