Annotation Detail

Information
Associated Genes
APEX1
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 )
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 )
Associated Disease
Malignant neoplasm of lung
Source Database
DisGeNET
Description
Our results provide evidence that the non-synonymous polymorphism of APEX1 Asp(148)Glu may not be directly associated with lung cancer risk, nor enhance the effects of smoking habit on lung cancer development.
Pubmed
23749940
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0489256835428042
Year of publication
2013
Drugs