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GENE - TERM ANNOTATION REPORT

RGD ID: 18910000
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Ncf2
Name: neutrophil cytosolic factor 2
Acc ID: DOID:0080452
Term: developmental and epileptic encephalopathy 28
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/25411445/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/24456803 "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)
Ncf2 ISONCF2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28PMID:16937026 PMID:23821607 PMID:25741868 PMID:28492532
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