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GENE - TERM ANNOTATION REPORT

RGD ID: 1614291
Species: Mus musculus
RGD Object: Gene
Symbol: 4930563E22Rik
Name: RIKEN cDNA 4930563E22 gene
Acc ID: DOID:0080453
Term: developmental and epileptic encephalopathy 25
Definition: A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/27600704/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/24995870 "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)
4930563E22Rik ISOC17orf100 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532
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