Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2017

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations. 28422960

2017

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2017

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 Biomarker CLINGEN Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. 27329137

2016

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation CLINVAR Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 26951660

2016

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients. 26517685

2016

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome. 27606285

2016

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 26951660

2016

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation 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

2016

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation 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

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation CLINVAR Lynch Syndrome in high risk Ashkenazi Jews in Israel. 23990280

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation CLINVAR Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. 24278394

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Lynch Syndrome in high risk Ashkenazi Jews in Israel. 23990280

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. 24278394

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry. 25117503

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Cancer risk in Lynch Syndrome. 23604856

2014

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation CLINVAR Cancer risk in Lynch Syndrome. 23604856

2014

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 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

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Splice site mutations in mismatch repair genes and risk of cancer in the general population. 23329266

2014

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 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

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer. 22883484

2013

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 Biomarker CLINGEN Cancer risks for MLH1 and MSH2 mutation carriers. 23255516

2013