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
These data suggest that the changes in the regulatory 'hot-spot' on the CDK4 gene, causing various endocrine tumours in CDK4(R24C/R24C )mice, are not a major factor in sporadic pituitary, insulin beta-cell or Leydig cell tumorigenesis.
Pubmed
12904177
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00868613990656971
Year of publication
2003
Drugs