Annotation Detail
Information
- Associated Genes
- ERCC1
- Associated Variants
-
ERCC2 p.Lys751Ter (p.K751*)
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
POLR1G p.Gln506Lys (p.Q506K) ( ENST00000300853.8, ENST00000423698.6, ENST00000309424.8, ENST00000589804.1 )
ERCC2 p.Lys751Ter (p.K751*) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
POLR1G p.Gln506Lys (p.Q506K) ( ENST00000300853.8, ENST00000423698.6, ENST00000309424.8, ENST00000589804.1 ) - Associated Disease
- Glioma
- Source Database
- DisGeNET
- Description
- Systematic review on the association between ERCC1 rs3212986 and ERCC2 rs13181 polymorphisms and glioma risk.
- Pubmed
- 25867436
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0120729260250364
- Year of publication
- 2016
Drugs