Annotation Detail
Information
- Associated Genes
- TERF2
- Associated Variants
-
TERF2 c.1341-42T>C
(
ENST00000254942.8 )
TERT c.2654+269T>C ( ENST00000310581.10, ENST00000334602.10 )
POT1 c.1595-111A>G ( ENST00000357628.8, ENST00000393329.5, ENST00000653241.1, ENST00000654766.1, ENST00000655761.1, ENST00000664366.1, ENST00000668382.1 )
TERF2 c.1341-42T>C ( ENST00000254942.8 )
TERT c.2654+269T>C ( ENST00000310581.10, ENST00000334602.10 )
POT1 c.1595-111A>G ( ENST00000357628.8, ENST00000393329.5, ENST00000653241.1, ENST00000654766.1, ENST00000655761.1, ENST00000664366.1, ENST00000668382.1 ) - Associated Disease
- Malignant neoplasm of lung
- Source Database
- DisGeNET
- Description
- POT1 rs10244817, TERT rs2075786, and TERF2 rs251796 were significantly associated with lung cancer (p(trend)< or =0.05).
- Pubmed
- 19285750
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00500550582928437
- Year of publication
- 2009
Drugs