Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis? 28503822 2018
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts. 27273229 2017
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 GeneticVariation group CLINVAR DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer. 28640387 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria. 28365877 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 CausalMutation group CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours. 28805995 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 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
0.640 GeneticVariation group CLINVAR The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. 26110232 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR PMS2 monoallelic mutation carriers: the known unknown. 25856668 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 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
0.640 GeneticVariation 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
0.640 CausalMutation group CLINVAR Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations. 28007021 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR PMS2 monoallelic mutation carriers: the known unknown. 25856668 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan. 27589204 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR [Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute]. 26691941 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. 27476653 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. 27476653 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 The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. 26110232 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 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