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GENE - TERM ANNOTATION REPORT

RGD ID: 11980654
Species: Pan paniscus
RGD Object: Gene
Symbol: CHAT
Name: choline O-acetyltransferase
Acc ID: DOID:0110671
Term: congenital myasthenic syndrome 6
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11172068 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/12756141 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "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)
CHATsusceptibilityISOCHAT (Homo sapiens)9068941RGDDNA:frameshift mutation, missense mutationsPMID:11172068 REF_RGD_ID:1600831
CHAT ISOCHAT (Homo sapiens)7240710OMIM  
CHAT ISOCHAT (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CHAT-related condition | ClinVar Annotator: match by term: Familial infantile myastheniaPMID:11172068 PMID:12548525 PMID:12609506 PMID:12756141 PMID:15381704 PMID:15701560 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19520274 PMID:19900826 PMID:21786365 PMID:21948486 PMID:22678886 PMID:23292760 PMID:24033266 PMID:25741868 PMID:26080897 PMID:26467025 PMID:26789281 PMID:28492532 PMID:28497657 PMID:28991257 PMID:29054425 PMID:29189923 PMID:32368696 PMID:33820833 PMID:34431804 PMID:34740919 PMID:34930662 PMID:36308527 PMID:38304750 PMID:9073174 PMID:9536098
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