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
melanoma
Source Database
DisGeNET
Description
The observation that a wide variety of tumors develop in mice harboring the Cdk4(R24C) mutation offers a genetic proof that Cdk4 activation may constitute a central event in the genesis of many types of cancers in addition to melanoma.
Pubmed
11756559
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0614167218734491
Year of publication
2002
Drugs