Annotation Detail

Information
Associated Genes
PPIG
Associated Variants
CYP2E1 c.-117-455C>T ( ENST00000463117.6 )
MDM2 c.14+309T>G ( ENST00000393412.7, ENST00000258148.11, ENST00000258149.11 )
OSGEP c.702+16A>G ( ENST00000206542.9 )
NEIL2 c.-226G>C ( ENST00000284503.7, ENST00000403422.7, ENST00000436750.7, ENST00000455213.6, ENST00000528323.5 )
CYP2E1 c.-117-455C>T ( ENST00000463117.6 )
MDM2 c.14+309T>G ( ENST00000258148.11, ENST00000258149.11, ENST00000393412.7 )
OSGEP c.702+16A>G ( ENST00000206542.9 )
NEIL2 c.-226G>C ( ENST00000284503.7, ENST00000403422.7, ENST00000436750.7, ENST00000455213.6, ENST00000528323.5 )
Associated Disease
stomach carcinoma
Source Database
DisGeNET
Description
Risk analysis revealed that there was increased risk for gastric cancer in subjects with mutant alleles in APE 1 (rs2275008: OR 5.49, 95% CI = 2.6-5.7, p <.0001), NEIL 2 (rs804270: OR 2.3, 95% CI = 1.22-4.3, p=0.01), MDM2 (rs2279744: OR 14.65, 95% CI = 5.63-8.15, p < .0001), and CYP 2E1 (rs2031920: OR 8.385, 95% CI = 3.2-5.3, p < .0001) SNPs.
Pubmed
26373042
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00108576748832121
Year of publication
2015
Drugs