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GENE - TERM ANNOTATION REPORT

RGD ID: 620004
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Angptl2
Name: angiopoietin-like 2
Acc ID: DOID:0080437
Term: developmental and epileptic encephalopathy 31A
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/25533962/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25262651 "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)
Angptl2 ISOANGPTL2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391
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