Annotation Detail

Information
Associated Genes
ERCC2
Associated Variants
ERCC2 p.Asp312Asn (p.D312N) ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 )
ERCC2 p.Asp312Asn (p.D312N) ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 )
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
Significant association of XPD Asp312Asn polymorphism with breast cancer in Taiwanese patients.
Pubmed
21793320
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0836168376055938
Year of publication
2010
Drugs