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GENE - TERM ANNOTATION REPORT

RGD ID: 1303222
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Aicda
Name: activation-induced cytidine deaminase
Acc ID: DOID:0080443
Term: developmental and epileptic encephalopathy 21
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/30525121/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/24399846 "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)
Aicda ISOAICDA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896
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