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GENE - TERM ANNOTATION REPORT

RGD ID: 1311592
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Rapsn
Name: receptor-associated protein of the synapse
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)
Rapsn ISORAPSN (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndromePMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 PMID:12807980 PMID:12929188 PMID:14504330 PMID:14659409 PMID:14729848 PMID:15036330 PMID:15145336 PMID:15282317 PMID:15286164 PMID:15328566 PMID:15482960 PMID:16199547 PMID:16945936 PMID:17190963 PMID:17576681 PMID:17594401 PMID:17686188 PMID:17878953 PMID:18179903 PMID:19620612 PMID:20157724 PMID:20301347 PMID:20562457 PMID:20930056 PMID:21228398 PMID:21305573 PMID:22326364 PMID:2245297 PMID:22678886 PMID:24033266 PMID:24319099 PMID:25194721 PMID:25264167 PMID:25741868 PMID:26467025 PMID:26782015 PMID:26910802 PMID:26927095 PMID:28492532 PMID:29053879 PMID:29054425 PMID:29189923 PMID:30124556 PMID:30266223 PMID:31680123 PMID:31965297 PMID:33502061 PMID:9536098
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