Annotation Detail
Information
- Associated Genes
- MSH6
- Associated Variants
-
MSH6 p.Gly39Glu (p.G39E)
(
ENST00000540021.6,
ENST00000234420.11,
ENST00000652107.1,
ENST00000673637.1,
ENST00000700000.1,
ENST00000700002.1,
ENST00000700004.2 )
MSH6 p.Gly39Ala (p.G39A) ( ENST00000234420.11, ENST00000540021.6, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2 )
MLH1 p.Ile219Leu (p.I219L) ( ENST00000231790.8, ENST00000435176.5, ENST00000441265.6, ENST00000450420.6, ENST00000455445.6, ENST00000456676.7, ENST00000458205.6, ENST00000466900.6, ENST00000485889.2, ENST00000492474.6, ENST00000536378.5, ENST00000539477.6, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000673990.2, ENST00000674019.1, ENST00000713802.1 )
MLH1 p.Ile219Val (p.I219V) ( ENST00000458205.6, ENST00000539477.6, ENST00000456676.7, ENST00000455445.6, ENST00000485889.2, ENST00000536378.5, ENST00000231790.8, ENST00000435176.5, ENST00000441265.6, ENST00000492474.6, ENST00000466900.6, ENST00000674019.1, ENST00000713802.1, ENST00000450420.6, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000673990.2 )
MSH6 p.Gly39Glu (p.G39E) ( ENST00000234420.11, ENST00000540021.6, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2 )
MSH6 p.Gly39Ala (p.G39A) ( ENST00000234420.11, ENST00000540021.6, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2 )
MLH1 p.Ile219Leu (p.I219L) ( ENST00000231790.8, ENST00000435176.5, ENST00000441265.6, ENST00000450420.6, ENST00000455445.6, ENST00000456676.7, ENST00000458205.6, ENST00000466900.6, ENST00000485889.2, ENST00000492474.6, ENST00000536378.5, ENST00000539477.6, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000673990.2, ENST00000674019.1, ENST00000713802.1 )
MLH1 p.Ile219Val (p.I219V) ( ENST00000231790.8, ENST00000435176.5, ENST00000441265.6, ENST00000450420.6, ENST00000455445.6, ENST00000456676.7, ENST00000458205.6, ENST00000466900.6, ENST00000485889.2, ENST00000492474.6, ENST00000536378.5, ENST00000539477.6, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000673990.2, ENST00000674019.1, ENST00000713802.1 ) - Associated Disease
- Polyp of large intestine
- Source Database
- DisGeNET
- Description
- In a Minnesota-based case-control study of individuals with adenomas (N=401), hyperplastic polyps (N=195), or both adenomas and hyperplastic polyps (N=123) versus polyp-free controls (N=624), we investigated the role of hMLH1-93G>A, hMLH1 I219V, and hMSH6 G39E polymorphisms in increasing the risk of colorectal polyps.
- Pubmed
- 16771955
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2006
Drugs