Annotation Detail

Information
Associated Genes
SCPEP1
Associated Variants
CNOT1 p.Gln973= (p.Q973=) ( ENST00000441024.6, ENST00000317147.10, ENST00000569240.5 )
CNOT1 p.Gln973= (p.Q973=) ( ENST00000317147.10, ENST00000441024.6, ENST00000569240.5 )
Associated Disease
Osteosarcoma of bone
Source Database
DisGeNET
Description
This study suggests that SNPs in RISC complex genes may be involved in osteosarcoma susceptibility, especially rs11866002 in CNOT1.
Pubmed
25663449
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2014
Drugs