Annotation Detail
Information
- Associated Genes
- ERCC1
- Associated Variants
-
POLR1G p.Gln506Lys (p.Q506K)
(
ENST00000300853.8,
ENST00000423698.6,
ENST00000309424.8,
ENST00000589804.1 )
ERCC1 p.Asn118= (p.N118=) ( ENST00000013807.9, ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 )
POLR1G p.Gln506Lys (p.Q506K) ( ENST00000300853.8, ENST00000423698.6, ENST00000309424.8, ENST00000589804.1 )
ERCC1 p.Asn118= (p.N118=) ( ENST00000013807.9, ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 ) - Associated Disease
- Non-small cell lung carcinoma
- Source Database
- DisGeNET
- Description
- In conclusion, ERCC1 rs11615 and rs3212986 polymorphism were associated with a poor response to chemotherapy and shorter survival time of advanced NSCLC.
- Pubmed
- 24859833
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.15629726598864
- Year of publication
- 2014
Drugs