Annotation Detail
Information
- Associated Genes
- NTRK1
- 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
- The rs2066827*GT+GG CDKN1B genotype was more frequent in s-MTC patients (62.22%) than in controls (40.21%), increasing the susceptibility to s-MTC (OR=2.47; 95% CI=1.048-5.833; P=0.038).
- Pubmed
- 25565272
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00461451182536516
- Year of publication
- 2015
Drugs