Annotation Detail

Information
Associated Genes
TERT
Associated Variants
CLPTM1L c.1316-153G>A ( ENST00000320895.10, ENST00000507807.3, ENST00000630539.1 )
CLPTM1L c.1316-153G>A ( ENST00000320895.10, ENST00000507807.3, ENST00000630539.1 )
Associated Disease
Squamous cell carcinoma of esophagus
Source Database
DisGeNET
Description
TERT-CLPTM1L rs401681 CT and CT/TT genotypes were associated with decreased risk of ESCC, particularly among men, young patients and those reported to be drinkers.
Pubmed
25007268
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00108576748832121
Year of publication
2014
Drugs