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GENE - TERM ANNOTATION REPORT

RGD ID: 1317927
Species: Mus musculus
RGD Object: Gene
Symbol: Apc2
Name: APC regulator of WNT signaling pathway 2
Acc ID: DOID:0081218
Term: autosomal recessive intellectual developmental disorder 74
Definition: An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/33161245/ "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)
Apc2 ISOAPC2 (Homo sapiens)7240710OMIM  
Apc2 ISOAPC2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 74PMID:25741868 PMID:25753423 PMID:28492532 PMID:31585108 PMID:33161245
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