Annotation Detail

Information
Associated Genes
ABCB1
Associated Variants
ABCB1 MUTATION
ABCB1 MUTATION
ABCB1 p.Ser400Ile (p.S400I) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ser400Asn (p.S400N) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ser400Ile (p.S400I) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ser400Asn (p.S400N) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
Associated Disease
Malignant neoplasm of ovary
Source Database
DisGeNET
Description
ABCB1 G1199A polymorphism and ovarian cancer response to paclitaxel.
Pubmed
17828752
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0295224888399481
Year of publication
2008
Drugs