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GENE - TERM ANNOTATION REPORT

RGD ID: 12244150
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: CENPE
Name: centromere protein E
Acc ID: DOID:0070283
Term: primary autosomal recessive microcephaly 13
Definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24. (DO)
Definition Source(s): PMID:24748105 "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)
CENPE ISOCENPE (Homo sapiens)7240710OMIM  
CENPE ISOCENPE (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CENPE-related condition | ClinVar Annotator: match by term: Microcephaly 13, primary, autosomal recessivePMID:24748105 PMID:25741868 PMID:28492532
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