Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 Biomarker group MGD
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group CLINVAR """Null pattern"" of immunoreactivity in a Lynch syndrome-associated colon cancer due to germline MSH2 mutation and somatic MLH1 hypermethylation." 22067334 2011
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group LHGDN A 10-Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred. 12203789 2002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group 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
0.900 CausalMutation group 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
0.900 GeneticVariation group CLINVAR 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
0.900 GeneticVariation group LHGDN 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
0.900 GeneticVariation group LHGDN A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1. 11857745 2002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
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
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 CausalMutation group CLINVAR A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations. 17473388 2007
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group 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
0.900 CausalMutation group 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
0.900 GeneticVariation group LHGDN A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer. 18406877 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 Biomarker group CTD_human 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
0.900 GeneticVariation group 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
0.900 CausalMutation group 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
0.900 GeneticVariation group LHGDN Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. 16341550 2006
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 CausalMutation group 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
0.900 CausalMutation group CLINVAR ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 24310308 2014
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 CausalMutation group CLINVAR Adrenocortical carcinoma, an unusual extracolonic tumor associated with Lynch II syndrome. 21225464 2011
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 CausalMutation group CLINVAR Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer. 27398995 2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 CausalMutation group CLINVAR Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. 8574961 1996
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 GeneticVariation group 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
0.900 CausalMutation group 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
0.900 CausalMutation group CLINVAR Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 27629256 2017