Annotation Detail

Information
Associated Genes
NBN
Associated Variants
NBN p.Glu185Gln (p.E185Q) ( ENST00000265433.8, ENST00000409330.5, ENST00000517337.2, ENST00000523444.2, ENST00000697292.1, ENST00000697293.1, ENST00000697298.1, ENST00000697299.1, ENST00000697304.1, ENST00000697307.1, ENST00000697308.1, ENST00000697309.1, ENST00000697310.1 )
NBN p.Glu185Gln (p.E185Q) ( ENST00000265433.8, ENST00000409330.5, ENST00000517337.2, ENST00000523444.2, ENST00000697292.1, ENST00000697293.1, ENST00000697298.1, ENST00000697299.1, ENST00000697304.1, ENST00000697307.1, ENST00000697308.1, ENST00000697309.1, ENST00000697310.1 )
Associated Disease
Malignant neoplasm of urinary bladder
Source Database
DisGeNET
Description
Despite some limitations, this meta-analysis established some solid statistical evidence for the association between NBS1 Glu185Gln polymorphism and increased risk for urinary system cancer, especially for bladder cancer, but more well-designed prospective studies are needed to further verify our findings.
Pubmed
25073514
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0150165174878531
Year of publication
2014
Drugs