Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR """Central arousal"" and sexual responsiveness in the snail, Helix aspersa." 2059188 1991
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker group CLINGEN Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells. 7604264 1995
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker group CLINGEN GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. 7604265 1995
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. 9307272 1997
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker group CLINGEN Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. 9354786 1997
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker group CTD_human Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. 9354786 1997
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker group CLINGEN Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. 9390556 1997
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer. 9774676 1998
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Germline mutations in a polycytosine repeat of the hMSH6 gene in Korean hereditary nonpolyposis colorectal cancer. 9929971 1999
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Familial endometrial cancer in female carriers of MSH6 germline mutations. 10508506 1999
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker group CLINGEN Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. 10521294 1999
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. 10521294 1999
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Germ-line msh6 mutations in colorectal cancer families. 10537275 1999
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker group CLINGEN HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions. 10545954 1999
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. 10612827 2000
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker group CLINGEN MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer. 11245474 2001
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker group CTD_human A role for MLH3 in hereditary nonpolyposis colorectal cancer. 11586295 2001
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker group CLINGEN Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. 11709755 2002
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation. 11807791 2002
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome. 12019211 2002
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Ovarian cancer of endometrioid type as part of the MSH6gene mutation phenotype. 12376742 2002
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. 12658575 2003
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. 12732731 2003
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR MSH6 germline mutations are rare in colorectal cancer families. 14520694 2003
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden. 14961575 2004