Disease: ovarian neoplasm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.440 GeneticVariation disease BEFREE PMS2 germline mutation c.943C>T (p.Arg315*)-induced Lynch syndrome-associated ovarian cancer. 31056861 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.440 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
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.440 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
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.440 Biomarker disease LHGDN The observed association of PMS2 rs7797466 with ovarian cancer warrants confirmation in an independent study. 16774946 2006
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.440 CausalMutation disease CGI
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.440 CausalMutation disease CLINVAR
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.440 Biomarker disease HPO