Annotation Detail

Information
Associated Genes
TERT
Associated Variants
TERT c.1574-3777G>T ( ENST00000310581.10, ENST00000334602.10 )
TERT c.-1382T>C
TERT c.1574-3777G>T ( ENST00000310581.10, ENST00000334602.10 )
TERT c.-1382T>C
Associated Disease
Leukemia, Lymphocytic, Acute, L1
Source Database
DisGeNET
Description
Our findings suggested that TERT promoter rs2735940 polymorphism may affect the TERT activity, and rs2736100 may be associated with telomere function, and thus, it is a potential biomarker for genetic susceptibility to ALL in Chinese children.
Pubmed
23066086
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2013
Drugs