Annotation Detail

Information
Associated Genes
MLH1
Associated Variants
MLH1 p.Asp132His (p.D132H) ( 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.Asp132His (p.D132H) ( 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
uterine corpus cancer
Source Database
DisGeNET
Description
Low allele frequency of MLH1 D132H in American colorectal and endometrial cancer patients.
Pubmed
15991064
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0141149773481758
Year of publication
2005
Drugs