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 c.1119-102G>T ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 )
LIG1 p.Asp802= (p.D802=) ( ENST00000263274.12, ENST00000427526.6, ENST00000596549.6, ENST00000699866.1, ENST00000699868.1, ENST00000699871.1, ENST00000699874.1, ENST00000699875.1, ENST00000699877.1 )
BIVM-ERCC5 p.Asp1558His (p.D1558H), ERCC5 p.Asp1104His (p.D1104H) ( ENST00000652225.2, ENST00000652613.1, ENST00000639132.1, ENST00000639435.1 )
ERCC2 c.1119-102G>T ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 )
LIG1 p.Asp802= (p.D802=) ( ENST00000263274.12, ENST00000427526.6, ENST00000596549.6, ENST00000699866.1, ENST00000699868.1, ENST00000699871.1, ENST00000699874.1, ENST00000699875.1, ENST00000699877.1 ) - Associated Disease
- Malignant neoplasm of lung
- Source Database
- DisGeNET
- Description
- From MDR analysis, in Latinos, smoking and 3 SNPs (ERCC2 rs171140, ERCC5 rs17655 and LIG1 rs20581) together had a prediction accuracy of 67.4% (p = 0.001) for lung cancer.
- Pubmed
- 18709642
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.213843535476095
- Year of publication
- 2008
Drugs