Annotation Detail
Information
- Associated Genes
- BRD2
- Associated Variants
-
BRD2 MUTATION
BRD2 MUTATION
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
NQO1 p.Pro187Ser (p.P187S) ( ENST00000439109.6, ENST00000379046.6, ENST00000379047.7, ENST00000564043.1, ENST00000320623.10, ENST00000561500.5 )
NQO1 p.Arg139Trp (p.R139W) ( ENST00000439109.6, ENST00000564043.1, ENST00000320623.10, ENST00000561500.5, ENST00000379046.6, ENST00000379047.7 )
NQO1 p.Arg139Gly (p.R139G) ( ENST00000561500.5, ENST00000320623.10, ENST00000564043.1, ENST00000379047.7, ENST00000379046.6, ENST00000439109.6 )
MTHFR p.Glu470Ala (p.E470A) ( ENST00000376590.9, ENST00000641407.1, ENST00000376592.6, ENST00000376585.6, ENST00000376583.7, ENST00000641820.1, ENST00000423400.7 )
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
NQO1 p.Pro187Ser (p.P187S) ( ENST00000320623.10, ENST00000379046.6, ENST00000379047.7, ENST00000439109.6, ENST00000561500.5, ENST00000564043.1 )
NQO1 p.Arg139Trp (p.R139W) ( ENST00000320623.10, ENST00000379046.6, ENST00000379047.7, ENST00000439109.6, ENST00000561500.5, ENST00000564043.1 )
NQO1 p.Arg139Gly (p.R139G) ( ENST00000320623.10, ENST00000379046.6, ENST00000379047.7, ENST00000439109.6, ENST00000561500.5, ENST00000564043.1 )
MTHFR p.Glu470Ala (p.E470A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 ) - Associated Disease
- Bladder Neoplasm
- Source Database
- DisGeNET
- Description
- Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped for NQO1 (R139W, P187S), NAT (rapid/slow), GSTP1 (I105V), GSTT1 and GSTM1 (non-null/null) and MTHFR (A222V, E429A) polymorphisms.
- Pubmed
- 17469025
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2007
Drugs