Annotation Detail
Information
- Associated Genes
- MGMT
- Associated Variants
-
MGMT MUTATION
MGMT MUTATION
MGMT p.Leu84Phe (p.L84F) ( ENST00000306010.8, ENST00000651593.1 )
MGMT p.Ile143Val (p.I143V) ( ENST00000651593.1, ENST00000306010.8 )
MGMT p.Leu84Phe (p.L84F) ( ENST00000306010.8, ENST00000651593.1 )
MGMT p.Ile143Val (p.I143V) ( ENST00000306010.8, ENST00000651593.1 ) - Associated Disease
- colorectal carcinoma
- Source Database
- DisGeNET
- Description
- O6-methylguanine-DNA methyltransferase Leu84Phe and Ile143Val polymorphisms and risk of colorectal cancer in the Nurses' Health Study and Physicians' Health Study (United States).
- Pubmed
- 16633920
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0143864192202561
- Year of publication
- 2006
Drugs