Annotation Detail

Information
Associated Genes
SOD2
Associated Variants
SOD2 MUTATION
SOD2 MUTATION
GPX1 p.Pro200Leu (p.P200L), ENSG00000290318 c.*319C>T ( ENST00000419349.3, ENST00000419783.3, ENST00000496791.3, ENST00000643797.2, ENST00000646881.3, ENST00000703795.1, ENST00000703796.1, ENST00000704356.1, ENST00000704374.1, ENST00000704375.1, ENST00000704376.1, ENST00000704377.1, ENST00000704378.1 )
SOD2 p.Val16Ala (p.V16A) ( ENST00000337404.8, ENST00000367054.6, ENST00000367055.8, ENST00000444946.6, ENST00000452684.2, ENST00000538183.7, ENST00000546087.5 )
GPX1 p.Pro200Leu (p.P200L), ENSG00000290318 c.*319C>T ( ENST00000419349.3, ENST00000419783.3, ENST00000496791.3, ENST00000643797.2, ENST00000646881.3, ENST00000703795.1, ENST00000703796.1, ENST00000704356.1, ENST00000704374.1, ENST00000704375.1, ENST00000704376.1, ENST00000704377.1, ENST00000704378.1 )
SOD2 p.Val16Ala (p.V16A) ( ENST00000337404.8, ENST00000367054.6, ENST00000367055.8, ENST00000444946.6, ENST00000452684.2, ENST00000538183.7, ENST00000546087.5 )
Associated Disease
Malignant neoplasm of lung
Source Database
DisGeNET
Description
We evaluated potential associations between gene variants that result in reduced neutralization of reactive oxygen species (ROS; MnSOD Ala-16Val, CAT -262 C>T, and GPX1 Pro200Leu) and prostate cancer risk among 724 men with incident prostate cancer who participated in the Carotene and Retinol Efficacy Trial (CARET) cohort, a randomized trial for the prevention of lung cancer among men with a history of smoking and/or asbestos exposure.
Pubmed
17548672
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0219221164216996
Year of publication
2007
Drugs