Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

RGD ID: 737109
Species: Mus musculus
RGD Object: Gene
Symbol: Chrne
Name: cholinergic receptor, nicotinic, epsilon polypeptide
Acc ID: DOID:0110678
Term: congenital myasthenic syndrome 4A
Definition: A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12141316 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7531341 "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 4A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channelPMID:10211467 PMID:10382905 PMID:10496269 PMID:10514102 PMID:10534268 PMID:10962020 PMID:11030414 PMID:11408331 PMID:11960891 PMID:12034803 PMID:12141316 PMID:12356851 PMID:12417530 PMID:12453093 PMID:12536367 PMID:14532324 PMID:14592868 PMID:15145336 PMID:15322984 PMID:15367858 PMID:15951177 PMID:16061559 PMID:16087917 PMID:16198106 PMID:16199547 PMID:16550914 PMID:17576681 PMID:17878953 PMID:18414213 PMID:19064877 PMID:19153382 PMID:19289485 PMID:19544078 PMID:20157724 PMID:20301347 PMID:20562457 PMID:21150643 PMID:21175599 PMID:21520333 PMID:21822932 PMID:21940170 PMID:22178625 PMID:22382357 PMID:22678886 PMID:22865819 PMID:24033266 PMID:24295813 PMID:25326635 PMID:25640679 PMID:25741868 PMID:26284228 PMID:26467025 PMID:27634344 PMID:27717316 PMID:27779167 PMID:28024842 PMID:28464723 PMID:28492532 PMID:28690392 PMID:29054425 PMID:29189923 PMID:29367459 PMID:29383513 PMID:29395675 PMID:29702980 PMID:30124556 PMID:30542963 PMID:30792901 PMID:30898524 PMID:30931400 PMID:31589614 PMID:31773638 PMID:31980526 PMID:32721234 PMID:32727330 PMID:33756069 PMID:35628876 PMID:36099689 PMID:3651795 PMID:7531341 PMID:7538206 PMID:7863154 PMID:8232384 PMID:8663316 PMID:8755487 PMID:8872460 PMID:8957026 PMID:9097970 PMID:9158150 PMID:9443457 PMID:9536098 PMID:9539130 PMID:9606190 PMID:9668239 PMID:9708546
Go Back to source page   Continue to Ontology report