Annotation Detail
Information
- Associated Genes
- MUTYH
- Associated Variants
-
OGG1 c.948+273C>G
(
ENST00000302003.11,
ENST00000302008.12,
ENST00000302036.12,
ENST00000339511.9,
ENST00000344629.12,
ENST00000352937.6,
ENST00000383826.9,
ENST00000449570.6,
ENST00000707074.1 )
OGG1 c.948+273C>G ( ENST00000302003.11, ENST00000302008.12, ENST00000302036.12, ENST00000339511.9, ENST00000344629.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1 ) - Associated Disease
- Malignant tumor of colon
- Source Database
- DisGeNET
- Description
- Case-control studies of genetic polymorphisms in DNA repair enzymes suggest that the common variant Ser326Cys in OGG1 may be a risk factor for lung cancer, whereas a rare variant in OGG1 and germ line mutations in the corresponding mismatch repair gene MYH are risk factors for hereditary colon cancer.
- Pubmed
- 16771692
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00271441872080303
- Year of publication
- 2006
Drugs