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GENE - TERM ANNOTATION REPORT

RGD ID: 619791
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Bub1b
Name: BUB1 mitotic checkpoint serine/threonine kinase B
Acc ID: DOID:9008692
Term: Aneuploidy
Definition: The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
Definition Source(s): MESH:D000782
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
susceptibilityISORGD:13163161600540RGDDNA:missense mutation:

mosaic variegated aneuploidy syndrome, OMIM:257300

 
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.