Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome. 28195393 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 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
0.640 CausalMutation group CLINVAR Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome. 28369758 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. 27696107 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. 27616075 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity. 28531214 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel. 26687385 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients. 26483394 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR A cohort analysis of men with a family history of BRCA1/2 and Lynch mutations for prostate cancer. 27456091 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort. 27443514 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. 26787237 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 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
0.640 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
0.640 CausalMutation group CLINVAR Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity. 26544533 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Impact of an immunohistochemistry-based universal screening protocol for Lynch syndrome in endometrial cancer on genetic counseling and testing. 25617771 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Identification of germline genetic mutations in patients with pancreatic cancer. 26440929 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population. 25318681 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Lynch-like syndrome: characterization and comparison with EPCAM deletion carriers. 25110875 2015