Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation group CLINVAR Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation. 29790873 2018
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation group CLINVAR Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. 28135145 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation group CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation group CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation group CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation group CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation group CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation group CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation group CLINVAR [Founder mutation in Lynch syndrome]. 27295708 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation group CLINVAR Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. 27435373 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation group CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation group CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation group CLINVAR Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort. 26895986 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation group CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation group CLINVAR Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome. 26053027 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation group CLINVAR Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity. 24302565 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation group CLINVAR Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis. 25477341 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation group CLINVAR Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors. 25060679 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation group CLINVAR Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. 26300997 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation group CLINVAR Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 25559809 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation group CLINVAR Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. 26248088 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 Biomarker group CTD_human Microsatellite instability: an update. 25701956 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation group CLINVAR Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome. 26437257 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation group CLINVAR Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. 26248088 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation group CLINVAR Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis. 25477341 2015