Annotation Detail

Information
Associated Genes
BID
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
breast carcinoma
Source Database
DisGeNET
Description
Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 may influence breast cancer risk, but the evidence is inconclusive due to their small sample size.
Pubmed
19423537
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00108576748832121
Year of publication
2009
Drugs