Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.630 GeneticVariation BEFREE PMS2 germline mutation c.943C>T (p.Arg315*)-induced Lynch syndrome-associated ovarian cancer. 31056861

2019

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.630 Biomarker 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
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.630 AlteredExpression 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
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.630 CausalMutation CGI

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.630 Biomarker GENOMICS_ENGLAND

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.630 CausalMutation CLINVAR