Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.110 GeneticVariation disease BEFREE Increasing recognition of the statistical burden posed by HNPCC (5 to 6 percent of all colorectal cancer) mandates that physicians have a better understanding of the genetics, natural history, and distinction between the hereditary site-specific variant (Lynch syndrome I) and the Cancer Family Syndrome (Lynch syndrome II). 3366037 1988
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 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 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 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 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 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 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 		0.600 CausalMutation disease CLINVAR Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer. 15991314 2005
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease CLINVAR The novel germline mutation of hMSH2 gene in a case of a hereditary non-polyposis colorectal cancer (HNPCC) patient who meets the revised Amsterdam criteria. 14594944 2003
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease CLINVAR Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. 24278394 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease CLINVAR Proteasome inhibition rescues clinically significant unstable variants of the mismatch repair protein Msh2. 23248292 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease CLINVAR Mutation spectrum in South American Lynch syndrome families. 24344984 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease 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 		0.600 CausalMutation disease CLINVAR The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours. 14574162 2003