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GENE - TERM ANNOTATION REPORT

RGD ID: 1560603
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Map3k15
Name: mitogen-activated protein kinase kinase kinase 15
Acc ID: DOID:0080467
Term: developmental and epileptic encephalopathy 2
Definition: A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22. (DO)
Definition Source(s): PMID:15492925 "DO" "DO", PMID:22872100 "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)
Map3k15 ISOMAP3K15 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 PMID:18076117 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 PMID:31916079 PMID:9837815
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