Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 GeneticVariation group CLINVAR Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair. 24501230 2014
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 The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. 12454801 2002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 GeneticVariation group CLINVAR UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. 10612827 2000
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. 20591884 2010
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer. 21868491 2012
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Microsatellite instability as indicator of MSH2 gene mutation in patients with upper urinary tract transitional cell carcinoma. 15235034 2004
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes. 8592341 1995
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 GeneticVariation group CLINVAR Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort. 29212164 2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 Biomarker group CTD_human Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations. 14756672 2004
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Impact of 226C>T MSH2 gene mutation on cancer phenotypes in two HNPCC-associated highly-consanguineous families from Kuwait: emphasis on premarital genetic testing. 19669601 2009
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study. 26552419 2015
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. 12658575 2003
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 GeneticVariation group 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 		0.900 AlteredExpression group LHGDN [Clinical analysis and molecular genetic study of hereditary nonpolyposis colorectal cancer kindreds]. 15062061 2004
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 Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients. 20007843 2010
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Functional analysis of HNPCC-related missense mutations in MSH2. 18822302 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein. 17101317 2006
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 Biomarker group CLINGEN Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. 8261515 1993
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 15849733 2005
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 CausalMutation group CLINVAR MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. 18781619 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Microsatellite instability and mutation of DNA mismatch repair genes in gliomas. 9777949 1998
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. 12124176 2002