Annotation Detail

Information
Associated Genes
CDKN1B
Associated Variants
CDKN1B p.Val109Asp (p.V109D) ( ENST00000228872.9, ENST00000614874.2, ENST00000396340.1 )
CDKN1B p.Val109Ala (p.V109A) ( ENST00000396340.1, ENST00000614874.2, ENST00000228872.9 )
CDKN1B p.Val109Gly (p.V109G) ( ENST00000228872.9, ENST00000396340.1, ENST00000614874.2 )
CDKN1B p.Val109Asp (p.V109D) ( ENST00000228872.9, ENST00000396340.1, ENST00000614874.2 )
CDKN1B p.Val109Ala (p.V109A) ( ENST00000228872.9, ENST00000396340.1, ENST00000614874.2 )
CDKN1B p.Val109Gly (p.V109G) ( ENST00000228872.9, ENST00000396340.1, ENST00000614874.2 )
Associated Disease
Medullary carcinoma of thyroid
Source Database
DisGeNET
Description
CDKN1B V109G polymorphism a new prognostic factor in sporadic medullary thyroid carcinoma.
Pubmed
21177330
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2011
Drugs