Annotation Detail

Information
Associated Genes
ERCC4
Associated Variants
PGR p.Val660Leu (p.V660L) ( ENST00000534013.5, ENST00000263463.9, ENST00000619228.2, ENST00000325455.10 )
ERCC4 c.208-807G>C ( ENST00000311895.8, ENST00000575156.5, ENST00000682617.1 )
BID p.Ser56Gly (p.S56G) ( ENST00000317361.11, ENST00000342111.9, ENST00000399765.5, ENST00000399767.6, ENST00000551952.5, ENST00000614949.4, ENST00000622694.5 )
CASP10 p.Val410Ile (p.V410I) ( ENST00000272879.9, ENST00000286186.11, ENST00000313728.12, ENST00000346817.10, ENST00000448480.1, ENST00000696199.1 )
NC_000006.12:g.31575324G>A
PGR p.Val660Leu (p.V660L) ( ENST00000263463.9, ENST00000325455.10, ENST00000534013.5, ENST00000619228.2 )
ERCC4 c.208-807G>C ( ENST00000311895.8, ENST00000575156.5, ENST00000682617.1 )
BID p.Ser56Gly (p.S56G) ( ENST00000317361.11, ENST00000342111.9, ENST00000399765.5, ENST00000399767.6, ENST00000551952.5, ENST00000614949.4, ENST00000622694.5 )
CASP10 p.Val410Ile (p.V410I) ( ENST00000272879.9, ENST00000286186.11, ENST00000313728.12, ENST00000346817.10, ENST00000448480.1, ENST00000696199.1 )
NC_000006.12:g.31575324G>A
Associated Disease
Invasive breast carcinoma
Source Database
DisGeNET
Description
In conclusion, our data provide persuasive evidence against an overall association between invasive breast cancer risk and ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 genotypes among women of European descent.
Pubmed
19423537
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2009
Drugs