Annotation Detail

Information
Associated Genes
TERT
Associated Variants
TERT MUTATION
TERT MUTATION
Associated Disease
Multiple malignancy
Source Database
DisGeNET
Description
Point mutations in the telomerase reverse transcriptase (TERT) gene promoter occur at high frequency in multiple cancers, including urothelial cancer (UC), but their effect on telomerase function has been unclear.
Pubmed
25722414
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
2
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00108576748832121
Drugs