Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Colorectal cancer, hereditary nonpolyposis, type 1
0.100 CausalMutation disease CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
Colorectal cancer, hereditary nonpolyposis, type 1
0.100 CausalMutation disease CLINVAR Risks of Lynch syndrome cancers for MSH6 mutation carriers. 20028993 2010
Colorectal cancer, hereditary nonpolyposis, type 1
0.100 CausalMutation disease CLINVAR MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. 20487569 2010
Colorectal cancer, hereditary nonpolyposis, type 1
0.100 CausalMutation disease CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448 2008
Colorectal cancer, hereditary nonpolyposis, type 1
0.100 CausalMutation disease CLINVAR Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue. 14974087 2004
Colorectal cancer, hereditary nonpolyposis, type 1
0.100 CausalMutation disease CLINVAR Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium. 15483016 2004
Colorectal cancer, hereditary nonpolyposis, type 1
0.100 CausalMutation disease CLINVAR New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. 10348829 1999
Colorectal cancer, hereditary nonpolyposis, type 1
0.100 CausalMutation disease CLINVAR Familial endometrial cancer in female carriers of MSH6 germline mutations. 10508506 1999
Colorectal cancer, hereditary nonpolyposis, type 1
0.100 CausalMutation disease CLINVAR In vivo measurement of the volume of distribution of water in cerebral grey matter: effects on the calculation of regional cerebral blood flow. 1548301 1992
Colorectal cancer, hereditary nonpolyposis, type 1
0.100 GeneticVariation disease CLINVAR