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 A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 15235030

2004

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. 18625694

2008

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205

2008

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening. 10528862

1999

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379

2013

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy. 15896463

2005

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614

2012

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614

2012

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations. 19760518

2009

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312

2008

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312

2008

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 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 Biomarker GENOMICS_ENGLAND 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 GeneticVariation UNIPROT Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2. 10573010

2000

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. 15342696

2004

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387

2013

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Cancer risk in 348 French MSH2 or MLH1 gene carriers. 12624141

2003

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

2013

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682

2011

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals. 21681552

2011

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. 19267393

2009

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia. 15996210

2005

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2. 19669161

2010

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Concise handbook of familial cancer susceptibility syndromes - second edition. 18559331

2008