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GENE - TERM ANNOTATION REPORT

RGD ID: 11943466
Species: Pan paniscus
RGD Object: Gene
Symbol: CLEC4A
Name: C-type lectin domain family 4 member A
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): PMID:24399846 "DO" "DO", PMID:30525121 "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)
CLEC4A ISOCLEC4A (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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