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GENE - TERM ANNOTATION REPORT

RGD ID: 11975114
Species: Pan paniscus
RGD Object: Gene
Symbol: EPC2
Name: enhancer of polycomb homolog 2
Acc ID: DOID:0070031
Term: autosomal dominant intellectual developmental disorder 1
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21981781 "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)
EPC2 ISOEPC2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorderPMID:19904302 PMID:21981781 PMID:23632792
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