Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
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 )
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
- colon carcinoma
- Source Database
- DisGeNET
- Description
- Statistically significant interactions were observed between: MLH1 -93G>A and smoking (MSI-negative colon cancer only, p value interaction: 0.005); and MLH1 Ile219Val and Western diet (p value interaction: 0.03).
- Pubmed
- 18523027
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0195438147897818
- Year of publication
- 2009
Drugs