Annotation Detail
Information
- Associated Genes
- CRYZ
- Associated Variants
-
NQO1 p.Pro187Ser (p.P187S)
(
ENST00000439109.6,
ENST00000379046.6,
ENST00000379047.7,
ENST00000564043.1,
ENST00000320623.10,
ENST00000561500.5 )
NQO1 p.Pro187Ser (p.P187S) ( ENST00000320623.10, ENST00000379046.6, ENST00000379047.7, ENST00000439109.6, ENST00000561500.5, ENST00000564043.1 ) - Associated Disease
- Malignant neoplasm of urinary bladder
- Source Database
- DisGeNET
- Description
- The NAD(P)H:quinone oxidoreductase 1 (NQO1) rs1800566 polymorphism, leading to proline- toserine amino-acid and enzyme activity changes, has been implicated in bladder cancer risk, but individually published studies showed inconsistent results.
- Pubmed
- 23464456
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00217153497664243
- Year of publication
- 2014
Drugs