Annotation Detail

Information
Associated Genes
PMS2
Associated Variants
PMS2 MUTATION
PMS2 MUTATION
Associated Disease
endometrial carcinoma
Source Database
DisGeNET
Description
Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.
Pubmed
25871621
Section of the abstract supporting the evidence
TITLE
Number of the section of the abstract supporting the evidence
0
Number of the sentence supporting the evidence
0
Original source reporting the Gene Disease association
BeFree,GAD
DisGENET score for the Gene Disease association
0.00562433444356567
Drugs