Annotation Detail

Information
Associated Genes
TERT
Associated Variants
TERT MUTATION
TERT MUTATION
Associated Disease
Anaplasia
Source Database
DisGeNET
Description
TP53 mutations, which result in its overexpression, in combination with TERT promoter mutations seem to play an important role in the dedifferentiation process.
Pubmed
25582503
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
12
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Drugs