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GENE - TERM ANNOTATION REPORT

RGD ID: 1314311
Species: Mus musculus
RGD Object: Gene
Symbol: Cux2
Name: cut-like homeobox 2
Acc ID: DOID:0112203
Term: developmental and epileptic encephalopathy 67
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/29630738/ "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)
Cux2 ISOCUX2 (Homo sapiens)7240710OMIM  
Cux2 ISOCUX2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 67PMID:20404132 PMID:23020937 PMID:25741868 PMID:28492532 PMID:28628100 PMID:29630738 PMID:29795476
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