Annotation Detail
Information
- Associated Genes
- CYP1B1
- Associated Variants
-
GSTP1 c.[313A>G;341=]
(
ENST00000398606.10 )
SLC38A1 p.Val106Ile (p.V106I) ( ENST00000398637.10, ENST00000549049.5, ENST00000552197.5, ENST00000546893.5, ENST00000612161.4, ENST00000439706.5 )
PTGS2 p.Thr115Ile (p.T115I) ( ENST00000367468.10, ENST00000680451.1 )
CYP1B1 p.Val432= (p.V432=) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
NAT2 p.Ile114Thr (p.I114T) ( ENST00000286479.4, ENST00000520116.1 )
NAT2 p.Arg197Gln (p.R197Q) ( ENST00000286479.4, ENST00000520116.1 )
NAT2 p.Gly286Glu (p.G286E) ( ENST00000286479.4, ENST00000520116.1 )
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
SLC38A1 p.Val106Ile (p.V106I) ( ENST00000398637.10, ENST00000439706.5, ENST00000546893.5, ENST00000549049.5, ENST00000552197.5, ENST00000612161.4 )
PTGS2 p.Thr115Ile (p.T115I) ( ENST00000367468.10, ENST00000680451.1 )
CYP1B1 p.Leu432Val (p.L432V) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
NAT2 p.Ile114Thr (p.I114T) ( ENST00000286479.4, ENST00000520116.1 )
NAT2 p.Arg197Gln (p.R197Q) ( ENST00000286479.4, ENST00000520116.1 )
NAT2 p.Gly286Glu (p.G286E) ( ENST00000286479.4, ENST00000520116.1 ) - Associated Disease
- colorectal carcinoma
- Source Database
- DisGeNET
- Description
- We conducted a family-based case-control study to investigate the association between polymorphisms in carcinogen metabolism genes (CYP1A2 -154A>C, CYP1B1 Leu432Val, CYP2E1 -1054C>T, GSTP1 Ile105Val, PTGS2 5UTR -765, EPHX1 Tyr113His, NAT2 Ile114Thr, NAT2 Arg197Gln and NAT2 Gly286Glu) and CRC risk.
- Pubmed
- 21618522
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00325730246496364
- Year of publication
- 2012
Drugs