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GENE - TERM ANNOTATION REPORT

RGD ID: 1558435
Species: Mus musculus
RGD Object: Gene
Symbol: Mapk8ip3
Name: mitogen-activated protein kinase 8 interacting protein 3
Acc ID: DOID:9005897
Term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
Definition: A disease characterized by global developmental delay apparent from infancy or early childhood, resulting in mildly delayed walking, variably impaired intellectual development, and poor or absent speech.
Definition Source(s): OMIM:618443
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)
Mapk8ip3 ISOMAPK8IP3 (Homo sapiens)7240710OMIM  
Mapk8ip3 ISOMAPK8IP3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MAPK8IP3-related disorder | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIESPMID:25741868 PMID:28492532 PMID:29758562 PMID:30612693 PMID:30945334
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