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GENE - TERM ANNOTATION REPORT

RGD ID: 1320468
Species: Mus musculus
RGD Object: Gene
Symbol: Cep57
Name: centrosomal protein 57
Acc ID: DOID:0080141
Term: mosaic variegated aneuploidy syndrome 1
Definition: A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome "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)
Cep57 ISOCEP57 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1PMID:12116237 PMID:21552266 PMID:24259107 PMID:25741868 PMID:28492532 PMID:30010053
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