Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity. 26544533 2016
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Genetic features of Lynch syndrome in the Israeli population. 25430799 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Lynch Syndrome in high risk Ashkenazi Jews in Israel. 23990280 2014
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Lynch Syndrome in high risk Ashkenazi Jews in Israel. 23990280 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Lynch Syndrome in high risk Ashkenazi Jews in Israel. 23990280 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. 24440087 2014
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. 24440087 2014
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. 24440087 2014
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR The founder Ashkenazi Jewish mutations in the MSH2 and MSH6 genes in Israeli patients with gastric and pancreatic cancer. 22219001 2012
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. 21155762 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. 21155762 2011
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. 21155762 2011
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. 21155762 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients. 20007843 2010
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR Risks of Lynch syndrome cancers for MSH6 mutation carriers. 20028993 2010
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients. 20007843 2010
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Risks of Lynch syndrome cancers for MSH6 mutation carriers. 20028993 2010
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Risks of Lynch syndrome cancers for MSH6 mutation carriers. 20028993 2010
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study. 16616355 2006
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). 15872200 2005
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). 15872200 2005
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history. 15098177 2004
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history. 15098177 2004
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. 12732731 2003