Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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 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 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation 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
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation 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
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379 2013
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Risks of Lynch syndrome cancers for MSH6 mutation carriers. 20028993 2010
Hereditary Nonpolyposis Colorectal Cancer
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
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 GeneticVariation CLINVAR Risks of Lynch syndrome cancers for MSH6 mutation carriers. 20028993 2010
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts. 18269114 2008
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts. 18269114 2008
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR DNA mismatch repair defects: role in colorectal carcinogenesis. 11900875 2002
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Germ-line msh6 mutations in colorectal cancer families. 10537275 1999
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 GeneticVariation CLINVAR Germ-line msh6 mutations in colorectal cancer families. 10537275 1999
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Germ-line msh6 mutations in colorectal cancer families. 10537275 1999
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Germ-line msh6 mutations in colorectal cancer families. 10537275 1999
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR