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
- Testicular Neoplasms
- Source Database
- DisGeNET
- Description
- However, 'knock-in' mice homozygous for the CDK4(R24C) mutation were noted to develop multiple neoplasia, most commonly including endocrine tumours: pituitary adenomas, insulinomas and Leydig cell testicular tumours.
- Pubmed
- 12904177
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2003
Drugs