Annotation Detail

Information
Associated Genes
CYP1B1
Associated Variants
CYP1B1 p.Val432= (p.V432=) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Leu432Val (p.L432V) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
Associated Disease
Malignant neoplasm of lung
Source Database
DisGeNET
Description
Impacts on the catalytic activity of the CYP1B1 enzyme, as well as an association of the Leu432Val polymorphism with the risk of lung cancer, have been described; however, the results remain controversial.
Pubmed
24989113
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0332903374406698
Year of publication
2014
Drugs