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GENE - TERM ANNOTATION REPORT

RGD ID: 1309641
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Kmt2e
Name: lysine methyltransferase 2E
Acc ID: DOID:9001969
Term: O'Donnell-Luria-Rodan Syndrome
Definition: A neurodevelopmental disorder characterized by global developmental delay, speech delay, variably delayed intellectual development, and subtle dysmorphic features.
Definition Source(s): OMIM:618512
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)
Kmt2e ISOKMT2E (Homo sapiens)7240710OMIM  
Kmt2e ISOKMT2E (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Abnormality of the cerebellar vermis | ClinVar Annotator: match by term: KMT2E-related condition | ClinVar Annotator: match by term: O'Donnell-Luria-Rodan syndromePMID:25741868 PMID:28492532 PMID:31079897 PMID:35229910
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