Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915 2009
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease CLINVAR Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). 15872200 2005
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease 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 		0.600 CausalMutation disease CLINVAR MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome. 27606285 2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease 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 2015
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 GeneticVariation disease UNIPROT Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes. 9298827 1997
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease CLINVAR Mechanisms of pathogenicity in human MSH2 missense mutants. 18951462 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease CLINVAR Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. 9718327 1998
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 GeneticVariation disease UNIPROT Novel hMLH1 and hMSH2 germline mutations in African Americans with colorectal cancer. 10386556 1999
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 GeneticVariation disease UNIPROT Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms? 11726306 2001
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 GeneticVariation disease UNIPROT Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression. 11870161 2002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease CLINVAR Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135 2006
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease CLINVAR Lynch Syndrome in high risk Ashkenazi Jews in Israel. 23990280 2014
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 GeneticVariation disease UNIPROT MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. 18781619 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease 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 		0.600 CausalMutation disease 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 		0.600 GeneticVariation disease UNIPROT Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia. 15996210 2005
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 GeneticVariation disease UNIPROT Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR. 15613555 2004
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 GeneticVariation disease CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990 2011
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 GeneticVariation disease 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 		0.600 CausalMutation disease 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 		0.600 CausalMutation disease CLINVAR MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. 18781619 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 GeneticVariation disease UNIPROT Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer. 10375096 1999
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease CLINVAR Splice site mutations in mismatch repair genes and risk of cancer in the general population. 23329266 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 GeneticVariation disease UNIPROT Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families. 10612836 2000