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GENE - TERM ANNOTATION REPORT

RGD ID: 1312684
Species: Mus musculus
RGD Object: Gene
Symbol: Ezh2
Name: enhancer of zeste 2 polycomb repressive complex 2 subunit
Acc ID: DOID:0090130
Term: cortical dysplasia-focal epilepsy syndrome
Definition: A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/27439707 "DO" "DO", https://www.omim.org/entry/610042 "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)
Ezh2 ISOEZH2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndromePMID:16571880 PMID:22872700 PMID:28492532
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