Annotation Detail
Information
- Associated Genes
- ERCC1
- Associated Variants
-
ERCC1 p.Asn118= (p.N118=)
(
ENST00000013807.9,
ENST00000300853.8,
ENST00000340192.11,
ENST00000423698.6,
ENST00000589165.5,
ENST00000591636.5 )
ERCC1 p.Asn118= (p.N118=) ( ENST00000013807.9, ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 ) - Associated Disease
- Osteosarcoma of bone
- Source Database
- DisGeNET
- Description
- In conclusion, our results suggest that ERCC1 rs11615 polymorphism in the DNA repair pathways play an important role in the response to chemotherapy and overall survival of osteosarcoma.
- Pubmed
- 25755792
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2014
Drugs