Annotation Detail
Information
- Associated Genes
- CDKN2A
- Associated Variants
-
CDKN2A p.Val126Asp (p.V126D)
(
ENST00000304494.10,
ENST00000479692.2,
ENST00000494262.5,
ENST00000497750.1,
ENST00000498124.1,
ENST00000498628.6,
ENST00000530628.2,
ENST00000578845.2,
ENST00000579122.1,
ENST00000579755.2 )
CDKN2A p.Val126Asp (p.V126D) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 ) - Associated Disease
- melanoma
- Source Database
- DisGeNET
- Description
- We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma.
- Pubmed
- 23371019
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2013
Drugs