Annotation Detail

Information
Associated Genes
PMS2
Associated Variants
PMS2 MUTATION
PMS2 MUTATION
Associated Disease
Conventional (Clear Cell) Renal Cell Carcinoma
Source Database
DisGeNET
Description
Both decreased MLH1 and increased AKT levels induced lower PMS2, indicating that MMR was mediated by SETD2 via both AKT and MLH1 in ccRCC.
Pubmed
25528216
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
8
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Drugs