Annotation Detail

Information
Associated Genes
TERT
Associated Variants
TERT MUTATION
TERT MUTATION
Associated Disease
Glioma
Source Database
DisGeNET
Description
Hot spot mutations in the promoter region of telomerase reverse transcriptase (TERT promoter mutations) occur frequently in tumors of neuroectodermal origin such as melanoma and glioma.
Pubmed
25035100
Section of the abstract supporting the evidence
ALL_TEXT_1/3
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
1
Original source reporting the Gene Disease association
BeFree,CTD_human,GAD,GWASCAT,LHGDN
DisGENET score for the Gene Disease association
0.269237234271142
Drugs