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GENE - TERM ANNOTATION REPORT

RGD ID: 11700463
Species: Pan paniscus
RGD Object: Gene
Symbol: MED25
Name: mediator complex subunit 25
Acc ID: DOID:0080459
Term: developmental and epileptic encephalopathy 12
Definition: A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/22690784/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20833646 "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)
MED25 ISOMED25 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12PMID:27066586 PMID:27232581 PMID:28492532
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