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GENE - TERM ANNOTATION REPORT

RGD ID: 737109
Species: Mus musculus
RGD Object: Gene
Symbol: Chrne
Name: cholinergic receptor, nicotinic, epsilon polypeptide
Acc ID: DOID:0110679
Term: congenital myasthenic syndrome 4C
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8957026 "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)7240710OMIM  
Chrne ISOCHRNE (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Chrne ISOCHRNE (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiencyPMID:10211467 PMID:10496269 PMID:10514102 PMID:10534268 PMID:11030414 PMID:12417530 PMID:14532324 PMID:15322984 PMID:15367858 PMID:15951177 PMID:16087917 PMID:16199547 PMID:16550914 PMID:17576681 PMID:17878953 PMID:18414213 PMID:19064877 PMID:19544078 PMID:20301347 PMID:20562457 PMID:21175599 PMID:21940170 PMID:22678886 PMID:24033266 PMID:24295813 PMID:25326635 PMID:25741868 PMID:26467025 PMID:27634344 PMID:28024842 PMID:28492532 PMID:29054425 PMID:29189923 PMID:29383513 PMID:30124556 PMID:31980526 PMID:8232384 PMID:8755487 PMID:8957026 PMID:9097970 PMID:9158150 PMID:9443457 PMID:9536098 PMID:9668239 PMID:9708546
Chrne IAGP 13592920MouseDOOMIM:608931 
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