Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
APEX1 p.Asp148Glu (p.D148E)
(
ENST00000557054.1,
ENST00000398030.8,
ENST00000216714.8,
ENST00000555414.5 )
APEX1 p.Asp148Glu (p.D148E) ( ENST00000555414.5, ENST00000216714.8, ENST00000557054.1, ENST00000398030.8 )
ERCC2 p.Asp312Asn (p.D312N) ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 )
APEX1 p.Asp148Glu (p.D148E) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 )
APEX1 p.Asp148Glu (p.D148E) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 )
ERCC2 p.Asp312Asn (p.D312N) ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 ) - Associated Disease
- Cancer of Head and Neck
- Source Database
- DisGeNET
- Description
- We thus conclude that the XPD Asp312Asn and APE1 Asp148Glu polymorphisms increase the risk for HNC in association with smoking and/or tobacco chewing in the population under study.
- Pubmed
- 25916209
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0121825466352112
- Year of publication
- 2015
Drugs