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GENE - TERM ANNOTATION REPORT

RGD ID: 1603258
Species: Homo sapiens
RGD Object: Gene
Symbol: EEF2KMT
Name: eukaryotic elongation factor 2 lysine methyltransferase
Acc ID: DOID:630
Term: genetic disease
Definition: A disease that has_material_basis_in genetic variations in the human genome. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/ "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)
EEF2KMT IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseases 
EEF2KMT IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:20679665 PMID:24157261 PMID:25741868 PMID:26931382 PMID:28492532 PMID:34567092
EEF2KMT IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:28492532
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