Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation group CLINVAR Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes. 29967336 2018
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation group CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 GeneticVariation group CLINVAR Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort. 29212164 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 GeneticVariation group CLINVAR Thyroid cancer in a patient with Lynch syndrome - case report and literature review. 28769567 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation group CLINVAR A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients. 28445943 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation group CLINVAR Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 27629256 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation group CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 GeneticVariation group CLINVAR Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis. 28577310 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation group CLINVAR MSH2 Loss in Primary Prostate Cancer. 28790115 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 GeneticVariation group CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation group CLINVAR MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome. 27606285 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation group CLINVAR Mutation profiles of synchronous colorectal cancers from a patient with Lynch syndrome suggest distinct oncogenic pathways. 27284491 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 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
0.900 CausalMutation group CLINVAR Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review. 26659639 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation group CLINVAR Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer. 27398995 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation group CLINVAR Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 26951660 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 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
0.900 CausalMutation group CLINVAR The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer. 26289772 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation group CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 GeneticVariation group CLINVAR Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 26951660 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation group CLINVAR Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses. 26866578 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation group CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation group CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 GeneticVariation group CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 Biomarker group CLINGEN Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. 27329137 2016