Annotation Detail

Information
Associated Genes
CLPTM1L
Associated Variants
TERT c.1574-3777G>T ( ENST00000310581.10, ENST00000334602.10 )
TERT c.1574-3777G>T ( ENST00000310581.10, ENST00000334602.10 )
Associated Disease
colorectal cancer
Source Database
DisGeNET
Description
The rs2736100 association demonstrates an influence of variation at 5p15.33 on CRC risk and further evidence that the 5p15.33 (TERT-CLPTM1L) locus has pleiotropic effects (reflecting generic or lineage-specific effects) on cancer risk.
Pubmed
22878375
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2012
Drugs