Annotation Detail

Information
Associated Genes
TERT
Associated Variants
TERT MUTATION
TERT MUTATION
Associated Disease
Malignant neoplasm of urinary bladder
Source Database
DisGeNET
Description
This study is the first to identify frequent BAP1 and BRCA pathway alterations in bladder cancer, show TERT promoter alterations are independent of other bladder cancer gene alterations, and show KDM6A loss is a driver of the bladder cancer phenotype.
Pubmed
25225064
Section of the abstract supporting the evidence
CONCLUSIONS
Number of the section of the abstract supporting the evidence
4
Number of the sentence supporting the evidence
10
Original source reporting the Gene Disease association
BeFree,GAD
DisGENET score for the Gene Disease association
0.0115201107592116
Drugs