Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.300 Biomarker disease CLINGEN MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer. 29345684 2018
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.300 Biomarker disease CLINGEN Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458 2015
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.300 Biomarker disease CLINGEN Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2. 17148452 2007
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.300 Biomarker disease CLINGEN Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis. 7628019 1995