Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.630 CausalMutation disease CGI
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.630 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.630 CausalMutation disease CLINVAR
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.630 AlteredExpression disease BEFREE The incidence of germline MMR gene mutations in ovarian cancer is only 2% but other mechanisms of gene inactivation mean that loss of expression of one of the seven main genes (MSH2, MSH3, MSH6, MLH1, MLH3, PMS1 and PMS2) occurs in up to 29% of cases. 24333356 2014
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.630 Biomarker disease BEFREE We performed Immunohistochemistry (IHC) for MLH1, MSH2, MSH6 and PMS2 on full-section slides from 419 OCs to assess the MMR status. 29496294 2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.630 GeneticVariation disease BEFREE PMS2 germline mutation c.943C>T (p.Arg315*)-induced Lynch syndrome-associated ovarian cancer. 31056861 2019