Annotation Detail

Information
Associated Genes
ERCC2
Associated Variants
ERCC2 MUTATION
ERCC2 MUTATION
Associated Disease
Malignant neoplasm of lung
Source Database
DisGeNET
Description
We found a significantly increased risk of lung cancer development in XPD genotype Lys/Gln (OR=1.94; 95% CI=1.10-3.43; p=0.015) and in the gene combinations: XPD Lys/Gln+XPC Lys/Gln (OR=6.5; 95% CI=1.53-27.49; p=0.009) and XPD Lys/Gln+XPC Gln/Gln(OR=5.2; 95% CI=1.07-25.32; p=0.04).
Pubmed
25300687
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
6
Original source reporting the Gene Disease association
BeFree,GAD,GWASCAT
DisGENET score for the Gene Disease association
0.213843535476095
Drugs