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GENE - TERM ANNOTATION REPORT

RGD ID: 11901286
Species: Pan paniscus
RGD Object: Gene
Symbol: EEF2KMT
Name: eukaryotic elongation factor 2 lysine methyltransferase
Acc ID: DOID:5212
Term: congenital disorder of glycosylation
Definition: A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation "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 ISOEEF2KMT (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital disorder of glycosylationPMID:20679665 PMID:24157261 PMID:25741868 PMID:26931382 PMID:28492532 PMID:34567092
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