Annotation Detail

Information
Associated Genes
CDKN2A
Associated Variants
CDKN2A MUTATION
CDKN2A MUTATION
Associated Disease
Metastatic melanoma
Source Database
DisGeNET
Description
BRAF mutation and CDKN2A loss occurred early and TERT promoter mutation later in a case of lethal metastatic melanoma.
Pubmed
25407517
Section of the abstract supporting the evidence
CONCLUSION
Number of the section of the abstract supporting the evidence
4
Number of the sentence supporting the evidence
8
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00244297684872273
Drugs