Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 p.Lys751Ter (p.K751*)
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
WRN p.Leu1074Phe (p.L1074F) ( ENST00000298139.7 )
ERCC2 p.Lys751Ter (p.K751*) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
WRN p.Leu1074Phe (p.L1074F) ( ENST00000298139.7 ) - Associated Disease
- T-Cell Lymphoma
- Source Database
- DisGeNET
- Description
- A significant interaction with BMI was only observed for WRN (rs1801195; P = 0.004) for T-cell lymphoma and ERCC2 (rs13181; P = 0.002) for diffuse large B-cell lymphoma.
- Pubmed
- 23619945
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs