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 Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore. 24710284 2014
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805 2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Molecular screening in Sicilian families with hereditary non-poliposis colorectal cancer (H.N.P.C.C.) syndrome: identification of a novel mutation in MSH2 gene. 25200962 2014
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR RNA-based mutation screening in hereditary nonpolyposis colorectal cancer. 8808596 1996
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 GeneticVariation group 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 		0.900 CausalMutation group CLINVAR Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations. 9311737 1997
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR HNPCC: six new pathogenic mutations. 15217520 2004
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Malignant fibrous histiocytoma is a rare Lynch syndrome-associated tumor in two German families. 21598002 2011
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 GeneticVariation group CLINVAR Patient vs. physician as the target of educational outreach about screening for an inherited susceptibility to colorectal cancer. 12537652 2002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Identification of a one-base germline deletion (codon 888 del C) and an intron splice acceptor site polymorphism in hMSH2. 9222765 1997
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients. 11772966 2002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 GeneticVariation group CLINVAR The InSiGHT database: utilizing 100 years of insights into Lynch syndrome. 23443670 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers. 24244552 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Predominant germ-line mutation of the hMSH2 gene in Japanese hereditary non-polyposis colorectal cancer kindreds. 10404063 1999
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 Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. 8574961 1996
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patients. 8581513 1995
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Prognostic impact of mismatch repair genes germline defects in colorectal cancer patients: are all mutations equal? 26485756 2015
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. 8261515 1993
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation 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 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 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