Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 GeneticVariation 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation CLINVAR RNA-based mutation screening in hereditary nonpolyposis colorectal cancer. 8808596

1996
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 GeneticVariation 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation CLINVAR HNPCC: six new pathogenic mutations. 15217520

2004
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation CLINVAR Malignant fibrous histiocytoma is a rare Lynch syndrome-associated tumor in two German families. 21598002

2011
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 GeneticVariation 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation CLINVAR Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients. 11772966

2002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 GeneticVariation CLINVAR The InSiGHT database: utilizing 100 years of insights into Lynch syndrome. 23443670

2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation CLINVAR Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers. 24244552

2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 GeneticVariation 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation CLINVAR Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. 8574961

1996
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation CLINVAR Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. 8261515

1993
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 GeneticVariation 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 GeneticVariation 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 GeneticVariation CLINVAR UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. 10612827

2000
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation 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