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GENE - TERM ANNOTATION REPORT

RGD ID: 1549990
Species: Mus musculus
RGD Object: Gene
Symbol: Chat
Name: choline acetyltransferase
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)
Chat ISOCHAT (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital myasthenic syndromePMID:11172068 PMID:12548525 PMID:19520274 PMID:21786365 PMID:22678886 PMID:23292760 PMID:24033266 PMID:25741868 PMID:25741895 PMID:26080897 PMID:28492532 PMID:28497657 PMID:28991257 PMID:29189923 PMID:32368696 PMID:33820833
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