MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.450 Biomarker disease BEFREE Germline mutations in MLH1, MSH2 and MSH6 are rare among unselected cases of ovarian cancer. 28176205 2017
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.450 GeneticVariation disease BEFREE Women with a germline mutation in one of the MMR genes MLH1, MSH2 or MSH6 reportedly have 4-12% lifetime risk of ovarian cancer, but there is limited knowledge on survival. 19635727 2010
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.450 AlteredExpression disease BEFREE MMR-deficient ovarian cancer is frequently associated with loss of expression of MSH2 and MSH6 proteins and clear cell histology. 18469706 2008
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.450 AlteredExpression disease BEFREE The purpose of our study was to determine the likelihood of MMR defects (MSH2, MSH6, MLH1) in women with synchronous endometrial and ovarian cancer. 16361634 2005
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.450 GeneticVariation disease BEFREE Our results and reports by others indicate that, besides colorectal and endometrial cancer, the late-onset endometrioid type of ovarian cancer can be a feature of families with MSH6 germline mutations. 12376742 2002
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.450 CausalMutation disease CLINVAR
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.450 CausalMutation disease CGI
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.450 Biomarker disease HPO
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.450 GeneticVariation disease CLINVAR