Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
BIVM-ERCC5 p.Asp1558His (p.D1558H), ERCC5 p.Asp1104His (p.D1104H)
(
ENST00000652613.1,
ENST00000652225.2,
ENST00000639435.1,
ENST00000639132.1 )
ERCC2 p.Asp312Asn (p.D312N) ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 )
XPC p.Ala499Val (p.A499V) ( ENST00000285021.12 )
BIVM-ERCC5 p.Asp1558His (p.D1558H), ERCC5 p.Asp1104His (p.D1104H) ( ENST00000652225.2, ENST00000652613.1, ENST00000639132.1, ENST00000639435.1 )
ERCC2 p.Asp312Asn (p.D312N) ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 )
XPC p.Ala499Val (p.A499V) ( ENST00000285021.12 ) - Associated Disease
- Squamous cell carcinoma of oropharynx
- Source Database
- DisGeNET
- Description
- In a dominant model, we found that polymorphisms of XPC-rs2228000, XPD-rs1799793 and XPG-rs17655 were significantly associated with disease-free survival (log-rank, p = 0.014; p = 0.00008; p = 0.0007, respectively), and these polymorphisms were significantly associated with recurrence risk of SCCOP (hazard ratio (HR) = 1.6, 95% confidence interval (CI) 1.1-2.3 for XPC-rs2228000; HR = 0.4, 95% 0.3-0.6 for XPD-rs1799793 and HR = 0.5, 95% CI 0.4-0.8 for XPG-rs17655) after multivariable adjustment.
- Pubmed
- 23335232
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs