Annotation Detail

Information
Associated Genes
ESR1
Associated Variants
ESR1 MUTATION
ESR1 MUTATION
SOD2 p.Val16Ala (p.V16A) ( ENST00000337404.8, ENST00000367054.6, ENST00000367055.8, ENST00000444946.6, ENST00000452684.2, ENST00000538183.7, ENST00000546087.5 )
SOD2 p.Val16Ala (p.V16A) ( ENST00000337404.8, ENST00000367054.6, ENST00000367055.8, ENST00000444946.6, ENST00000452684.2, ENST00000538183.7, ENST00000546087.5 )
Associated Disease
Non-small cell lung carcinoma
Source Database
DisGeNET
Description
In this case-control study (830 non-small cell lung carcinoma (NSCLC) patients; 1119 controls) we evaluated whether the MPO -G463A polymorphism (associated with a novel estrogen receptor binding site) modifies the association between the SOD2 Ala16Val polymorphism and NSCLC risk differently by gender.
Pubmed
15331175
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00461451182536516
Year of publication
2004
Drugs