Annotation Detail

Information
Associated Genes
MLH1
Associated Variants
MLH1 p.Val384Asp (p.V384D) ( ENST00000458205.6, ENST00000435176.5, ENST00000455445.6, ENST00000456676.7, ENST00000450420.6, ENST00000536378.5, ENST00000231790.8, ENST00000441265.6, ENST00000466900.6, ENST00000485889.2, ENST00000492474.6, ENST00000539477.6, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000673990.2, ENST00000674019.1, ENST00000713802.1 )
MLH1 p.Val384Asp (p.V384D) ( 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
Malignant neoplasm of stomach
Source Database
DisGeNET
Description
A new familial gastric cancer-related gene polymorphism: T1151A in the mismatch repair gene hMLH1.
Pubmed
20177793
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0246688727509051
Year of publication
2011
Drugs