Annotation Detail

Information
Associated Genes
CDK4
Associated Variants
CDK4 p.Arg24Cys (p.R24C) ( ENST00000549606.5, ENST00000312990.10, ENST00000257904.11 )
CDK4 p.Arg24Cys (p.R24C) ( ENST00000257904.11, ENST00000312990.10, ENST00000549606.5 )
Associated Disease
Carcinogenesis
Source Database
DisGeNET
Description
Germ line transmission of the Cdk4(R24C) mutation facilitates tumorigenesis and escape from cellular senescence.
Pubmed
11756559
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00868613990656971
Year of publication
2002
Drugs